ClinVar for Gene (Select 71) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 603

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376428	NM_001614.5(ACTG1):c.110G>A (p.Arg37His)	ACTG1, LOC130061940 (R37H)	Single nucleotide variant (missense variant +1 more)	Baraitser-winter syndrome 2	GUncertain significance
Select item 3375891	NM_001614.5(ACTG1):c.843dup (p.Ile282fs)	ACTG1 (I282fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3373072	NM_001614.5(ACTG1):c.-2C>G	ACTG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3370628	NM_001614.5(ACTG1):c.871A>G (p.Lys291Glu)	ACTG1 (K291E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370288	NM_001614.5(ACTG1):c.349G>A (p.Glu117Lys)	ACTG1 (E117K)	Single nucleotide variant (missense variant +1 more)	Baraitser-winter syndrome 2	GUncertain significance
Select item 3369696	NM_001614.5(ACTG1):c.541G>T (p.Ala181Ser)	ACTG1 (A181S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366408	NM_001614.5(ACTG1):c.124-19G>A	ACTG1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3365356	NM_001614.5(ACTG1):c.807G>T (p.Met269Ile)	ACTG1 (M269I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365063	NM_001614.5(ACTG1):c.249G>A (p.Glu83=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3363734	NM_001614.5(ACTG1):c.790C>T (p.Pro264Ser)	ACTG1 (P264S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361436	NM_001614.5(ACTG1):c.149A>G (p.Lys50Arg)	ACTG1 (K50R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359682	NM_001614.5(ACTG1):c.82C>G (p.Arg28Gly)	ACTG1 (R28G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3358239	NM_001614.5(ACTG1):c.586C>T (p.Arg196Ter)	ACTG1 (R196*)	Single nucleotide variant (nonsense +1 more)	ACTG1-related disorder	GUncertain significance
Select item 3353485	NM_001614.5(ACTG1):c.65C>T (p.Ala22Val)	ACTG1, LOC130061940 (A22V)	Single nucleotide variant (missense variant +1 more)	ACTG1-related disorder	GUncertain significance
Select item 3352990	NM_001614.5(ACTG1):c.33C>T (p.Asp11=)	ACTG1, LOC130061940	Single nucleotide variant (synonymous variant +1 more)	ACTG1-related disorder	GLikely benign
Select item 3348450	NM_001614.5(ACTG1):c.13A>G (p.Ile5Val)	ACTG1 (I5V)	Single nucleotide variant (missense variant +1 more)	ACTG1-related disorder	GUncertain significance
Select item 3343481	NM_001614.5(ACTG1):c.134_142dup (p.Met47_Gly48insValGlyMet)	ACTG1	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 3342805	NM_001614.5(ACTG1):c.495C>A (p.Ile165=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3263755	NM_001614.5(ACTG1):c.667T>C (p.Phe223Leu)	ACTG1 (F223L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3257807	NM_001614.5(ACTG1):c.206A>C (p.Tyr69Ser)	ACTG1 (Y69S)	Single nucleotide variant (missense variant +1 more)	Neoplasm	OUncertain significance
Select item 3253199	NM_001614.5(ACTG1):c.577C>T (p.Leu193Phe)	ACTG1 (L193F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3253091	NM_001614.5(ACTG1):c.733G>A (p.Gly245Ser)	ACTG1 (G245S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3248637	NM_001614.5(ACTG1):c.946G>A (p.Glu316Lys)	ACTG1 (E316K)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20	GUncertain significance
Select item 3243134	NC_000017.10:g.(?_79477716)_(80901020_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 3243101	NC_000017.10:g.(?_79477716)_(79479380_?)dup	ACTG1	Duplication	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GUncertain significance
Select item 3238813	NM_001614.5(ACTG1):c.95C>A (p.Pro32His)	ACTG1, LOC130061940 (P32H)	Single nucleotide variant (missense variant +1 more)	Baraitser-winter syndrome 2	GLikely pathogenic
Select item 3235183	NM_001614.5(ACTG1):c.392C>A (p.Ala131Asp)	ACTG1 (A131D)	Single nucleotide variant (missense variant +1 more)	Baraitser-winter syndrome 2	GUncertain significance
Select item 3233536	NM_001614.5(ACTG1):c.124-7C>T	ACTG1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3063761	NM_001614.5(ACTG1):c.270C>A (p.Phe90Leu)	ACTG1 (F90L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3063615	NM_001614.5(ACTG1):c.363+12_363+13delinsAA	ACTG1	Indel (intron variant)	not specified	GLikely benign
