ClinVar for Gene (Select 8924) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372444	NM_004667.6(HERC2):c.3725C>T (p.Ser1242Leu)	HERC2 (S1242L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372252	NM_004667.6(HERC2):c.3826G>A (p.Ala1276Thr)	HERC2 (A1276T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372035	NM_004667.6(HERC2):c.5072C>T (p.Ala1691Val)	HERC2 (A1691V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371438	NM_004667.6(HERC2):c.12601A>G (p.Lys4201Glu)	HERC2 (K4201E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370913	NM_004667.6(HERC2):c.1069G>A (p.Glu357Lys)	HERC2 (E357K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369793	NM_004667.6(HERC2):c.8062C>G (p.His2688Asp)	HERC2 (H2688D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369079	NM_004667.6(HERC2):c.10712C>T (p.Ala3571Val)	HERC2 (A3571V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368191	NM_004667.6(HERC2):c.286T>G (p.Ser96Ala)	HERC2 (S96A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367666	NM_004667.6(HERC2):c.5075T>C (p.Met1692Thr)	HERC2 (M1692T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367663	NM_004667.6(HERC2):c.8572A>T (p.Asn2858Tyr)	HERC2 (N2858Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366405	NM_004667.6(HERC2):c.2317-13C>T	HERC2, LOC129390675	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3365515	NM_004667.6(HERC2):c.10684G>A (p.Gly3562Arg)	HERC2 (G3562R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365514	NM_004667.6(HERC2):c.11227C>T (p.Leu3743Phe)	HERC2 (L3743F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365003	NM_004667.6(HERC2):c.50A>G (p.Lys17Arg)	HERC2 (K17R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364244	NM_004667.6(HERC2):c.6440T>C (p.Val2147Ala)	HERC2 (V2147A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364243	NM_004667.6(HERC2):c.11554G>C (p.Ala3852Pro)	HERC2 (A3852P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361895	NM_004667.6(HERC2):c.6584C>T (p.Ser2195Phe)	HERC2 (S2195F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361756	NM_004667.6(HERC2):c.3854C>T (p.Pro1285Leu)	HERC2 (P1285L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361755	NM_004667.6(HERC2):c.4391G>A (p.Gly1464Asp)	HERC2 (G1464D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361219	NM_004667.6(HERC2):c.1940C>T (p.Thr647Ile)	HERC2 (T647I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361172	NM_004667.6(HERC2):c.10630G>A (p.Asp3544Asn)	HERC2 (D3544N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360923	NM_004667.6(HERC2):c.9304C>T (p.Arg3102Trp)	HERC2 (R3102W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359112	NM_004667.6(HERC2):c.1451C>A (p.Pro484Gln)	HERC2 (P484Q)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability	GUncertain significance
Select item 3358737	NM_004667.6(HERC2):c.13998C>T (p.Thr4666=)	HERC2	Single nucleotide variant (synonymous variant)	HERC2-related disorder	GBenign
Select item 3358604	NM_004667.6(HERC2):c.9537T>C (p.Asp3179=)	HERC2	Single nucleotide variant (synonymous variant)	HERC2-related disorder	GLikely benign
Select item 3358350	NM_004667.6(HERC2):c.9832-8G>A	HERC2	Single nucleotide variant (intron variant)	HERC2-related disorder	GLikely benign
Select item 3353067	NM_004667.6(HERC2):c.11775T>C (p.Phe3925=)	HERC2	Single nucleotide variant (synonymous variant)	HERC2-related disorder	GLikely benign
Select item 3352561	NM_004667.6(HERC2):c.9954G>A (p.Ser3318=)	HERC2	Single nucleotide variant (synonymous variant)	HERC2-related disorder	GBenign
Select item 3351470	NM_004667.6(HERC2):c.3405A>G (p.Pro1135=)	HERC2	Single nucleotide variant (synonymous variant)	HERC2-related disorder	GLikely benign
Select item 3350758	NM_004667.6(HERC2):c.10678C>T (p.Arg3560Trp)	HERC2 (R3560W)	Single nucleotide variant (missense variant)	HERC2-related disorder	GUncertain significance
Select item 3346979	NM_004667.6(HERC2):c.11700+8A>C	HERC2	Single nucleotide variant (intron variant)	HERC2-related disorder	GLikely benign
Select item 3342807	NM_004667.6(HERC2):c.560A>G (p.Lys187Arg)	HERC2 (K187R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342547	NM_004667.6(HERC2):c.6646C>T (p.Arg2216Cys)	HERC2 (R2216C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341940	NM_004667.6(HERC2):c.7518C>T (p.Ser2506=)	HERC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3341046	NM_004667.6(HERC2):c.14459A>T (p.Asp4820Val)	HERC2 (D4820V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339223	NM_004667.6(HERC2):c.14497_*2del (p.Gly4833fs)	HERC2 (G4833fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 3284101	NM_004667.6(HERC2):c.7777A>G (p.Lys2593Glu)	HERC2 (K2593E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284100	NM_004667.6(HERC2):c.13664C>T (p.Ala4555Val)	HERC2 (A4555V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284099	NM_004667.6(HERC2):c.3842A>G (p.Gln1281Arg)	HERC2 (Q1281R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284098	NM_004667.6(HERC2):c.13375C>T (p.Leu4459Phe)	HERC2 (L4459F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284097	NM_004667.6(HERC2):c.8234A>T (p.His2745Leu)	HERC2 (H2745L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284096	NM_004667.6(HERC2):c.7910C>T (p.Ser2637Phe)	HERC2 (S2637F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284095	NM_004667.6(HERC2):c.5320G>C (p.Gly1774Arg)	HERC2 (G1774R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284094	NM_004667.6(HERC2):c.10457C>T (p.Pro3486Leu)	HERC2 (P3486L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284093	NM_004667.6(HERC2):c.8008A>C (p.Lys2670Gln)	HERC2 (K2670Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284092	NM_004667.6(HERC2):c.8993C>T (p.Ala2998Val)	HERC2 (A2998V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284091	NM_004667.6(HERC2):c.1229C>T (p.Pro410Leu)	HERC2 (P410L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284090	NM_004667.6(HERC2):c.1197T>G (p.His399Gln)	HERC2 (H399Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284089	NM_004667.6(HERC2):c.1042A>C (p.Ile348Leu)	HERC2 (I348L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284088	NM_004667.6(HERC2):c.7531A>G (p.Thr2511Ala)	HERC2 (T2511A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284087	NM_004667.6(HERC2):c.13708G>T (p.Ala4570Ser)	HERC2 (A4570S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284086	NM_004667.6(HERC2):c.4696A>G (p.Thr1566Ala)	HERC2 (T1566A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284085	NM_004667.6(HERC2):c.14473G>A (p.Asp4825Asn)	HERC2 (D4825N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284084	NM_004667.6(HERC2):c.12722G>A (p.Arg4241Gln)	HERC2 (R4241Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284083	NM_004667.6(HERC2):c.626G>A (p.Arg209His)	HERC2 (R209H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284082	NM_004667.6(HERC2):c.12628G>C (p.Val4210Leu)	HERC2 (V4210L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284081	NM_004667.6(HERC2):c.3145G>A (p.Ala1049Thr)	HERC2 (A1049T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284079	NM_004667.6(HERC2):c.12089T>C (p.Leu4030Ser)	HERC2 (L4030S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284078	NM_004667.6(HERC2):c.6586G>A (p.Glu2196Lys)	HERC2 (E2196K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284077	NM_004667.6(HERC2):c.10298C>T (p.Ser3433Leu)	HERC2 (S3433L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284076	NM_004667.6(HERC2):c.7440G>T (p.Lys2480Asn)	HERC2 (K2480N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3284075	NM_004667.6(HERC2):c.5282C>T (p.Pro1761Leu)	HERC2 (P1761L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284074	NM_004667.6(HERC2):c.6580G>A (p.Asp2194Asn)	HERC2 (D2194N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284073	NM_004667.6(HERC2):c.2524G>T (p.Ala842Ser)	HERC2 (A842S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284072	NM_004667.6(HERC2):c.11165G>A (p.Arg3722His)	HERC2 (R3722H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284070	NM_004667.6(HERC2):c.7498G>A (p.Gly2500Arg)	HERC2 (G2500R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284069	