"GeneReviews"[submitter] AND "PNPLA6"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 101043	NM_001166114.2(PNPLA6):c.760G>A (p.Val254Ile)	PNPLA6 (V263I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 143933	NM_001166114.2(PNPLA6):c.1705G>T (p.Gly569Trp)	PNPLA6 (G578W +3 more)	Single nucleotide variant (missense variant)	Ataxia-hypogonadism-choroidal dystrophy syndrome	GPathogenic
Select item 6607	NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs)	PNPLA6 (R1031fs +3 more)	Duplication (frameshift variant)	not provided +7 more	GPathogenic
Select item 1195875	NM_001166114.2(PNPLA6):c.3104C>T (p.Ser1035Leu)	PNPLA6 (S1035L +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GPathogenic
Select item 6605	NM_001166114.2(PNPLA6):c.3148A>G (p.Met1050Val)	PNPLA6 (M1012V +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GPathogenic
Select item 183693	NM_001166114.2(PNPLA6):c.3266G>A (p.Arg1089Gln)	PNPLA6 (R1099Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic

ClinVar