Related gene-specific medical variations for Gene (Select 87) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065299	NM_001130004.2(ACTN1):c.2504T>A (p.Ile835Asn)	ACTN1 (I538N +19 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 2627068	NM_001130004.2(ACTN1):c.2683G>A (p.Val895Met)	ACTN1 (V598M +22 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 2627055	NM_001130004.2(ACTN1):c.1973T>C (p.Ile658Thr)	ACTN1 (I383T +10 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 2582773	NM_001130004.2(ACTN1):c.29A>G (p.Asn10Ser)	ACTN1 (N10S)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 2438851	NM_001130004.2(ACTN1):c.2482G>A (p.Val828Ile)	ACTN1 (V741I +4 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 15	GUncertain significance
Select item 1527826	GRCh37/hg19 14q24.1(chr14:69358173-69437698)	ACTN1	Copy number loss	not specified	GUncertain significance
Select item 1290436	NM_001130004.2(ACTN1):c.427+175G>A	ACTN1, LOC130055955	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 689098	GRCh37/hg19 14q24.1(chr14:69364029-69478695)x3	ACTN1	Copy number gain	not provided	GUncertain significance
Select item 684386	NM_001130004.2(ACTN1):c.2156A>C (p.Gln719Pro)	ACTN1 (Q719P)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 684385	NM_001130004.2(ACTN1):c.2157G>C (p.Gln719His)	ACTN1 (Q719H)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 636678	NM_001130004.2(ACTN1):c.565G>C (p.Glu189Gln)	ACTN1 (E189Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance