ClinVar Miner

List of variants in gene PCDH15 reported as likely benign by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 68
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HGVS dbSNP
NC_000010.11:g.53840352G>A
NC_000010.11:g.54369132G>A
NM_001142771.2(PCDH15):c.4497+1066_4497+1068del rs1554815871
NM_001142771.2(PCDH15):c.4497+1642T>C rs182175548
NM_001142771.2(PCDH15):c.4498-1586T>C rs572152722
NM_001142771.2(PCDH15):c.4584G>A (p.Gln1528=) rs368096085
NM_001142771.2(PCDH15):c.4627G>A (p.Gly1543Ser) rs181306086
NM_033056.4(PCDH15):c.1028G>A (p.Arg343Lys) rs141169746
NM_033056.4(PCDH15):c.1256A>G (p.Asn419Ser) rs143827620
NM_033056.4(PCDH15):c.1653G>A (p.Gly551=) rs141281651
NM_033056.4(PCDH15):c.1784+11T>G rs769008985
NM_033056.4(PCDH15):c.1998-13G>A rs727504616
NM_033056.4(PCDH15):c.2092-6T>C rs780684363
NM_033056.4(PCDH15):c.2379T>C (p.Asp793=) rs148920891
NM_033056.4(PCDH15):c.2385A>G (p.Ala795=) rs61731362
NM_033056.4(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363
NM_033056.4(PCDH15):c.243G>A (p.Val81=) rs151119732
NM_033056.4(PCDH15):c.2538C>T (p.Val846=) rs727504573
NM_033056.4(PCDH15):c.2563C>T (p.Arg855Trp) rs138010738
NM_033056.4(PCDH15):c.2721T>G (p.Pro907=) rs727504835
NM_033056.4(PCDH15):c.2769T>C (p.Pro923=) rs727503366
NM_033056.4(PCDH15):c.2811G>A (p.Pro937=) rs1449039709
NM_033056.4(PCDH15):c.2859A>C (p.Ala953=) rs375965861
NM_033056.4(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_033056.4(PCDH15):c.2990A>G (p.Glu997Gly) rs139087859
NM_033056.4(PCDH15):c.3195A>G (p.Gln1065=) rs776720353
NM_033056.4(PCDH15):c.3276T>C (p.Asn1092=) rs772160626
NM_033056.4(PCDH15):c.330C>T (p.Asn110=) rs146796009
NM_033056.4(PCDH15):c.3327T>C (p.Ala1109=) rs1554871942
NM_033056.4(PCDH15):c.3444C>T (p.Phe1148=) rs876657562
NM_033056.4(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475
NM_033056.4(PCDH15):c.3498G>A (p.Val1166=) rs1554852336
NM_033056.4(PCDH15):c.3501+13A>G rs727503365
NM_033056.4(PCDH15):c.3585T>C (p.Phe1195=) rs397517457
NM_033056.4(PCDH15):c.369A>G (p.Lys123=) rs1317246200
NM_033056.4(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363
NM_033056.4(PCDH15):c.4080G>A (p.Val1360=) rs111033499
NM_033056.4(PCDH15):c.4103A>G (p.Glu1368Gly) rs111033449
NM_033056.4(PCDH15):c.4367+8G>A rs727504745
NM_033056.4(PCDH15):c.4463A>G (p.Asn1488Ser) rs201534861
NM_033056.4(PCDH15):c.4568G>A (p.Ser1523Asn) rs1377421029
NM_033056.4(PCDH15):c.4677G>A (p.Lys1559=) rs375077719
NM_033056.4(PCDH15):c.4733T>C (p.Val1578Ala) rs139915181
NM_033056.4(PCDH15):c.4749G>A (p.Arg1583=) rs767811568
NM_033056.4(PCDH15):c.4783A>C (p.Ile1595Leu) rs397517461
NM_033056.4(PCDH15):c.4788T>G (p.Asp1596Glu) rs200659780
NM_033056.4(PCDH15):c.4837G>A (p.Gly1613Arg) rs876657563
NM_033056.4(PCDH15):c.4974A>C (p.Ser1658=) rs147993163
NM_033056.4(PCDH15):c.5189T>A (p.Ile1730Asn) rs727503364
NM_033056.4(PCDH15):c.5245_5247CCT[3] (p.Pro1752del) rs397517462
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del) rs373916538
NM_033056.4(PCDH15):c.5280_5342del (p.Ala1761_Pro1781del) rs1554820012
NM_033056.4(PCDH15):c.5281_5286GCTCCT[1] (p.1761_1762AP[1]) rs397517465
NM_033056.4(PCDH15):c.5283T>A (p.Ala1761=) rs375134176
NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup) rs397517466
NM_033056.4(PCDH15):c.5327_5335del (p.Leu1776_Cys1778del) rs397517467
NM_033056.4(PCDH15):c.5334T>C (p.Cys1778=) rs727503362
NM_033056.4(PCDH15):c.5346T>A (p.Ser1782=) rs397517468
NM_033056.4(PCDH15):c.5349T>G (p.Pro1783=) rs727505113
NM_033056.4(PCDH15):c.5352T>A (p.Pro1784=) rs727505100
NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro) rs144261647
NM_033056.4(PCDH15):c.5397C>T (p.Ser1799=) rs367881384
NM_033056.4(PCDH15):c.5424A>C (p.Pro1808=) rs753289924
NM_033056.4(PCDH15):c.5439A>C (p.Pro1813=) rs150303579
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu) rs145903555
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445
NM_033056.4(PCDH15):c.913C>G (p.Gln305Glu) rs143058902
NM_033056.4(PCDH15):c.942A>G (p.Gln314=) rs149481989

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