Related gene-specific medical variations for Gene (Select 56137) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3345550	NM_018903.4(PCDHA12):c.611A>C (p.Gln204Pro)	PCDHA1, PCDHA10 +11 more (Q204P)	Single nucleotide variant (missense variant +1 more)	PCDHA12-related condition	GLikely benign
Select item 3304774	NM_018899.6(PCDHAC2):c.96G>C (p.Leu32Phe)	PCDHA1, PCDHA10 +14 more (L32F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304772	NM_018899.6(PCDHAC2):c.1924A>G (p.Ile642Val)	PCDHA1, PCDHA10 +14 more (I642V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304771	NM_018899.6(PCDHAC2):c.906C>G (p.Asp302Glu)	PCDHA1, PCDHA10 +14 more (D302E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304770	NM_018899.6(PCDHAC2):c.2285A>G (p.Asn762Ser)	PCDHA1, PCDHA10 +14 more (N762S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304769	NM_018899.6(PCDHAC2):c.2452G>A (p.Gly818Arg)	PCDHA1, PCDHA10 +14 more (G818R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304768	NM_018899.6(PCDHAC2):c.2428A>G (p.Asn810Asp)	PCDHA1, PCDHA10 +14 more (N810D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304767	NM_018899.6(PCDHAC2):c.2023G>A (p.Ala675Thr)	PCDHA1, PCDHA10 +14 more (A675T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304766	NM_018898.5(PCDHAC1):c.1028T>C (p.Leu343Pro)	PCDHA1, PCDHA10 +13 more (L343P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304765	NM_018898.5(PCDHAC1):c.767A>C (p.Gln256Pro)	PCDHA12, PCDHA13 +13 more (Q256P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304764	NM_018898.5(PCDHAC1):c.1898G>T (p.Arg633Met)	PCDHA1, PCDHA10 +13 more (R633M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304763	NM_018898.5(PCDHAC1):c.1648G>T (p.Asp550Tyr)	PCDHA1, PCDHA10 +13 more (D550Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304762	NM_018898.5(PCDHAC1):c.1864C>T (p.Arg622Cys)	PCDHA1, PCDHA10 +13 more (R622C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304761	NM_018898.5(PCDHAC1):c.380G>A (p.Gly127Asp)	PCDHA1, PCDHA10 +13 more (G127D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304760	NM_018898.5(PCDHAC1):c.880C>A (p.Gln294Lys)	PCDHA1, PCDHA10 +13 more (Q294K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304759	NM_018898.5(PCDHAC1):c.2054T>C (p.Val685Ala)	PCDHA1, PCDHA10 +13 more (V685A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304758	NM_018898.5(PCDHAC1):c.1026C>A (p.Phe342Leu)	PCDHA2, PCDHA3 +13 more (F342L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3304757	NM_018898.5(PCDHAC1):c.166C>G (p.Arg56Gly)	PCDHA9, PCDHAC1 +13 more (R56G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304682	NM_018904.3(PCDHA13):c.1957G>T (p.Asp653Tyr)	PCDHA1, PCDHA10 +12 more (D653Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304681	NM_018904.3(PCDHA13):c.1181C>G (p.Pro394Arg)	PCDHA1, PCDHA10 +12 more (P394R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304680	NM_018904.3(PCDHA13):c.469G>C (p.Ala157Pro)	PCDHA1, PCDHA10 +12 more (A157P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304679	NM_018904.3(PCDHA13):c.89A>G (p.Gln30Arg)	PCDHA1, PCDHA10 +12 more (Q30R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304678	NM_018904.3(PCDHA13):c.1328T>G (p.Val443Gly)	PCDHA1, PCDHA10 +12 more (V443G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304677	NM_018904.3(PCDHA13):c.52C>T (p.Leu18Phe)	PCDHA1, PCDHA10 +12 more (L18F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304676	NM_018904.3(PCDHA13):c.1073C>A (p.Pro358His)	PCDHA1, PCDHA10 +12 more (P358H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304675	NM_018904.3(PCDHA13):c.1273G>T (p.Val425Leu)	PCDHA1, PCDHA10 +12 more (V425L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304674	NM_018903.4(PCDHA12):c.812A>C (p.Glu271Ala)	PCDHA1, PCDHA10 +11 more (E271A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304673	NM_018903.4(PCDHA12):c.1763G>A (p.Gly588Asp)	PCDHA1, PCDHA10 +11 more (G588D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304672	NM_018903.4(PCDHA12):c.535G>A (p.Glu179Lys)	PCDHA1, PCDHA10 +11 more (E179K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304671	NM_018903.4(PCDHA12):c.968T>C (p.Ile323Thr)	PCDHA1, PCDHA10 +11 more (I323T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304670	NM_018903.4(PCDHA12):c.569T>A (p.Ile190Lys)	PCDHA1, PCDHA10 +11 more (I190K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304668	NM_018903.4(PCDHA12):c.567T>A (p.Ser189Arg)	PCDHA1, PCDHA10 +11 more (S189R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304667	NM_018903.4(PCDHA12):c.565A>G (p.Ser189Gly)	PCDHA1, PCDHA10 +11 more (S189G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304666	