Select item 3059636	NM_001614.5(ACTG1):c.985-8C>T	ACTG1	Single nucleotide variant (intron variant)	ACTG1-related disorder	GLikely benign
Select item 3053075	NM_001614.5(ACTG1):c.802+7G>A	ACTG1	Single nucleotide variant (intron variant)	ACTG1-related disorder	GLikely benign
Select item 3052787	NM_001614.5(ACTG1):c.1119A>G (p.Lys373=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	ACTG1-related disorder	GLikely benign
Select item 3048291	NM_001614.5(ACTG1):c.630C>T (p.Arg210=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	ACTG1-related disorder	GLikely benign
Select item 3041211	NM_001614.5(ACTG1):c.366T>C (p.Ile122=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	ACTG1-related disorder	GLikely benign
Select item 3029280	NM_001614.5(ACTG1):c.615G>A (p.Glu205=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	ACTG1-related disorder	GLikely benign
Select item 3029257	NM_001614.5(ACTG1):c.948G>C (p.Glu316Asp)	ACTG1 (E316D)	Single nucleotide variant (missense variant +1 more)	ACTG1-related disorder	GUncertain significance
Select item 3029092	NM_001614.5(ACTG1):c.123+8G>C	ACTG1	Single nucleotide variant (intron variant)	ACTG1-related disorder	GLikely benign
Select item 2953695	NM_001614.5(ACTG1):c.235T>C (p.Trp79Arg)	ACTG1 (W79R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2953385	NM_001614.5(ACTG1):c.198C>T (p.Thr66=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2953203	NM_001614.5(ACTG1):c.724C>T (p.Leu242=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2952661	NM_001614.5(ACTG1):c.837C>T (p.Phe279=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2952435	NM_001614.5(ACTG1):c.82C>T (p.Arg28Ter)	ACTG1, LOC130061940 (R28*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GUncertain significance
Select item 2951653	NM_001614.5(ACTG1):c.714_716del (p.Lys238_Ser239delinsAsn)	ACTG1	Deletion (inframe_indel +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely pathogenic
Select item 2951032	NM_001614.5(ACTG1):c.771T>C (p.Cys257=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2950531	NM_001614.5(ACTG1):c.645G>A (p.Lys215=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2949641	NM_001614.5(ACTG1):c.363+19C>T	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2949562	NM_001614.5(ACTG1):c.983A>G (p.Lys328Arg)	ACTG1 (K328R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GConflicting classifications of pathogenicity
Select item 2949475	NM_001614.5(ACTG1):c.985-10G>C	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2949473	NM_001614.5(ACTG1):c.313C>T (p.Leu105=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2949265	NM_001614.5(ACTG1):c.311T>A (p.Leu104Gln)	ACTG1 (L104Q)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GUncertain significance
Select item 2949149	NM_001614.5(ACTG1):c.42C>T (p.Ser14=)	ACTG1, LOC130061940	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2949142	NM_001614.5(ACTG1):c.252G>A (p.Lys84=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2948958	NM_001614.5(ACTG1):c.5A>T (p.Glu2Val)	ACTG1 (E2V)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GUncertain significance
Select item 2948472	NM_001614.5(ACTG1):c.1104C>G (p.Ser368=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2948430	NM_001614.5(ACTG1):c.780G>C (p.Ala260=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2948250	NM_001614.5(ACTG1):c.363+7C>T	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2947949	NM_001614.5(ACTG1):c.269T>C (p.Phe90Ser)	ACTG1 (F90S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GUncertain significance
Select item 2947737	NM_001614.5(ACTG1):c.124-9C>A	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2946176	NM_001614.5(ACTG1):c.1041C>G (p.Ala347=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2945659	NM_001614.5(ACTG1):c.346dup (p.Arg116fs)	ACTG1 (R116fs)	Duplication (frameshift variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GUncertain significance
