Related gene-specific medical variations for Gene (Select 116285) - ClinVar - NCBI

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

Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263048	NM_001318890.3(ACSM1):c.392G>A (p.Cys131Tyr)	ACSM1, ACSM3 (C131Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140263	NM_001318890.3(ACSM1):c.571C>A (p.His191Asn)	ACSM1, ACSM3 (H191N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140250	NM_001318890.3(ACSM1):c.290G>A (p.Arg97His)	ACSM1, ACSM3 (R97H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140243	NM_001318890.3(ACSM1):c.287G>A (p.Arg96His)	ACSM1, ACSM3 (R96H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140239	NM_001318890.3(ACSM1):c.245A>C (p.Asp82Ala)	ACSM1, ACSM3 (D82A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140233	NM_001318890.3(ACSM1):c.178G>C (p.Ala60Pro)	ACSM1, ACSM3 (A60P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525057	NM_001318890.3(ACSM1):c.71C>T (p.Pro24Leu)	ACSM1, ACSM3 (P24L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472570	NM_001318890.3(ACSM1):c.599G>A (p.Arg200Gln)	ACSM1, ACSM3 (R200Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464463	NM_001318890.3(ACSM1):c.494T>C (p.Ile165Thr)	ACSM1, ACSM3 (I165T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2408075	NM_001318890.3(ACSM1):c.446A>T (p.Asp149Val)	ACSM1, ACSM3 (D149V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367406	NM_001318890.3(ACSM1):c.19T>C (p.Phe7Leu)	ACSM1, ACSM3 (F7L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300009	NM_001318890.3(ACSM1):c.538C>G (p.Pro180Ala)	ACSM1, ACSM3 (P180A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289157	NM_001318890.3(ACSM1):c.89G>A (p.Arg30Gln)	ACSM1, ACSM3 (R30Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 776989	NM_001318890.3(ACSM1):c.192+9T>A	ACSM1, ACSM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 747986	NM_001318890.3(ACSM1):c.603G>A (p.Ser201=)	ACSM1, ACSM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign