"GeneDx"[submitter] AND "PEX2"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60377	GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1	LOC130000646, LOC130000647 +191 more	Copy number loss	See cases	GPathogenic
Select item 58430	GRCh38/hg38 8q21.13(chr8:75021712-78044590)x3	CASC9, CRISPLD1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 146063	GRCh38/hg38 8q21.13(chr8:76115629-78506009)x1	LINC01109, LINC01111 +18 more	Copy number loss	See cases	GUncertain significance
Select item 1697995	NM_000318.3(PEX2):c.*137C>G	PEX2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 265330	NM_000318.3(PEX2):c.740G>A (p.Cys247Tyr)	PEX2 (C247Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 255818	NM_000318.3(PEX2):c.733G>A (p.Ala245Thr)	PEX2 (A245T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 504137	NM_000318.3(PEX2):c.624dup (p.Pro209fs)	PEX2 (P209fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 5A (Zellweger) +2 more	GPathogenic/Likely pathogenic
Select item 1308961	NM_000318.3(PEX2):c.607T>C (p.Phe203Leu)	PEX2 (F203L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 549898	NM_000318.3(PEX2):c.373C>T (p.Arg125Ter)	PEX2 (R125*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 5A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 504136	NM_000318.3(PEX2):c.310dup (p.Ile104fs)	PEX2 (I104fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 282347	NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys)	PEX2 (Y70C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 92838	NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)	PEX2 (Q31E)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger) +3 more	GConflicting classifications of pathogenicity
Select item 363818	NM_000318.3(PEX2):c.24G>A (p.Ala8=)	PEX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1177036	NM_000318.3(PEX2):c.-17-41G>T	PEX2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 253364	GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3	RPL7, XKR9 +34 more	Copy number gain	See cases	GLikely pathogenic