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Items: 1 to 100 of 156

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
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 specifiedPathogenic
(Sep 28, 2022)
criteria provided, single submitter
3.
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 casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
4.
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 casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
5.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
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 casesPathogenic
(Nov 5, 2013)
no assertion criteria provided
8.
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 casesPathogenic
(Jun 25, 2013)
no assertion criteria provided
9.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
10.
GRCh37:
Chr17:15688146-16763457
GRCh38:
Chr17:15784832-16860143
See casesUncertain significance
(May 7, 2013)
no assertion criteria provided
11.
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 casesPathogenic
(Oct 22, 2013)
no assertion criteria provided
12.
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 casesPathogenic
(Dec 10, 2012)
no assertion criteria provided
13.
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 casesPathogenic
(Jun 20, 2011)
no assertion criteria provided
14.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
15.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
16.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
17.
GRCh37:
Chr17:16119887-16120690
GRCh38:
Chr17:16216573-16217376
LOC130060313, PIGLnot providedUncertain significance
(Aug 15, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr17:16120544
GRCh38:
Chr17:16217230
PIGL, LOC130060313E2Knot provided, CHIME syndromeUncertain significance
(Aug 31, 2022)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr17:16120546
GRCh38:
Chr17:16217232
LOC130060313, PIGLE2Dnot providedUncertain significance
(Oct 18, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr17:16120557
GRCh38:
Chr17:16217243
PIGLL6Rnot providedUncertain significance
(Aug 20, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr17:16120561
GRCh38:
Chr17:16217247
PIGLnot providedLikely benign
(May 16, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr17:16120564
GRCh38:
Chr17:16217250
PIGLC8Wnot providedUncertain significance
(Apr 29, 2020)
criteria provided, single submitter
23.
GRCh37:
Chr17:16120565
GRCh38:
Chr17:16217251
PIGLV9Lnot providedUncertain significance
(Jan 19, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr17:16120570
GRCh38:
Chr17:16217256
PIGLCHIME syndromeUncertain significance
(Feb 8, 2013)
criteria provided, single submitter
25.
GRCh37:
Chr17:16120575
GRCh38:
Chr17:16217261
PIGLA12EInborn genetic diseasesUncertain significance
(Sep 16, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr17:16120600
GRCh38:
Chr17:16217286
PIGLW20*not providedPathogenic
(Mar 24, 2020)
criteria provided, single submitter
27.
GRCh37:
Chr17:16120629
GRCh38:
Chr17:16217315
PIGLS30Nnot provided, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Aug 19, 2022)
criteria provided, conflicting interpretations
28.
GRCh37:
Chr17:16120670
GRCh38:
Chr17:16217356
PIGLCHIME syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr17:16120672
GRCh38:
Chr17:16217358
PIGLnot providedLikely benign
(Oct 7, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr17:16120684
GRCh38:
Chr17:16217370
PIGLnot providedLikely benign
(Jun 10, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr17:16120693-16120700
GRCh38:
Chr17:16217379-16217386
PIGLD52fsCHIME syndromeLikely pathogenic
(Mar 22, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr17:16120694
GRCh38:
Chr17:16217380
PIGLD52Nnot providedLikely pathogenic
(Jun 17, 2019)
no assertion criteria provided
33.
GRCh37:
Chr17:16120701
GRCh38:
Chr17:16217387
PIGLA54Vnot providedUncertain significance
(Mar 28, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr17:16120703
GRCh38:
Chr17:16217389
PIGLM55VInborn genetic diseases, not providedUncertain significance
(Sep 16, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr17:16120709
GRCh38:
Chr17:16217395
PIGLF57LCHIME syndromeUncertain significance
(Feb 8, 2013)
criteria provided, single submitter
36.
GRCh37:
Chr17:16120716
GRCh38:
Chr17:16217402
PIGLP59HCHIME 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
37.
GRCh37:
Chr17:16120758
GRCh38:
Chr17:16217444
PIGLL73Pnot providedUncertain significance
(Jul 25, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr17:16137245
GRCh38:
Chr17:16233931
PIGLnot providedBenign
(May 24, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr17:16137303-16137304
GRCh38:
Chr17:16233989-16233990
PIGLE86fsColoboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, CHIME syndromeUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
40.
GRCh37:
Chr17:16137311
GRCh38:
Chr17:16233997
PIGLR88GCHIME syndromeUncertain significance
(May 22, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr17:16137311
GRCh38:
Chr17:16233997
PIGLR88Cnot providedLikely pathogenic
(Mar 24, 2020)
criteria provided, single submitter
42.
