Related gene-specific medical variations for Gene (Select 71) - ClinVar

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Items: 40

	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 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 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 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 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 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 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 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 2663556	NM_001614.5(ACTG1):c.32A>G (p.Asp11Gly)	ACTG1, LOC130061940 (D11G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2632597	NM_001614.5(ACTG1):c.85G>A (p.Ala29Thr)	ACTG1, LOC130061940 (A29T)	Single nucleotide variant (missense variant +1 more)	ACTG1-related disorder	GUncertain significance
Select item 2438842	NM_001614.5(ACTG1):c.786C>G (p.Phe262Leu)	ACTG1 (F262L)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GUncertain significance
Select item 2404517	NM_001614.5(ACTG1):c.91T>G (p.Phe31Val)	ACTG1, LOC130061940 (F31V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228543	NM_001614.5(ACTG1):c.86C>T (p.Ala29Val)	ACTG1, LOC130061940 (A29V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1710351	NM_001614.5(ACTG1):c.58_62delinsAACCAA (p.Gly20fs)	ACTG1, LOC130061940 (G20fs)	Indel (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1690354	NM_001614.5(ACTG1):c.230C>G (p.Thr77Ser)	ACTG1 (T77S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1632497	NM_001614.5(ACTG1):c.87C>T (p.Ala29=)	ACTG1, LOC130061940	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 1306975	NM_001614.5(ACTG1):c.77C>T (p.Ala26Val)	ACTG1, LOC130061940 (A26V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1271209	NM_001614.5(ACTG1):c.-7+151G>C	ACTG1, LOC130061941	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233124	NM_001614.5(ACTG1):c.-7+36G>A	ACTG1, LOC130061941	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1188305	NM_001614.5(ACTG1):c.-7+37C>T	ACTG1, LOC130061941	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 993778	NM_001614.5(ACTG1):c.492C>T (p.Pro164=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 985561	NM_001614.5(ACTG1):c.50G>A (p.Cys17Tyr)	ACTG1, LOC130061940 (C17Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 929868	NM_001614.5(ACTG1):c.45C>T (p.Gly15=)	ACTG1, LOC130061940	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 871523	NM_001614.5(ACTG1):c.354G>T (p.Lys118Asn)	ACTG1 (K118N)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 807364	NM_001614.5(ACTG1):c.94C>T (p.Pro32Ser)	ACTG1, LOC130061940 (P32S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 725968	NM_001614.5(ACTG1):c.22C>T (p.Leu8=)	LOC130061940, ACTG1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 705081	NM_001614.5(ACTG1):c.66T>G (p.Ala22=)	ACTG1, LOC130061940	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +2 more	GBenign/Likely benign
Select item 521162	NM_001614.5(ACTG1):c.67G>A (p.Gly23Arg)	ACTG1, LOC130061940 (G23R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 516171	NM_001614.5(ACTG1):c.-7+135C>T	ACTG1, LOC130061941	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 432553	NM_001614.5(ACTG1):c.95C>T (p.Pro32Leu)	ACTG1, LOC130061940 (P32L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 385516	NM_001614.5(ACTG1):c.39C>T (p.Gly13=)	ACTG1, LOC130061940	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 382898	NM_001614.5(ACTG1):c.105C>T (p.Val35=)	LOC130061940, ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +2 more	GBenign/Likely benign
Select item 372937	NM_001614.5(ACTG1):c.43G>C (p.Gly15Arg)	ACTG1, LOC130061940 (G15R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 227169	NM_001614.5(ACTG1):c.72C>T (p.Asp24=)	ACTG1, LOC130061940	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +3 more	GBenign/Likely benign
Select item 227168	NM_001614.5(ACTG1):c.51C>T (p.Cys17=)	ACTG1, LOC130061940	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +2 more	GBenign/Likely benign
Select item 210095	NM_001614.5(ACTG1):c.81C>T (p.Pro27=)	ACTG1, LOC130061940	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 68787	NM_001614.5(ACTG1):c.364A>G (p.Ile122Val)	ACTG1 (I122V)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided

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Links from Gene

Items: 40