ClinVar for MedGen (Select 1801286) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363138	NM_021160.3(ABHD16A):c.1307+1G>A	ABHD16A	Single nucleotide variant (splice donor variant)	Spastic paraplegia 86, autosomal recessive	GLikely pathogenic
Select item 2671941	NM_021160.3(ABHD16A):c.260A>G (p.Tyr87Cys)	ABHD16A (Y54C +1 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia 86, autosomal recessive	GUncertain significance
Select item 1341326	NM_021160.3(ABHD16A):c.835C>T (p.Gln279Ter)	ABHD16A (Q246*)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia 86, autosomal recessive	GPathogenic
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 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 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
Select item 1162196	NM_021160.3(ABHD16A):c.340C>T (p.Arg114Ter)	ABHD16A (R114* +1 more)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia 86, autosomal recessive +1 more	GPathogenic
Select item 1162195	NM_021160.3(ABHD16A):c.1370G>A (p.Arg457Gln)	ABHD16A (R424Q +1 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia 86, autosomal recessive +1 more	GPathogenic