ClinVar for MedGen (Select 482865) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2953695	NM_001614.5(ACTG1):c.235T>C (p.Trp79Arg)	ACTG1 (W79R)	Single nucleotide variant (missense variant +1 more)	Baraitser-winter syndrome 2 +1 more	GUncertain significance
Select item 2953385	NM_001614.5(ACTG1):c.198C>T (p.Thr66=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2953203	NM_001614.5(ACTG1):c.724C>T (p.Leu242=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2952661	NM_001614.5(ACTG1):c.837C>T (p.Phe279=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +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)	Baraitser-winter syndrome 2 +1 more	GUncertain significance
Select item 2951653	NM_001614.5(ACTG1):c.714_716del (p.Lys238_Ser239delinsAsn)	ACTG1	Deletion (inframe_indel +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely pathogenic
Select item 2951032	NM_001614.5(ACTG1):c.771T>C (p.Cys257=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2950531	NM_001614.5(ACTG1):c.645G>A (p.Lys215=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2949641	NM_001614.5(ACTG1):c.363+19C>T	ACTG1	Single nucleotide variant (intron variant)	Baraitser-winter syndrome 2 +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)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2949473	NM_001614.5(ACTG1):c.313C>T (p.Leu105=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +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)	Baraitser-winter syndrome 2 +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)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2949142	NM_001614.5(ACTG1):c.252G>A (p.Lys84=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2948958	NM_001614.5(ACTG1):c.5A>T (p.Glu2Val)	ACTG1 (E2V)	Single nucleotide variant (missense variant +1 more)	Baraitser-winter syndrome 2 +1 more	GUncertain significance
Select item 2948472	NM_001614.5(ACTG1):c.1104C>G (p.Ser368=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2948430	NM_001614.5(ACTG1):c.780G>C (p.Ala260=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2948250	NM_001614.5(ACTG1):c.363+7C>T	ACTG1	Single nucleotide variant (intron variant)	Baraitser-winter syndrome 2 +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)	Baraitser-winter syndrome 2 +1 more	GUncertain significance
Select item 2947737	NM_001614.5(ACTG1):c.124-9C>A	ACTG1	Single nucleotide variant (intron variant)	Baraitser-winter syndrome 2 +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)	Baraitser-winter syndrome 2 +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)	Baraitser-winter syndrome 2 +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)	Baraitser-winter syndrome 2 +1 more	GUncertain significance
Select item 2940637	NM_001614.5(ACTG1):c.450C>T (p.Gly150=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2940466	NM_001614.5(ACTG1):c.199C>T (p.Leu67=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2940279	NM_001614.5(ACTG1):c.1017G>A (p.Val339=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +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)	Baraitser-winter syndrome 2 +1 more	GUncertain significance
Select item 2936848	NM_001614.5(ACTG1):c.803-4C>G	ACTG1	Single nucleotide variant (intron variant)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2935847	NM_001614.5(ACTG1):c.513C>A (p.Leu171=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2935700	NM_001614.5(ACTG1):c.804T>C (p.Gly268=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2935688	NM_001614.5(ACTG1):c.474G>T (p.Gly158=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2935687	NM_001614.5(ACTG1):c.507C>T (p.Tyr169=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +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)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2932786	NM_001614.5(ACTG1):c.819C>T (p.Gly273=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2932013	NM_001614.5(ACTG1):c.802+15C>T	ACTG1	Single nucleotide variant (intron variant)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2931997	NM_001614.5(ACTG1):c.36T>C (p.Asn12=)	ACTG1, LOC130061940	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2931946	NM_001614.5(ACTG1):c.364-19G>A	ACTG1	Single nucleotide variant (intron variant)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2931781	NM_001614.5(ACTG1):c.706C>T (p.Leu236=)	ACTG1	Single nucleotide variant (non-coding transcript variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2929784	NM_001614.5(ACTG1):c.537C>T (p.Asp179=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2929783	NM_001614.5(ACTG1):c.792T>C (p.Pro264=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +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)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2928283	NM_001614.5(ACTG1):c.693A>T (p.Ala231=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2927826	NM_001614.5(ACTG1):c.123+7G>A	ACTG1	Single nucleotide variant (intron variant)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2927293	NM_001614.5(ACTG1):c.1077G>A (p.Lys359=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2927291	NM_001614.5(ACTG1):c.364-17C>G	ACTG1	Single nucleotide variant (intron variant)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2925875	NM_001614.5(ACTG1):c.864C>T (p.Asp288=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +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
