Related gene-specific medical variations for Gene (Select 56140) - 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 3304756	NM_031857.2(PCDHA9):c.1550T>A (p.Val517Glu)	PCDHA1, PCDHA2 +8 more (V517E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304755	NM_031857.2(PCDHA9):c.233A>G (p.Asn78Ser)	PCDHA1, PCDHA2 +8 more (N78S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304754	NM_031857.2(PCDHA9):c.1427C>T (p.Thr476Met)	PCDHA1, PCDHA2 +8 more (T476M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304753	NM_031857.2(PCDHA9):c.2344T>C (p.Ser782Pro)	PCDHA1, PCDHA2 +8 more (S782P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304751	NM_031857.2(PCDHA9):c.2229C>A (p.Ser743Arg)	PCDHA1, PCDHA2 +8 more (S743R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304750	NM_031857.2(PCDHA9):c.356T>C (p.Val119Ala)	PCDHA1, PCDHA2 +8 more (V119A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304749	NM_031857.2(PCDHA9):c.411A>C (p.Gln137His)	PCDHA1, PCDHA2 +8 more (Q137H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304748	NM_031857.2(PCDHA9):c.1645G>T (p.Val549Leu)	PCDHA1, PCDHA2 +8 more (V549L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304747	NM_031857.2(PCDHA9):c.239A>G (p.Gln80Arg)	PCDHA1, PCDHA2 +8 more (Q80R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304746	NM_031857.2(PCDHA9):c.2233G>T (p.Val745Leu)	PCDHA1, PCDHA2 +8 more (V745L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304745	NM_031857.2(PCDHA9):c.1919C>T (p.Thr640Met)	PCDHA1, PCDHA2 +8 more (T640M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304744	NM_018911.3(PCDHA8):c.1733G>A (p.Ser578Asn)	PCDHA1, PCDHA2 +7 more (S578N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304743	NM_018911.3(PCDHA8):c.1360G>T (p.Ala454Ser)	PCDHA1, PCDHA2 +7 more (A454S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304742	NM_018911.3(PCDHA8):c.301G>A (p.Glu101Lys)	PCDHA1, PCDHA2 +7 more (E101K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304741	NM_018911.3(PCDHA8):c.1730C>G (p.Ala577Gly)	PCDHA1, PCDHA2 +7 more (A577G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304740	NM_018911.3(PCDHA8):c.727G>C (p.Glu243Gln)	PCDHA1, PCDHA2 +7 more (E243Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304739	NM_018911.3(PCDHA8):c.1487A>G (p.Glu496Gly)	PCDHA1, PCDHA2 +7 more (E496G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304738	NM_018911.3(PCDHA8):c.1498G>A (p.Gly500Ser)	PCDHA1, PCDHA2 +7 more (G500S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304737	NM_018911.3(PCDHA8):c.1745C>G (p.Pro582Arg)	PCDHA1, PCDHA2 +7 more (P582R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304736	NM_018911.3(PCDHA8):c.2180C>T (p.Pro727Leu)	PCDHA1, PCDHA2 +7 more (P727L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304735	NM_018911.3(PCDHA8):c.835T>G (p.Tyr279Asp)	PCDHA1, PCDHA2 +7 more (Y279D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304734	NM_018911.3(PCDHA8):c.1342G>A (p.Val448Met)	PCDHA7, PCDHA@ +7 more (V448M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304733	NM_018911.3(PCDHA8):c.1667T>C (p.Leu556Pro)	PCDHA3, PCDHA4 +7 more (L556P)	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 3304664	NM_018902.5(PCDHA11):c.1157G>T (p.Cys386Phe)	LOC112267934, PCDHA1 +11 more (C386F)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3304663	NM_018902.5(PCDHA11):c.1218G>C (p.Leu406Phe)	LOC112267934, PCDHA1 +11 more (L406F)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3304662	NM_018902.5(PCDHA11):c.2290C>G (p.Pro764Ala)	LOC112267934, PCDHA1 +11 more (P764A)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3304661	NM_018902.5(PCDHA11):c.1625C>A (p.Pro542Gln)	LOC112267934, PCDHA1 +11 more (P542Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3304659	NM_018902.5(PCDHA11):c.392C>T (p.Pro131Leu)	LOC112267934, PCDHA1 +11 more (P131L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3304658	NM_018902.5(PCDHA11):c.1411T>C (p.Cys471Arg)	LOC112267934, PCDHA1 +11 more (C471R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3304657	NM_018902.5(PCDHA11):c.1504G>T (p.Ala502Ser)	LOC112267934, PCDHA1 +11 more (A502S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3304656	NM_018902.5(PCDHA11):c.2284G>A (p.Gly762Ser)	PCDHA4, PCDHA5 +11 more (G762S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3304655	NM_018902.5(PCDHA11):c.361G>A (p.Val121Met)	LOC112267934, PCDHA1 +11 more (V121M)	Single nucleotide variant (intron variant +2 more)	not specified	GUncertain significance
Select item 3304654	NM_018901.4(PCDHA10):c.233T>C (p.Leu78Pro)	PCDHA1, PCDHA10 +9 more (L78P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304653	NM_018901.4(PCDHA10):c.499C>G (p.Leu167Val)	PCDHA1, PCDHA10 +9 more (L167V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304652	NM_018901.4(PCDHA10):c.2377C>A (p.His793Asn)	PCDHA1, PCDHA10 +9 more (H793N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304651	NM_018901.4(PCDHA10):c.1759G>A (p.Gly587Ser)	PCDHA1, PCDHA10 +9 more (G587S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304649	NM_018901.4(PCDHA10):c.1285G>A (p.Gly429Arg)	PCDHA1, PCDHA10 +9 more (G429R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304648	NM_018901.4(PCDHA10):c.1502G>C (p.Arg501Pro)	PCDHA1, PCDHA10 +9 more (R501P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304647	NM_018901.4(PCDHA10):c.1600G>A (p.Val534Met)	PCDHA1, PCDHA10 +9 more (V534M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3304646	NM_018901.4(PCDHA10):c.1668C>G (p.Asp556Glu)	PCDHA1, PCDHA10 +9 more (D556E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304645	NM_018901.4(PCDHA10):c.1492T>G (p.Leu498Val)	PCDHA1, PCDHA10 +9 more (L498V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3257100	NM_031857.2(PCDHA9):c.219C>T (p.Asp73=)	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3239050	NM_018911.3(PCDHA8):c.2394+48G>A	PCDHA1, PCDHA2 +7 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3209515	NM_031857.2(PCDHA9):c.944C>A (p.Ala315Glu)	PCDHA1, PCDHA2 +8 more (A315E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209514	NM_031857.2(PCDHA9):c.404C>A (p.Ala135Glu)	PCDHA1, PCDHA2 +8 more (A135E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209513	NM_031857.2(PCDHA9):c.2380G>A (p.Asp794Asn)	PCDHA1, PCDHA2 +8 more (D794N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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