ClinVar for MedGen (Select 338045) - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024360	NM_002437.5(MPV17):c.503A>G (p.Tyr168Cys)	MPV17 (Y168C)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GLikely pathogenic
Select item 2681195	NM_002437.5(MPV17):c.[122G>A];[71-2A>G]			Charcot-Marie-Tooth disease, axonal, type 2EE	GLikely pathogenic
Select item 2430184	NM_002437.5(MPV17):c.210C>A (p.Tyr70Ter)	MPV17, UCN (Y70*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +1 more	GPathogenic
Select item 2053978	NM_002437.5(MPV17):c.160A>G (p.Met54Val)	MPV17 (M54V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1526092	NM_002437.5(MPV17):c.281G>A (p.Gly94Glu)	MPV17 (G94E)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GUncertain significance
Select item 1339934	NM_002437.5(MPV17):c.405C>G (p.Tyr135Ter)	MPV17 (Y135*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 1339192	NM_002437.5(MPV17):c.388G>C (p.Ala130Pro)	MPV17 (A130P)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GUncertain significance
Select item 1184762	NM_002437.5(MPV17):c.462-21T>C	MPV17	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, axonal, type 2EE +2 more	GBenign
Select item 1166440	NM_002437.5(MPV17):c.180C>A (p.Gly60=)	MPV17	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +2 more	GBenign/Likely benign
Select item 1065949	NM_002437.5(MPV17):c.428T>G (p.Leu143Ter)	MPV17 (L143*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 987742	NM_002437.5(MPV17):c.277C>T (p.Gln93Ter)	MPV17 (Q93*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GPathogenic
Select item 898499	NM_002437.5(MPV17):c.291C>T (p.Ala97=)	MPV17	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GUncertain significance
Select item 897345	NM_002437.5(MPV17):c.*54C>T	MPV17	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GUncertain significance
Select item 897344	NM_002437.5(MPV17):c.*72A>C	MPV17	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GUncertain significance
Select item 897343	NM_002437.5(MPV17):c.*188A>G	MPV17	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GUncertain significance
Select item 897342	NM_002437.5(MPV17):c.*229T>C	MPV17	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GLikely benign
Select item 896848	NM_002437.5(MPV17):c.*351C>T	MPV17	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GUncertain significance
Select item 896847	NM_002437.5(MPV17):c.*366C>T	MPV17	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GUncertain significance
Select item 896846	NM_002437.5(MPV17):c.*367G>A	MPV17	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GUncertain significance
Select item 895508	NM_002437.5(MPV17):c.223C>G (p.Arg75Gly)	MPV17 (R75G)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GUncertain significance
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 694367	NM_002437.5(MPV17):c.408T>G (p.Tyr136Ter)	MPV17 (Y136*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GLikely pathogenic
Select item 694366	NM_002437.5(MPV17):c.197T>A (p.Val66Glu)	MPV17 (V66E)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GUncertain significance
Select item 694365	NM_002437.5(MPV17):c.130C>T (p.Gln44Ter)	MPV17 (Q44*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GLikely pathogenic
Select item 694364	NM_002437.5(MPV17):c.107A>C (p.Gln36Pro)	MPV17 (Q36P)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GConflicting classifications of pathogenicity
Select item 694363	NM_002437.5(MPV17):c.62T>G (p.Leu21Arg)	MPV17 (L21R)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GUncertain significance
Select item 694362	NM_002437.5(MPV17):c.278A>C (p.Gln93Pro)	MPV17 (Q93P)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +1 more	GPathogenic/Likely pathogenic
Select item 694361	NM_002437.5(MPV17):c.67G>C (p.Ala23Pro)	MPV17 (A23P)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GLikely pathogenic
Select item 691983	NM_002437.5(MPV17):c.279+1G>T	MPV17	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GPathogenic
Select item 635346	NM_002437.5(MPV17):c.414dup (p.Pro139fs)	MPV17 (P139fs)	Duplication (frameshift variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GPathogenic
Select item 635316	NM_002437.5(MPV17):c.403T>A (p.Tyr135Asn)	MPV17 (Y135N)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GUncertain significance
Select item 626263	NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)	MPV17 (R41Q)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome +3 more	GPathogenic/Likely pathogenic
Select item 596898	NM_002437.5(MPV17):c.283G>A (p.Gly95Ser)	MPV17 (G95S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, type 2EE +2 more	GUncertain significance
Select item 594957	NM_002437.5(MPV17):c.156G>A (p.Leu52=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 594010	NM_002437.5(MPV17):c.451C>T (p.Leu151Phe)	MPV17 (L151F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 522377	NM_002437.4(MPV17):c.71-2_79delins4	MPV17	Indel	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GPathogenic
Select item 522376	NM_002437.5(MPV17):c.376-1G>A	MPV17	Single nucleotide variant (splice acceptor variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GPathogenic
Select item 522375	NM_002437.5(MPV17):c.376-2A>C	MPV17	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 522374	NM_002437.5(MPV17):c.293del (p.Pro98fs)	MPV17 (P98fs)	Deletion (frameshift variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +1 more	GPathogenic
Select item 522373	NM_002437.5(MPV17):c.297T>A (p.Cys99Ter)	MPV17 (C99*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GLikely pathogenic