Select item 2924329	NM_001614.5(ACTG1):c.525C>T (p.Ile175=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2923944	NM_001614.5(ACTG1):c.375G>A (p.Glu125=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2923928	NM_001614.5(ACTG1):c.364-17C>T	ACTG1	Single nucleotide variant (intron variant)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2923906	NM_001614.5(ACTG1):c.123+5G>C	ACTG1	Single nucleotide variant (intron variant)	Baraitser-winter syndrome 2 +1 more	GUncertain significance
Select item 2923069	NM_001614.5(ACTG1):c.984+13G>C	ACTG1	Single nucleotide variant (intron variant)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2922908	NM_001614.5(ACTG1):c.279G>A (p.Glu93=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2922842	NM_001614.5(ACTG1):c.364-19G>C	ACTG1	Single nucleotide variant (intron variant)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2922804	NM_001614.5(ACTG1):c.834C>T (p.Thr278=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2921993	NM_001614.5(ACTG1):c.984+13G>A	ACTG1	Single nucleotide variant (intron variant)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2648457	NM_001614.5(ACTG1):c.1089C>T (p.Asp363=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +2 more	GLikely benign
Select item 2581800	NM_001614.5(ACTG1):c.932A>T (p.Asp311Val)	ACTG1 (D311V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2444245	NM_001614.5(ACTG1):c.151G>A (p.Asp51Asn)	ACTG1 (D51N)	Single nucleotide variant (missense variant +1 more)	Baraitser-winter syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 2420987	NM_001614.5(ACTG1):c.553C>T (p.Leu185=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2417662	NM_001614.5(ACTG1):c.933C>T (p.Asp311=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2196600	NM_001614.5(ACTG1):c.689C>A (p.Ala230Asp)	ACTG1 (A230D)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GUncertain significance
Select item 2196477	NM_001614.5(ACTG1):c.364-15C>G	ACTG1	Single nucleotide variant (intron variant)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2194766	NM_001614.5(ACTG1):c.123+15C>T	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2194092	NM_001614.5(ACTG1):c.658G>A (p.Ala220Thr)	ACTG1 (A220T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2181191	NM_001614.5(ACTG1):c.378C>G (p.Thr126=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2177437	NM_001614.5(ACTG1):c.906C>T (p.Gly302=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2166841	NM_001614.5(ACTG1):c.984+12G>A	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2164665	NM_001614.5(ACTG1):c.219T>C (p.His73=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2152294	NM_001614.5(ACTG1):c.434C>G (p.Ser145Cys)	ACTG1 (S145C)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GUncertain significance
Select item 2149599	NM_001614.5(ACTG1):c.753C>T (p.Gly251=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GUncertain significance
Select item 2147121	NM_001614.5(ACTG1):c.9A>G (p.Glu3=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2145794	NM_001614.5(ACTG1):c.339G>A (p.Lys113=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2121662	NM_001614.5(ACTG1):c.376A>G (p.Thr126Ala)	ACTG1 (T126A)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GUncertain significance
Select item 2098829	NM_001614.5(ACTG1):c.817G>A (p.Gly273Ser)	ACTG1 (G273S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GUncertain significance
Select item 2097785	NM_001614.5(ACTG1):c.943A>G (p.Lys315Glu)	ACTG1 (K315E)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GUncertain significance
Select item 2090977	NM_001614.5(ACTG1):c.984+7C>G	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2090641	NM_001614.5(ACTG1):c.489G>C (p.Val163=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2089197	NM_001614.5(ACTG1):c.364-15C>T	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2087147	NM_001614.5(ACTG1):c.124-6C>T	ACTG1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2083878	NM_001614.5(ACTG1):c.747C>T (p.Thr249=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2075440	NM_001614.5(ACTG1):c.660C>T (p.Ala220=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2073525	NM_001614.5(ACTG1):c.240C>T (p.Asp80=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2073436	NM_001614.5(ACTG1):c.985-25_985-10dup	ACTG1	Duplication (intron variant)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2072536	NM_001614.5(ACTG1):c.990C>T (p.Ile330=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign

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