Related gene-specific medical variations for Gene (Select 2879) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282563	NM_002085.5(GPX4):c.58G>A (p.Ala20Thr)	GPX4, LOC130062887 (A20T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3102110	NM_002085.5(GPX4):c.85-433G>A	GPX4, LOC130062887 (G7S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3050529	NM_002085.5(GPX4):c.-6G>A	GPX4, LOC130062887	Single nucleotide variant (5 prime UTR variant)	GPX4-related disorder	GLikely benign
Select item 2699319	NM_002085.5(GPX4):c.85-440G>T	GPX4, LOC130062887	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2360311	NM_002085.5(GPX4):c.10G>T (p.Gly4Cys)	GPX4, LOC130062887 (G4C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322470	NM_002085.5(GPX4):c.61G>A (p.Ala21Thr)	GPX4, LOC130062887 (A21T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319488	NM_002085.5(GPX4):c.73G>C (p.Ala25Pro)	GPX4, LOC130062887 (A25P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2193296	NM_002085.5(GPX4):c.85-403C>T	GPX4, LOC130062887 (Q17*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2049132	NM_002085.5(GPX4):c.85-401G>T	GPX4, LOC130062887 (Q17H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1939835	NM_002085.5(GPX4):c.85-429C>T	GPX4, LOC130062887 (S8F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1897086	NM_002085.5(GPX4):c.85-420G>A	GPX4, LOC130062887 (R11H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1658628	NM_002085.5(GPX4):c.85-425C>T	GPX4, LOC130062887	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1523088	NM_002085.5(GPX4):c.85-408G>C	GPX4, LOC130062887 (R15P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1470379	NM_002085.5(GPX4):c.85-426C>T	GPX4, LOC130062887 (P9L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1347118	NM_002085.5(GPX4):c.85-427C>T	GPX4, LOC130062887 (P9S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1258000	NM_002085.5(GPX4):c.36G>A (p.Pro12=)	GPX4, LOC130062887	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1241253	NM_002085.5(GPX4):c.84+401C>G	GPX4, LOC130062887	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231737	NM_002085.5(GPX4):c.84+437G>T	GPX4, LOC130062887	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174251	NM_002085.5(GPX4):c.84+312G>C	GPX4, LOC130062887	Single nucleotide variant (intron variant)	not provided	GBenign