"Eurofins Ntd Llc (ga)"[submitter] AND "ACTG1"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 596370	NM_001614.5(ACTG1):c.1095G>A (p.Ser365=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +2 more	GConflicting classifications of pathogenicity
Select item 288524	NM_001614.5(ACTG1):c.1017G>C (p.Val339=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 285535	NM_001614.5(ACTG1):c.985-5T>C	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +3 more	GBenign/Likely benign
Select item 289432	NM_001614.5(ACTG1):c.825C>T (p.His275=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 287889	NM_001614.5(ACTG1):c.803-6C>T	ACTG1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 594727	NM_001614.5(ACTG1):c.802+3A>G	ACTG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 128272	NM_001614.5(ACTG1):c.729C>T (p.Pro243=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +3 more	GBenign
Select item 281455	NM_001614.5(ACTG1):c.693A>G (p.Ala231=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +3 more	GBenign
Select item 197198	NM_001614.5(ACTG1):c.542C>T (p.Ala181Val)	ACTG1 (A181V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +2 more	GConflicting classifications of pathogenicity
Select item 128270	NM_001614.5(ACTG1):c.399C>T (p.Tyr133=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +3 more	GBenign
Select item 44147	NM_001614.5(ACTG1):c.363+13C>A	ACTG1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 499511	NM_001614.5(ACTG1):c.363+7C>G	ACTG1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 285803	NM_001614.5(ACTG1):c.323C>T (p.Ala108Val)	ACTG1 (A108V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 281581	NM_001614.5(ACTG1):c.231C>T (p.Thr77=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 501243	NM_001614.5(ACTG1):c.228C>T (p.Val76=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +3 more	GConflicting classifications of pathogenicity
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 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