NM_018903.4(PCDHA12):c.37C>A (p.Arg13Ser)	LOC112267934, PCDHA1 +12 more (R13S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3304665	NM_018903.4(PCDHA12):c.1396G>C (p.Glu466Gln)	PCDHA1, PCDHA10 +11 more (E466Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209536	NM_018899.6(PCDHAC2):c.710G>T (p.Arg237Leu)	PCDHA1, PCDHA10 +14 more (R237L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209535	NM_018899.6(PCDHAC2):c.314T>C (p.Ile105Thr)	PCDHA1, PCDHA10 +14 more (I105T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209534	NM_018899.6(PCDHAC2):c.2206G>A (p.Ala736Thr)	PCDHA1, PCDHA10 +14 more (A736T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209533	NM_018899.6(PCDHAC2):c.2096G>A (p.Arg699Gln)	PCDHA1, PCDHA10 +14 more (R699Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209532	NM_018899.6(PCDHAC2):c.196G>C (p.Gly66Arg)	PCDHA1, PCDHA10 +14 more (G66R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209531	NM_018899.6(PCDHAC2):c.1514C>T (p.Thr505Ile)	PCDHA1, PCDHA10 +14 more (T505I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209530	NM_018899.6(PCDHAC2):c.129G>C (p.Gln43His)	PCDHA1, PCDHA10 +14 more (Q43H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209529	NM_018898.5(PCDHAC1):c.839T>G (p.Leu280Arg)	PCDHA1, PCDHA10 +13 more (L280R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209528	NM_018898.5(PCDHAC1):c.806A>C (p.Gln269Pro)	PCDHA1, PCDHA10 +13 more (Q269P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209527	NM_018898.5(PCDHAC1):c.686A>G (p.Asn229Ser)	PCDHA1, PCDHA10 +13 more (N229S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209525	NM_018898.5(PCDHAC1):c.577C>G (p.Arg193Gly)	PCDHA1, PCDHA10 +13 more (R193G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209524	NM_018898.5(PCDHAC1):c.442G>A (p.Ala148Thr)	PCDHA1, PCDHA10 +13 more (A148T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209523	NM_018898.5(PCDHAC1):c.311C>T (p.Pro104Leu)	PCDHA1, PCDHA10 +13 more (P104L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209522	NM_018898.5(PCDHAC1):c.285G>T (p.Leu95Phe)	PCDHA1, PCDHA10 +13 more (L95F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209521	NM_018898.5(PCDHAC1):c.2291C>T (p.Ser764Phe)	PCDHA1, PCDHA10 +13 more (S764F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209519	NM_018898.5(PCDHAC1):c.1661T>A (p.Val554Asp)	PCDHA1, PCDHA10 +13 more (V554D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209518	NM_018898.5(PCDHAC1):c.1423G>A (p.Gly475Arg)	PCDHA1, PCDHA10 +13 more (G475R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209517	NM_018898.5(PCDHAC1):c.1189C>G (p.Leu397Val)	PCDHA1, PCDHA10 +13 more (L397V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209516	NM_018898.5(PCDHAC1):c.1181A>G (p.Tyr394Cys)	PCDHA1, PCDHA10 +13 more (Y394C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209368	NM_018904.3(PCDHA13):c.923T>A (p.Leu308Gln)	PCDHA1, PCDHA10 +12 more (L308Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209367	NM_018904.3(PCDHA13):c.848G>A (p.Arg283Lys)	PCDHA1, PCDHA10 +12 more (R283K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209366	NM_018904.3(PCDHA13):c.742A>G (p.Lys248Glu)	PCDHA1, PCDHA10 +12 more (K248E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209365	NM_018904.3(PCDHA13):c.626G>A (p.Ser209Asn)	PCDHA1, PCDHA10 +12 more (S209N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209364	NM_018904.3(PCDHA13):c.623A>T (p.His208Leu)	PCDHA1, PCDHA10 +12 more (H208L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209363	NM_018904.3(PCDHA13):c.545C>A (p.Ala182Glu)	PCDHA1, PCDHA10 +12 more (A182E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209361	NM_018904.3(PCDHA13):c.512G>A (p.Arg171Gln)	PCDHA1, PCDHA10 +12 more (R171Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209360	NM_018904.3(PCDHA13):c.484A>G (p.Ile162Val)	PCDHA1, PCDHA10 +12 more (I162V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209359	NM_018904.3(PCDHA13):c.439C>A (p.Pro147Thr)	PCDHA1, PCDHA10 +12 more (P147T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209358	NM_018904.3(PCDHA13):c.280G>A (p.Glu94Lys)	PCDHA1, PCDHA10 +12 more (E94K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209357	NM_018904.3(PCDHA13):c.2351A>C (p.Glu784Ala)	PCDHA1, PCDHA10 +12 more (E784A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209355	NM_018904.3(PCDHA13):c.2051C>T (p.Ala684Val)	PCDHA1, PCDHA10 +12 more (A684V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209354	NM_018904.3(PCDHA13):c.2048C>T (p.Ser683Leu)	PCDHA1, PCDHA10 +12 more (S683L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3209353	