ClinVar Miner

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

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Total variants: 89
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HGVS dbSNP
NM_001142763.1(PCDH15):c.1153G>A (p.Gly385Ser) rs10825269
NM_001142763.1(PCDH15):c.4871A>G (p.Asn1624Ser) rs111033362
NM_001142769.2(PCDH15):c.4501_4503delGAA (p.Glu1501del) rs561144747
NM_001142769.2(PCDH15):c.4596C>T (p.Ile1532=) rs12359240
NM_001142769.2(PCDH15):c.4853A>C (p.Glu1618Ala) rs11003863
NM_001142769.2(PCDH15):c.4901dup (p.Thr1635Aspfs) rs757596933
NM_001142769.2(PCDH15):c.4977A>G (p.Lys1659=)
NM_001142769.2(PCDH15):c.5142T>A (p.Ser1714Arg) rs886042518
NM_001142769.2(PCDH15):c.5295A>G (p.Pro1765=) rs145178582
NM_001142769.2(PCDH15):c.5297C>T (p.Ala1766Val) rs775641445
NM_001142769.2(PCDH15):c.5298G>A (p.Ala1766=) rs139441645
NM_001142769.2(PCDH15):c.5371T>C (p.Ter1791Arg) rs193186244
NM_001142771.1(PCDH15):c.4498-4_4498-2dup rs773129893
NM_001142771.1(PCDH15):c.4627G>A (p.Gly1543Ser) rs181306086
NM_001142771.1(PCDH15):c.4686G>A (p.Thr1562=) rs148772706
NM_001142771.1(PCDH15):c.4717C>T (p.Leu1573=) rs200155519
NM_001142771.1(PCDH15):c.4848C>T (p.Ala1616=) rs377244811
NM_033056.3(PCDH15):c.*12411C>T rs145418788
NM_033056.3(PCDH15):c.1039C>T (p.Leu347Phe) rs111033436
NM_033056.3(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164
NM_033056.3(PCDH15):c.1304A>C (p.Asp435Ala) rs4935502
NM_033056.3(PCDH15):c.1306-4086A>T
NM_033056.3(PCDH15):c.1360G>A (p.Val454Ile) rs61735473
NM_033056.3(PCDH15):c.1362C>T (p.Val454=) rs61735479
NM_033056.3(PCDH15):c.1548G>A (p.Val516=) rs138177808
NM_033056.3(PCDH15):c.189A>G (p.Lys63=) rs1554940478
NM_033056.3(PCDH15):c.1900G>A (p.Val634Ile) rs146199636
NM_033056.3(PCDH15):c.1998C>T (p.Thr666=) rs754253198
NM_033056.3(PCDH15):c.2120T>G (p.Val707Gly) rs942872443
NM_033056.3(PCDH15):c.2138A>G (p.Asn713Ser) rs190878515
NM_033056.3(PCDH15):c.2161C>G (p.Leu721Val) rs794727217
NM_033056.3(PCDH15):c.2277T>C (p.Phe759=)
NM_033056.3(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445
NM_033056.3(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363
NM_033056.3(PCDH15):c.2619A>G (p.Glu873=) rs150784450
NM_033056.3(PCDH15):c.2625G>A (p.Ser875=) rs111033516
NM_033056.3(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_033056.3(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_033056.3(PCDH15):c.2908G>A (p.Val970Ile) rs138338096
NM_033056.3(PCDH15):c.2990A>G (p.Glu997Gly) rs139087859
NM_033056.3(PCDH15):c.3009+7G>A rs201161336
NM_033056.3(PCDH15):c.3018G>T (p.Val1006=) rs41307518
NM_033056.3(PCDH15):c.3040_3047dup (p.Met1016Ilefs) rs1554882652
NM_033056.3(PCDH15):c.3122+3A>G rs373365331
