"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "PMPCA"[gen - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1176585	NM_015160.3(PMPCA):c.114C>T (p.Ala38=)	PMPCA	Single nucleotide variant (5 prime UTR variant +1 more)	PMPCA-related condition +1 more	GLikely benign
Select item 778385	NM_015160.3(PMPCA):c.126C>T (p.Ile42=)	PMPCA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 713914	NM_015160.3(PMPCA):c.464C>T (p.Ala155Val)	PMPCA (A155V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 724025	NM_015160.3(PMPCA):c.476G>T (p.Gly159Val)	PMPCA (G59V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 872155	NM_015160.3(PMPCA):c.551C>T (p.Thr184Met)	PMPCA, LOC126860792 (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 2659735	NM_015160.3(PMPCA):c.765C>A (p.Gly255=)	LOC126860792, PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1033742	NM_015160.3(PMPCA):c.897+6G>A	PMPCA	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 2 +3 more	GConflicting classifications of pathogenicity
Select item 2583075	NM_015160.3(PMPCA):c.904A>C (p.Arg302=)	PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026746	NM_015160.3(PMPCA):c.1060G>A (p.Gly354Arg)	PMPCA (G223R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2152566	NM_015160.3(PMPCA):c.1098C>T (p.Asn366=)	PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722462	NM_015160.3(PMPCA):c.1479C>T (p.Ala493=)	PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659736	NM_015160.3(PMPCA):c.1525G>A (p.Ala509Thr)	PMPCA (A378T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 732550	NM_015160.3(PMPCA):c.1560G>A (p.Thr520=)	PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2673204	NM_015160.3(PMPCA):c.1575G>A (p.Arg525=)	PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign