ClinVar for MedGen (Select 340816) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444499	NM_002085.5(GPX4):c.365del (p.Gly122fs)	GPX4 (G122fs +2 more)	Deletion (frameshift variant)	Spondylometaphyseal dysplasia, Sedaghatian type	GLikely pathogenic
Select item 1422567	NM_002085.5(GPX4):c.438_441del (p.Lys145_Trp146insTer)	GPX4	Deletion (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1332848	NM_002085.5(GPX4):c.536G>A (p.Arg179His)	GPX4 (R152H +2 more)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1028980	NM_002085.5(GPX4):c.85-321G>A	GPX4 (R44Q)	Single nucleotide variant (missense variant +1 more)	Spondylometaphyseal dysplasia, Sedaghatian type +2 more	GConflicting classifications of pathogenicity
Select item 451510	NM_002085.5(GPX4):c.502-1del	GPX4 (V175fs)	Deletion (frameshift variant +1 more)	Spondylometaphyseal dysplasia, Sedaghatian type +1 more	GLikely pathogenic
Select item 140617	NM_002085.5(GPX4):c.270C>A (p.Tyr90Ter)	GPX4 (Y127* +2 more)	Single nucleotide variant (nonsense)	Spondylometaphyseal dysplasia, Sedaghatian type	GPathogenic
Select item 140616	NM_002085.5(GPX4):c.477-8_477-4del	GPX4	Deletion (intron variant)	Spondylometaphyseal dysplasia, Sedaghatian type	GPathogenic
Select item 140615	NM_002085.5(GPX4):c.476+5G>A	GPX4	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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