ClinVar for MedGen (Select 934657) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2681195	NM_002437.5(MPV17):c.[122G>A];[71-2A>G]			Charcot-Marie-Tooth disease, axonal, type 2EE	GLikely pathogenic
Select item 2585248	NM_003201.3(TFAM):c.441del (p.Glu148fs)	TFAM (E148fs)	Deletion (frameshift variant +1 more)	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	GLikely pathogenic
Select item 2437048	NM_003201.3(TFAM):c.313G>A (p.Ala105Thr)	TFAM (A105T)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	GUncertain significance
Select item 2043897	NM_003201.3(TFAM):c.291+9A>G	TFAM	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) +1 more	GConflicting classifications of pathogenicity
Select item 990646	NM_002437.5(MPV17):c.74C>A (p.Ser25Tyr)	MPV17 (S25Y)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	GUncertain significance
Select item 749029	NM_002437.5(MPV17):c.249G>A (p.Val83=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 706697	NM_002437.5(MPV17):c.390C>G (p.Ala130=)	MPV17	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +1 more	GConflicting classifications of pathogenicity
Select item 626263	NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)	MPV17 (R41Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, type 2EE +3 more	GPathogenic/Likely pathogenic
Select item 497955	NM_002437.5(MPV17):c.31C>T (p.Leu11=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 381523	NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)	MPV17 (P64R)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +3 more	GPathogenic/Likely pathogenic
Select item 335529	NM_002437.5(MPV17):c.-11G>C	MPV17	Single nucleotide variant (5 prime UTR variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +1 more	GUncertain significance
Select item 335528	NM_002437.5(MPV17):c.-6+8G>A	MPV17	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +1 more	GUncertain significance
Select item 335527	NM_002437.5(MPV17):c.164T>C (p.Val55Ala)	MPV17 (V55A)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +2 more	GConflicting classifications of pathogenicity
Select item 335526	NM_002437.5(MPV17):c.373C>T (p.Arg125Trp)	MPV17 (R125W)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +3 more	GUncertain significance
Select item 335525	NM_002437.5(MPV17):c.*34G>A	MPV17	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 335523	NM_002437.5(MPV17):c.*130G>T	MPV17	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) +1 more	GUncertain significance
Select item 335521	NM_002437.5(MPV17):c.*347C>T	MPV17	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 335520	NM_002437.5(MPV17):c.*360G>C	MPV17	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +1 more	GUncertain significance
Select item 335519	NM_002437.5(MPV17):c.*413A>C	MPV17	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +1 more	GUncertain significance
Select item 221285	NM_003201.3(TFAM):c.533C>T (p.Pro178Leu)	TFAM (P178L)	Single nucleotide variant (missense variant +2 more)	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	GLikely pathogenic
Select item 214663	NM_002437.5(MPV17):c.196G>T (p.Val66Leu)	MPV17 (V66L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214661	NM_002437.5(MPV17):c.20A>G (p.Tyr7Cys)	LOC129933372, MPV17 (Y7C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 38356	NM_002437.5(MPV17):c.451dup (p.Leu151fs)	MPV17 (L151fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 38348	NM_002437.5(MPV17):c.206G>A (p.Trp69Ter)	MPV17 (W69*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +3 more	GPathogenic/Likely pathogenic
Select item 16162	NM_002437.5(MPV17):c.148C>T (p.Arg50Trp)	MPV17 (R50W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic

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Items: 25