"GeneDx"[submitter] AND "PMPCA"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic
Select item 59139	GRCh38/hg38 9q34.3(chr9:136323542-136565950)x1	C9orf163, CARD9 +46 more	Copy number loss	See cases	GPathogenic
Select item 1259867	NC_000009.12:g.136410555C>T	ENTR1, PMPCA	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1295434	NC_000009.12:g.136410572G>A	ENTR1, PMPCA	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1263488	NC_000009.12:g.136410589C>T	ENTR1, PMPCA	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1262675	NM_015160.3(PMPCA):c.72-119C>T	PMPCA	Single nucleotide variant (intron variant)	not provided	GBenign
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 1293196	NM_015160.3(PMPCA):c.274+122C>T	PMPCA	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 1236646	NM_015160.3(PMPCA):c.634-87G>T	LOC126860792, PMPCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271249	NM_015160.3(PMPCA):c.702C>T (p.Asn234=)	LOC126860792, PMPCA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3363497	NM_015160.3(PMPCA):c.737dup (p.Tyr246Ter)	LOC126860792, PMPCA (Y115* +2 more)	Duplication (nonsense)	not provided	GUncertain significance
Select item 1307900	NM_015160.3(PMPCA):c.896A>G (p.Lys299Arg)	PMPCA (K168R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1252445	NM_015160.3(PMPCA):c.990+158T>C	PMPCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295438	NM_015160.3(PMPCA):c.991-35G>T	PMPCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295435	NM_015160.3(PMPCA):c.991-11C>T	PMPCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2435094	NM_015160.3(PMPCA):c.1099G>A (p.Val367Met)	PMPCA (V236M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1295437	NM_015160.3(PMPCA):c.1200+33G>A	PMPCA	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 2 +1 more	GBenign
Select item 1266536	NM_015160.3(PMPCA):c.1408+31C>T	PMPCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179403	NM_015160.3(PMPCA):c.1408+173C>T	PMPCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 743255	NM_015160.3(PMPCA):c.1514A>T (p.His505Leu)	PMPCA (H505L +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3252743	NM_015160.3(PMPCA):c.1541A>G (p.Asp514Gly)	PMPCA (D383G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1229906	NM_015160.3(PMPCA):c.*107C>T	PMPCA	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1293119	NM_015160.3(PMPCA):c.*153T>C	PMPCA	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 29