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 3060948	NM_031857.2(PCDHA9):c.2291A>C (p.Lys764Thr)	PCDHA1, PCDHA2 +8 more (K764T)	Single nucleotide variant (missense variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3060256	NM_031857.2(PCDHA9):c.1446T>G (p.Ala482=)	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3060050	NM_031857.2(PCDHA9):c.84C>A (p.Ser28Arg)	PCDHA1, PCDHA2 +8 more (S28R)	Single nucleotide variant (missense variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3059964	NM_031857.2(PCDHA9):c.1714G>C (p.Gly572Arg)	PCDHA1, PCDHA2 +8 more (G572R)	Single nucleotide variant (missense variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3059871	NM_031857.2(PCDHA9):c.2290A>C (p.Lys764Gln)	PCDHA1, PCDHA2 +8 more (K764Q)	Single nucleotide variant (missense variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3059481	NM_031857.2(PCDHA9):c.1288G>C (p.Gly430Arg)	PCDHA1, PCDHA2 +8 more (G430R)	Single nucleotide variant (missense variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3059471	NM_031857.2(PCDHA9):c.330A>G (p.Val110=)	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3059467	NM_031857.2(PCDHA9):c.1006C>G (p.Leu336Val)	PCDHA1, PCDHA2 +8 more (L336V)	Single nucleotide variant (missense variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3058838	NM_031857.2(PCDHA9):c.333C>A (p.Asp111Glu)	PCDHA1, PCDHA2 +8 more (D111E)	Single nucleotide variant (missense variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3057223	NM_031857.2(PCDHA9):c.1845G>C (p.Thr615=)	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3056454	NM_031857.2(PCDHA9):c.1236T>C (p.Ala412=)	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA9-related condition	GBenign
Select item 3056295	NM_031857.2(PCDHA9):c.2042G>A (p.Arg681Gln)	PCDHA5, PCDHA1 +8 more (R681Q)	Single nucleotide variant (missense variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3056215	NM_031857.2(PCDHA9):c.1614C>G (p.Arg538=)	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3055729	NM_031857.2(PCDHA9):c.2394+59G>A	PCDHA1, PCDHA2 +8 more (R818Q)	Single nucleotide variant (missense variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3055538	NM_031857.2(PCDHA9):c.1501G>C (p.Glu501Gln)	PCDHA1, PCDHA2 +8 more (E501Q)	Single nucleotide variant (missense variant +1 more)	PCDHA9-related condition	GBenign
Select item 3052713	NM_031857.2(PCDHA9):c.1600C>T (p.Gln534Ter)	PCDHA1, PCDHA2 +8 more (Q534*)	Single nucleotide variant (nonsense +1 more)	PCDHA9-related condition	GLikely benign
Select item 3052430	NM_031857.2(PCDHA9):c.816C>T (p.Gly272=)	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3052417	NM_031857.2(PCDHA9):c.1179C>T (p.Val393=)	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3052270	NM_031857.2(PCDHA9):c.2199G>A (p.Ala733=)	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3051982	NM_031857.2(PCDHA9):c.1302A>G (p.Ser434=)	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3050048	NM_031857.2(PCDHA9):c.366G>A (p.Glu122=)	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3045871	NM_031857.2(PCDHA9):c.1834C>A (p.Gln612Lys)	PCDHA1, PCDHA2 +8 more (Q612K)	Single nucleotide variant (missense variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3045778	NM_031857.2(PCDHA9):c.2394+74C>A	PCDHA1, PCDHA2 +8 more (A823D)	Single nucleotide variant (missense variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3045647	NM_031857.2(PCDHA9):c.1356A>T (p.Ala452=)	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA9-related condition	GBenign
Select item 3045083	NM_031857.2(PCDHA9):c.1419C>T (p.His473=)	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3044886	NM_018904.3(PCDHA13):c.2802C>T (p.Thr934=)	PCDHA1, PCDHA10 +15 more	Single nucleotide variant (synonymous variant)	PCDHA13-related condition	GBenign
Select item 3044804	NM_018904.3(PCDHA13):c.2543-9_2543-8del	PCDHA1, PCDHA10 +15 more	Deletion (intron variant)	PCDHA13-related condition	GLikely benign
Select item 3041669	NM_031857.2(PCDHA9):c.2304C>T (p.Asp768=)	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3041470	NM_031857.2(PCDHA9):c.1155T>G (p.Val385=)	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA9-related condition	GBenign
Select item 3041347	NM_031857.2(PCDHA9):c.114A>G (p.Glu38=)	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3041288	NM_031857.2(PCDHA9):c.117C>T (p.Ala39=)	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (intron variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3039327	NM_031857.2(PCDHA9):c.192C>G (p.Phe64Leu)	PCDHA1, PCDHA2 +8 more (F64L)	Single nucleotide variant (missense variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3037760	NM_031857.2(PCDHA9):c.118G>A (p.Glu40Lys)	PCDHA1, PCDHA2 +8 more (E40K)	Single nucleotide variant (missense variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3037401	NM_031857.2(PCDHA9):c.393A>G (p.Pro131=)	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3034893	NM_031857.2(PCDHA9):c.2091C>T (p.Asn697=)	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3033117	NM_031857.2(PCDHA9):c.2057C>A (p.Ala686Asp)	PCDHA1, PCDHA2 +8 more (A686D)	Single nucleotide variant (missense variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3031958	NM_031857.2(PCDHA9):c.1383G>A (p.Thr461=)	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3031697	NM_031857.2(PCDHA9):c.1907C>T (p.Ala636Val)	PCDHA1, PCDHA2 +8 more (A636V)	Single nucleotide variant (missense variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3031692	NM_031857.2(PCDHA9):c.1365C>T (p.Phe455=)	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3031091	NM_031857.2(PCDHA9):c.1320G>A (p.Arg440=)	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA9-related condition	GLikely benign
Select item 3024695	NM_018903.4(PCDHA12):c.309T>C (p.Ser103=)	LOC112267934, PCDHA1 +12 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 3024694	NM_018903.4(PCDHA12):c.299C>T (p.Ala100Val)	LOC112267934, PCDHA1 +12 more (A100V)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2673031	NM_018899.6(PCDHAC2):c.1911G>A (p.Leu637=)	PCDHA1, PCDHA10 +14 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2673030	NM_018901.4(PCDHA10):c.2052C>T (p.Gly684=)	PCDHA1, PCDHA10 +9 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655805	NM_018899.6(PCDHAC2):c.2460G>A (p.Ser820=)	PCDHA1, PCDHA10 +14 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655804	NM_018899.6(PCDHAC2):c.1161C>G (p.Leu387=)	PCDHA1, PCDHA10 +14 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655803	NM_018899.6(PCDHAC2):c.480G>T (p.Ser160=)	PCDHA1, PCDHA10 +14 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655802	NM_018898.5(PCDHAC1):c.1671T>C (p.Phe557=)	PCDHA9, PCDHA@ +13 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655801	NM_018904.3(PCDHA13):c.2202G>A (p.Pro734=)	PCDHA1, PCDHA10 +12 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655800	NM_018904.3(PCDHA13):c.2164C>A (p.Arg722=)	PCDHA1, PCDHA10 +12 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655799	NM_018907.4(PCDHA4):c.2385+74492C>A	PCDHA1, PCDHA10 +12 more (A599D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2655798	NM_018902.5(PCDHA11):c.2391+12410G>A	PCDHA1, PCDHA10 +12 more (G546S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2655797	NM_018904.3(PCDHA13):c.1428G>C (p.Thr476=)	PCDHA1, PCDHA10 +12 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655796	NM_018904.3(PCDHA13):c.292C>A (p.Arg98=)	PCDHA2, PCDHA1 +12 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655795	NM_018903.4(PCDHA12):c.1813G>T (p.Ala605Ser)	PCDHA6, PCDHA7 +11 more (A605S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2655794	NM_018903.4(PCDHA12):c.768A>G (p.Gln256=)	PCDHA1, PCDHA10 +11 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655793	NM_018902.5(PCDHA11):c.1800A>C (p.Ser600=)	LOC112267934, PCDHA1 +11 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2655792	NM_018902.5(PCDHA11):c.1407A>G (p.Pro469=)	LOC112267934, PCDHA1 +11 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2655791	NM_018902.5(PCDHA11):c.516A>G (p.Leu172=)	LOC112267934, PCDHA1 +11 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2655790	NM_018907.4(PCDHA4):c.2385+59713A>C	LOC112267934, PCDHA1 +11 more (Q61P)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2655789	NM_018902.5(PCDHA11):c.98A>G (p.Tyr33Cys)	LOC112267934, PCDHA1 +11 more (Y33C)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2655788	NM_018907.4(PCDHA4):c.2385+53659C>T	PCDHA1, PCDHA10 +9 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2655787	NM_018907.4(PCDHA4):c.2385+53642A>G	PCDHA3, PCDHA4 +9 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2655786	NM_018907.4(PCDHA4):c.2385+53502A>G	PCDHA1, PCDHA10 +9 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2655785	NM_018901.4(PCDHA10):c.2247G>A (p.Ser749=)	PCDHA1, PCDHA10 +9 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655784	NM_018901.4(PCDHA10):c.2220T>C (p.Ser740=)	PCDHA1, PCDHA10 +9 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655783	NM_018901.4(PCDHA10):c.2017C>T (p.Gln673Ter)	PCDHA2, PCDHA3 +9 more (Q673*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 2655782	NM_018901.4(PCDHA10):c.1863T>C (p.Phe621=)	PCDHA1, PCDHA10 +9 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655781	NM_018901.4(PCDHA10):c.1800T>C (p.Ser600=)	PCDHA1, PCDHA10 +9 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655780	NM_018901.4(PCDHA10):c.1668C>T (p.Asp556=)	PCDHA1, PCDHA10 +9 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655779	NM_018901.4(PCDHA10):c.1416C>G (p.His472Gln)	PCDHA1, PCDHA10 +9 more (H472Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2655778	NM_018901.4(PCDHA10):c.1014_1022del (p.Glu338_Leu340del)	PCDHA2, PCDHA3 +9 more	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2655777	NM_018901.4(PCDHA10):c.179A>C (p.Gln60Pro)	PCDHA1, PCDHA10 +9 more (Q60P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2655776	NM_031857.2(PCDHA9):c.2046G>T (p.Ala682=)	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655775	NM_018907.4(PCDHA4):c.2385+39616G>A	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655774	NM_018907.4(PCDHA4):c.2385+39447A>G	PCDHA1, PCDHA2 +8 more (N175S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2655773	NM_018907.4(PCDHA4):c.2385+39349C>A	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655772	NM_031857.2(PCDHA9):c.286T>G (p.Cys96Gly)	PCDHA1, PCDHA2 +8 more (C96G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2655771	NM_031857.2(PCDHA9):c.123C>T (p.His41=)	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA9-related condition +1 more	GLikely benign
Select item 2655770	NM_018900.4(PCDHA1):c.2394+59919G>C	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA9-related condition +1 more	GLikely benign
Select item 2655769	NM_018900.4(PCDHA1):c.2394+59913C>G	PCDHA1, PCDHA3 +8 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA9-related condition +1 more	GLikely benign
Select item 2655768	NM_018911.3(PCDHA8):c.1020T>C (p.Ile340=)	PCDHA3, PCDHA4 +7 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655767	NM_018911.3(PCDHA8):c.780A>G (p.Thr260=)	PCDHA4, PCDHA5 +7 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655766	NM_018911.3(PCDHA8):c.4G>A (p.Asp2Asn)	PCDHA1, PCDHA2 +7 more (D2N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2624038	NM_018901.4(PCDHA10):c.1070C>T (p.Pro357Leu)	PCDHA1, PCDHA10 +9 more (P357L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2623726	NM_018903.4(PCDHA12):c.145G>T (p.Ala49Ser)	LOC112267934, PCDHA1 +12 more (A49S)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2622763	NM_031857.2(PCDHA9):c.1205A>G (p.Lys402Arg)	PCDHA1, PCDHA2 +8 more (K402R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622061	NM_018898.5(PCDHAC1):c.1771G>T (p.Gly591Cys)	PCDHA2, PCDHA3 +13 more (G591C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621776	NM_018904.3(PCDHA13):c.849G>T (p.Arg283Ser)	PCDHA1, PCDHA10 +12 more (R283S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620601	NM_018904.3(PCDHA13):c.2141C>G (p.Thr714Arg)	PCDHA13, PCDHA2 +12 more (T714R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620600	NM_018904.3(PCDHA13):c.182C>A (p.Pro61Gln)	PCDHA1, PCDHA10 +12 more (P61Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620507	NM_018901.4(PCDHA10):c.848T>C (p.Leu283Ser)	PCDHA1, PCDHA10 +9 more (L283S)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619201	NM_018899.6(PCDHAC2):c.2207C>A (p.Ala736Glu)	PCDHA1, PCDHA13 +14 more (A736E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618923	NM_018911.3(PCDHA8):c.1730C>T (p.Ala577Val)	PCDHA1, PCDHA2 +7 more (A577V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2618111	NM_018902.5(PCDHA11):c.995A>G (p.His332Arg)	PCDHA7, PCDHA@ +11 more (H332R)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2617393	NM_018911.3(PCDHA8):c.1637G>A (p.Gly546Asp)	PCDHA1, PCDHA2 +7 more (G546D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616930	NM_018904.3(PCDHA13):c.1955A>G (p.Lys652Arg)	PCDHA9, PCDHA@ +12 more (K652R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616131	NM_018898.5(PCDHAC1):c.604G>A (p.Val202Met)	PCDHA1, PCDHA10 +13 more (V202M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614732	NM_018901.4(PCDHA10):c.2162G>T (p.Cys721Phe)	PCDHA1, PCDHA10 +9 more (C721F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614280	NM_018902.5(PCDHA11):c.2306T>C (p.Met769Thr)	LOC112267934, PCDHA1 +11 more (M769T)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance

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