GRCh37:
Chr17:16137312
GRCh38:
Chr17:16233998
PIGLR88Hnot provided, CHIME syndromeUncertain significance
(Aug 24, 2021)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr17:16137320
GRCh38:
Chr17:16234006
PIGLE91fsnot providedPathogenic
(Oct 5, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr17:16137323
GRCh38:
Chr17:16234009
PIGLL92fsCHIME syndromePathogenic
(Apr 6, 2012)
no assertion criteria provided
45.
GRCh37:
Chr17:16137345
GRCh38:
Chr17:16234031
PIGLL99WCHIME syndromeUncertain significance
(Sep 5, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr17:16137357
GRCh38:
Chr17:16234043
PIGLL103PInborn genetic diseasesLikely benign
(May 5, 2023)
criteria provided, single submitter
47.
GRCh37:
Chr17:16137382
GRCh38:
Chr17:16234068
PIGLN111Knot providedLikely benign
(Jul 26, 2017)
criteria provided, single submitter
48.
GRCh37:
Chr17:16137382
GRCh38:
Chr17:16234068
PIGLnot providedLikely benign
(Aug 24, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr17:16137393
GRCh38:
Chr17:16234079
PIGLnot providedLikely benign
(Apr 18, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr17:16203188
GRCh38:
Chr17:16299874
PIGLnot providedLikely benign
(Apr 18, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr17:16203199
GRCh38:
Chr17:16299885
PIGLnot providedUncertain significance
(May 11, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr17:16203200
GRCh38:
Chr17:16299886
PIGLCHIME syndrome, not providedConflicting interpretations of pathogenicity
(Apr 28, 2022)
criteria provided, conflicting interpretations
53.
GRCh37:
Chr17:16203203
GRCh38:
Chr17:16299889
PIGLD113Ynot provided, CHIME syndromeConflicting interpretations of pathogenicity
(Sep 21, 2022)
criteria provided, conflicting interpretations
54.
GRCh37:
Chr17:16203212
GRCh38:
Chr17:16299898
PIGLD116Nnot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr17:16203220
GRCh38:
Chr17:16299906
PIGLnot provided, CHIME syndromeConflicting interpretations of pathogenicity
(Aug 1, 2023)
criteria provided, conflicting interpretations
56.
GRCh37:
Chr17:16203250
GRCh38:
Chr17:16299936
PIGLnot providedLikely benign
(Jul 30, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr17:16203251
GRCh38:
Chr17:16299937
PIGLR129Gnot providedUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr17:16203264
GRCh38:
Chr17:16299950
PIGLQ133RCHIME syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr17:16203286
GRCh38:
Chr17:16299972
PIGLColoboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, CHIME syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr17:16203290
GRCh38:
Chr17:16299976
PIGLL142MColoboma, 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
61.
GRCh37:
Chr17:16203300
GRCh38:
Chr17:16299986
PIGLnot providedLikely benign
(Mar 2, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr17:16203300
GRCh38:
Chr17:16299986
PIGLCHIME syndromeUncertain significance
(Feb 8, 2013)
criteria provided, single submitter
63.
GRCh37:
Chr17:16203302
GRCh38:
Chr17:16299988
PIGLnot providedLikely benign
(Dec 23, 2020)
criteria provided, single submitter
64.
GRCh37:
Chr17:16203306
GRCh38:
Chr17:16299992
PIGLCHIME syndromeUncertain significance
(Feb 8, 2013)
criteria provided, single submitter
65.
GRCh37:
Chr17:16216605
GRCh38:
Chr17:16313291
PIGLnot providedBenign
(Jul 27, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr17:16216860
GRCh38:
Chr17:16313546
PIGLCHIME syndromePathogenic
(Apr 6, 2012)
no assertion criteria provided
67.
GRCh37:
Chr17:16216872
GRCh38:
Chr17:16313558
PIGLF146Lnot providedLikely pathogenic
(Apr 13, 2023)
criteria provided, single submitter
68.
GRCh37:
Chr17:16216873
GRCh38:
Chr17:16313559
PIGLD147NColoboma, 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
69.
GRCh37:
Chr17:16216880
GRCh38:
Chr17:16313566
PIGLG149AColoboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, CHIME syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr17:16216907
GRCh38:
Chr17:16313593
PIGLI158Tnot providedUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr17:16216914
GRCh38:
Chr17:16313600
PIGLCHIME syndromeUncertain significance
(Feb 8, 2013)
criteria provided, single submitter
72.
