Related gene-specific medical variations for Gene (Select 8924) - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258088	NM_004667.6(HERC2):c.592C>T (p.Arg198Ter)	HERC2 (R198*)	Single nucleotide variant (nonsense)	Developmental delay with autism spectrum disorder and gait instability	GLikely pathogenic
Select item 3065557	NM_004667.6(HERC2):c.6289G>A (p.Val2097Met)	HERC2 (V2097M)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	GUncertain significance
Select item 3065359	NM_004667.6(HERC2):c.7704_7716+5del	HERC2	Deletion (splice donor variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	GLikely pathogenic
Select item 2671959	NM_004667.6(HERC2):c.7745C>T (p.Ala2582Val)	HERC2 (A2582V)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability	GUncertain significance
Select item 2575821	NM_004667.6(HERC2):c.2317-11T>G	HERC2, LOC129390675	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2441855	NM_004667.6(HERC2):c.5315C>T (p.Pro1772Leu)	HERC2 (P1772L)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability	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 2432440	NM_004667.6(HERC2):c.8451+8C>A	HERC2	Single nucleotide variant (intron 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 2432437	NM_004667.6(HERC2):c.8867C>T (p.Thr2956Met)	HERC2 (T2956M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432436	NM_004667.6(HERC2):c.13272+5C>T	HERC2	Single nucleotide variant (intron 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
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 2432431	NM_004667.6(HERC2):c.9657G>A (p.Ala3219=)	HERC2	Single nucleotide variant (synonymous 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 2432428	NM_004667.6(HERC2):c.4882G>C (p.Gly1628Arg)	HERC2 (G1628R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2432426	NM_004667.6(HERC2):c.10430A>G (p.Asp3477Gly)	HERC2 (D3477G)	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 2432424	NM_004667.6(HERC2):c.4497C>A (p.Gly1499=)	HERC2	Single nucleotide variant (synonymous 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 2432421	NM_004667.6(HERC2):c.3260C>T (p.Ser1087Phe)	HERC2 (S1087F)	Single nucleotide variant (missense variant)	not provided	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 2432419	NM_004667.6(HERC2):c.4590A>G (p.Ile1530Met)	HERC2 (I1530M)	Single nucleotide variant (missense 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 2432417	NM_004667.6(HERC2):c.13966G>A (p.Val4656Ile)	HERC2 (V4656I)	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 2432415	NM_004667.6(HERC2):c.2465C>A (p.Pro822His)	HERC2 (P822H)	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 2432413	NM_004667.6(HERC2):c.5453T>C (p.Leu1818Pro)	HERC2 (L1818P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696690	NM_004667.6(HERC2):c.13279C>T (p.Arg4427Ter)	HERC2 (R4427*)	Single nucleotide variant (nonsense)	Developmental delay with autism spectrum disorder and gait instability	GLikely pathogenic
Select item 1342430	NM_004667.6(HERC2):c.13438G>A (p.Gly4480Ser)	HERC2 (G4480S)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability	GUncertain significance
Select item 1342429	NM_004667.6(HERC2):c.1168C>T (p.Arg390Ter)	HERC2 (R390*)	Single nucleotide variant (nonsense)	Developmental delay with autism spectrum disorder and gait instability	GPathogenic
Select item 1330225	NM_004667.6(HERC2):c.5795C>T (p.Pro1932Leu)	HERC2 (P1932L)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability	GUncertain significance
Select item 931703	NM_004667.6(HERC2):c.11701-1G>A	HERC2	Single nucleotide variant (splice acceptor variant)	Prader-Willi syndrome	GPathogenic
Select item 930652	NM_004667.6(HERC2):c.8598C>G (p.Ile2866Met)	HERC2 (I2866M)	Single nucleotide variant (missense variant)	Prader-Willi syndrome	GUncertain significance
Select item 872638	NM_004667.6(HERC2):c.9607A>C (p.Asn3203His)	HERC2 (N3203H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804471	NM_004667.6(HERC2):c.7768_7772dup (p.Gly2592fs)	HERC2 (G2592fs)	Duplication (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +1 more	GLikely pathogenic
Select item 713580	NM_004667.6(HERC2):c.2334A>G (p.Ser778=)	HERC2, LOC129390675	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 686237	GRCh37/hg19 15q13.1(chr15:28356997-28438862)x3	HERC2	Copy number gain	not provided	GUncertain significance
Select item 685285	GRCh37/hg19 15q13.1(chr15:28440688-28644578)x3	HERC2	Copy number gain	not provided	GUncertain significance
Select item 523075	NM_004667.6(HERC2):c.6335C>T (p.Ser2112Phe)	HERC2 (S2112F)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability	GUncertain significance
Select item 522952	NM_004667.6(HERC2):c.9710T>A (p.Leu3237Ter)	HERC2 (L3237*)	Single nucleotide variant (nonsense)	Developmental delay with autism spectrum disorder and gait instability	GPathogenic
Select item 377360	NM_004667.6(HERC2):c.4009C>T (p.Leu1337Phe)	HERC2 (L1337F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 376851	NM_004667.6(HERC2):c.2945A>G (p.His982Arg)	HERC2 (H982R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 375976	NM_004667.6(HERC2):c.926C>G (p.Ala309Gly)	HERC2 (A309G)	Single nucleotide variant (missense variant)	Breast neoplasm	GPathogenic
Select item 375975	NM_004667.6(HERC2):c.2264T>C (p.Leu755Ser)	HERC2 (L755S)	Single nucleotide variant (missense variant)	Breast neoplasm	GPathogenic
Select item 375974	NM_004667.6(HERC2):c.2263_2277del (p.Leu755_Asp759del)	HERC2	Deletion (inframe_deletion)	Breast neoplasm	GPathogenic
Select item 235476	NM_004667.6(HERC2):c.5132C>T (p.Thr1711Ile)	HERC2 (T1711I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4745	NM_004667.6(HERC2):c.13272+874T>C	HERC2, LOC128772394	Single nucleotide variant (intron variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Gassociation

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Links from Gene

Items: 50