| - 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 |
| - 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 |
| - 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 |
| - 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 |
| - 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 |
| - 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 |
| - 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 |
| - 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 |
| - 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 |
| - 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 |
| - 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 |
| - 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 |
| - 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 |
| - 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 |
| - 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 |
| - 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 |
| - GRCh37:
- Chr17:16119887-16120690
- GRCh38:
- Chr17:16216573-16217376
| LOC130060313, PIGL | | not provided | Uncertain significance (Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16120544
- GRCh38:
- Chr17:16217230
| PIGL, LOC130060313 | E2K | not provided, CHIME syndrome | Uncertain significance (Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:16120546
- GRCh38:
- Chr17:16217232
| LOC130060313, PIGL | E2D | not provided | Uncertain significance (Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16120557
- GRCh38:
- Chr17:16217243
| PIGL | L6R | not provided | Uncertain significance (Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16120561
- GRCh38:
- Chr17:16217247
| PIGL | | not provided | Likely benign (May 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16120564
- GRCh38:
- Chr17:16217250
| PIGL | C8W | not provided | Uncertain significance (Apr 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16120565
- GRCh38:
- Chr17:16217251
| PIGL | V9L | not provided | Uncertain significance (Jan 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16120570
- GRCh38:
- Chr17:16217256
| PIGL | | CHIME syndrome | Uncertain significance (Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16120575
- GRCh38:
- Chr17:16217261
| PIGL | A12E | Inborn genetic diseases | Uncertain significance (Sep 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16120600
- GRCh38:
- Chr17:16217286
| PIGL | W20* | not provided | Pathogenic (Mar 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16120629
- GRCh38:
- Chr17:16217315
| PIGL | S30N | not provided, Inborn genetic diseases | Conflicting interpretations of pathogenicity (Aug 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:16120670
- GRCh38:
- Chr17:16217356
| PIGL | | CHIME syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16120672
- GRCh38:
- Chr17:16217358
| PIGL | | not provided | Likely benign (Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16120684
- GRCh38:
- Chr17:16217370
| PIGL | | not provided | Likely benign (Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16120693-16120700
- GRCh38:
- Chr17:16217379-16217386
| PIGL | D52fs | CHIME syndrome | Likely pathogenic (Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16120694
- GRCh38:
- Chr17:16217380
| PIGL | D52N | not provided | Likely pathogenic (Jun 17, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr17:16120701
- GRCh38:
- Chr17:16217387
| PIGL | A54V | not provided | Uncertain significance (Mar 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16120703
- GRCh38:
- Chr17:16217389
| PIGL | M55V | Inborn genetic diseases, not provided | Uncertain significance (Sep 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:16120709
- GRCh38:
- Chr17:16217395
| PIGL | F57L | CHIME syndrome | Uncertain significance (Feb 8, 2013) | criteria provided, single submitter |
| - 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 |
| - GRCh37:
- Chr17:16120758
- GRCh38:
- Chr17:16217444
| PIGL | L73P | not provided | Uncertain significance (Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16137245
- GRCh38:
- Chr17:16233931
| PIGL | | not provided | Benign (May 24, 2021) | criteria provided, single submitter |
| - 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 |
| - GRCh37:
- Chr17:16137311
- GRCh38:
- Chr17:16233997
| PIGL | R88G | CHIME syndrome | Uncertain significance (May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16137311
- GRCh38:
- Chr17:16233997
| PIGL | R88C | not provided | Likely pathogenic (Mar 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16137312
- GRCh38:
- Chr17:16233998
| PIGL | R88H | not provided, CHIME syndrome | Uncertain significance (Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:16137320
- GRCh38:
- Chr17:16234006
| PIGL | E91fs | not provided | Pathogenic (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16137323
- GRCh38:
- Chr17:16234009
| PIGL | L92fs | CHIME syndrome | Pathogenic (Apr 6, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr17:16137345
- GRCh38:
- Chr17:16234031
| PIGL | L99W | CHIME syndrome | Uncertain significance (Sep 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16137357
- GRCh38:
- Chr17:16234043
| PIGL | L103P | Inborn genetic diseases | Likely benign (May 5, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16137382
- GRCh38:
- Chr17:16234068
| PIGL | N111K | not provided | Likely benign (Jul 26, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16137382
- GRCh38:
- Chr17:16234068
| PIGL | | not provided | Likely benign (Aug 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16137393
- GRCh38:
- Chr17:16234079
| PIGL | | not provided | Likely benign (Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16203188
- GRCh38:
- Chr17:16299874
| PIGL | | not provided | Likely benign (Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16203199
- GRCh38:
- Chr17:16299885
| PIGL | | not provided | Uncertain significance (May 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16203200
- GRCh38:
- Chr17:16299886
| PIGL | | CHIME syndrome, not provided | Conflicting interpretations of pathogenicity (Apr 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:16203203
- GRCh38:
- Chr17:16299889
| PIGL | D113Y | not provided, CHIME syndrome | Conflicting interpretations of pathogenicity (Sep 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:16203212
