"Baylor Genetics"[submitter] AND "HERC2"[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028801	NM_004667.6(HERC2):c.14498G>A (p.Gly4833Glu)	HERC2 (G4833E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1028800	NM_004667.6(HERC2):c.13861C>T (p.His4621Tyr)	HERC2 (H4621Y)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability	GUncertain significance
Select item 1028799	NM_004667.6(HERC2):c.13374C>G (p.Ser4458Arg)	HERC2 (S4458R)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability	GUncertain significance
Select item 1031457	NM_004667.6(HERC2):c.13034C>T (p.Ala4345Val)	HERC2 (A4345V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1031456	NM_004667.6(HERC2):c.12943G>A (p.Ala4315Thr)	HERC2 (A4315T)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability	GUncertain significance
Select item 397626	NM_004667.6(HERC2):c.12757G>A (p.Ala4253Thr)	HERC2 (A4253T)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability +2 more	GUncertain significance
Select item 1028798	NM_004667.6(HERC2):c.12599T>C (p.Val4200Ala)	HERC2 (V4200A)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability	GUncertain significance
Select item 1318474	NM_004667.6(HERC2):c.9179C>T (p.Thr3060Met)	HERC2 (T3060M)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability +1 more	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 1029886	NM_004667.6(HERC2):c.8614G>C (p.Asp2872His)	HERC2 (D2872H)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability	GUncertain significance
Select item 1032257	NM_004667.6(HERC2):c.8509G>A (p.Val2837Ile)	HERC2 (V2837I)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability	GUncertain significance
Select item 1029885	NM_004667.6(HERC2):c.8461C>T (p.Arg2821Cys)	HERC2 (R2821C)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability	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 1032256	NM_004667.6(HERC2):c.8305C>T (p.Arg2769Cys)	HERC2 (R2769C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1032255	NM_004667.6(HERC2):c.8179G>C (p.Asp2727His)	HERC2 (D2727H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 930448	NM_004667.6(HERC2):c.8012C>G (p.Ala2671Gly)	HERC2 (A2671G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2671959	NM_004667.6(HERC2):c.7745C>T (p.Ala2582Val)	HERC2 (A2582V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 986052	NM_004667.6(HERC2):c.7576G>A (p.Glu2526Lys)	HERC2 (E2526K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1029884	NM_004667.6(HERC2):c.7069+3G>A	HERC2	Single nucleotide variant (intron variant)	Prader-Willi syndrome	GUncertain significance
Select item 1029883	NM_004667.6(HERC2):c.6730G>A (p.Val2244Met)	HERC2 (V2244M)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability	GUncertain significance
Select item 1032254	NM_004667.6(HERC2):c.6385C>T (p.Arg2129Cys)	HERC2 (R2129C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029882	NM_004667.6(HERC2):c.5872C>G (p.His1958Asp)	HERC2 (H1958D)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability	GUncertain significance
Select item 1031465	NM_004667.6(HERC2):c.5841C>G (p.Asp1947Glu)	HERC2 (D1947E)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability	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 1031464	NM_004667.6(HERC2):c.4582C>T (p.Leu1528Phe)	HERC2 (L1528F)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability +1 more	GUncertain significance
Select item 1029881	NM_004667.6(HERC2):c.4370T>C (p.Leu1457Ser)	HERC2 (L1457S)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability	GUncertain significance
Select item 1031463	NM_004667.6(HERC2):c.4342G>A (p.Glu1448Lys)	HERC2 (E1448K)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability	GUncertain significance
Select item 1031462	NM_004667.6(HERC2):c.4154G>A (p.Gly1385Glu)	HERC2 (G1385E)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability	GUncertain significance
Select item 1029880	NM_004667.6(HERC2):c.4043C>T (p.Thr1348Ile)	HERC2 (T1348I)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability	GUncertain significance
Select item 1031461	NM_004667.6(HERC2):c.3596A>G (p.Gln1199Arg)	HERC2 (Q1199R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1031460	NM_004667.6(HERC2):c.3071T>C (p.Val1024Ala)	HERC2 (V1024A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1031459	NM_004667.6(HERC2):c.2766C>G (p.Asn922Lys)	HERC2 (N922K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 218647	NM_004667.6(HERC2):c.2747-3C>A	HERC2	Single nucleotide variant (intron variant)	Developmental delay with autism spectrum disorder and gait instability +2 more	GConflicting classifications of pathogenicity
Select item 1029879	NM_004667.6(HERC2):c.2602A>G (p.Thr868Ala)	HERC2 (T868A)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability	GUncertain significance
Select item 1028802	NM_004667.6(HERC2):c.2236C>T (p.Arg746Cys)	HERC2 (R746C)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability +1 more	GUncertain significance
Select item 520780	NM_004667.6(HERC2):c.1411C>T (p.Arg471Cys)	HERC2 (R471C)	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 2398618	NM_004667.6(HERC2):c.958G>A (p.Gly320Arg)	HERC2 (G320R)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability +1 more	GUncertain significance
Select item 986053	NM_004667.6(HERC2):c.922T>G (p.Ser308Ala)	HERC2 (S308A)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability +1 more	GUncertain significance
Select item 1031458	NM_004667.6(HERC2):c.254A>G (p.Glu85Gly)	HERC2 (E85G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1028803	NM_004667.6(HERC2):c.233A>G (p.Asp78Gly)	HERC2 (D78G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 625833	GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182)	ATP10A, CYFIP1 +26 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625832	GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182)	ATP10A, CYFIP1 +26 more	Copy number loss	Angelman syndrome	GPathogenic
Select item 625746	GRCh37/hg19 15q11.2-13.1(chr15:23810397-28525505)	ATP10A, GABRA5 +21 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625745	GRCh37/hg19 15q11.2-13.1(chr15:23810184-29213896)	APBA2, ATP10A +23 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625718	GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505)	ATP10A, GABRA5 +21 more	Copy number loss	Prader-Willi syndrome	GPathogenic
Select item 625717	GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182)	ATP10A, GABRA5 +22 more	Copy number loss	Angelman syndrome +1 more	GPathogenic
Select item 625716	GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)	ATP10A, GABRA5 +22 more	Copy number loss	Angelman syndrome +1 more	GPathogenic
Select item 625715	GRCh37/hg19 15q11.2-13.1(chr15:22770994-28517432)	ATP10A, CYFIP1 +26 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625714	GRCh37/hg19 15q11.2-13.3(chr15:22383299-32917689)	APBA2, ARHGAP11A +47 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625713	GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198)	NIPA1, NIPA2 +27 more	Copy number loss	Prader-Willi syndrome +1 more	GPathogenic
Select item 625712	GRCh37/hg19 15q11.2-13.3(chr15:22382860-32396457)	APBA2, ARHGAP11B +44 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625711	GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141)	APBA2, ARHGAP11A +50 more	Copy number loss	Prader-Willi syndrome +1 more	GPathogenic
Select item 625710	GRCh37/hg19 15q11.1-13.1(chr15:20191652-28525310)	ATP10A, CYFIP1 +32 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625709	GRCh37/hg19 15q11.1-13.2(chr15:20190548-30300265)	IPW, GABRG3 +37 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 209214	NC_000015.9:g.(?_23730704)_(28530182_?)del	PWRN2, OCA2 +21 more	Deletion	Angelman syndrome	GPathogenic

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Items: 56