"Illumina Laboratory Services, Illumina"[submitter] AND "RER1"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 876385	NM_002617.4(PEX10):c.*951G>C	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 876386	NM_002617.4(PEX10):c.*905A>C	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296252	NM_002617.4(PEX10):c.*854G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296253	NM_002617.4(PEX10):c.*838C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296254	NM_002617.4(PEX10):c.*835C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 874434	NM_002617.4(PEX10):c.*824G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296255	NM_002617.4(PEX10):c.*798C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296256	NM_002617.4(PEX10):c.*782C>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296257	NM_002617.4(PEX10):c.*744dup	PEX10, RER1	Duplication (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 296258	NM_002617.4(PEX10):c.*732G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296259	NM_002617.4(PEX10):c.*688G>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 875341	NM_002617.4(PEX10):c.*686C>G	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 875342	NM_002617.4(PEX10):c.*676C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely benign
Select item 875343	NM_002617.4(PEX10):c.*643C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296260	NM_002617.4(PEX10):c.*627C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 875344	NM_002617.4(PEX10):c.*595G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GBenign/Likely benign
Select item 296261	NM_002617.4(PEX10):c.*594C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296262	NM_002617.4(PEX10):c.*499G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 875345	NM_002617.4(PEX10):c.*445G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296263	NM_002617.4(PEX10):c.*420G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GUncertain significance
Select item 296264	NM_002617.4(PEX10):c.*410G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 875398	NM_002617.4(PEX10):c.*401A>C	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296265	NM_002617.4(PEX10):c.*352G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GBenign
Select item 1328099	GRCh37/hg19 1p36.33-36.32(chr1:753552-4034574)x1	ACAP3, ACTRT2 +76 more	Copy number loss	not provided	GPathogenic

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Items: 24