PIGL[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 586931.	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3 GRCh37: Chr17:10795576-17867596 GRCh38: Chr17:10892259-17964282	LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC132090454, LOC132090455, LOC132090456, LOC132090457, LOC132090458, LOC284191, LRRC75A, MAP2K4, MED9, MGC12916, MIR1269B, MIR1288, MIR33B, MIR4731, MIR548H3, MIR6777, MIR744, MPRIP, MYOCD, MYOCD-AS1, NCOR1, NT5M, PEMT, PIGL, PLD6, PMP22, RAI1, RAI1-AS1, RASD1, SHISA6, SMCR2, SMCR5, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, SREBF1, TBC1D26, TBC1D26-AS1, TEKT3, TNFRSF13B, TOM1L2, TRIM16, TRPV2, TTC19, TVP23C, TVP23C-CDRT4, UBB, ZNF18, ZNF286A, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7, ADORA2B, ARHGAP44, ARHGAP44-AS1, CCDC144A, CDRT15, CDRT3, CDRT4, CDRT7, CDRT8, CENPV, COPS3, COX10, COX10-DT, DNAH9, ELAC2, FAM106C, FBXW10B, FLCN, HS3ST3A1, HS3ST3B1, LINC00670, LINC02087, LINC02090, LINC02093, LOC101928350, LOC101928475, LOC105943586, LOC105943587, LOC106020709, LOC106020711, LOC108745275, LOC110121380, LOC110121461, LOC111556156, LOC112529896, LOC112529897, LOC112529898, LOC112529899, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121852924, LOC125177420, LOC125177421, LOC125177425, LOC125177427, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC126862502, LOC126862503, LOC126862504, LOC126862505, LOC126862506, LOC126862507, LOC126862508, LOC126862509, LOC126862510, LOC126862511, LOC126862512, LOC126862513, LOC126862514, LOC126862515, LOC126862516, LOC129390836, LOC129390837, LOC129390838, LOC129390839, LOC129390840, LOC129390841, LOC129390842, LOC129390843, LOC130060297, LOC130060298, LOC130060299, LOC130060300, LOC130060301, LOC130060302, LOC130060303, LOC130060304, LOC130060305, LOC130060306, LOC130060307, LOC130060308, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 17074542.	Single allele GRCh38: Chr17:11915997-17892664	ADORA2B, ARHGAP44, ARHGAP44-AS1, CCDC144A, CDRT15, CDRT3, CDRT4, CDRT7, CDRT8, CENPV, COPS3, COX10, COX10-DT, DNAH9, ELAC2, FAM106C, FBXW10B, FLCN, HS3ST3A1, HS3ST3B1, LINC00670, LINC02087, LINC02090, LINC02093, LOC101928475, LOC105943586, LOC105943587, LOC106020709, LOC106020711, LOC108745275, LOC110121380, LOC110121461, LOC111556156, LOC112529896, LOC112529897, LOC112529898, LOC112529899, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121852924, LOC125177420, LOC125177421, LOC125177425, LOC125177427, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC126862508, LOC126862509, LOC126862510, LOC126862511, LOC126862512, LOC126862513, LOC126862514, LOC126862515, LOC126862516, LOC129390838, LOC129390839, LOC129390840, LOC129390841, LOC129390842, LOC129390843, LOC130060297, LOC130060298, LOC130060299, LOC130060300, LOC130060301, LOC130060302, LOC130060303, LOC130060304, LOC130060305, LOC130060306, LOC130060307, LOC130060308, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC132090454, LOC132090455, LOC132090456, LOC132090457, LOC132090458, LOC284191, LRRC75A, MAP2K4, MED9, MGC12916, MIR1269B, MIR1288, MIR33B, MIR4731, MIR548H3, MIR6777, MIR744, MPRIP, MYOCD, MYOCD-AS1, NCOR1, NT5M, PEMT, PIGL, PLD6, PMP22, RAI1, RAI1-AS1, RASD1, SMCR2, SMCR5, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, SREBF1, TBC1D26, TBC1D26-AS1, TEKT3, TNFRSF13B, TOM1L2, TRIM16, TRPV2, TTC19, TVP23C, TVP23C-CDRT4, UBB, ZNF18, ZNF286A, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7		not specified	Pathogenic (Sep 28, 2022)	criteria provided, single submitter
Select item 1549793.	GRCh38/hg38 17p12-11.2(chr17:15066799-17472457)x1 GRCh37: Chr17:14970116-17375771 GRCh38: Chr17:15066799-17472457	ADORA2B, CCDC144A, CDRT3, CDRT4, CDRT8, CENPV, COPS3, FAM106C, FBXW10B, FLCN, LINC02087, LINC02090, LOC105943587, LOC106020709, LOC106020711, LOC108745275, LOC111556156, LOC112529896, LOC112529897, LOC112529898, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC125177427, LOC125177428, LOC125177429, LOC126862512, LOC126862513, LOC126862514, LOC126862515, LOC129390841, LOC129390842, LOC129390843, LOC130060307, LOC130060308, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC132090457, LOC132090458, LOC284191, LRRC75A, MIR1288, MIR4731, MPRIP, NCOR1, NT5M, PIGL, PLD6, PMP22, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, TBC1D26, TBC1D26-AS1, TEKT3, TNFRSF13B, TRIM16, TRPV2, TTC19, TVP23C, TVP23C-CDRT4, UBB, ZNF286A, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7		See cases	Pathogenic (Sep 21, 2012)	no assertion criteria provided
