"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 994433	NM_000288.4(PEX7):c.234C>A (p.Asn78Lys)	PEX7 (N78K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 291202	NM_000288.4(PEX7):c.339+10A>G	PEX7	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 9B +2 more	GConflicting classifications of pathogenicity
Select item 255746	NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)	PEX7 (Q126P)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 1 +5 more	GBenign/Likely benign
Select item 811968	NM_000288.4(PEX7):c.408T>G (p.Thr136=)	PEX7	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 355532	NM_000288.4(PEX7):c.615C>T (p.Asp205=)	PEX7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 198711	NM_000288.4(PEX7):c.748-5del	PEX7	Deletion (intron variant)	Peroxisome biogenesis disorder 9B +2 more	GBenign
Select item 7780	NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)	PEX7 (L292*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 618267	NM_000288.4(PEX7):c.*407del	PEX7	Deletion (3 prime UTR variant)	not provided	GBenign

ClinVar