"GeneDx"[submitter] AND "PUS10"[gene] - ClinVar - NCBI

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Items: 10

	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 253686	GRCh37/hg19 2p16.1-15(chr2:60405806-62442792)x3	B3GNT2, BCL11A +11 more	Copy number gain	See cases	GUncertain significance