NM_018904.3(PCDHA13):c.1849G>A (p.Gly617Ser)	PCDHA1, PCDHA10 +12 more (G617S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209351	NM_018904.3(PCDHA13):c.1804G>T (p.Gly602Cys)	PCDHA1, PCDHA10 +12 more (G602C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209350	NM_018904.3(PCDHA13):c.1644C>G (p.Asn548Lys)	PCDHA1, PCDHA10 +12 more (N548K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209349	NM_018904.3(PCDHA13):c.1612C>T (p.Arg538Cys)	PCDHA10, PCDHA11 +12 more (R538C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209348	NM_018904.3(PCDHA13):c.1535C>T (p.Ala512Val)	PCDHA1, PCDHA10 +12 more (A512V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209347	NM_018904.3(PCDHA13):c.1522G>T (p.Val508Leu)	PCDHA1, PCDHA10 +12 more (V508L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209346	NM_018904.3(PCDHA13):c.1474T>C (p.Tyr492His)	PCDHA1, PCDHA10 +12 more (Y492H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209345	NM_018904.3(PCDHA13):c.1233C>A (p.Ser411Arg)	PCDHA1, PCDHA10 +12 more (S411R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209344	NM_018904.3(PCDHA13):c.1109C>T (p.Ala370Val)	PCDHA1, PCDHA10 +12 more (A370V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209343	NM_018904.3(PCDHA13):c.1108G>T (p.Ala370Ser)	PCDHA1, PCDHA10 +12 more (A370S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209342	NM_018904.3(PCDHA13):c.1054A>C (p.Ile352Leu)	PCDHA1, PCDHA10 +12 more (I352L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209340	NM_018903.4(PCDHA12):c.860T>C (p.Val287Ala)	PCDHA1, PCDHA10 +11 more (V287A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209339	NM_018903.4(PCDHA12):c.824G>C (p.Gly275Ala)	PCDHA1, PCDHA10 +11 more (G275A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209338	NM_018903.4(PCDHA12):c.746T>C (p.Val249Ala)	PCDHA1, PCDHA10 +11 more (V249A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209337	NM_018903.4(PCDHA12):c.673T>C (p.Ser225Pro)	PCDHA1, PCDHA10 +11 more (S225P)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3209336	NM_018903.4(PCDHA12):c.577G>A (p.Glu193Lys)	PCDHA1, PCDHA10 +11 more (E193K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209335	NM_018903.4(PCDHA12):c.418G>T (p.Val140Leu)	LOC112267934, PCDHA1 +12 more (V140L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3209334	NM_018903.4(PCDHA12):c.417G>T (p.Lys139Asn)	LOC112267934, PCDHA1 +12 more (K139N)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3209333	NM_018903.4(PCDHA12):c.371A>G (p.Lys124Arg)	LOC112267934, PCDHA1 +12 more (K124R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3209332	NM_018903.4(PCDHA12):c.292C>T (p.Arg98Trp)	LOC112267934, PCDHA1 +12 more (R98W)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3209331	NM_018903.4(PCDHA12):c.274C>T (p.Arg92Cys)	LOC112267934, PCDHA1 +12 more (R92C)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3209330	NM_018903.4(PCDHA12):c.2270G>T (p.Arg757Met)	PCDHA1, PCDHA10 +11 more (R757M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209328	NM_018903.4(PCDHA12):c.2213C>T (p.Thr738Met)	PCDHA1, PCDHA10 +11 more (T738M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209327	NM_018903.4(PCDHA12):c.2200C>T (p.Pro734Ser)	PCDHA1, PCDHA10 +11 more (P734S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209326	NM_018903.4(PCDHA12):c.2075C>T (p.Ala692Val)	PCDHA1, PCDHA10 +11 more (A692V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209324	NM_018903.4(PCDHA12):c.1935C>G (p.His645Gln)	PCDHA1, PCDHA10 +11 more (H645Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3209323	NM_018903.4(PCDHA12):c.1678G>T (p.Asp560Tyr)	PCDHA1, PCDHA10 +11 more (D560Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209322	NM_018903.4(PCDHA12):c.1678G>C (p.Asp560His)	PCDHA1, PCDHA10 +11 more (D560H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209321	NM_018903.4(PCDHA12):c.1586A>G (p.Glu529Gly)	PCDHA1, PCDHA10 +11 more (E529G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209319	NM_018903.4(PCDHA12):c.1456A>G (p.Lys486Glu)	PCDHA1, PCDHA10 +11 more (K486E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3209317	NM_018903.4(PCDHA12):c.1093G>C (p.Val365Leu)	PCDHA1, PCDHA10 +11 more (V365L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3044886	NM_018904.3(PCDHA13):c.2802C>T (p.Thr934=)	PCDHA1, PCDHA10 +15 more	Single nucleotide variant (synonymous variant)	PCDHA13-related disorder	GBenign
Select item 3044804	NM_018904.3(PCDHA13):c.2543-9_2543-8del	PCDHA1, PCDHA10 +15 more	Deletion (intron variant)	PCDHA13-related disorder	GLikely benign

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