"Ambry Genetics"[submitter] AND "FAR1"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2544924	NM_032228.6(FAR1):c.209A>G (p.Asp70Gly)	FAR1 (D70G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2971913	NM_032228.6(FAR1):c.229G>C (p.Glu77Gln)	FAR1 (E77Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1950002	NM_032228.6(FAR1):c.248A>G (p.Asn83Ser)	FAR1 (N83S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2333757	NM_032228.6(FAR1):c.250A>C (p.Ser84Arg)	FAR1 (S84R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1356945	NM_032228.6(FAR1):c.286G>C (p.Glu96Gln)	FAR1 (E96Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 719360	NM_032228.6(FAR1):c.286G>A (p.Glu96Lys)	FAR1 (E96K)	Single nucleotide variant (missense variant)	Fatty acyl-CoA reductase 1 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 3092859	NM_032228.6(FAR1):c.298G>A (p.Val100Met)	FAR1 (V100M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1376691	NM_032228.6(FAR1):c.304A>G (p.Ile102Val)	FAR1 (I102V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1975437	NM_032228.6(FAR1):c.307G>A (p.Asp103Asn)	FAR1 (D103N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1519489	NM_032228.6(FAR1):c.478C>T (p.Arg160Cys)	FAR1 (R160C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1416865	NM_032228.6(FAR1):c.479G>A (p.Arg160His)	FAR1 (R160H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1366993	NM_032228.6(FAR1):c.793A>G (p.Ile265Val)	FAR1 (I265V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1446714	NM_032228.6(FAR1):c.809A>G (p.Asn270Ser)	FAR1 (N270S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3277693	NM_032228.6(FAR1):c.950A>G (p.Glu317Gly)	FAR1 (E317G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1508509	NM_032228.6(FAR1):c.1007G>A (p.Arg336Lys)	FAR1 (R336K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3277694	NM_032228.6(FAR1):c.1110G>T (p.Met370Ile)	FAR1 (M370I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1375109	NM_032228.6(FAR1):c.1243C>T (p.Pro415Ser)	FAR1 (P415S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2421305	NM_032228.6(FAR1):c.1400G>A (p.Arg467His)	FAR1 (R467H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1407457	NM_032228.6(FAR1):c.1493G>A (p.Ser498Asn)	FAR1 (S498N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1479587	NM_032228.6(FAR1):c.1523G>A (p.Arg508Gln)	FAR1 (R508Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 20