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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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)	Inborn genetic diseases +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)	Inborn genetic diseases +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 36