- GRCh38:
- Chr17:16299898
| PIGL | D116N | not provided | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16203220
- GRCh38:
- Chr17:16299906
| PIGL | | not provided, CHIME syndrome | Conflicting interpretations of pathogenicity (Aug 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:16203250
- GRCh38:
- Chr17:16299936
| PIGL | | not provided | Likely benign (Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16203251
- GRCh38:
- Chr17:16299937
| PIGL | R129G | not provided | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16203264
- GRCh38:
- Chr17:16299950
| PIGL | Q133R | CHIME syndrome | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - 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 |
| - 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 |
| - GRCh37:
- Chr17:16203300
- GRCh38:
- Chr17:16299986
| PIGL | | not provided | Likely benign (Mar 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16203300
- GRCh38:
- Chr17:16299986
| PIGL | | CHIME syndrome | Uncertain significance (Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16203302
- GRCh38:
- Chr17:16299988
| PIGL | | not provided | Likely benign (Dec 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16203306
- GRCh38:
- Chr17:16299992
| PIGL | | CHIME syndrome | Uncertain significance (Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16216605
- GRCh38:
- Chr17:16313291
| PIGL | | not provided | Benign (Jul 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16216860
- GRCh38:
- Chr17:16313546
| PIGL | | CHIME syndrome | Pathogenic (Apr 6, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr17:16216872
- GRCh38:
- Chr17:16313558
| PIGL | F146L | not provided | Likely pathogenic (Apr 13, 2023) | criteria provided, single submitter |
| - 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 |
| - 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 |
| - GRCh37:
- Chr17:16216907
- GRCh38:
- Chr17:16313593
| PIGL | I158T | not provided | Uncertain significance (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16216914
- GRCh38:
- Chr17:16313600
| PIGL | | CHIME syndrome | Uncertain significance (Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16216927
- GRCh38:
- Chr17:16313613
| PIGL | | not provided, CHIME syndrome | Uncertain significance (Aug 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:16216929
- GRCh38:
- Chr17:16313615
| PIGL | | CHIME syndrome | Likely pathogenic (Jan 22, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16216941
- GRCh38:
- Chr17:16313627
| PIGL | | not provided | Likely benign (May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16216988
- GRCh38:
- Chr17:16313674
| PIGL | | not provided | Benign (Jun 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16219792
- GRCh38:
- Chr17:16316478
| PIGL | | not provided | Benign (Jul 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16219930
- GRCh38:
- Chr17:16316616
| PIGL | | not provided | Likely benign (Nov 20, 2021) | criteria provided, single submitter |
| - 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 |
| - 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 |
| - GRCh37:
- Chr17:16221072
- GRCh38:
- Chr17:16317758
| PIGL | | not provided | Likely benign (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16221080
- GRCh38:
- Chr17:16317766
| PIGL | | not provided | Likely benign (Jul 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16221084
- GRCh38:
- Chr17:16317770
| PIGL | | not provided | Likely benign (May 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16221096
- GRCh38:
- Chr17:16317782
| PIGL | | CHIME syndrome | Uncertain significance (Mar 4, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16221097
- GRCh38:
- Chr17:16317783
| PIGL | V179L | CHIME syndrome | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16221097
- GRCh38:
- Chr17:16317783
| PIGL | V179M | CHIME syndrome | Uncertain significance (Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16221102
- GRCh38:
- Chr17:16317788
| PIGL | | CHIME syndrome | Uncertain significance (Feb 8, 2013) | criteria provided, single submitter |
| - 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 |
| - GRCh37:
- Chr17:16221105
- GRCh38:
- Chr17:16317791
| PIGL | A171T | not provided | Likely benign (Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16221129
- GRCh38:
- Chr17:16317815
| PIGL | Q179K | not provided | Likely benign (Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16221157
- GRCh38:
- Chr17:16317843
| PIGL | | not provided, CHIME syndrome | Conflicting interpretations of pathogenicity (Sep 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:16221158
- GRCh38:
- Chr17:16317844
| PIGL | L199S | Inborn genetic diseases | Uncertain significance (May 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16221167
- GRCh38:
- Chr17:16317853
| PIGL | L202P | not provided, Inborn genetic diseases | Uncertain significance (Nov 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:16221169
- GRCh38:
- Chr17:16317855
| PIGL | S192*, H203D | not provided | Uncertain significance (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16221173
- GRCh38:
- Chr17:16317859
| PIGL | T204K, Y193* | Inborn genetic diseases | Uncertain significance (Apr 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16221173
- GRCh38:
- Chr17:16317859
| PIGL | T204M | not provided | Uncertain significance (Jun 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16221189
- GRCh38:
- Chr17:16317875
| PIGL | | not provided, CHIME syndrome | Conflicting interpretations of pathogenicity (Jan 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:16221190
- GRCh38:
- Chr17:16317876
| PIGL | V210M, R199H | not provided | Uncertain significance (Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16221194
- GRCh38:
- Chr17:16317880
| PIGL | L211P | not provided | Uncertain significance (Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16221198
- GRCh38:
- Chr17:16317884
| PIGL | Q202* | not provided | Likely benign (Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16221214
- GRCh38:
- Chr17:16317900
| PIGL | Q218E | CHIME syndrome | Uncertain significance (Feb 8, 2013) | criteria provided, single submitter |