ClinVar Miner

List of variants in gene PCDH15 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 52
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HGVS dbSNP
NM_001142771.2(PCDH15):c.4497+1392dup rs757596933
NM_001142771.2(PCDH15):c.4497+1468A>G
NM_001142771.2(PCDH15):c.4497+1633T>A rs886042518
NM_001142771.2(PCDH15):c.4498-1564T>C rs193186244
NM_001142771.2(PCDH15):c.4498-1638C>T rs775641445
NM_001142771.2(PCDH15):c.4498-4_4498-2dup rs773129893
NM_001142771.2(PCDH15):c.4717C>T (p.Leu1573=) rs200155519
NM_001142771.2(PCDH15):c.4848C>T (p.Ala1616=) rs377244811
NM_033056.4(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164
NM_033056.4(PCDH15):c.1306-4086A>T rs1564635870
NM_033056.4(PCDH15):c.1548G>A (p.Val516=) rs138177808
NM_033056.4(PCDH15):c.189A>G (p.Lys63=) rs1554940478
NM_033056.4(PCDH15):c.1900G>A (p.Val634Ile) rs146199636
NM_033056.4(PCDH15):c.1998C>T (p.Thr666=) rs754253198
NM_033056.4(PCDH15):c.2120T>G (p.Val707Gly) rs942872443
NM_033056.4(PCDH15):c.2138A>G (p.Asn713Ser) rs190878515
NM_033056.4(PCDH15):c.2161C>G (p.Leu721Val) rs794727217
NM_033056.4(PCDH15):c.2277T>C (p.Phe759=) rs1565043296
NM_033056.4(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445
NM_033056.4(PCDH15):c.2619A>G (p.Glu873=) rs150784450
NM_033056.4(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_033056.4(PCDH15):c.2908G>A (p.Val970Ile) rs138338096
NM_033056.4(PCDH15):c.3009+7G>A rs201161336
NM_033056.4(PCDH15):c.3122+3A>G rs373365331
NM_033056.4(PCDH15):c.330C>T (p.Asn110=) rs146796009
NM_033056.4(PCDH15):c.3596C>T (p.Thr1199Ile) rs794727445
NM_033056.4(PCDH15):c.3679G>A (p.Asp1227Asn) rs368127988
NM_033056.4(PCDH15):c.3699C>T (p.Ser1233=) rs774857947
NM_033056.4(PCDH15):c.3717+10T>C rs376158566
NM_033056.4(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363
NM_033056.4(PCDH15):c.3936A>G (p.Ala1312=) rs398124433
NM_033056.4(PCDH15):c.3942C>G (p.Asp1314Glu) rs1356928617
NM_033056.4(PCDH15):c.4049G>A (p.Arg1350His) rs752356781
NM_033056.4(PCDH15):c.4294G>C (p.Val1432Leu) rs886043533
NM_033056.4(PCDH15):c.4308_4310GCC[6] (p.Pro1443dup) rs559130985
NM_033056.4(PCDH15):c.4320G>A (p.Pro1440=) rs12246234
NM_033056.4(PCDH15):c.4320_4328dup (p.Pro1441_Pro1443dup) rs776051221
NM_033056.4(PCDH15):c.4459T>C (p.Ser1487Pro) rs727504071
NM_033056.4(PCDH15):c.4608A>G (p.Val1536=) rs727504070
NM_033056.4(PCDH15):c.4677G>A (p.Lys1559=) rs375077719
NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=) rs529962978
NM_033056.4(PCDH15):c.4810A>C (p.Arg1604=) rs558224212
NM_033056.4(PCDH15):c.5010_5015del (p.1669_1670FS[1]) rs766452153
NM_033056.4(PCDH15):c.521A>G (p.Asn174Ser) rs145037203
NM_033056.4(PCDH15):c.5245_5247CCT[3] (p.Pro1752del) rs397517462
NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup) rs397517466
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu) rs139668636
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445
NM_033056.4(PCDH15):c.5628_5629GA[1] (p.Arg1877fs) rs794727570
NM_033056.4(PCDH15):c.5805G>T (p.Gly1935=) rs727504069
NM_033056.4(PCDH15):c.679C>T (p.Arg227Cys) rs565693539
NM_033056.4(PCDH15):c.949T>A (p.Ser317Thr) rs140736502

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