C4540400[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16236	NM_000143.4(FH):c.698G>A (p.Arg233His)	FH (R233H)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45 +5 more	GPathogenic
Select item 2441364	NM_001447.3(FAT2):c.12337A>G (p.Asn4113Asp)	FAT2, SLC36A1 (N4113D)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45	GUncertain significance
Select item 2421867	NM_001447.3(FAT2):c.11792C>T (p.Thr3931Met)	FAT2, SLC36A1 (T3931M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2441362	NM_001447.3(FAT2):c.11435C>T (p.Thr3812Ile)	FAT2, SLC36A1 (T3812I)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45	GUncertain significance
Select item 2441365	NM_001447.3(FAT2):c.10111A>G (p.Ile3371Val)	FAT2, SLC36A1 (I3371V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2441363	NM_001447.3(FAT2):c.3781G>C (p.Gly1261Arg)	FAT2, SLC36A1 (G1261R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45 +1 more	GUncertain significance

ClinVar