ClinVar for MedGen (Select 1824045) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358966	NM_002522.4(NPTX1):c.1261_1287del (p.Thr421_Arg429del)	NPTX1	Deletion (inframe_deletion)	Spinocerebellar ataxia 50	GLikely pathogenic
Select item 3067920	NM_002522.4(NPTX1):c.396A>C (p.Gln132His)	NPTX1 (Q132H)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 50	GUncertain significance
Select item 2692519	NM_002522.4(NPTX1):c.539G>T (p.Arg180Leu)	NPTX1 (R180L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 50	GLikely pathogenic
Select item 1806390	NM_002522.4(NPTX1):c.1109A>G (p.Gln370Arg)	NPTX1 (Q370R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 50	GPathogenic
Select item 1806389	NM_002522.4(NPTX1):c.428G>T (p.Arg143Leu)	NPTX1	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 50	GPathogenic
Select item 1806388	NM_002522.4(NPTX1):c.980A>G (p.Glu327Gly)	NPTX1 (E327G)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 50	GPathogenic
Select item 1184956	NM_002522.4(NPTX1):c.1165G>A (p.Gly389Arg)	NPTX1 (G389R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic

ClinVar