"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 228430	NM_001614.5(ACTG1):c.*11C>T	ACTG1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
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 162709	NM_001614.5(ACTG1):c.1110C>A (p.Val370=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +2 more	GLikely benign
Select item 162710	NM_001614.5(ACTG1):c.1051A>C (p.Thr351Pro)	ACTG1 (T351P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 667062	NM_001614.5(ACTG1):c.1041C>T (p.Ala347=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 228431	NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val)	ACTG1 (L346V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 667399	NM_001614.5(ACTG1):c.1002G>C (p.Glu334Asp)	ACTG1 (E334D)	Single nucleotide variant (missense variant +1 more)	Rare genetic deafness	GLikely pathogenic
Select item 162711	NM_001614.5(ACTG1):c.996C>A (p.Pro332=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +3 more	GLikely benign
Select item 439366	NM_001614.5(ACTG1):c.985-5dup	ACTG1	Duplication (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 227173	NM_001614.5(ACTG1):c.957C>T (p.Ala319=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely 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 162712	NM_001614.5(ACTG1):c.945G>A (p.Lys315=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely 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)	not specified +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 162714	NM_001614.5(ACTG1):c.853T>C (p.Cys285Arg)	ACTG1 (C285R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 179344	NM_001614.5(ACTG1):c.828G>A (p.Glu276=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 289432	NM_001614.5(ACTG1):c.825C>T (p.His275=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not provided +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 505843	NM_001614.5(ACTG1):c.803-7C>T	ACTG1	Single nucleotide variant (intron variant)	Baraitser-winter syndrome 2 +2 more	GLikely benign
Select item 227171	NM_001614.5(ACTG1):c.803-13C>T	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +2 more	GLikely 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 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 18322	NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys)	ACTG1 (E241K)	Single nucleotide variant (missense variant +1 more)	Rare genetic deafness +3 more	GLikely pathogenic
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 505410	NM_001614.5(ACTG1):c.696C>T (p.Ser232=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely 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 provided +3 more	GBenign/Likely benign
Select item 929867	NM_001614.5(ACTG1):c.669C>T (p.Phe223=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 434076	NM_001614.5(ACTG1):c.654C>T (p.Tyr218=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 505002	NM_001614.5(ACTG1):c.642G>A (p.Glu214=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 162715	NM_001614.5(ACTG1):c.636C>A (p.Ile212=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 517300	NM_001614.5(ACTG1):c.617G>A (p.Arg206Gln)	ACTG1 (R206Q)	Single nucleotide variant (missense variant +1 more)	Baraitser-winter syndrome 2 +2 more	GLikely pathogenic
Select item 162716	NM_001614.5(ACTG1):c.576C>T (p.Ile192=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +3 more	GLikely benign
Select item 379380	NM_001614.5(ACTG1):c.558C>T (p.Thr186=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 505063	NM_001614.5(ACTG1):c.548G>A (p.Arg183Gln)	ACTG1 (R183Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 179428	NM_001614.5(ACTG1):c.521C>G (p.Ala174Gly)	ACTG1 (A174G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 162717	NM_001614.5(ACTG1):c.498C>T (p.Tyr166=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +3 more	GLikely benign
Select item 44148	NM_001614.5(ACTG1):c.471C>T (p.Asp157=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +3 more	GBenign/Likely benign
Select item 162718	NM_001614.5(ACTG1):c.432C>T (p.Ala144=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +2 more	GLikely benign
Select item 128271	NM_001614.5(ACTG1):c.414C>T (p.Ala138=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +3 more	GBenign/Likely benign
Select item 228433	NM_001614.5(ACTG1):c.409C>G (p.Gln137Glu)	ACTG1 (Q137E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 505320	NM_001614.5(ACTG1):c.405C>T (p.Ala135=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely 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 227167	NM_001614.5(ACTG1):c.390G>A (p.Pro130=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 228432	NM_001614.5(ACTG1):c.377C>T (p.Thr126Ile)	ACTG1 (T126I)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 180117	NM_001614.5(ACTG1):c.364-8C>T	ACTG1	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 44147	NM_001614.5(ACTG1):c.363+13C>A	ACTG1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
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 162719	NM_001614.5(ACTG1):c.333C>T (p.Asn111=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely 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 227166	NM_001614.5(ACTG1):c.267C>T (p.Thr89=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 162721	NM_001614.5(ACTG1):c.255C>T (p.Ile85=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +2 more	GLikely 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 505903	NM_001614.5(ACTG1):c.168C>T (p.Asp56=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +3 more	GLikely benign
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 505182	NM_001614.5(ACTG1):c.150G>A (p.Lys50=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely 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 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 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 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 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 505118	NM_001614.5(ACTG1):c.-1A>G	ACTG1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 226457	NM_001614.5(ACTG1):c.-6-3C>T	ACTG1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign

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Items: 74