NM_033056.3(PCDH15):c.330C>T (p.Asn110=) rs146796009
NM_033056.3(PCDH15):c.343G>A (p.Val115Met) rs143570915
NM_033056.3(PCDH15):c.3502-8C>T rs184144118
NM_033056.3(PCDH15):c.3596C>T (p.Thr1199Ile) rs794727445
NM_033056.3(PCDH15):c.3679G>A (p.Asp1227Asn) rs368127988
NM_033056.3(PCDH15):c.3699C>T (p.Ser1233=) rs774857947
NM_033056.3(PCDH15):c.3717+10T>C rs376158566
NM_033056.3(PCDH15):c.3717+8G>C rs200556301
NM_033056.3(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363
NM_033056.3(PCDH15):c.3936A>G (p.Ala1312=) rs398124433
NM_033056.3(PCDH15):c.3942C>G (p.Asp1314Glu)
NM_033056.3(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387
NM_033056.3(PCDH15):c.4049G>A (p.Arg1350His) rs752356781
NM_033056.3(PCDH15):c.4294G>C (p.Val1432Leu) rs886043533
NM_033056.3(PCDH15):c.4320G>A (p.Pro1440=) rs12246234
NM_033056.3(PCDH15):c.4320_4322dup (p.Pro1443_Gly1444insPro) rs559130985
NM_033056.3(PCDH15):c.4328_4329insGCCTCCGCC (p.Pro1443_Gly1444insProProPro) rs776051221
NM_033056.3(PCDH15):c.4368-13_4368-10dupCTTT rs530804327
NM_033056.3(PCDH15):c.4459T>C (p.Ser1487Pro) rs727504071
NM_033056.3(PCDH15):c.4581C>A (p.Pro1527=) rs10825114
NM_033056.3(PCDH15):c.4608A>G (p.Val1536=) rs727504070
NM_033056.3(PCDH15):c.4677G>A (p.Lys1559=) rs375077719
NM_033056.3(PCDH15):c.4719G>A (p.Leu1573=) rs529962978
NM_033056.3(PCDH15):c.4810A>C (p.Arg1604=) rs558224212
NM_033056.3(PCDH15):c.4831_4834dupAACA (p.Thr1612Lysfs) rs545191822
NM_033056.3(PCDH15):c.5010_5015delATTCTC (p.Phe1671_Ser1672del) rs766452153
NM_033056.3(PCDH15):c.521A>G (p.Asn174Ser) rs145037203
NM_033056.3(PCDH15):c.5254_5256delCCT (p.Pro1752del) rs397517462
NM_033056.3(PCDH15):c.5278_5286delCCTGCTCCT (p.Pro1760_Pro1762del) rs373916538
NM_033056.3(PCDH15):c.5286T>A (p.Pro1762=) rs58461416
NM_033056.3(PCDH15):c.5294_5302delTTGCTCCTC (p.Leu1765_Pro1767del) rs557936064
NM_033056.3(PCDH15):c.5296_5304dupGCTCCTCCT (p.Pro1768_Pro1769insAlaProPro) rs397517466
NM_033056.3(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390
NM_033056.3(PCDH15):c.5414C>T (p.Pro1805Leu) rs114137983
NM_033056.3(PCDH15):c.5435C>T (p.Pro1812Leu) rs139668636
NM_033056.3(PCDH15):c.5565C>T (p.Ala1855=) rs111033445
NM_033056.3(PCDH15):c.5601_5603delAAC (p.Thr1869del) rs113363047
NM_033056.3(PCDH15):c.5603C>T (p.Thr1868Met) rs191736346
NM_033056.3(PCDH15):c.5630_5633delGAGA (p.Arg1877Asnfs) rs794727570
NM_033056.3(PCDH15):c.5707A>G (p.Ile1903Val) rs79854148
NM_033056.3(PCDH15):c.5805G>T (p.Gly1935=) rs727504069
NM_033056.3(PCDH15):c.679C>T (p.Arg227Cys) rs565693539
NM_033056.3(PCDH15):c.706-3_717delCAGGACCGTGCCCAA rs769348776
NM_033056.3(PCDH15):c.706-8C>T rs10740579
NM_033056.3(PCDH15):c.949T>A (p.Ser317Thr) rs140736502

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