"Revvity Omics, Revvity"[submitter] AND "HERC2"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1317814	NM_004667.6(HERC2):c.14015C>T (p.Thr4672Met)	HERC2 (T4672M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2432417	NM_004667.6(HERC2):c.13966G>A (p.Val4656Ile)	HERC2 (V4656I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432423	NM_004667.6(HERC2):c.13894C>T (p.Arg4632Trp)	HERC2 (R4632W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432441	NM_004667.6(HERC2):c.13570G>A (p.Ala4524Thr)	HERC2 (A4524T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 728512	NM_004667.6(HERC2):c.13566G>A (p.Pro4522=)	HERC2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2432436	NM_004667.6(HERC2):c.13272+5C>T	HERC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 450669	NM_004667.6(HERC2):c.12697T>A (p.Ser4233Thr)	HERC2 (S4233T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432430	NM_004667.6(HERC2):c.12416C>T (p.Ala4139Val)	HERC2 (A4139V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432439	NM_004667.6(HERC2):c.10432G>A (p.Ala3478Thr)	HERC2 (A3478T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432426	NM_004667.6(HERC2):c.10430A>G (p.Asp3477Gly)	HERC2 (D3477G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432438	NM_004667.6(HERC2):c.9824C>T (p.Ser3275Leu)	HERC2 (S3275L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432431	NM_004667.6(HERC2):c.9657G>A (p.Ala3219=)	HERC2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2432437	NM_004667.6(HERC2):c.8867C>T (p.Thr2956Met)	HERC2 (T2956M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1032258	NM_004667.6(HERC2):c.8820C>G (p.Ser2940Arg)	HERC2 (S2940R)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability +2 more	GUncertain significance
Select item 2432434	NM_004667.6(HERC2):c.8740C>T (p.Arg2914Cys)	HERC2 (R2914C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432440	NM_004667.6(HERC2):c.8451+8C>A	HERC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 782884	NM_004667.6(HERC2):c.8329A>G (p.Met2777Val)	HERC2 (M2777V)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability +1 more	GConflicting classifications of pathogenicity
Select item 2432427	NM_004667.6(HERC2):c.6748C>T (p.Arg2250Trp)	HERC2 (R2250W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432413	NM_004667.6(HERC2):c.5453T>C (p.Leu1818Pro)	HERC2 (L1818P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432428	NM_004667.6(HERC2):c.4882G>C (p.Gly1628Arg)	HERC2 (G1628R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432419	NM_004667.6(HERC2):c.4590A>G (p.Ile1530Met)	HERC2 (I1530M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432424	NM_004667.6(HERC2):c.4497C>A (p.Gly1499=)	HERC2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2432418	NM_004667.6(HERC2):c.4191C>A (p.Asp1397Glu)	HERC2 (D1397E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2304475	NM_004667.6(HERC2):c.3757G>A (p.Ala1253Thr)	HERC2 (A1253T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2432422	NM_004667.6(HERC2):c.3705A>G (p.Ile1235Met)	HERC2 (I1235M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2432421	NM_004667.6(HERC2):c.3260C>T (p.Ser1087Phe)	HERC2 (S1087F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432416	NM_004667.6(HERC2):c.3143C>A (p.Ser1048Tyr)	HERC2 (S1048Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432432	NM_004667.6(HERC2):c.2870A>G (p.Gln957Arg)	HERC2 (Q957R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432414	NM_004667.6(HERC2):c.2655C>T (p.Ala885=)	HERC2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2432415	NM_004667.6(HERC2):c.2465C>A (p.Pro822His)	HERC2 (P822H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432435	NM_004667.6(HERC2):c.1627G>A (p.Ala543Thr)	HERC2 (A543T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 449032	NM_004667.6(HERC2):c.1012T>G (p.Leu338Val)	HERC2 (L338V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2432420	NM_004667.6(HERC2):c.726C>G (p.Asp242Glu)	HERC2 (D242E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432425	NM_004667.6(HERC2):c.612C>T (p.Ala204=)	HERC2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2432442	NM_004667.6(HERC2):c.545C>T (p.Ser182Phe)	HERC2 (S182F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432433	NM_004667.6(HERC2):c.517T>G (p.Ser173Ala)	HERC2 (S173A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 36