PCDHA@[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1023

<< First< Prev

Page of 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 2483897	NM_018900.4(PCDHA1):c.5T>A (p.Val2Glu)	PCDHA1, PCDHA@ (V2E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244984	NM_018900.4(PCDHA1):c.8T>G (p.Phe3Cys)	PCDHA1, PCDHA@ (F3C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614157	NM_018900.4(PCDHA1):c.23G>A (p.Gly8Asp)	PCDHA1, PCDHA@ (G8D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246303	NM_018900.4(PCDHA1):c.35G>T (p.Arg12Leu)	PCDHA1, PCDHA@ (R12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513822	NM_018900.4(PCDHA1):c.51G>T (p.Trp17Cys)	PCDHA1, PCDHA@ (W17C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381164	NM_018900.4(PCDHA1):c.109G>C (p.Glu37Gln)	PCDHA1, PCDHA@ (E37Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480921	NM_018900.4(PCDHA1):c.134T>C (p.Val45Ala)	PCDHA1, PCDHA@ (V45A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481211	NM_018900.4(PCDHA1):c.291G>C (p.Gln97His)	PCDHA1, PCDHA@ (Q97H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520054	NM_018900.4(PCDHA1):c.296G>C (p.Ser99Thr)	PCDHA1, PCDHA@ (S99T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478696	NM_018900.4(PCDHA1):c.319G>A (p.Glu107Lys)	PCDHA1, PCDHA@ (E107K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211397	NM_018900.4(PCDHA1):c.322T>G (p.Leu108Val)	PCDHA1, PCDHA@ (L108V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2211398	NM_018900.4(PCDHA1):c.329C>T (p.Ala110Val)	PCDHA1, PCDHA@ (A110V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209277	NM_018900.4(PCDHA1):c.347T>C (p.Val116Ala)	PCDHA1, PCDHA@ (V116A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620165	NM_018900.4(PCDHA1):c.353A>T (p.His118Leu)	PCDHA1, PCDHA@ (H118L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730554	NM_018900.4(PCDHA1):c.357G>A (p.Val119=)	PCDHA1, PCDHA@	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3209278	NM_018900.4(PCDHA1):c.401G>C (p.Arg134Thr)	PCDHA1, PCDHA@ (R134T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364968	NM_018900.4(PCDHA1):c.457C>T (p.Pro153Ser)	PCDHA1, PCDHA@ (P153S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615896	NM_018900.4(PCDHA1):c.484A>C (p.Ile162Leu)	PCDHA1, PCDHA@ (I162L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318816	NM_018900.4(PCDHA1):c.497C>A (p.Ala166Asp)	PCDHA1, PCDHA@ (A166D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459117	NM_018900.4(PCDHA1):c.521C>T (p.Pro174Leu)	PCDHA1, PCDHA@ (P174L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252951	NM_018900.4(PCDHA1):c.568A>C (p.Lys190Gln)	PCDHA1, PCDHA@ (K190Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209279	NM_018900.4(PCDHA1):c.614C>T (p.Thr205Ile)	PCDHA1, PCDHA@ (T205I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209280	NM_018900.4(PCDHA1):c.832G>A (p.Val278Ile)	PCDHA1, PCDHA@ (V278I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254445	NM_018900.4(PCDHA1):c.860G>A (p.Arg287His)	PCDHA1, PCDHA@ (R287H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2482959	NM_018900.4(PCDHA1):c.914T>C (p.Ile305Thr)	PCDHA1, PCDHA@ (I305T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341400	NM_018900.4(PCDHA1):c.925G>C (p.Asp309His)	PCDHA1, PCDHA@ (D309H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209268	NM_018900.4(PCDHA1):c.1001G>A (p.Cys334Tyr)	PCDHA1, PCDHA@ (C334Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543113	NM_018900.4(PCDHA1):c.1006G>T (p.Val336Phe)	PCDHA1, PCDHA@ (V336F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392112	NM_018900.4(PCDHA1):c.1019T>A (p.Val340Glu)	PCDHA1, PCDHA@ (V340E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532941	NM_018900.4(PCDHA1):c.1073C>T (p.Pro358Leu)	PCDHA1, PCDHA@ (P358L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209269	NM_018900.4(PCDHA1):c.1086C>G (p.Asp362Glu)	PCDHA1, PCDHA@ (D362E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341637	NM_018900.4(PCDHA1):c.1087G>T (p.Ala363Ser)	PCDHA1, PCDHA@ (A363S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462153	NM_018900.4(PCDHA1):c.1139G>C (p.Gly380Ala)	PCDHA1, PCDHA@ (G380A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291802	NM_018900.4(PCDHA1):c.1249A>G (p.Ser417Gly)	PCDHA1, PCDHA@ (S417G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210090	NM_018900.4(PCDHA1):c.1341C>A (p.Asp447Glu)	PCDHA1, PCDHA@ (D447E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655745	NM_018900.4(PCDHA1):c.1345A>C (p.Asn449His)	PCDHA1, PCDHA@ (N449H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2570375	NM_018900.4(PCDHA1):c.1408C>T (p.Pro470Ser)	PCDHA1, PCDHA@ (P470S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313913	NM_018900.4(PCDHA1):c.1514C>T (p.Ser505Leu)	PCDHA1, PCDHA@ (S505L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227505	NM_018900.4(PCDHA1):c.1523T>C (p.Val508Ala)	PCDHA1, PCDHA@ (V508A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594467	NM_018900.4(PCDHA1):c.1525T>C (p.Ser509Pro)	PCDHA1, PCDHA@ (S509P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459627	NM_018900.4(PCDHA1):c.1529T>C (p.Val510Ala)	PCDHA1, PCDHA@ (V510A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301697	NM_018900.4(PCDHA1):c.1575C>G (p.His525Gln)	PCDHA1, PCDHA@ (H525Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468105	NM_018900.4(PCDHA1):c.1578G>C (p.Glu526Asp)	PCDHA1, PCDHA@ (E526D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341565	NM_018900.4(PCDHA1):c.1706G>T (p.Arg569Leu)	PCDHA1, PCDHA@ (R569L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527116	NM_018900.4(PCDHA1):c.1709T>C (p.Val570Ala)	PCDHA1, PCDHA@ (V570A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2655746	NM_018900.4(PCDHA1):c.1761G>C (p.Ala587=)	PCDHA1, PCDHA@	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2256079	NM_018900.4(PCDHA1):c.1789G>T (p.Val597Leu)	PCDHA1, PCDHA@ (V597L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286958	NM_018900.4(PCDHA1):c.1802C>T (p.Ser601Leu)	PCDHA1, PCDHA@ (S601L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209271	NM_018900.4(PCDHA1):c.1811A>G (p.Asn604Ser)	PCDHA1, PCDHA@ (N604S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473017	NM_018900.4(PCDHA1):c.1828G>A (p.Glu610Lys)	PCDHA1, PCDHA@ (E610K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209272	NM_018900.4(PCDHA1):c.1855C>T (p.Arg619Cys)	PCDHA1, PCDHA@ (R619C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209273	NM_018900.4(PCDHA1):c.1895G>A (p.Ser632Asn)	PCDHA1, PCDHA@ (S632N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242767	NM_018900.4(PCDHA1):c.1926G>T (p.Leu642Phe)	PCDHA1, PCDHA@ (L642F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469412	NM_018900.4(PCDHA1):c.1933T>C (p.Tyr645His)	PCDHA1, PCDHA@ (Y645H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210346	NM_018900.4(PCDHA1):c.1996C>T (p.Leu666Phe)	PCDHA1, PCDHA@ (L666F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464715	NM_018900.4(PCDHA1):c.2054G>A (p.Gly685Asp)	PCDHA1, PCDHA@ (G685D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209274	NM_018900.4(PCDHA1):c.2168G>A (p.Cys723Tyr)	PCDHA1, PCDHA@ (C723Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600789	NM_018900.4(PCDHA1):c.2218G>A (p.Val740Met)	PCDHA1, PCDHA@ (V740M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381986	NM_018900.4(PCDHA1):c.2231C>A (p.Ala744Glu)	PCDHA1, PCDHA@ (A744E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209275	NM_018900.4(PCDHA1):c.2338C>G (p.Leu780Val)	PCDHA1, PCDHA@ (L780V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209276	NM_018900.4(PCDHA1):c.2380G>C (p.Asp794His)	PCDHA1, PCDHA@ (D794H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340818	NM_018905.3(PCDHA2):c.70T>C (p.Trp24Arg)	PCDHA1, PCDHA2 +1 more (W24R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463285	NM_018905.3(PCDHA2):c.95G>C (p.Arg32Pro)	PCDHA1, PCDHA2 +1 more (R32P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367002	NM_018905.3(PCDHA2):c.124G>T (p.Gly42Cys)	PCDHA1, PCDHA2 +1 more (G42C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468332	NM_018905.3(PCDHA2):c.166C>A (p.Leu56Met)	PCDHA1, PCDHA2 +1 more (L56M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249628	