Select item 2945380	NM_001614.5(ACTG1):c.912C>T (p.Thr304=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2945004	NM_001614.5(ACTG1):c.423C>T (p.Ser141=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2944175	NM_001614.5(ACTG1):c.1097G>A (p.Gly366Asp)	ACTG1 (G366D)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GUncertain significance
Select item 2941209	NM_001614.5(ACTG1):c.823C>T (p.His275Tyr)	ACTG1 (H275Y)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GUncertain significance
Select item 2940767	NM_001614.5(ACTG1):c.1121G>A (p.Cys374Tyr)	ACTG1 (C374Y)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GUncertain significance
Select item 2940637	NM_001614.5(ACTG1):c.450C>T (p.Gly150=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2940466	NM_001614.5(ACTG1):c.199C>T (p.Leu67=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2940279	NM_001614.5(ACTG1):c.1017G>A (p.Val339=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2938343	NM_001614.5(ACTG1):c.324C>G (p.Ala108=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2938342	NM_001614.5(ACTG1):c.558C>A (p.Thr186=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2938137	NM_001614.5(ACTG1):c.799C>T (p.Leu267=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2936879	NM_001614.5(ACTG1):c.458T>C (p.Met153Thr)	ACTG1 (M153T)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GUncertain significance
Select item 2936848	NM_001614.5(ACTG1):c.803-4C>G	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2935847	NM_001614.5(ACTG1):c.513C>A (p.Leu171=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2935700	NM_001614.5(ACTG1):c.804T>C (p.Gly268=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2935688	NM_001614.5(ACTG1):c.474G>T (p.Gly158=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2935687	NM_001614.5(ACTG1):c.507C>T (p.Tyr169=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2935443	NM_001614.5(ACTG1):c.600C>T (p.Phe200=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2934881	NM_001614.5(ACTG1):c.124-6dup	ACTG1	Duplication (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GBenign
Select item 2934302	NM_001614.5(ACTG1):c.342C>T (p.Ala114=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2933874	NM_001614.5(ACTG1):c.958C>T (p.Leu320=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2933814	NM_001614.5(ACTG1):c.984+17G>C	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2933638	NM_001614.5(ACTG1):c.363+16C>T	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2933027	NM_001614.5(ACTG1):c.985-5T>G	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2932786	NM_001614.5(ACTG1):c.819C>T (p.Gly273=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2932013	NM_001614.5(ACTG1):c.802+15C>T	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2931997	NM_001614.5(ACTG1):c.36T>C (p.Asn12=)	LOC130061940, ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2931946	NM_001614.5(ACTG1):c.364-19G>A	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2931781	NM_001614.5(ACTG1):c.706C>T (p.Leu236=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2929784	NM_001614.5(ACTG1):c.537C>T (p.Asp179=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2929783	NM_001614.5(ACTG1):c.792T>C (p.Pro264=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2929634	NM_001614.5(ACTG1):c.984+19G>A	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2929324	NM_001614.5(ACTG1):c.526C>T (p.Leu176=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2928283	NM_001614.5(ACTG1):c.693A>T (p.Ala231=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2927826	NM_001614.5(ACTG1):c.123+7G>A	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2927293	NM_001614.5(ACTG1):c.1077G>A (p.Lys359=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2927291	NM_001614.5(ACTG1):c.364-17C>G	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2925875	NM_001614.5(ACTG1):c.864C>T (p.Asp288=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2924802	NM_001614.5(ACTG1):c.698C>T (p.Ser233Phe)	ACTG1 (S233F)	Single nucleotide variant (missense variant +1 more)	Baraitser-winter syndrome 2 +1 more	GUncertain significance

<< First< Prev

Page of 7