Related gene-specific medical variations for Gene (Select 23203) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251583	NM_015160.3(PMPCA):c.634-10T>A	LOC126860792, PMPCA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3215849	NM_015160.3(PMPCA):c.811C>T (p.Leu271Phe)	LOC126860792, PMPCA (L140F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215848	NM_015160.3(PMPCA):c.743C>G (p.Pro248Arg)	LOC126860792, PMPCA (P117R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215847	NM_015160.3(PMPCA):c.604G>C (p.Glu202Gln)	LOC126860792, PMPCA (E202Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3027073	NM_015160.3(PMPCA):c.783G>T (p.Glu261Asp)	LOC126860792, PMPCA (E130D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995312	NM_015160.3(PMPCA):c.827C>T (p.Pro276Leu)	LOC126860792, PMPCA (P276L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967715	NM_015160.3(PMPCA):c.576G>A (p.Leu192=)	LOC126860792, PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794626	NM_015160.3(PMPCA):c.839G>A (p.Ser280Asn)	LOC126860792, PMPCA (S149N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721119	NM_015160.3(PMPCA):c.635C>T (p.Ala212Val)	LOC126860792, PMPCA (A212V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683091	NM_015160.3(PMPCA):c.704G>A (p.Arg235Gln)	LOC126860792, PMPCA (R104Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659735	NM_015160.3(PMPCA):c.765C>A (p.Gly255=)	LOC126860792, PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2550687	NM_015160.3(PMPCA):c.749G>A (p.Arg250His)	LOC126860792, PMPCA (R250H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2501941	NM_015160.3(PMPCA):c.553C>T (p.Arg185Trp)	LOC126860792, PMPCA (R185W +2 more)	Single nucleotide variant (missense variant)	not provided	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 2406836	NM_015160.3(PMPCA):c.607C>T (p.Pro203Ser)	LOC126860792, PMPCA (P103S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223431	NM_015160.3(PMPCA):c.688G>A (p.Val230Ile)	LOC126860792, PMPCA (V230I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2207314	NM_015160.3(PMPCA):c.826C>T (p.Pro276Ser)	LOC126860792, PMPCA (P276S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2126060	NM_015160.3(PMPCA):c.840C>T (p.Ser280=)	LOC126860792, PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1951921	NM_015160.3(PMPCA):c.763G>A (p.Gly255Ser)	LOC126860792, PMPCA (G124S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906590	NM_015160.3(PMPCA):c.71+11G>A	LOC130003010, PMPCA	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1380406	NM_015160.3(PMPCA):c.751A>G (p.Met251Val)	LOC126860792, PMPCA (M151V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298387	NM_015160.3(PMPCA):c.1093C>T (p.Leu365Phe)	PMPCA (L234F +2 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia	GUncertain significance
Select item 1271249	NM_015160.3(PMPCA):c.702C>T (p.Asn234=)	LOC126860792, PMPCA	Single nucleotide variant (synonymous variant)	not provided	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 1236646	NM_015160.3(PMPCA):c.634-87G>T	LOC126860792, PMPCA	Single nucleotide variant (intron variant)	not provided	GBenign
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 985640	NM_015160.3(PMPCA):c.622A>G (p.Met208Val)	LOC126860792, PMPCA (M108V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 872155	NM_015160.3(PMPCA):c.551C>T (p.Thr184Met)	LOC126860792, PMPCA (T84M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 795196	NM_015160.3(PMPCA):c.747C>T (p.Asp249=)	LOC126860792, PMPCA	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 757555	NM_015160.3(PMPCA):c.564C>G (p.Val188=)	LOC126860792, PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737227	NM_015160.3(PMPCA):c.762C>T (p.Ala254=)	LOC126860792, PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715631	NM_015160.3(PMPCA):c.780C>T (p.His260=)	LOC126860792, PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 452574	NM_015160.3(PMPCA):c.544G>A (p.Glu182Lys)	LOC126860792, PMPCA (E182K +2 more)	Single nucleotide variant (missense variant)	not provided	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

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Links from Gene

Items: 39