"Care4Rare-SOLVE, CHEO"[submitter] AND "ABHD16A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1199390	NM_021160.3(ABHD16A):c.1333C>T (p.Arg445Ter)	ABHD16A (R412* +1 more)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia	GUncertain significance
Select item 1199389	NM_021160.3(ABHD16A):c.1226T>G (p.Leu409Arg)	ABHD16A (L376R +1 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1199393	NM_021160.3(ABHD16A):c.755G>A (p.Arg252Gln)	ABHD16A (R219Q +1 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1199391	NM_021160.3(ABHD16A):c.573del (p.Thr192fs)	ABHD16A (T159fs +1 more)	Deletion (frameshift variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1199392	NM_021160.3(ABHD16A):c.362A>T (p.Asn121Ile)	ABHD16A (N121I +1 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1199388	NM_021160.3(ABHD16A):c.353G>A (p.Arg118His)	ABHD16A (R118H +1 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance

ClinVar