ACSF2[gene] and "single gene"[properties] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2609844	NM_025149.6(ACSF2):c.21G>A (p.Met7Ile)	ACSF2 (M7I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139577	NM_025149.6(ACSF2):c.43G>C (p.Ala15Pro)	ACSF2 (A15P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139533	NM_025149.6(ACSF2):c.106T>A (p.Leu36Met)	ACSF2 (L36M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258431	NM_025149.6(ACSF2):c.145C>T (p.Arg49Cys)	ACSF2 (R49C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3139551	NM_025149.6(ACSF2):c.150G>T (p.Met50Ile)	ACSF2 (M50I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2328738	NM_025149.6(ACSF2):c.152T>G (p.Val51Gly)	ACSF2 (V51G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2391631	NM_025149.6(ACSF2):c.158C>T (p.Thr53Met)	ACSF2 (T53M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2604396	NM_025149.6(ACSF2):c.181G>A (p.Val61Ile)	ACSF2 (V61I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3139571	NM_025149.6(ACSF2):c.208A>G (p.Asn70Asp)	ACSF2 (N95D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3139579	NM_025149.6(ACSF2):c.503A>T (p.Lys168Met)	ACSF2 (K193M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300241	NM_025149.6(ACSF2):c.646G>A (p.Val216Ile)	ACSF2 (V173I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595606	NM_025149.6(ACSF2):c.653C>T (p.Ser218Leu)	ACSF2 (S205L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352638	NM_025149.6(ACSF2):c.694G>A (p.Val232Met)	ACSF2 (V219M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514415	NM_025149.6(ACSF2):c.701C>T (p.Ala234Val)	ACSF2 (A191V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290257	NM_025149.6(ACSF2):c.932A>G (p.His311Arg)	ACSF2 (H151R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367422	NM_025149.6(ACSF2):c.959T>C (p.Met320Thr)	ACSF2 (M277T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367366	NM_025149.6(ACSF2):c.1104C>A (p.Asp368Glu)	ACSF2 (D208E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274404	NM_025149.6(ACSF2):c.1124C>T (p.Ser375Leu)	ACSF2 (S362L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139541	NM_025149.6(ACSF2):c.1259A>C (p.His420Pro)	ACSF2 (H407P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605114	NM_025149.6(ACSF2):c.1264C>T (p.Pro422Ser)	ACSF2 (P447S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139544	NM_025149.6(ACSF2):c.1342G>A (p.Glu448Lys)	ACSF2 (E288K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139547	NM_025149.6(ACSF2):c.1456G>A (p.Asp486Asn)	ACSF2 (D443N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557331	NM_025149.6(ACSF2):c.1516G>A (p.Val506Met)	ACSF2 (V346M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280787	NM_025149.6(ACSF2):c.1523G>A (p.Arg508His)	ACSF2 (R495H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232158	NM_025149.6(ACSF2):c.1547G>A (p.Gly516Asp)	ACSF2 (G473D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402594	NM_025149.6(ACSF2):c.1669C>T (p.Arg557Trp)	ACSF2 (R514W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139567	NM_025149.6(ACSF2):c.1828G>A (p.Glu610Lys)	ACSF2 (E567K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139569	NM_025149.6(ACSF2):c.1832G>T (p.Arg611Leu)	ACSF2 (R568L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 28