Select item 1480884.	GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3 GRCh37: Chr17:15113717-18184130 GRCh38: Chr17:15210400-18280816	ADORA2B, ALKBH5, ATPAF2, CCDC144A, CDRT3, CDRT4, CENPV, COPS3, DRC3, DRG2, FAM106C, FBXW10B, FLCN, FLII, GID4, LINC02087, LINC02090, LLGL1, LOC105371566, LOC105943587, LOC106020709, LOC106020711, LOC108745275, LOC110121461, LOC111556156, LOC112529896, LOC112529897, LOC112529898, LOC112529899, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121852924, LOC125177427, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC126862513, LOC126862514, LOC126862515, LOC126862516, LOC129390841, LOC129390842, LOC129390843, LOC130060307, LOC130060308, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC132090457, LOC132090458, LOC284191, LRRC75A, MED9, MIEF2, MIR1288, MIR33B, MIR4731, MIR6777, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PMP22, RAI1, RAI1-AS1, RASD1, SMCR2, SMCR5, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, SREBF1, TBC1D26, TBC1D26-AS1, TEKT3, TNFRSF13B, TOM1L2, TOP3A, TRIM16, TRPV2, TTC19, TVP23C, TVP23C-CDRT4, UBB, ZNF286A, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 581045.	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3 GRCh37: Chr17:15138002-20524013 GRCh38: Chr17:15234685-20620700	LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC130060429, LOC130060430, LOC130060431, LOC130060432, LOC130060433, LOC130060434, LOC130060435, LOC130060436, LOC130060437, LOC130060438, LOC130060439, LOC130060440, LOC130060441, LOC130060442, LOC130060443, LOC130060444, LOC130060445, LOC130060446, LOC130060447, LOC130060448, LOC130060449, LOC130060450, LOC130060451, LOC130060452, LOC130060453, LOC130060454, LOC130060455, LOC130060456, LOC130060457, LOC130060458, LOC130060459, LOC130060460, LOC130060461, LOC130060462, LOC130060463, LOC130060464, LOC130060465, LOC130060466, LOC130060467, LOC130060468, LOC130060469, LOC130060470, LOC130060471, LOC130060472, LOC130060473, LOC130060474, LOC130060475, LOC130060476, LOC130060477, LOC130060478, LOC130060479, LOC130060480, LOC130060481, LOC132090457, LOC132090458, LOC132090459, LOC284191, LOC388436, LRRC75A, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR1288, MIR33B, MIR4731, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PMP22, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORA59B, SNORD163, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SNORD49A, SNORD49B, SNORD65, SPECC1, SPECC1-DT, SREBF1, TBC1D26, TBC1D26-AS1, TBC1D28, TEKT3, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16, TRIM16L, TRPV2, TRW-CCA2-1, TTC19, TVP23B, TVP23C, TVP23C-CDRT4, UBB, ULK2, ZNF286A, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7, ADORA2B, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CDRT15L2, CDRT3, CDRT4, CENPV, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FBXW10B, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02087, LINC02088, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC105943587, LOC106020709, LOC106020710, LOC106020711, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529896, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177427, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862513, LOC126862514, LOC126862515, LOC126862516, LOC126862517, LOC129390841, LOC129390842, LOC129390843, LOC130060307, LOC130060308, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 581076.	GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3 GRCh37: Chr17:15162481-20828612 GRCh38: Chr17:15259164-20925299	ADORA2B, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CCDC144NL-AS1, CDRT15L2, CDRT3, CDRT4, CENPV, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FBXW10B, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02087, LINC02088, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC105943587, LOC106020709, LOC106020710, LOC106020711, LOC106020712, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529896, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177427, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862513, LOC126862514, LOC126862515, LOC126862516, LOC126862517, LOC129390841, LOC129390842, LOC129390843, LOC130060307, LOC130060308, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC130060429, LOC130060430, LOC130060431, LOC130060432, LOC130060433, LOC130060434, LOC130060435, LOC130060436, LOC130060437, LOC130060438, LOC130060439, LOC130060440, LOC130060441, LOC130060442, LOC130060443, LOC130060444, LOC130060445, LOC130060446, LOC130060447, LOC130060448, LOC130060449, LOC130060450, LOC130060451, LOC130060452, LOC130060453, LOC130060454, LOC130060455, LOC130060456, LOC130060457, LOC130060458, LOC130060459, LOC130060460, LOC130060461, LOC130060462, LOC130060463, LOC130060464, LOC130060465, LOC130060466, LOC130060467, LOC130060468, LOC130060469, LOC130060470, LOC130060471, LOC130060472, LOC130060473, LOC130060474, LOC130060475, LOC130060476, LOC130060477, LOC130060478, LOC130060479, LOC130060480, LOC130060481, LOC130060482, LOC130060483, LOC130060484, LOC132090457, LOC132090458, LOC132090459, LOC284191, LOC388436, LRRC75A, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PMP22, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORA59B, SNORD163, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SNORD49A, SNORD49B, SNORD65, SPECC1, SPECC1-DT, SREBF1, TBC1D26, TBC1D26-AS1, TBC1D28, TEKT3, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16, TRIM16L, TRPV2, TRW-CCA2-1, TTC19, TVP23B, TVP23C, TVP23C-CDRT4, UBB, ULK2, ZNF286A, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1539907.	GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3 GRCh37: Chr17:15455676-18917513 GRCh38: Chr17:15552362-19014200	ADORA2B, ALKBH5, ATPAF2, CCDC144A, CENPV, COPS3, DRC3, DRG2, EVPLL, FAM106A, FAM106C, FAM83G, FBXW10, FBXW10B, FLCN, FLII, FOXO3B, GID4, LGALS9C, LINC02076, LINC02087, LINC02090, LLGL1, LOC105371566, LOC105943587, LOC106020709, LOC106020711, LOC108745275, LOC110121461, LOC111556156, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC126862514, LOC126862515, LOC126862516, LOC129390841, LOC129390842, LOC129390843, LOC130060308, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC130060429, LOC130060430, LOC130060431, LOC130060432, LOC130060433, LOC130060434, LOC130060435, LOC130060436, LOC130060437, LOC130060438, LOC130060439, LOC130060440, LOC132090457, LOC132090458, LOC132090459, LOC284191, LRRC75A, MED9, MIEF2, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, SHMT1, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, SREBF1, TBC1D26, TBC1D26-AS1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16, TRIM16L, TRPV2, TTC19, TVP23B, TVP23C, TVP23C-CDRT4, UBB, ZNF286A, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7		See cases	Pathogenic (Nov 5, 2013)	no assertion criteria provided
Select item 1554188.	GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1 GRCh37: Chr17:15633207-20413564 GRCh38: Chr17:15729893-20510251	ADORA2B, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CENPV, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02087, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC106020711, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862514, LOC126862515, LOC126862516, LOC126862517, LOC129390841, LOC129390842, LOC129390843, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC130060429, LOC130060430, LOC130060431, LOC130060432, LOC130060433, LOC130060434, LOC130060435, LOC130060436, LOC130060437, LOC130060438, LOC130060439, LOC130060440, LOC130060441, LOC130060442, LOC130060443, LOC130060444, LOC130060445, LOC130060446, LOC130060447, LOC130060448, LOC130060449, LOC130060450, LOC130060451, LOC130060452, LOC130060453, LOC130060454, LOC130060455, LOC130060456, LOC130060457, LOC130060458, LOC130060459, LOC130060460, LOC130060461, LOC130060462, LOC130060463, LOC130060464, LOC130060465, LOC130060466, LOC130060467, LOC130060468, LOC130060469, LOC130060470, LOC130060471, LOC130060472, LOC130060473, LOC130060474, LOC130060475, LOC130060476, LOC130060477, LOC130060478, LOC130060479, LOC130060480, LOC130060481, LOC132090457, LOC132090458, LOC132090459, LOC284191, LOC388436, LRRC75A, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORA59B, SNORD163, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SNORD49A, SNORD49B, SNORD65, SPECC1, SPECC1-DT, SREBF1, TBC1D26, TBC1D26-AS1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRPV2, TRW-CCA2-1, TTC19, TVP23B, UBB, ULK2, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7		See cases	Pathogenic (Jun 25, 2013)	no assertion criteria provided
Select item 569969.	GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1 GRCh37: Chr17:15680229-18675066 GRCh38: Chr17:15776915-18771753	ADORA2B, ALKBH5, ATPAF2, CCDC144A, CENPV, COPS3, DRC3, DRG2, EVPLL, FAM106A, FAM106C, FBXW10, FLCN, FLII, FOXO3B, GID4, LGALS9C, LINC02076, LINC02087, LINC02090, LLGL1, LOC105371566, LOC106020709, LOC106020711, LOC108745275, LOC110121461, LOC111556156, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC126862514, LOC126862515, LOC126862516, LOC129390841, LOC129390842, LOC129390843, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC130060429, LOC130060430, LOC130060431, LOC130060432, LOC130060433, LOC132090457, LOC132090458, LOC284191, LRRC75A, MED9, MIEF2, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, RAI1, RAI1-AS1, RASD1, SHMT1, SMCR2, SMCR5, SMCR8, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TRPV2, TTC19, UBB, ZNF287, ZNF624, ZSWIM7		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 15334110.	GRCh38/hg38 17p12-11.2(chr17:15784832-16860143)x3 GRCh37: Chr17:15688146-16763457 GRCh38: Chr17:15784832-16860143	LOC116276455, LOC121587576, LOC121587577, LOC125177428, LOC126862514, LOC129390841, LOC129390842, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LRRC75A, MIR1288, NCOR1, PIGL, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, TRPV2, TTC19, UBB, ZNF287, ZNF624, ZSWIM7, ADORA2B, CCDC144A, CENPV, FAM106C, LINC02087, LOC106020709, LOC106020711, LOC108745275, LOC112529897		See cases	Uncertain significance (May 7, 2013)	no assertion criteria provided
Select item 15558311.	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1 GRCh37: Chr17:15754173-20552548 GRCh38: Chr17:15850859-20649235	LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC130060429, LOC130060430, LOC130060431, LOC130060432, LOC130060433, LOC130060434, LOC130060435, LOC130060436, LOC130060437, LOC130060438, LOC130060439, LOC130060440, LOC130060441, LOC130060442, LOC130060443, LOC130060444, LOC130060445, LOC130060446, LOC130060447, LOC130060448, LOC130060449, LOC130060450, LOC130060451, LOC130060452, LOC130060453, LOC130060454, LOC130060455, LOC130060456, LOC130060457, LOC130060458, LOC130060459, LOC130060460, LOC130060461, LOC130060462, LOC130060463, LOC130060464, LOC130060465, LOC130060466, LOC130060467, LOC130060468, LOC130060469, LOC130060470, LOC130060471, LOC130060472, LOC130060473, LOC130060474, LOC130060475, LOC130060476, LOC130060477, LOC130060478, LOC130060479, LOC130060480, LOC130060481, LOC132090457, LOC132090458, LOC132090459, LOC284191, LOC388436, LRRC75A, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORA59B, SNORD163, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SNORD49A, SNORD49B, SNORD65, SPECC1, SPECC1-DT, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRPV2, TRW-CCA2-1, TTC19, TVP23B, UBB, ULK2, ZNF287, ZNF624, ZSWIM7, ADORA2B, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CDRT15L2, CENPV, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02088, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC106020710, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862514, LOC126862515, LOC126862516, LOC126862517, LOC129390841, LOC129390842, LOC129390843, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408		See cases	Pathogenic (Oct 22, 2013)	no assertion criteria provided
Select item 15511012.	GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1 GRCh37: Chr17:15786351-20561331 GRCh38: Chr17:15883037-20658018	ADORA2B, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CDRT15L2, CENPV, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02088, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC106020710, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862514, LOC126862515, LOC126862516, LOC126862517, LOC129390841, LOC129390842, LOC129390843, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC130060429, LOC130060430, LOC130060431, LOC130060432, LOC130060433, LOC130060434, LOC130060435, LOC130060436, LOC130060437, LOC130060438, LOC130060439, LOC130060440, LOC130060441, LOC130060442, LOC130060443, LOC130060444, LOC130060445, LOC130060446, LOC130060447, LOC130060448, LOC130060449, LOC130060450, LOC130060451, LOC130060452, LOC130060453, LOC130060454, LOC130060455, LOC130060456, LOC130060457, LOC130060458, LOC130060459, LOC130060460, LOC130060461, LOC130060462, LOC130060463, LOC130060464, LOC130060465, LOC130060466, LOC130060467, LOC130060468, LOC130060469, LOC130060470, LOC130060471, LOC130060472, LOC130060473, LOC130060474, LOC130060475, LOC130060476, LOC130060477, LOC130060478, LOC130060479, LOC130060480, LOC130060481, LOC132090457, LOC132090458, LOC132090459, LOC284191, LOC388436, LRRC75A, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORA59B, SNORD163, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SNORD49A, SNORD49B, SNORD65, SPECC1, SPECC1-DT, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRPV2, TRW-CCA2-1, TTC19, TVP23B, UBB, ULK2, ZNF287, ZNF624, ZSWIM7		See cases	Pathogenic (Dec 10, 2012)	no assertion criteria provided
Select item 15069113.	GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1 GRCh37: Chr17:15786351-20524013 GRCh38: Chr17:15883037-20620700	ADORA2B, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CDRT15L2, CENPV, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02088, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC106020710, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862514, LOC126862515, LOC126862516, LOC126862517, LOC129390841, LOC129390842, LOC129390843, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC130060429, LOC130060430, LOC130060431, LOC130060432, LOC130060433, LOC130060434, LOC130060435, LOC130060436, LOC130060437, LOC130060438, LOC130060439, LOC130060440, LOC130060441, LOC130060442, LOC130060443, LOC130060444, LOC130060445, LOC130060446, LOC130060447, LOC130060448, LOC130060449, LOC130060450, LOC130060451, LOC130060452, LOC130060453, LOC130060454, LOC130060455, LOC130060456, LOC130060457, LOC130060458, LOC130060459, LOC130060460, LOC130060461, LOC130060462, LOC130060463, LOC130060464, LOC130060465, LOC130060466, LOC130060467, LOC130060468, LOC130060469, LOC130060470, LOC130060471, LOC130060472, LOC130060473, LOC130060474, LOC130060475, LOC130060476, LOC130060477, LOC130060478, LOC130060479, LOC130060480, LOC130060481, LOC132090457, LOC132090458, LOC132090459, LOC284191, LOC388436, LRRC75A, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORA59B, SNORD163, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SNORD49A, SNORD49B, SNORD65, SPECC1, SPECC1-DT, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRPV2, TRW-CCA2-1, TTC19, TVP23B, UBB, ULK2, ZNF287, ZNF624, ZSWIM7		See cases	Pathogenic (Jun 20, 2011)	no assertion criteria provided
