C3281235[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 18317	NM_001614.5(ACTG1):c.994C>G (p.Pro332Ala)	ACTG1 (P332A)	Single nucleotide variant (missense variant +1 more)	Baraitser-winter syndrome 2 +1 more	GPathogenic
Select item 18319	NM_001614.5(ACTG1):c.833C>T (p.Thr278Ile)	ACTG1 (T278I)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GPathogenic
Select item 29590	NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp)	ACTG1 (R256W)	Single nucleotide variant (missense variant +1 more)	Baraitser-winter syndrome 2	GPathogenic
Select item 29589	NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp)	ACTG1 (R254W)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +2 more	GPathogenic/Likely pathogenic
Select item 29588	NM_001614.5(ACTG1):c.608C>A (p.Thr203Lys)	ACTG1 (T203K)	Single nucleotide variant (missense variant +1 more)	Baraitser-winter syndrome 2	GPathogenic
Select item 29585	NM_001614.5(ACTG1):c.464C>T (p.Ser155Phe)	ACTG1 (S155F)	Single nucleotide variant (non-coding transcript variant +1 more)	Baraitser-winter syndrome 2 +2 more	GPathogenic
Select item 29587	NM_001614.5(ACTG1):c.404C>T (p.Ala135Val)	ACTG1 (A135V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +2 more	GPathogenic/Likely pathogenic
Select item 29586	NM_001614.5(ACTG1):c.359C>T (p.Thr120Ile)	ACTG1 (T120I)	Single nucleotide variant (missense variant +1 more)	Baraitser-winter syndrome 2 +1 more	GPathogenic/Likely pathogenic