Related gene-specific medical variations for Gene (Select 56127) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304913	NM_019119.5(PCDHB9):c.824C>A (p.Ala275Glu)	PCDHB9, PCDHB@ (A275E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304912	NM_019119.5(PCDHB9):c.711C>A (p.Asp237Glu)	PCDHB9, PCDHB@ (D237E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209827	NM_019119.5(PCDHB9):c.896G>A (p.Gly299Glu)	PCDHB9, PCDHB@ (G299E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209825	NM_019119.5(PCDHB9):c.686G>T (p.Arg229Leu)	PCDHB9, PCDHB@ (R229L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209824	NM_019119.5(PCDHB9):c.543A>T (p.Lys181Asn)	PCDHB9, PCDHB@ (K181N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209823	NM_019119.5(PCDHB9):c.451G>C (p.Ala151Pro)	PCDHB9, PCDHB@ (A151P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655828	NM_019119.5(PCDHB9):c.1647A>G (p.Val549=)	PCDHB9, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655827	NM_019119.5(PCDHB9):c.1200T>C (p.Phe400=)	PCDHB9, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655826	NM_019119.5(PCDHB9):c.858A>G (p.Glu286=)	PCDHB9, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655825	NM_019119.5(PCDHB9):c.690T>C (p.Ile230=)	PCDHB9, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655824	NM_019119.5(PCDHB9):c.585G>T (p.Val195=)	PCDHB9, PCDHB@	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2606790	NM_019119.5(PCDHB9):c.641C>T (p.Ala214Val)	PCDHB9, PCDHB@ (A214V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591458	NM_019119.5(PCDHB9):c.325T>A (p.Leu109Ile)	PCDHB9, PCDHB@ (L109I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541255	NM_019119.5(PCDHB9):c.168G>T (p.Glu56Asp)	PCDHB9, PCDHB@ (E56D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525422	NM_019119.5(PCDHB9):c.904T>A (p.Phe302Ile)	PCDHB9, PCDHB@ (F302I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512048	NM_019119.5(PCDHB9):c.617A>G (p.Glu206Gly)	PCDHB9, PCDHB@ (E206G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2480490	NM_019119.5(PCDHB9):c.496A>G (p.Ser166Gly)	PCDHB9, PCDHB@ (S166G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2462944	NM_019119.5(PCDHB9):c.181G>A (p.Ala61Thr)	PCDHB9, PCDHB@ (A61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403179	NM_019119.5(PCDHB9):c.543A>C (p.Lys181Asn)	PCDHB9, PCDHB@ (K181N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391989	NM_019119.5(PCDHB9):c.2182C>A (p.Pro728Thr)	PCDHB9, PCDHB@ (P728T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370613	NM_019119.5(PCDHB9):c.886C>T (p.Pro296Ser)	PCDHB9, PCDHB@ (P296S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352686	NM_019119.5(PCDHB9):c.10A>G (p.Arg4Gly)	PCDHB9, PCDHB@ (R4G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2339057	NM_019119.5(PCDHB9):c.77C>T (p.Ala26Val)	PCDHB9, PCDHB@ (A26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334143	NM_019119.5(PCDHB9):c.686G>A (p.Arg229His)	PCDHB9, PCDHB@ (R229H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316752	NM_019119.5(PCDHB9):c.253C>T (p.Leu85Phe)	PCDHB9, PCDHB@ (L85F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316496	NM_019119.5(PCDHB9):c.685C>G (p.Arg229Gly)	PCDHB9, PCDHB@ (R229G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305814	NM_019119.5(PCDHB9):c.830T>C (p.Val277Ala)	PCDHB9, PCDHB@ (V277A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302772	NM_019119.5(PCDHB9):c.456T>G (p.Phe152Leu)	PCDHB9, PCDHB@ (F152L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300522	NM_019119.5(PCDHB9):c.421A>G (p.Lys141Glu)	PCDHB9, PCDHB@ (K141E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272552	NM_019119.5(PCDHB9):c.2195T>A (p.Phe732Tyr)	PCDHB9, PCDHB@ (F732Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270168	NM_019119.5(PCDHB9):c.746C>A (p.Thr249Asn)	PCDHB9, PCDHB@ (T249N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249868	NM_019119.5(PCDHB9):c.604C>G (p.Arg202Gly)	PCDHB9, PCDHB@ (R202G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238229	NM_019119.5(PCDHB9):c.887C>T (p.Pro296Leu)	PCDHB9, PCDHB@ (P296L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235401	NM_019119.5(PCDHB9):c.371G>A (p.Arg124Lys)	PCDHB9, PCDHB@ (R124K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Links from Gene

Items: 34