ClinVar for MedGen (Select 1646555) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068458	NM_139242.4(MTFMT):c.368T>C (p.Val123Ala)	MTFMT (V123A)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 15	GUncertain significance
Select item 1334390	NM_139242.4(MTFMT):c.459G>A (p.Trp153Ter)	MTFMT (W153*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 15	GLikely pathogenic
Select item 1031157	NM_139242.4(MTFMT):c.34C>A (p.Pro12Thr)	MTFMT (P12T)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 15 +1 more	GUncertain significance
Select item 1031156	NM_139242.4(MTFMT):c.1123AAG[2] (p.Lys377del)	MTFMT (K377del)	Microsatellite (inframe_deletion)	Combined oxidative phosphorylation defect type 15 +2 more	GUncertain significance
Select item 1027739	NM_139242.4(MTFMT):c.466C>T (p.Pro156Ser)	MTFMT (P156S)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 15	GUncertain significance
Select item 1027738	NM_139242.4(MTFMT):c.460C>T (p.Arg154Cys)	MTFMT (R154C)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 15	GUncertain significance
Select item 1027737	NM_139242.4(MTFMT):c.419+3A>G	MTFMT	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 548003	NM_139242.4(MTFMT):c.19C>G (p.Arg7Gly)	MTFMT (R7G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 488549	NM_139242.4(MTFMT):c.91C>T (p.Arg31Ter)	MTFMT (R31*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 15	GPathogenic
Select item 440931	NM_139242.4(MTFMT):c.172T>A (p.Phe58Ile)	MTFMT (F58I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 435899	NM_139242.4(MTFMT):c.219_222del (p.Glu74fs)	MTFMT (E74fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 216965	NM_139242.4(MTFMT):c.1116del (p.Pro373fs)	MTFMT (P373fs)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 15	GLikely pathogenic
Select item 138264	NM_139242.4(MTFMT):c.796C>T (p.Arg266Cys)	MTFMT (R266C)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 133325	NM_139242.4(MTFMT):c.73C>T (p.Gln25Ter)	MTFMT (Q25*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 133324	NM_139242.4(MTFMT):c.878G>A (p.Ser293Asn)	MTFMT (S293N)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 15	GPathogenic
Select item 133323	NM_139242.4(MTFMT):c.146_153del (p.Arg49fs)	MTFMT (R49fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 120309	NM_139242.4(MTFMT):c.452C>T (p.Pro151Leu)	MTFMT (P151L)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 15	GPathogenic
Select item 39830	NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter)	MTFMT (R332*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 39829	NM_139242.4(MTFMT):c.374C>T (p.Ser125Leu)	MTFMT (S125L)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 15	GPathogenic/Likely pathogenic
Select item 39828	NM_139242.4(MTFMT):c.382C>T (p.Arg128Ter)	MTFMT (R128*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 39827	NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)	MTFMT (S209L)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 15 +10 more	GPathogenic

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Links from MedGen

Items: 21