"Genome-Nilou Lab"[submitter] AND "ACTG1"[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128269	NM_001614.5(ACTG1):c.1128A>G (p.Ter376=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +3 more	GBenign
Select item 561777	NM_001614.5(ACTG1):c.1113C>T (p.His371=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +3 more	GBenign
Select item 516556	NM_001614.5(ACTG1):c.1029C>T (p.Gly343=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +3 more	GBenign/Likely benign
Select item 128268	NM_001614.5(ACTG1):c.1026T>C (p.Gly342=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +3 more	GBenign
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 128267	NM_001614.5(ACTG1):c.1014G>A (p.Ser338=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +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 561394	NM_001614.5(ACTG1):c.985-40del	ACTG1	Deletion (intron variant)	not provided +2 more	GBenign
Select item 706492	NM_001614.5(ACTG1):c.978G>A (p.Lys326=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 227172	NM_001614.5(ACTG1):c.954C>T (p.Thr318=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +3 more	GBenign/Likely benign
Select item 44151	NM_001614.5(ACTG1):c.930C>T (p.Ala310=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 44150	NM_001614.5(ACTG1):c.918C>T (p.Tyr306=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +3 more	GBenign
Select item 162713	NM_001614.5(ACTG1):c.909C>T (p.Thr303=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +3 more	GBenign/Likely benign
Select item 703864	NM_001614.5(ACTG1):c.877C>T (p.Leu293=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 730467	NM_001614.5(ACTG1):c.861G>A (p.Val287=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +2 more	GBenign/Likely benign
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 516172	NM_001614.5(ACTG1):c.780G>A (p.Ala260=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +3 more	GBenign/Likely benign
Select item 227170	NM_001614.5(ACTG1):c.774G>A (p.Pro258=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +3 more	GBenign/Likely benign
Select item 382912	NM_001614.5(ACTG1):c.735C>T (p.Gly245=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +2 more	GBenign
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 210094	NM_001614.5(ACTG1):c.714G>A (p.Lys238=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
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 178286	NM_001614.5(ACTG1):c.684C>T (p.Ala228=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1232484	NM_001614.5(ACTG1):c.564C>T (p.Tyr188=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +2 more	GBenign/Likely benign
Select item 379380	NM_001614.5(ACTG1):c.558C>T (p.Thr186=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 178287	NM_001614.5(ACTG1):c.546C>T (p.Gly182=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +3 more	GBenign/Likely benign
Select item 44149	NM_001614.5(ACTG1):c.531T>C (p.Arg177=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +3 more	GBenign/Likely benign
Select item 379385	NM_001614.5(ACTG1):c.486G>A (p.Thr162=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +2 more	GBenign/Likely benign
Select item 44148	NM_001614.5(ACTG1):c.471C>T (p.Asp157=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +3 more	GBenign/Likely benign
Select item 128271	NM_001614.5(ACTG1):c.414C>T (p.Ala138=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +3 more	GBenign/Likely benign
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 387954	NM_001614.5(ACTG1):c.364-10C>T	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +2 more	GBenign/Likely benign
Select item 561392	NM_001614.5(ACTG1):c.363+58G>A	ACTG1	Single nucleotide variant (intron variant)	not provided +2 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 704149	NM_001614.5(ACTG1):c.363+5G>A	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +2 more	GBenign/Likely benign
Select item 505261	NM_001614.5(ACTG1):c.345C>T (p.Asn115=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +3 more	GBenign/Likely benign
Select item 162720	NM_001614.5(ACTG1):c.315G>A (p.Leu105=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 44146	NM_001614.5(ACTG1):c.177G>A (p.Gln59=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +3 more	GBenign
Select item 516222	NM_001614.5(ACTG1):c.165C>T (p.Gly55=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 178288	NM_001614.5(ACTG1):c.159C>T (p.Tyr53=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 379424	NM_001614.5(ACTG1):c.126C>T (p.Gly42=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +3 more	GBenign/Likely benign
Select item 226456	NM_001614.5(ACTG1):c.124-8C>T	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +3 more	GBenign
Select item 162722	NM_001614.5(ACTG1):c.124-14G>A	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +3 more	GBenign
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 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 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 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 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 227165	NM_001614.5(ACTG1):c.18C>T (p.Ala6=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +3 more	GBenign/Likely benign
Select item 561846	NM_001614.5(ACTG1):c.15C>A (p.Ile5=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +2 more	GBenign
Select item 210092	NM_001614.5(ACTG1):c.15C>T (p.Ile5=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +2 more	GBenign/Likely benign
Select item 226457	NM_001614.5(ACTG1):c.-6-3C>T	ACTG1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1188997	NM_001614.5(ACTG1):c.-6-83T>G	ACTG1	Single nucleotide variant (intron variant)	Baraitser-winter syndrome 2 +2 more	GBenign

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Items: 54