ClinVar for MedGen (Select 1733837) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1803191	NM_005530.3(IDH3A):c.805G>A (p.Gly269Ser)	IDH3A (G269S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 90	GUncertain significance
Select item 1462521	NM_005530.3(IDH3A):c.937A>C (p.Met313Leu)	IDH3A (M313L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 977474	NM_005530.3(IDH3A):c.364G>A (p.Ala122Thr)	IDH3A (A122T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 90 +1 more	GConflicting classifications of pathogenicity
Select item 977473	NM_005530.3(IDH3A):c.612G>A (p.Met204Ile)	IDH3A (M204I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 90	GPathogenic
Select item 977472	NM_005530.3(IDH3A):c.946C>T (p.Arg316Cys)	IDH3A (R316C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 977471	NM_005530.3(IDH3A):c.463G>T (p.Gly155Ter)	IDH3A (G155*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 977470	NM_005530.3(IDH3A):c.524C>T (p.Ala175Val)	IDH3A (A175V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 90	GPathogenic
Select item 977469	NM_005530.3(IDH3A):c.403del (p.Thr135fs)	IDH3A (T135fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 977468	NM_005530.3(IDH3A):c.716T>C (p.Met239Thr)	IDH3A (M239T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 90	GPathogenic
Select item 812332	NM_005530.3(IDH3A):c.938T>C (p.Met313Thr)	IDH3A (M313T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 812331	NM_005530.3(IDH3A):c.911C>A (p.Pro304His)	IDH3A (P304H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity