ClinVar for MedGen (Select 900333) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068282	NM_001351132.2(PEX5):c.1819dup (p.Leu607fs)	PEX5 (L562fs +6 more)	Duplication (frameshift variant)	Rhizomelic chondrodysplasia punctata type 5	GLikely pathogenic
Select item 2582386	NM_001351132.2(PEX5):c.147+4A>G	PEX5 (S51G)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 2B +2 more	GLikely pathogenic
Select item 1489049	NM_001351132.2(PEX5):c.1870G>A (p.Asp624Asn)	PEX5 (D621N +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +2 more	GUncertain significance
Select item 1471006	NM_001351132.2(PEX5):c.135_147+33delinsC	PEX5	Indel (inframe_deletion +1 more)	Peroxisome biogenesis disorder 2B +2 more	GLikely pathogenic
Select item 1361478	NM_001351132.2(PEX5):c.664A>G (p.Ile222Val)	PEX5 (I222V +1 more)	Single nucleotide variant (missense variant +1 more)	Rhizomelic chondrodysplasia punctata type 5 +2 more	GUncertain significance
Select item 768511	NM_001351132.2(PEX5):c.147+77_147+121del	PEX5	Microsatellite (splice donor variant)	Rhizomelic chondrodysplasia punctata type 5 +3 more	GConflicting classifications of pathogenicity
Select item 559038	NM_001351132.2(PEX5):c.967-26C>G	PEX5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 498328	NM_001351132.2(PEX5):c.230G>A (p.Arg77His)	PEX5 (R77H +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +3 more	GUncertain significance
Select item 310435	NM_001351132.2(PEX5):c.1902G>A (p.Met634Ile)	PEX5 (M626I +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +2 more	GUncertain significance
Select item 310418	NM_001351132.2(PEX5):c.533G>A (p.Gly178Glu)	PEX5 (G178E +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +3 more	GUncertain significance
Select item 235376	NM_001351132.2(PEX5):c.815T>C (p.Met272Thr)	PEX5 (M272T +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 194614	NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn)	PEX5 (S597N +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2A (Zellweger) +4 more	GUncertain significance
Select item 190410	NM_001351132.2(PEX5):c.677dup (p.Val227fs)	PEX5 (V242fs +1 more)	Duplication (frameshift variant +1 more)	Rhizomelic chondrodysplasia punctata	GPathogenic