"PreventionGenetics, part of Exact Sciences"[submitter] AND "PCDHA5"[g - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 disorder	GLikely benign
Select item 2655769	NM_018900.4(PCDHA1):c.2394+59913C>G	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA9-related disorder +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 disorder +1 more	GLikely benign
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 disorder	GLikely benign
Select item 3041288	NM_031857.2(PCDHA9):c.117C>T (p.Ala39=)	PCDHA1, PCDHA2 +8 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA9-related disorder	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 disorder	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 disorder +1 more	GLikely benign
Select item 2540877	NM_031857.2(PCDHA9):c.128C>A (p.Thr43Asn)	PCDHA1, PCDHA2 +8 more (T43N)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 disorder	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 disorder	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 disorder	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 disorder	GLikely benign
Select item 3037401	NM_031857.2(PCDHA9):c.393A>G (p.Pro131=)	PCDHA3, PCDHA1 +8 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA9-related disorder	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 disorder	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 disorder	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 disorder	GBenign
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 disorder	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 disorder	GBenign
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 disorder	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 disorder	GLikely benign
Select item 3031091	NM_031857.2(PCDHA9):c.1320G>A (p.Arg440=)	PCDHA6, PCDHA7 +8 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA9-related disorder	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 disorder	GBenign
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 disorder	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 disorder	GLikely benign
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 disorder	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 disorder	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 disorder	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 disorder	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 disorder	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 disorder	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 disorder	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 disorder	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 disorder	GLikely benign
Select item 3056295	NM_031857.2(PCDHA9):c.2042G>A (p.Arg681Gln)	PCDHA1, PCDHA2 +8 more (R681Q)	Single nucleotide variant (missense variant +1 more)	PCDHA9-related disorder	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 disorder	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 disorder	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 disorder	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 disorder	GLikely benign
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 disorder	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 disorder	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 disorder	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 disorder	GLikely benign
Select item 770914	NM_018903.4(PCDHA12):c.2492C>G (p.Pro831Arg)	PCDHA4, PCDHA6 +15 more (P576R +10 more)	Single nucleotide variant (missense variant)	PCDHA9-related disorder +1 more	GBenign/Likely benign
Select item 3044804	NM_018904.3(PCDHA13):c.2543-9_2543-8del	PCDHA1, PCDHA10 +15 more	Deletion (intron variant)	PCDHA13-related disorder	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 disorder	GBenign

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Items: 45