NM_018905.3(PCDHA2):c.214G>A (p.Gly72Arg)	PCDHA1, PCDHA2 +1 more (G72R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209384	NM_018905.3(PCDHA2):c.313C>T (p.His105Tyr)	PCDHA1, PCDHA2 +1 more (H105Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209385	NM_018905.3(PCDHA2):c.368T>C (p.Val123Ala)	PCDHA1, PCDHA2 +1 more (V123A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320842	NM_018905.3(PCDHA2):c.374A>T (p.Asp125Val)	PCDHA1, PCDHA2 +1 more (D125V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209386	NM_018905.3(PCDHA2):c.381C>A (p.Asn127Lys)	PCDHA1, PCDHA2 +1 more (N127K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549872	NM_018905.3(PCDHA2):c.403A>G (p.Met135Val)	PCDHA1, PCDHA2 +1 more (M135V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355337	NM_018905.3(PCDHA2):c.413A>G (p.Lys138Arg)	PCDHA1, PCDHA2 +1 more (K138R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209387	NM_018905.3(PCDHA2):c.418A>C (p.Ile140Leu)	PCDHA1, PCDHA2 +1 more (I140L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655747	NM_018905.3(PCDHA2):c.420C>G (p.Ile140Met)	PCDHA1, PCDHA2 +1 more (I140M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2405078	NM_018905.3(PCDHA2):c.421C>T (p.Arg141Trp)	PCDHA1, PCDHA2 +1 more (R141W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335563	NM_018905.3(PCDHA2):c.421C>G (p.Arg141Gly)	PCDHA1, PCDHA2 +1 more (R141G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209388	NM_018905.3(PCDHA2):c.530T>A (p.Phe177Tyr)	PCDHA1, PCDHA2 +1 more (F177Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209389	NM_018905.3(PCDHA2):c.542A>T (p.Asp181Val)	PCDHA1, PCDHA2 +1 more (D181V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610098	NM_018905.3(PCDHA2):c.627T>A (p.Asn209Lys)	PCDHA1, PCDHA2 +1 more (N209K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486100	NM_018905.3(PCDHA2):c.647A>T (p.Asp216Val)	PCDHA1, PCDHA2 +1 more (D216V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390258	NM_018905.3(PCDHA2):c.686T>G (p.Leu229Arg)	PCDHA1, PCDHA2 +1 more (L229R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522714	NM_018905.3(PCDHA2):c.727G>A (p.Ala243Thr)	PCDHA1, PCDHA2 +1 more (A243T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595794	NM_018905.3(PCDHA2):c.830T>C (p.Ile277Thr)	PCDHA1, PCDHA2 +1 more (I277T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321235	NM_018905.3(PCDHA2):c.917G>A (p.Gly306Glu)	PCDHA1, PCDHA2 +1 more (G306E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264732	NM_018905.3(PCDHA2):c.934G>A (p.Glu312Lys)	PCDHA1, PCDHA2 +1 more (E312K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 92002	NM_018905.3(PCDHA2):c.1010C>A (p.Ser337Ter)	PCDHA1, PCDHA2 +1 more (S337*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2409799	NM_018905.3(PCDHA2):c.1022T>G (p.Val341Gly)	PCDHA1, PCDHA2 +1 more (V341G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309487	NM_018905.3(PCDHA2):c.1025A>T (p.Asp342Val)	PCDHA@, PCDHA1 +1 more (D342V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209369	NM_018905.3(PCDHA2):c.1109C>T (p.Ala370Val)	PCDHA1, PCDHA2 +1 more (A370V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214939	NM_018905.3(PCDHA2):c.1117A>T (p.Thr373Ser)	PCDHA1, PCDHA2 +1 more (T373S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3209370	NM_018905.3(PCDHA2):c.1142C>A (p.Thr381Lys)	PCDHA1, PCDHA2 +1 more (T381K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209371	NM_018905.3(PCDHA2):c.1177G>A (p.Val393Ile)	PCDHA1, PCDHA2 +1 more (V393I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548714	NM_018905.3(PCDHA2):c.1330G>C (p.Glu444Gln)	PCDHA1, PCDHA2 +1 more (E444Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3209373	NM_018905.3(PCDHA2):c.1350C>A (p.Asp450Glu)	PCDHA1, PCDHA2 +1 more (D450E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209374	NM_018905.3(PCDHA2):c.1430T>A (p.Val477Glu)	PCDHA1, PCDHA2 +1 more (V477E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209375	NM_018905.3(PCDHA2):c.1483G>A (p.Val495Met)	PCDHA1, PCDHA2 +1 more (V495M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

<< First< Prev

Page of 11