ClinVar for MedGen (Select 863781) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333446	NM_032228.6(FAR1):c.58G>A (p.Gly20Ser)	FAR1 (G20S)	Single nucleotide variant (missense variant)	Fatty acyl-CoA reductase 1 deficiency +1 more	GUncertain significance
Select item 973461	NM_032228.6(FAR1):c.1016A>G (p.Asn339Ser)	FAR1 (N339S)	Single nucleotide variant (missense variant)	Fatty acyl-CoA reductase 1 deficiency +1 more	GUncertain significance
Select item 800893	NM_032228.6(FAR1):c.772G>A (p.Gly258Arg)	FAR1 (G258R)	Single nucleotide variant (missense variant)	Fatty acyl-CoA reductase 1 deficiency	GLikely pathogenic
Select item 732045	NM_032228.6(FAR1):c.909T>C (p.Tyr303=)	FAR1	Single nucleotide variant (synonymous variant)	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY +2 more	GBenign/Likely benign
Select item 719360	NM_032228.6(FAR1):c.286G>A (p.Glu96Lys)	FAR1 (E96K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 162214	NM_032228.6(FAR1):c.1094A>G (p.Asp365Gly)	FAR1 (D365G)	Single nucleotide variant (missense variant)	Fatty acyl-CoA reductase 1 deficiency	GPathogenic
Select item 162213	NM_032228.6(FAR1):c.787C>T (p.Arg263Ter)	FAR1 (R263*)	Single nucleotide variant (nonsense)	Fatty acyl-CoA reductase 1 deficiency	GPathogenic
Select item 162212	NM_032228.6(FAR1):c.495_507delinsT (p.Glu165_Pro169delinsAsp)	FAR1	Indel (inframe_indel)	Fatty acyl-CoA reductase 1 deficiency	GLikely pathogenic

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