ClinVar for PMC (Select 8026396) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 426339	NM_032228.6(FAR1):c.1439G>T (p.Arg480Leu)	FAR1 (R480L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 423867	NM_032228.6(FAR1):c.1438C>T (p.Arg480Cys)	FAR1 (R480C)	Single nucleotide variant (missense variant)	FAR1-related neurodevelopmental disorder +2 more	GPathogenic/Likely pathogenic
Select item 372689	NM_032228.6(FAR1):c.1439G>A (p.Arg480His)	FAR1 (R480H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

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