"Ambry Genetics"[submitter] AND "PCDHB7"[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2248936	NM_018940.4(PCDHB7):c.17A>G (p.Glu6Gly)	PCDHB@, PCDHB7 (E6G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480729	NM_018940.4(PCDHB7):c.89C>T (p.Pro30Leu)	PCDHB7, PCDHB@ (P30L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475323	NM_018940.4(PCDHB7):c.176T>C (p.Leu59Pro)	PCDHB7, PCDHB@ (L59P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519338	NM_018940.4(PCDHB7):c.181G>T (p.Ala61Ser)	PCDHB7, PCDHB@ (A61S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262804	NM_018940.4(PCDHB7):c.299A>G (p.Glu100Gly)	PCDHB@, PCDHB7 (E100G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526606	NM_018940.4(PCDHB7):c.458T>G (p.Leu153Arg)	PCDHB7, PCDHB@ (L153R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278806	NM_018940.4(PCDHB7):c.481G>T (p.Asp161Tyr)	PCDHB7, PCDHB@ (D161Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551436	NM_018940.4(PCDHB7):c.484G>A (p.Val162Ile)	PCDHB7, PCDHB@ (V162I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339143	NM_018940.4(PCDHB7):c.506A>G (p.Asn169Ser)	PCDHB7, PCDHB@ (N169S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271277	NM_018940.4(PCDHB7):c.653G>T (p.Gly218Val)	PCDHB@, PCDHB7 (G218V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227566	NM_018940.4(PCDHB7):c.721G>A (p.Asp241Asn)	PCDHB@, PCDHB7 (D241N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257538	NM_018940.4(PCDHB7):c.736C>T (p.Leu246Phe)	PCDHB7, PCDHB@ (L246F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617628	NM_018940.4(PCDHB7):c.750G>T (p.Gln250His)	PCDHB7, PCDHB@ (Q250H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249717	NM_018940.4(PCDHB7):c.769G>T (p.Val257Phe)	PCDHB@, PCDHB7 (V257F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254036	NM_018940.4(PCDHB7):c.886C>A (p.Pro296Thr)	PCDHB7, PCDHB@ (P296T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539640	NM_018940.4(PCDHB7):c.914C>G (p.Ala305Gly)	PCDHB7, PCDHB@ (A305G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604851	NM_018940.4(PCDHB7):c.922G>A (p.Asp308Asn)	PCDHB7, PCDHB@ (D308N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2344781	NM_018940.4(PCDHB7):c.1015G>C (p.Asp339His)	PCDHB@, PCDHB7 (D339H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322439	NM_018940.4(PCDHB7):c.1028A>C (p.Asn343Thr)	PCDHB@, PCDHB7 (N343T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277093	NM_018940.4(PCDHB7):c.1063C>T (p.Pro355Ser)	PCDHB7, PCDHB@ (P355S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367597	NM_018940.4(PCDHB7):c.1067T>C (p.Ile356Thr)	PCDHB@, PCDHB7 (I356T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545722	NM_018940.4(PCDHB7):c.1093G>C (p.Val365Leu)	PCDHB7, PCDHB@ (V365L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320877	NM_018940.4(PCDHB7):c.1122T>A (p.Asp374Glu)	PCDHB7, PCDHB@ (D374E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403135	NM_018940.4(PCDHB7):c.1124C>T (p.Ser375Phe)	PCDHB7, PCDHB@ (S375F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379539	NM_018940.4(PCDHB7):c.1169C>T (p.Pro390Leu)	PCDHB@, PCDHB7 (P390L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296324	NM_018940.4(PCDHB7):c.1247A>C (p.Glu416Ala)	PCDHB@, PCDHB7 (E416A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385060	NM_018940.4(PCDHB7):c.1334A>G (p.Asn445Ser)	PCDHB@, PCDHB7 (N445S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466188	NM_018940.4(PCDHB7):c.1346C>A (p.Pro449His)	PCDHB7, PCDHB@ (P449H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247820	NM_018940.4(PCDHB7):c.1352T>C (p.Phe451Ser)	PCDHB@, PCDHB7 (F451S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304055	NM_018940.4(PCDHB7):c.1364C>T (p.Ser455Phe)	PCDHB@, PCDHB7 (S455F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344593	NM_018940.4(PCDHB7):c.1411G>A (p.Gly471Ser)	PCDHB7, PCDHB@ (G471S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455700	NM_018940.4(PCDHB7):c.1417G>C (p.Val473Leu)	PCDHB7, PCDHB@ (V473L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602317	NM_018940.4(PCDHB7):c.1459A>G (p.Ile487Val)	PCDHB7, PCDHB@ (I487V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407996	NM_018940.4(PCDHB7):c.1486C>T (p.Pro496Ser)	PCDHB7, PCDHB@ (P496S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536332	NM_018940.4(PCDHB7):c.1514C>A (p.Ser505Tyr)	PCDHB7, PCDHB@ (S505Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467635	NM_018940.4(PCDHB7):c.1528A>T (p.Asn510Tyr)	PCDHB7, PCDHB@ (N510Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270982	NM_018940.4(PCDHB7):c.1542T>A (p.Phe514Leu)	PCDHB@, PCDHB7 (F514L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228041	NM_018940.4(PCDHB7):c.1568C>T (p.Ala523Val)	PCDHB@, PCDHB7 (A523V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353053	NM_018940.4(PCDHB7):c.1600A>T (p.Thr534Ser)	PCDHB@, PCDHB7 (T534S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249126	NM_018940.4(PCDHB7):c.1607G>C (p.Arg536Pro)	PCDHB@, PCDHB7 (R536P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295585	NM_018940.4(PCDHB7):c.1667A>T (p.Asp556Val)	PCDHB@, PCDHB7 (D556V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217781	NM_018940.4(PCDHB7):c.1701C>G (p.Asn567Lys)	PCDHB@, PCDHB7 (N567K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367522	NM_018940.4(PCDHB7):c.1708G>A (p.Ala570Thr)	PCDHB7, PCDHB@ (A570T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463732	NM_018940.4(PCDHB7):c.1736C>T (p.Ala579Val)	PCDHB7, PCDHB@ (A579V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491478	NM_018940.4(PCDHB7):c.1780G>A (p.Gly594Ser)	PCDHB7, PCDHB@ (G594S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338402	NM_018940.4(PCDHB7):c.1816C>G (p.Leu606Val)	PCDHB7, PCDHB@ (L606V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335744	NM_018940.4(PCDHB7):c.1850T>A (p.Val617Glu)	PCDHB@, PCDHB7 (V617E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214222	NM_018940.4(PCDHB7):c.1912C>A (p.Gln638Lys)	PCDHB7, PCDHB@ (Q638K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386187	NM_018940.4(PCDHB7):c.1954C>T (p.Arg652Cys)	PCDHB@, PCDHB7 (R652C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403117	NM_018940.4(PCDHB7):c.2044A>G (p.Asn682Asp)	PCDHB@, PCDHB7 (N682D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2297742	NM_018940.4(PCDHB7):c.2150C>A (p.Ala717Glu)	PCDHB@, PCDHB7 (A717E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267693	NM_018940.4(PCDHB7):c.2219C>G (p.Thr740Ser)	PCDHB7, PCDHB@ (T740S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569872	NM_018940.4(PCDHB7):c.2353C>A (p.Arg785Ser)	PCDHB7, PCDHB@ (R785S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 53