ClinVar for MedGen (Select 1799166) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2663971	NM_032620.4(GTPBP3):c.967del (p.Arg323fs)	GTPBP3 (R323fs +2 more)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 23	GLikely pathogenic
Select item 1802991	NM_032620.4(GTPBP3):c.187C>T (p.Arg63Ter)	GTPBP3 (R63* +1 more)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 23	GPathogenic
Select item 1699455	NM_032620.4(GTPBP3):c.1385G>A (p.Arg462Gln)	GTPBP3 (R441Q +3 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 23	GUncertain significance
Select item 1698817	NM_032620.4(GTPBP3):c.521G>C (p.Arg174Pro)	GTPBP3 (R174P +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 23	GLikely pathogenic
Select item 1520589	NM_032620.4(GTPBP3):c.1424G>C (p.Gly475Ala)	GTPBP3 (G497A +3 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 23 +1 more	GUncertain significance
Select item 1483843	NM_032620.4(GTPBP3):c.776A>G (p.Asn259Ser)	GTPBP3 (N281S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1467442	NM_032620.4(GTPBP3):c.169G>C (p.Ala57Pro)	GTPBP3 (A57P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1397558	NM_032620.4(GTPBP3):c.682G>T (p.Ala228Ser)	GTPBP3 (A250S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1323041	NM_032620.4(GTPBP3):c.664+23_664+26del	GTPBP3 (K231fs)	Deletion (frameshift variant +1 more)	Combined oxidative phosphorylation defect type 23 +1 more	GPathogenic
Select item 1301803	NM_032620.4(GTPBP3):c.592-1G>C	GTPBP3	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1285311	NM_032620.4(GTPBP3):c.974+38G>A	GTPBP3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1252038	NM_032620.4(GTPBP3):c.413C>A (p.Ala138Glu)	GTPBP3 (A138E +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 23	GUncertain significance
Select item 1238775	NM_032620.4(GTPBP3):c.974+37G>C	GTPBP3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1204496	NM_032620.4(GTPBP3):c.664+18T>G	GTPBP3 (W228G)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 23 +1 more	GConflicting classifications of pathogenicity
Select item 1031608	NM_032620.4(GTPBP3):c.1409G>A (p.Arg470Gln)	GTPBP3 (R470Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1031119	NM_032620.4(GTPBP3):c.188G>A (p.Arg63Gln)	GTPBP3 (R85Q +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 23	GUncertain significance
Select item 973076	NM_032620.4(GTPBP3):c.424G>A (p.Glu142Lys)	GTPBP3 (E142K +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 23	Gnot provided
Select item 931581	NM_032620.4(GTPBP3):c.392G>C (p.Ser131Thr)	GTPBP3 (S131T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 931027	NM_032620.4(GTPBP3):c.673G>A (p.Glu225Lys)	GTPBP3 (E257K +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 23	GUncertain significance
Select item 800909	NM_032620.4(GTPBP3):c.1439T>A (p.Ile480Asn)	GTPBP3 (I502N +3 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 23	GUncertain significance
Select item 693995	NM_032620.4(GTPBP3):c.215C>T (p.Pro72Leu)	GTPBP3 (P94L +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 23 +1 more	GUncertain significance
Select item 693994	NM_032620.4(GTPBP3):c.1175C>G (p.Pro392Arg)	GTPBP3 (P371R +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 488528	NM_032620.4(GTPBP3):c.1112T>C (p.Leu371Pro)	GTPBP3 (L393P +3 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 23	GLikely pathogenic
Select item 488527	NM_032620.4(GTPBP3):c.643G>T (p.Glu215Ter)	GTPBP3 (E237* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 488526	NM_032620.4(GTPBP3):c.517C>T (p.Arg173Trp)	GTPBP3 (R195W +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 23	GLikely pathogenic
Select item 488525	NM_032620.4(GTPBP3):c.440C>T (p.Ala147Val)	GTPBP3 (A169V +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 23 +1 more	GConflicting classifications of pathogenicity
Select item 379977	NM_032620.4(GTPBP3):c.749T>C (p.Val250Ala)	GTPBP3 (V272A +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 379975	NM_032620.4(GTPBP3):c.198A>C (p.Thr66=)	GTPBP3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 180619	NM_032620.4(GTPBP3):c.32_33delinsGTG (p.Gln11fs)	GTPBP3 (Q11fs)	Indel (frameshift variant +1 more)	Combined oxidative phosphorylation defect type 23	GPathogenic
Select item 180618	NM_032620.4(GTPBP3):c.1009G>C (p.Asp337His)	GTPBP3 (D337H +2 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 23	GPathogenic
Select item 180617	NM_032620.4(GTPBP3):c.964G>C (p.Ala322Pro)	GTPBP3 (A322P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 180616	NM_032620.4(GTPBP3):c.476A>T (p.Glu159Val)	GTPBP3 (E159V +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 23	GPathogenic
Select item 180615	NM_032620.4(GTPBP3):c.1375G>A (p.Glu459Lys)	GTPBP3 (E459K +3 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 23	GPathogenic
Select item 180614	NM_032620.4(GTPBP3):c.1291dup (p.Arg431fs)	GTPBP3 (R463fs +3 more)	Duplication (frameshift variant)	Combined oxidative phosphorylation defect type 23	GPathogenic

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Items: 34