Select item 5701814.	GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1 GRCh37: Chr17:15801346-20524013 GRCh38: Chr17:15898032-20620700	ADORA2B, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CDRT15L2, CENPV, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02088, LINC02090, LINC02094, LLGL1, LOC102724624, LOC105371566, LOC105371574, LOC106020709, LOC106020710, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862514, LOC126862515, LOC126862516, LOC126862517, LOC129390841, LOC129390842, LOC129390843, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC130060429, LOC130060430, LOC130060431, LOC130060432, LOC130060433, LOC130060434, LOC130060435, LOC130060436, LOC130060437, LOC130060438, LOC130060439, LOC130060440, LOC130060441, LOC130060442, LOC130060443, LOC130060444, LOC130060445, LOC130060446, LOC130060447, LOC130060448, LOC130060449, LOC130060450, LOC130060451, LOC130060452, LOC130060453, LOC130060454, LOC130060455, LOC130060456, LOC130060457, LOC130060458, LOC130060459, LOC130060460, LOC130060461, LOC130060462, LOC130060463, LOC130060464, LOC130060465, LOC130060466, LOC130060467, LOC130060468, LOC130060469, LOC130060470, LOC130060471, LOC130060472, LOC130060473, LOC130060474, LOC130060475, LOC130060476, LOC130060477, LOC130060478, LOC130060479, LOC130060480, LOC130060481, LOC132090457, LOC132090458, LOC132090459, LOC284191, LOC388436, LRRC75A, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORA59B, SNORD163, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SNORD49A, SNORD49B, SNORD65, SPECC1, SPECC1-DT, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRPV2, TRW-CCA2-1, TTC19, TVP23B, UBB, ULK2, ZNF287, ZNF624, ZSWIM7		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 6042915.	GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1 GRCh37: Chr17:15855385-18266133 GRCh38: Chr17:15952071-18362819	ADORA2B, ALKBH5, ATPAF2, CCDC144A, CENPV, COPS3, DRC3, DRG2, FAM106C, FLCN, FLII, GID4, LINC02090, LLGL1, LOC105371566, LOC106020709, LOC108745275, LOC110121461, LOC111556156, LOC112529897, LOC112529898, LOC112529899, LOC113939958, LOC116276455, LOC121587577, LOC121587578, LOC121587579, LOC121852924, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC126862514, LOC126862515, LOC126862516, LOC129390841, LOC129390842, LOC129390843, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC132090457, LOC132090458, LOC284191, LRRC75A, MED9, MIEF2, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, RAI1, RAI1-AS1, RASD1, SHMT1, SMCR2, SMCR5, SMCR8, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, SREBF1, TNFRSF13B, TOM1L2, TOP3A, TRPV2, TTC19, UBB, ZNF287, ZNF624, ZSWIM7		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 6043316.	GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1 GRCh37: Chr17:16021199-18266133 GRCh38: Chr17:16117885-18362819	ALKBH5, ATPAF2, CCDC144A, CENPV, COPS3, DRC3, DRG2, FAM106C, FLCN, FLII, GID4, LINC02090, LLGL1, LOC105371566, LOC106020709, LOC108745275, LOC110121461, LOC111556156, LOC112529897, LOC112529898, LOC112529899, LOC113939958, LOC116276455, LOC121587578, LOC121587579, LOC121852924, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC126862514, LOC126862515, LOC126862516, LOC129390842, LOC129390843, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC130060427, LOC130060428, LOC132090457, LOC132090458, LOC284191, LRRC75A, MED9, MIEF2, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, RAI1, RAI1-AS1, RASD1, SHMT1, SMCR2, SMCR5, SMCR8, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, SREBF1, TNFRSF13B, TOM1L2, TOP3A, TRPV2, UBB, ZNF287, ZNF624		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 209334217.	NC_000017.11:g.16216575_16217378del GRCh37: Chr17:16119887-16120690 GRCh38: Chr17:16216573-16217376	LOC130060313, PIGL		not provided	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 15971118.	NM_004278.4(PIGL):c.4G>A (p.Glu2Lys) GRCh37: Chr17:16120544 GRCh38: Chr17:16217230	PIGL, LOC130060313	E2K	not provided, CHIME syndrome	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139987119.	NM_004278.4(PIGL):c.6A>C (p.Glu2Asp) GRCh37: Chr17:16120546 GRCh38: Chr17:16217232	LOC130060313, PIGL	E2D	not provided	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 146187120.	NM_004278.4(PIGL):c.17T>G (p.Leu6Arg) GRCh37: Chr17:16120557 GRCh38: Chr17:16217243	PIGL	L6R	not provided	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 218024821.	NM_004278.4(PIGL):c.21G>A (p.Leu7=) GRCh37: Chr17:16120561 GRCh38: Chr17:16217247	PIGL		not provided	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 167818622.	NM_004278.4(PIGL):c.24T>G (p.Cys8Trp) GRCh37: Chr17:16120564 GRCh38: Chr17:16217250	PIGL	C8W	not provided	Uncertain significance (Apr 29, 2020)	criteria provided, single submitter
Select item 208814123.	NM_004278.4(PIGL):c.25G>T (p.Val9Leu) GRCh37: Chr17:16120565 GRCh38: Chr17:16217251	PIGL	V9L	not provided	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 15970224.	NM_004278.4(PIGL):c.30G>T (p.Ala10=) GRCh37: Chr17:16120570 GRCh38: Chr17:16217256	PIGL		CHIME syndrome	Uncertain significance (Feb 8, 2013)	criteria provided, single submitter
Select item 225055125.	NM_004278.4(PIGL):c.35C>A (p.Ala12Glu) GRCh37: Chr17:16120575 GRCh38: Chr17:16217261	PIGL	A12E	Inborn genetic diseases	Uncertain significance (Sep 16, 2021)	criteria provided, single submitter
Select item 26564126.	NM_004278.4(PIGL):c.60G>A (p.Trp20Ter) GRCh37: Chr17:16120600 GRCh38: Chr17:16217286	PIGL	W20*	not provided	Pathogenic (Mar 24, 2020)	criteria provided, single submitter
Select item 180984927.	NM_004278.4(PIGL):c.89G>A (p.Ser30Asn) GRCh37: Chr17:16120629 GRCh38: Chr17:16217315	PIGL	S30N	not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Aug 19, 2022)	criteria provided, conflicting interpretations
Select item 89182328.	NM_004278.4(PIGL):c.130C>T (p.Leu44=) GRCh37: Chr17:16120670 GRCh38: Chr17:16217356	PIGL		CHIME syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 208570829.	NM_004278.4(PIGL):c.132G>C (p.Leu44=) GRCh37: Chr17:16120672 GRCh38: Chr17:16217358	PIGL		not provided	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 76042030.	NM_004278.4(PIGL):c.144G>A (p.Ala48=) GRCh37: Chr17:16120684 GRCh38: Chr17:16217370	PIGL		not provided	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 152625231.	NM_004278.4(PIGL):c.154_161del (p.Asp52fs) GRCh37: Chr17:16120693-16120700 GRCh38: Chr17:16217379-16217386	PIGL	D52fs	CHIME syndrome	Likely pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 129930332.	NM_004278.4(PIGL):c.154G>A (p.Asp52Asn) GRCh37: Chr17:16120694 GRCh38: Chr17:16217380	PIGL	D52N	not provided	Likely pathogenic (Jun 17, 2019)	no assertion criteria provided
Select item 211065633.	NM_004278.4(PIGL):c.161C>T (p.Ala54Val) GRCh37: Chr17:16120701 GRCh38: Chr17:16217387	PIGL	A54V	not provided	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 142584034.	NM_004278.4(PIGL):c.163A>G (p.Met55Val) GRCh37: Chr17:16120703 GRCh38: Chr17:16217389	PIGL	M55V	Inborn genetic diseases, not provided	Uncertain significance (Sep 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15970135.	NM_004278.4(PIGL):c.169T>C (p.Phe57Leu) GRCh37: Chr17:16120709 GRCh38: Chr17:16217395	PIGL	F57L	CHIME syndrome	Uncertain significance (Feb 8, 2013)	criteria provided, single submitter
Select item 37417536.	NM_004278.4(PIGL):c.176C>A (p.Pro59His) GRCh37: Chr17:16120716 GRCh38: Chr17:16217402	PIGL	P59H	CHIME syndrome, Hypertelorism, Camptodactyly of finger, Premature birth, Wide intermamillary distance, Low-set ears, Bilateral cleft lip and palate, Postaxial hand polydactyly, Hypoplasia of scrotum	Uncertain significance (Jan 1, 2016)	criteria provided, single submitter
Select item 143095137.	NM_004278.4(PIGL):c.218T>C (p.Leu73Pro) GRCh37: Chr17:16120758 GRCh38: Chr17:16217444	PIGL	L73P	not provided	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 129498638.	NM_004278.4(PIGL):c.236-29del GRCh37: Chr17:16137245 GRCh38: Chr17:16233931	PIGL		not provided	Benign (May 24, 2021)	criteria provided, single submitter
Select item 32198639.	NM_004278.4(PIGL):c.258_259del (p.Glu86fs) GRCh37: Chr17:16137303-16137304 GRCh38: Chr17:16233989-16233990	PIGL	E86fs	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, CHIME syndrome	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 168720440.	NM_004278.4(PIGL):c.262C>G (p.Arg88Gly) GRCh37: Chr17:16137311 GRCh38: Chr17:16233997	PIGL	R88G	CHIME syndrome	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 42184841.	NM_004278.4(PIGL):c.262C>T (p.Arg88Cys) GRCh37: Chr17:16137311 GRCh38: Chr17:16233997	PIGL	R88C	not provided	Likely pathogenic (Mar 24, 2020)	criteria provided, single submitter
Select item 63845242.	NM_004278.4(PIGL):c.263G>A (p.Arg88His) GRCh37: Chr17:16137312 GRCh38: Chr17:16233998	PIGL	R88H	not provided, CHIME syndrome	Uncertain significance (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 206466043.	NM_004278.4(PIGL):c.271del (p.Glu91fs) GRCh37: Chr17:16137320 GRCh38: Chr17:16234006	PIGL	E91fs	not provided	Pathogenic (Oct 5, 2022)	criteria provided, single submitter
Select item 3054544.	NM_004278.4(PIGL):c.274del (p.Leu92fs) GRCh37: Chr17:16137323 GRCh38: Chr17:16234009	PIGL	L92fs	CHIME syndrome	Pathogenic (Apr 6, 2012)	no assertion criteria provided
Select item 103139845.	NM_004278.4(PIGL):c.296T>G (p.Leu99Trp) GRCh37: Chr17:16137345 GRCh38: Chr17:16234031	PIGL	L99W	CHIME syndrome	Uncertain significance (Sep 5, 2018)	criteria provided, single submitter
Select item 254432046.	NM_004278.4(PIGL):c.308T>C (p.Leu103Pro) GRCh37: Chr17:16137357 GRCh38: Chr17:16234043	PIGL	L103P	Inborn genetic diseases	Likely benign (May 5, 2023)	criteria provided, single submitter
Select item 71411247.	NM_004278.4(PIGL):c.333C>A (p.Asn111Lys) GRCh37: Chr17:16137382 GRCh38: Chr17:16234068	PIGL	N111K	not provided	Likely benign (Jul 26, 2017)	criteria provided, single submitter
Select item 69781448.	NM_004278.4(PIGL):c.333C>T (p.Asn111=) GRCh37: Chr17:16137382 GRCh38: Chr17:16234068	PIGL		not provided	Likely benign (Aug 24, 2018)	criteria provided, single submitter
Select item 216274549.	NM_004278.4(PIGL):c.335+9T>C GRCh37: Chr17:16137393 GRCh38: Chr17:16234079	PIGL		not provided	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 241531350.	NM_004278.4(PIGL):c.336-14C>T GRCh37: Chr17:16203188 GRCh38: Chr17:16299874	PIGL		not provided	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 217357551.	NM_004278.4(PIGL):c.336-3T>C GRCh37: Chr17:16203199 GRCh38: Chr17:16299885	PIGL		not provided	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 63226852.	NM_004278.4(PIGL):c.336-2A>G GRCh37: Chr17:16203200 GRCh38: Chr17:16299886	PIGL		CHIME syndrome, not provided	Conflicting interpretations of pathogenicity (Apr 28, 2022)	criteria provided, conflicting interpretations
Select item 15970353.	NM_004278.4(PIGL):c.337G>T (p.Asp113Tyr) GRCh37: Chr17:16203203 GRCh38: Chr17:16299889	PIGL	D113Y	not provided, CHIME syndrome	Conflicting interpretations of pathogenicity (Sep 21, 2022)	criteria provided, conflicting interpretations
Select item 64755954.	NM_004278.4(PIGL):c.346G>A (p.Asp116Asn) GRCh37: Chr17:16203212 GRCh38: Chr17:16299898	PIGL	D116N	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 15970455.	NM_004278.4(PIGL):c.354A>G (p.Pro118=) GRCh37: Chr17:16203220 GRCh38: Chr17:16299906	PIGL		not provided, CHIME syndrome	Conflicting interpretations of pathogenicity (Aug 1, 2023)	criteria provided, conflicting interpretations
Select item 71213056.	NM_004278.4(PIGL):c.384C>T (p.Ala128=) GRCh37: Chr17:16203250 GRCh38: Chr17:16299936	PIGL		not provided	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 86022957.	NM_004278.4(PIGL):c.385A>G (p.Arg129Gly) GRCh37: Chr17:16203251 GRCh38: Chr17:16299937	PIGL	R129G	not provided	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 89182458.	NM_004278.4(PIGL):c.398A>G (p.Gln133Arg) GRCh37: Chr17:16203264 GRCh38: Chr17:16299950	PIGL	Q133R	CHIME syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32198759.	NM_004278.4(PIGL):c.420C>T (p.Ile140=) GRCh37: Chr17:16203286 GRCh38: Chr17:16299972	PIGL		Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, CHIME syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 15970560.	NM_004278.4(PIGL):c.424C>A (p.Leu142Met) GRCh37: Chr17:16203290 GRCh38: Chr17:16299976	PIGL	L142M	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, not specified, not provided, CHIME syndrome	Conflicting interpretations of pathogenicity (Sep 1, 2023)	criteria provided, conflicting interpretations
Select item 165706561.	NM_004278.4(PIGL):c.426+8G>T GRCh37: Chr17:16203300 GRCh38: Chr17:16299986	PIGL		not provided	Likely benign (Mar 2, 2021)	criteria provided, single submitter
Select item 15970762.	NM_004278.4(PIGL):c.426+8G>A GRCh37: Chr17:16203300 GRCh38: Chr17:16299986	PIGL		CHIME syndrome	Uncertain significance (Feb 8, 2013)	criteria provided, single submitter
Select item 72487163.	NM_004278.4(PIGL):c.426+10C>T GRCh37: Chr17:16203302 GRCh38: Chr17:16299988	PIGL		not provided	Likely benign (Dec 23, 2020)	criteria provided, single submitter
Select item 15970664.	NM_004278.4(PIGL):c.426+14T>C GRCh37: Chr17:16203306 GRCh38: Chr17:16299992	PIGL		CHIME syndrome	Uncertain significance (Feb 8, 2013)	criteria provided, single submitter
Select item 127765765.	NM_004278.4(PIGL):c.427-256A>C GRCh37: Chr17:16216605 GRCh38: Chr17:16313291	PIGL		not provided	Benign (Jul 27, 2018)	criteria provided, single submitter
Select item 3054766.	NM_004278.4(PIGL):c.427-1G>A GRCh37: Chr17:16216860 GRCh38: Chr17:16313546	PIGL		CHIME syndrome	Pathogenic (Apr 6, 2012)	no assertion criteria provided
Select item 134151367.	NM_004278.4(PIGL):c.438C>A (p.Phe146Leu) GRCh37: Chr17:16216872 GRCh38: Chr17:16313558	PIGL	F146L	not provided	Likely pathogenic (Apr 13, 2023)	criteria provided, single submitter
Select item 15970868.	NM_004278.4(PIGL):c.439G>A (p.Asp147Asn) GRCh37: Chr17:16216873 GRCh38: Chr17:16313559	PIGL	D147N	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, Inborn genetic diseases, not provided, CHIME syndrome	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32198869.	NM_004278.4(PIGL):c.446G>C (p.Gly149Ala) GRCh37: Chr17:16216880 GRCh38: Chr17:16313566	PIGL	G149A	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, CHIME syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 97120870.	NM_004278.4(PIGL):c.473T>C (p.Ile158Thr) GRCh37: Chr17:16216907 GRCh38: Chr17:16313593	PIGL	I158T	not provided	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 15970971.	NM_004278.4(PIGL):c.480G>A (p.Leu160=) GRCh37: Chr17:16216914 GRCh38: Chr17:16313600	PIGL		CHIME syndrome	Uncertain significance (Feb 8, 2013)	criteria provided, single submitter
Select item 15971072.	NM_004278.4(PIGL):c.493A>C (p.Arg165=) GRCh37: Chr17:16216927 GRCh38: Chr17:16313613	PIGL		not provided, CHIME syndrome	Uncertain significance (Aug 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132490773.	NM_004278.4(PIGL):c.494+1G>A GRCh37: Chr17:16216929 GRCh38: Chr17:16313615	PIGL		CHIME syndrome	Likely pathogenic (Jan 22, 2019)	criteria provided, single submitter
Select item 207271474.	NM_004278.4(PIGL):c.494+13G>A GRCh37: Chr17:16216941 GRCh38: Chr17:16313627	PIGL		not provided	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 126284075.	NM_004278.4(PIGL):c.494+60G>C GRCh37: Chr17:16216988 GRCh38: Chr17:16313674	PIGL		not provided	Benign (Jun 17, 2019)	criteria provided, single submitter
Select item 126158876.	NM_004278.4(PIGL):c.495-203C>T GRCh37: Chr17:16219792 GRCh38: Chr17:16316478	PIGL		not provided	Benign (Jul 27, 2018)	criteria provided, single submitter
Select item 170712977.	NM_004278.4(PIGL):c.495-65C>G GRCh37: Chr17:16219930 GRCh38: Chr17:16316616	PIGL		not provided	Likely benign (Nov 20, 2021)	criteria provided, single submitter