Select item 522372	NM_002437.5(MPV17):c.284G>A (p.Gly95Asp)	MPV17 (G95D)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GUncertain significance
Select item 522371	NM_002437.5(MPV17):c.275A>G (p.Asp92Gly)	MPV17 (D92G)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GLikely pathogenic
Select item 424255	NM_002437.5(MPV17):c.408+1G>A	MPV17	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 418311	NM_002437.5(MPV17):c.461G>T (p.Arg154Met)	MPV17 (R154M)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 418309	NM_002437.5(MPV17):c.375G>A (p.Arg125=)	MPV17	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely pathogenic
Select item 387978	NM_002437.5(MPV17):c.444G>A (p.Leu148=)	MPV17	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +1 more	GBenign
Select item 387355	NM_002437.5(MPV17):c.*12T>G	MPV17	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +1 more	GConflicting classifications of pathogenicity
Select item 381523	NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)	MPV17 (P64R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, type 2EE +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 15 (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 15 (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 +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 15 (hepatocerebral type) +2 more	GUncertain significance
Select item 335525	NM_002437.5(MPV17):c.*34G>A	MPV17	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) +1 more	GUncertain significance
Select item 335524	NM_002437.5(MPV17):c.*80C>T	MPV17	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +1 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 335522	NM_002437.5(MPV17):c.*194G>A	MPV17	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome +1 more	GUncertain significance
Select item 335521	NM_002437.5(MPV17):c.*347C>T	MPV17	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) +1 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 15 (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 15 (hepatocerebral type) +1 more	GUncertain significance
Select item 290443	NM_002437.5(MPV17):c.280-1dup	MPV17	Duplication (splice acceptor variant)	Charcot-Marie-Tooth disease, axonal, type 2EE +2 more	GConflicting classifications of pathogenicity
Select item 284160	NM_002437.5(MPV17):c.61C>G (p.Leu21Val)	MPV17 (L21V)	Single nucleotide variant (missense variant)	MPV17-related condition +1 more	GConflicting classifications of pathogenicity
Select item 283585	NM_002437.5(MPV17):c.239C>T (p.Thr80Ile)	MPV17 (T80I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 242902	NM_002437.5(MPV17):c.106C>T (p.Gln36Ter)	MPV17 (Q36*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease, axonal, type 2EE +1 more	GConflicting classifications of pathogenicity
Select item 214662	NM_002437.5(MPV17):c.135del (p.Glu45fs)	MPV17 (E45fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease, axonal, type 2EE +2 more	GPathogenic/Likely pathogenic
Select item 214660	NM_002437.5(MPV17):c.121C>T (p.Arg41Trp)	MPV17 (R41W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, type 2EE +2 more	GConflicting classifications of pathogenicity
Select item 195172	NM_002437.5(MPV17):c.27G>T (p.Arg9=)	MPV17	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome +4 more	GConflicting classifications of pathogenicity
Select item 38358	NM_002437.5(MPV17):c.509C>T (p.Ser170Phe)	MPV17 (S170F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 38356	NM_002437.5(MPV17):c.451dup (p.Leu151fs)	MPV17 (L151fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease, axonal, type 2EE +2 more	GConflicting classifications of pathogenicity
Select item 38355	NM_002437.5(MPV17):c.293C>T (p.Pro98Leu)	MPV17 (P98L)	Single nucleotide variant (missense variant)	MPV17-Related Disorders +4 more	GPathogenic
Select item 38353	NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del)	MPV17 (L91del)	Microsatellite (inframe_deletion)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 38352	NM_002437.5(MPV17):c.260AGA[1] (p.Lys88del)	MPV17 (K88del)	Microsatellite (inframe_deletion)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 38350	NM_002437.5(MPV17):c.234_242del (p.Gly79_Thr81del)	MPV17	Deletion (inframe_deletion)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GUncertain significance
Select item 38348	NM_002437.5(MPV17):c.206G>A (p.Trp69Ter)	MPV17 (W69*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease, axonal, type 2EE +3 more	GPathogenic/Likely pathogenic
Select item 38347	NM_002437.5(MPV17):c.186+2T>C	MPV17	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 16166	NG_008075.1(MPV17):g.16680_18253delinsCCTG	MPV17	Indel	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GPathogenic
Select item 16165	NM_002437.5(MPV17):c.70G>T (p.Gly24Trp)	MPV17 (G24W)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GUncertain significance
Select item 16164	NM_002437.5(MPV17):c.359G>A (p.Trp120Ter)	MPV17 (W120*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 16163	NM_002437.5(MPV17):c.122_147del (p.Arg41fs)	MPV17 (R41fs)	Deletion (frameshift variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GPathogenic
Select item 16162	NM_002437.5(MPV17):c.148C>T (p.Arg50Trp)	MPV17 (R50W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 16161	NM_002437.5(MPV17):c.498C>A (p.Asn166Lys)	MPV17 (N166K)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GPathogenic
Select item 16160	NM_002437.5(MPV17):c.149G>A (p.Arg50Gln)	MPV17 (R50Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic

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Items: 81