"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128268	NM_001614.5(ACTG1):c.1026T>C (p.Gly342=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +3 more	GBenign
Select item 128267	NM_001614.5(ACTG1):c.1014G>A (p.Ser338=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 561396	NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys)	ACTG1 (R335C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 44151	NM_001614.5(ACTG1):c.930C>T (p.Ala310=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +2 more	GBenign
Select item 1299965	NM_001614.5(ACTG1):c.920C>T (p.Pro307Leu)	ACTG1 (P307L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 44150	NM_001614.5(ACTG1):c.918C>T (p.Tyr306=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +3 more	GBenign
Select item 128272	NM_001614.5(ACTG1):c.729C>T (p.Pro243=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 128270	NM_001614.5(ACTG1):c.399C>T (p.Tyr133=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 44147	NM_001614.5(ACTG1):c.363+13C>A	ACTG1	Single nucleotide variant (intron variant)	Baraitser-winter syndrome 2 +2 more	GBenign
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 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 385516	NM_001614.5(ACTG1):c.39C>T (p.Gly13=)	ACTG1, LOC130061940	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +4 more	GBenign/Likely benign
Select item 226457	NM_001614.5(ACTG1):c.-6-3C>T	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +3 more	GBenign