NM_004667.6(HERC2):c.6891C>A (p.His2297Gln)	HERC2 (H2297Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284068	NM_004667.6(HERC2):c.7141T>A (p.Leu2381Met)	HERC2 (L2381M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284067	NM_004667.6(HERC2):c.5997G>A (p.Met1999Ile)	HERC2 (M1999I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3284066	NM_004667.6(HERC2):c.2632G>A (p.Val878Met)	HERC2 (V878M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284065	NM_004667.6(HERC2):c.1210G>A (p.Ala404Thr)	HERC2 (A404T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284064	NM_004667.6(HERC2):c.7884A>G (p.Ile2628Met)	HERC2 (I2628M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284063	NM_004667.6(HERC2):c.14423A>C (p.Asp4808Ala)	HERC2 (D4808A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284062	NM_004667.6(HERC2):c.5441C>T (p.Thr1814Met)	HERC2 (T1814M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284061	NM_004667.6(HERC2):c.7334C>G (p.Pro2445Arg)	HERC2 (P2445R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3284060	NM_004667.6(HERC2):c.191A>G (p.Asp64Gly)	HERC2 (D64G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3257626	NM_004667.6(HERC2):c.12018G>A (p.Leu4006=)	HERC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3257061	NM_004667.6(HERC2):c.9486C>T (p.Asp3162=)	HERC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3256292	NM_004667.6(HERC2):c.8435C>T (p.Ser2812Leu)	HERC2 (S2812L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3256291	NM_004667.6(HERC2):c.12988C>T (p.Gln4330Ter)	HERC2 (Q4330*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3255162	NM_004667.6(HERC2):c.4139A>T (p.His1380Leu)	HERC2 (H1380L)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability	GUncertain significance
Select item 3254785	NM_004667.6(HERC2):c.9472T>G (p.Cys3158Gly)	HERC2 (C3158G)	Single nucleotide variant (missense variant)	Developmental delay with autism spectrum disorder and gait instability	GUncertain significance
Select item 3253550	NM_004667.6(HERC2):c.6703C>T (p.Arg2235Cys)	HERC2 (R2235C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253212	NM_004667.6(HERC2):c.1A>T (p.Met1Leu)	HERC2 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252962	NM_004667.6(HERC2):c.6365C>T (p.Thr2122Met)	HERC2 (T2122M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252615	NM_004667.6(HERC2):c.10952G>A (p.Arg3651His)	HERC2 (R3651H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252284	NM_004667.6(HERC2):c.5692C>A (p.Leu1898Met)	HERC2 (L1898M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251361	NM_004667.6(HERC2):c.3166C>A (p.Arg1056Ser)	HERC2 (R1056S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250690	NM_004667.6(HERC2):c.2088T>C (p.His696=)	HERC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250564	NM_004667.6(HERC2):c.5706A>G (p.Gly1902=)	HERC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250511	NM_004667.6(HERC2):c.5679C>A (p.Arg1893=)	HERC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250355	NC_000015.10:g.(?_22786657)_(28299516_?)dup	SNORD115-26, SNORD115-27 +162 more	Duplication	15q11q13 microduplication syndrome	GLikely pathogenic
Select item 3239520	NM_004667.6(HERC2):c.11752C>T (p.Leu3918=)	HERC2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3239308	NM_004667.6(HERC2):c.4138C>A (p.His1380Asn)	HERC2 (H1380N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239307	NM_004667.6(HERC2):c.12565A>G (p.Met4189Val)	HERC2 (M4189V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239282	NM_004667.6(HERC2):c.3081G>T (p.Leu1027Phe)	HERC2 (L1027F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239152	NM_004667.6(HERC2):c.4470G>A (p.Ser1490=)	HERC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3239045	NM_004667.6(HERC2):c.12360C>T (p.Tyr4120=)	HERC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234632	NM_004667.6(HERC2):c.1219T>C (p.Cys407Arg)	HERC2 (C407R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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