"GeneDx"[submitter] AND "PEX13"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60146	GRCh38/hg38 2p16.1-15(chr2:56738054-62473668)x1	B3GNT2, BCL11A +161 more	Copy number loss	See cases	GPathogenic
Select item 60147	GRCh38/hg38 2p16.1-15(chr2:57249378-61842734)x1	LOC110120782, LOC110120811 +123 more	Copy number loss	See cases	GPathogenic
Select item 60148	GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1	B3GNT2, BCL11A +187 more	Copy number loss	See cases	GPathogenic
Select item 1289711	NC_000002.12:g.61017528A>C	PEX13, PUS10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 193235	NM_002618.4(PEX13):c.-6G>C	PEX13, PUS10	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GLikely benign
Select item 289819	NM_002618.4(PEX13):c.26C>G (p.Pro9Arg)	PEX13, PUS10 (P9R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger) +2 more	GUncertain significance
Select item 500639	NM_002618.4(PEX13):c.89T>C (p.Phe30Ser)	PEX13, PUS10 (F30S)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 11A (Zellweger) +3 more	GUncertain significance
Select item 1254325	NM_002618.4(PEX13):c.92+100C>G	PUS10, PEX13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261906	NM_002618.4(PEX13):c.92+212A>G	PEX13, PUS10	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3371521	NM_002618.4(PEX13):c.287A>G (p.Tyr96Cys)	PEX13 (Y96C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2149787	NM_002618.4(PEX13):c.382G>C (p.Gly128Arg)	PEX13 (G128R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 393053	NM_002618.4(PEX13):c.446C>G (p.Ala149Gly)	PEX13 (A149G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1188168	NM_002618.4(PEX13):c.788-82G>A	PEX13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 287094	NM_002618.4(PEX13):c.880C>T (p.Arg294Trp)	PEX13 (R294W)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder +3 more	GConflicting classifications of pathogenicity
Select item 1232043	NM_002618.4(PEX13):c.913+215G>A	PEX13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191830	NM_002618.4(PEX13):c.913+215G>T	PEX13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216338	NM_002618.4(PEX13):c.914-103T>C	PEX13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 7704	NM_002618.4(PEX13):c.977T>C (p.Ile326Thr)	PEX13 (I326T)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11A (Zellweger) +2 more	GConflicting classifications of pathogenicity
Select item 336670	NM_002618.4(PEX13):c.1078C>G (p.Leu360Val)	PEX13 (L360V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 11A (Zellweger) +1 more	GBenign/Likely benign
Select item 1800504	NM_002618.4(PEX13):c.1205A>G (p.Asp402Gly)	PEX13 (D402G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3253582	NM_002618.4(PEX13):c.1210T>C (p.Ter404Arg)	PEX13	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 253686	GRCh37/hg19 2p16.1-15(chr2:60405806-62442792)x3	B3GNT2, BCL11A +11 more	Copy number gain	See cases	GUncertain significance

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Items: 22