GRCh37:
Chr17:16216927
GRCh38:
Chr17:16313613
PIGLnot provided, CHIME syndromeUncertain significance
(Aug 11, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr17:16216929
GRCh38:
Chr17:16313615
PIGLCHIME syndromeLikely pathogenic
(Jan 22, 2019)
criteria provided, single submitter
74.
GRCh37:
Chr17:16216941
GRCh38:
Chr17:16313627
PIGLnot providedLikely benign
(May 9, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr17:16216988
GRCh38:
Chr17:16313674
PIGLnot providedBenign
(Jun 17, 2019)
criteria provided, single submitter
76.
GRCh37:
Chr17:16219792
GRCh38:
Chr17:16316478
PIGLnot providedBenign
(Jul 27, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr17:16219930
GRCh38:
Chr17:16316616
PIGLnot providedLikely benign
(Nov 20, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr17:16220000
GRCh38:
Chr17:16316686
PIGLL167PColoboma, 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
79.
GRCh37:
Chr17:16220036
GRCh38:
Chr17:16316722
PIGLColoboma, 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
80.
GRCh37:
Chr17:16221072
GRCh38:
Chr17:16317758
PIGLnot providedLikely benign
(Oct 25, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr17:16221080
GRCh38:
Chr17:16317766
PIGLnot providedLikely benign
(Jul 10, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr17:16221084
GRCh38:
Chr17:16317770
PIGLnot providedLikely benign
(May 20, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr17:16221096
GRCh38:
Chr17:16317782
PIGLCHIME syndromeUncertain significance
(Mar 4, 2013)
criteria provided, single submitter
84.
GRCh37:
Chr17:16221097
GRCh38:
Chr17:16317783
PIGLV179LCHIME syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr17:16221097
GRCh38:
Chr17:16317783
PIGLV179MCHIME syndromeUncertain significance
(Feb 8, 2013)
criteria provided, single submitter
86.
GRCh37:
Chr17:16221102
GRCh38:
Chr17:16317788
PIGLCHIME syndromeUncertain significance
(Feb 8, 2013)
criteria provided, single submitter
87.
GRCh37:
Chr17:16221104
GRCh38:
Chr17:16317790
PIGLT181MColoboma, 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
88.
GRCh37:
Chr17:16221105
GRCh38:
Chr17:16317791
PIGLA171Tnot providedLikely benign
(Jun 14, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr17:16221129
GRCh38:
Chr17:16317815
PIGLQ179Knot providedLikely benign
(Jul 5, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr17:16221157
GRCh38:
Chr17:16317843
PIGLnot provided, CHIME syndromeConflicting interpretations of pathogenicity
(Sep 6, 2022)
criteria provided, conflicting interpretations
91.
GRCh37:
Chr17:16221158
GRCh38:
Chr17:16317844
PIGLL199SInborn genetic diseasesUncertain significance
(May 10, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr17:16221167
GRCh38:
Chr17:16317853
PIGLL202Pnot provided, Inborn genetic diseasesUncertain significance
(Nov 19, 2021)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr17:16221169
GRCh38:
Chr17:16317855
PIGLS192*, H203Dnot providedUncertain significance
(Aug 31, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr17:16221173
GRCh38:
Chr17:16317859
PIGLT204K, Y193*Inborn genetic diseasesUncertain significance
(Apr 7, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr17:16221173
GRCh38:
Chr17:16317859
PIGLT204Mnot providedUncertain significance
(Jun 11, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr17:16221189
GRCh38:
Chr17:16317875
PIGLnot provided, CHIME syndromeConflicting interpretations of pathogenicity
(Jan 1, 2023)
criteria provided, conflicting interpretations
97.
GRCh37:
Chr17:16221190
GRCh38:
Chr17:16317876
PIGLV210M, R199Hnot providedUncertain significance
(Aug 5, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr17:16221194
GRCh38:
Chr17:16317880
PIGLL211Pnot providedUncertain significance
(Aug 15, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr17:16221198
GRCh38:
Chr17:16317884
PIGLQ202*not providedLikely benign
(Apr 8, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr17:16221214
GRCh38:
Chr17:16317900
PIGLQ218ECHIME syndromeUncertain significance
(Feb 8, 2013)
criteria provided, single submitter
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