ClinVar for MedGen (Select 349134) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236231	NM_015160.3(PMPCA):c.1330G>A (p.Val444Met)	PMPCA (V313M +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 2	GUncertain significance
Select item 3065168	NM_015160.3(PMPCA):c.802C>T (p.Arg268Trp)	LOC126860792, PMPCA (R137W +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 2	GUncertain significance
Select item 2572590	NM_015160.3(PMPCA):c.1204C>T (p.Arg402Ter)	PMPCA (R271* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive spinocerebellar ataxia 2	GLikely pathogenic
Select item 2572476	NM_015160.3(PMPCA):c.667C>T (p.Arg223Cys)	PMPCA, LOC126860792 (R123C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 2	GUncertain significance
Select item 2435095	NM_015160.3(PMPCA):c.71+3G>A	LOC130003010, PMPCA	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 2	GUncertain significance
Select item 2435094	NM_015160.3(PMPCA):c.1099G>A (p.Val367Met)	PMPCA (V236M +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 2	GUncertain significance
Select item 1802623	NM_015160.3(PMPCA):c.160C>T (p.Pro54Ser)	PMPCA (P54S)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive spinocerebellar ataxia 2	GUncertain significance
Select item 1598832	NM_015160.3(PMPCA):c.633+17G>A	LOC126860792, PMPCA	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 2 +1 more	GBenign/Likely benign
Select item 1295437	NM_015160.3(PMPCA):c.1200+33G>A	PMPCA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1256054	NM_015160.3(PMPCA):c.634-266T>G	LOC126860792, PMPCA	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 2	GUncertain significance
Select item 1256053	NM_015160.3(PMPCA):c.1408+1G>A	PMPCA	Single nucleotide variant (splice donor variant)	Autosomal recessive spinocerebellar ataxia 2	GPathogenic
Select item 1220620	NM_015160.3(PMPCA):c.90C>T (p.Tyr30=)	PMPCA	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive spinocerebellar ataxia 2 +1 more	GBenign
Select item 1033742	NM_015160.3(PMPCA):c.897+6G>A	PMPCA	Single nucleotide variant (intron variant)	PMPCA-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1033741	NM_015160.3(PMPCA):c.258G>C (p.Gln86His)	PMPCA (Q86H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1033740	NM_015160.3(PMPCA):c.1205G>C (p.Arg402Pro)	PMPCA (R402P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 2	GUncertain significance
Select item 1027948	NM_015160.3(PMPCA):c.803G>A (p.Arg268Gln)	LOC126860792, PMPCA (R268Q +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 2	GUncertain significance
Select item 1027947	NM_015160.3(PMPCA):c.485C>T (p.Thr162Met)	PMPCA (T62M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 375401	NM_015160.3(PMPCA):c.554G>A (p.Arg185Gln)	LOC126860792, PMPCA (R185Q +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 2	GPathogenic
Select item 375400	NM_015160.3(PMPCA):c.64C>T (p.Arg22Trp)	PMPCA, LOC130003010 (R22W)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive spinocerebellar ataxia 2	GPathogenic
Select item 221566	NM_015160.3(PMPCA):c.766G>A (p.Val256Met)	LOC126860792, PMPCA (V256M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 221565	NM_015160.3(PMPCA):c.1543G>A (p.Gly515Arg)	PMPCA (G515R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 2	GPathogenic
Select item 221564	NM_015160.3(PMPCA):c.287C>T (p.Ser96Leu)	PMPCA (S96L)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive spinocerebellar ataxia 2	GPathogenic
Select item 221552	NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr)	PMPCA (A377T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 2 +13 more	GPathogenic

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Items: 23