Select item 3054478.	NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) GRCh37: Chr17:16220000 GRCh38: Chr17:16316686	PIGL	L167P	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, Inborn genetic diseases, not provided, CHIME syndrome, Bilateral cleft lip and palate, Wide intermamillary distance, Hypoplasia of scrotum, Low-set ears, Camptodactyly of finger, Premature birth, HypertelorismPostaxial hand polydactyly, ...see more	Conflicting interpretations of pathogenicity (Jul 4, 2023)	criteria provided, conflicting interpretations
Select item 15971279.	NM_004278.4(PIGL):c.526+10G>A GRCh37: Chr17:16220036 GRCh38: Chr17:16316722	PIGL		Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, not provided, CHIME syndrome	Conflicting interpretations of pathogenicity (Oct 4, 2022)	criteria provided, conflicting interpretations
Select item 219493480.	NM_004278.4(PIGL):c.527-17G>C GRCh37: Chr17:16221072 GRCh38: Chr17:16317758	PIGL		not provided	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 201582581.	NM_004278.4(PIGL):c.527-9T>C GRCh37: Chr17:16221080 GRCh38: Chr17:16317766	PIGL		not provided	Likely benign (Jul 10, 2022)	criteria provided, single submitter
Select item 204097982.	NM_004278.4(PIGL):c.527-5T>C GRCh37: Chr17:16221084 GRCh38: Chr17:16317770	PIGL		not provided	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 15971383.	NM_004278.4(PIGL):c.534T>C (p.Ser178=) GRCh37: Chr17:16221096 GRCh38: Chr17:16317782	PIGL		CHIME syndrome	Uncertain significance (Mar 4, 2013)	criteria provided, single submitter
Select item 88938084.	NM_004278.4(PIGL):c.535G>T (p.Val179Leu) GRCh37: Chr17:16221097 GRCh38: Chr17:16317783	PIGL	V179L	CHIME syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 15971485.	NM_004278.4(PIGL):c.535G>A (p.Val179Met) GRCh37: Chr17:16221097 GRCh38: Chr17:16317783	PIGL	V179M	CHIME syndrome	Uncertain significance (Feb 8, 2013)	criteria provided, single submitter
Select item 15971586.	NM_004278.4(PIGL):c.540C>T (p.Leu180=) GRCh37: Chr17:16221102 GRCh38: Chr17:16317788	PIGL		CHIME syndrome	Uncertain significance (Feb 8, 2013)	criteria provided, single submitter
Select item 32198987.	NM_004278.4(PIGL):c.542C>T (p.Thr181Met) GRCh37: Chr17:16221104 GRCh38: Chr17:16317790	PIGL	T181M	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, not provided, CHIME syndrome	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205908288.	NM_004278.4(PIGL):c.543G>A (p.Thr181=) GRCh37: Chr17:16221105 GRCh38: Chr17:16317791	PIGL	A171T	not provided	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 193124189.	NM_004278.4(PIGL):c.567C>A (p.Arg189=) GRCh37: Chr17:16221129 GRCh38: Chr17:16317815	PIGL	Q179K	not provided	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 15971690.	NM_004278.4(PIGL):c.595T>C (p.Leu199=) GRCh37: Chr17:16221157 GRCh38: Chr17:16317843	PIGL		not provided, CHIME syndrome	Conflicting interpretations of pathogenicity (Sep 6, 2022)	criteria provided, conflicting interpretations
Select item 238141091.	NM_004278.4(PIGL):c.596T>C (p.Leu199Ser) GRCh37: Chr17:16221158 GRCh38: Chr17:16317844	PIGL	L199S	Inborn genetic diseases	Uncertain significance (May 10, 2021)	criteria provided, single submitter
Select item 147442092.	NM_004278.4(PIGL):c.605T>C (p.Leu202Pro) GRCh37: Chr17:16221167 GRCh38: Chr17:16317853	PIGL	L202P	not provided, Inborn genetic diseases	Uncertain significance (Nov 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 190993893.	NM_004278.4(PIGL):c.607C>G (p.His203Asp) GRCh37: Chr17:16221169 GRCh38: Chr17:16317855	PIGL	S192*, H203D	not provided	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 239027694.	NM_004278.4(PIGL):c.611C>A (p.Thr204Lys) GRCh37: Chr17:16221173 GRCh38: Chr17:16317859	PIGL	T204K, Y193*	Inborn genetic diseases	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 205771095.	NM_004278.4(PIGL):c.611C>T (p.Thr204Met) GRCh37: Chr17:16221173 GRCh38: Chr17:16317859	PIGL	T204M	not provided	Uncertain significance (Jun 11, 2022)	criteria provided, single submitter
Select item 15971796.	NM_004278.4(PIGL):c.627C>T (p.Phe209=) GRCh37: Chr17:16221189 GRCh38: Chr17:16317875	PIGL		not provided, CHIME syndrome	Conflicting interpretations of pathogenicity (Jan 1, 2023)	criteria provided, conflicting interpretations
Select item 216062097.	NM_004278.4(PIGL):c.628G>A (p.Val210Met) GRCh37: Chr17:16221190 GRCh38: Chr17:16317876	PIGL	V210M, R199H	not provided	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 215687598.	NM_004278.4(PIGL):c.632T>C (p.Leu211Pro) GRCh37: Chr17:16221194 GRCh38: Chr17:16317880	PIGL	L211P	not provided	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 207418899.	NM_004278.4(PIGL):c.636C>T (p.Asn212=) GRCh37: Chr17:16221198 GRCh38: Chr17:16317884	PIGL	Q202*	not provided	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 159718100.	NM_004278.4(PIGL):c.652C>G (p.Gln218Glu) GRCh37: Chr17:16221214 GRCh38: Chr17:16317900	PIGL	Q218E	CHIME syndrome	Uncertain significance (Feb 8, 2013)	criteria provided, single submitter

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