"Baylor Genetics"[submitter] AND "MPV17"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2676674	NM_002437.5(MPV17):c.462-2A>C	MPV17	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease, axonal, type 2EE	GLikely pathogenic
Select item 598353	NM_002437.5(MPV17):c.461+2T>C	MPV17	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease, axonal, type 2EE +1 more	GPathogenic/Likely pathogenic
Select item 2676677	NM_002437.5(MPV17):c.461+1G>T	MPV17	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease, axonal, type 2EE	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 3239744	NM_002437.5(MPV17):c.459C>G (p.Tyr153Ter)	MPV17 (Y153*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease, axonal, type 2EE	GLikely pathogenic
Select item 38356	NM_002437.5(MPV17):c.451dup (p.Leu151fs)	MPV17 (L151fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1065949	NM_002437.5(MPV17):c.428T>G (p.Leu143Ter)	MPV17 (L143*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +2 more	GPathogenic/Likely pathogenic
Select item 424255	NM_002437.5(MPV17):c.408+1G>A	MPV17	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +2 more	GLikely pathogenic
Select item 2676672	NM_002437.5(MPV17):c.408T>A (p.Tyr136Ter)	MPV17 (Y136*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease, axonal, type 2EE	GPathogenic
Select item 1451738	NM_002437.5(MPV17):c.405C>A (p.Tyr135Ter)	MPV17 (Y135*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease, axonal, type 2EE +1 more	GPathogenic/Likely pathogenic
Select item 522375	NM_002437.5(MPV17):c.376-2A>C	MPV17	Single nucleotide variant (splice acceptor variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +2 more	GPathogenic
Select item 593343	NM_002437.5(MPV17):c.376-9T>G	MPV17, TRIM54 +1 more	Single nucleotide variant (intron variant)	MPV17-related mitochondrial DNA maintenance defect +2 more	GPathogenic/Likely pathogenic
Select item 1469178	NM_002437.5(MPV17):c.375+2T>C	MPV17	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2094200	NM_002437.5(MPV17):c.375+1G>A	MPV17	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1994936	NM_002437.5(MPV17):c.375+1G>T	MPV17	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease, axonal, type 2EE +1 more	GLikely pathogenic
Select item 214664	NM_002437.5(MPV17):c.370C>T (p.Gln124Ter)	MPV17 (Q124*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease, axonal, type 2EE +1 more	GPathogenic/Likely pathogenic
Select item 16164	NM_002437.5(MPV17):c.359G>A (p.Trp120Ter)	MPV17 (W120*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +2 more	GPathogenic/Likely pathogenic
Select item 2676675	NM_002437.5(MPV17):c.354dup (p.Asn119fs)	MPV17 (N119fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease, axonal, type 2EE	GLikely pathogenic
Select item 2676673	NM_002437.5(MPV17):c.328_332del (p.Gly109_Ala110insTer)	MPV17	Deletion (nonsense)	Charcot-Marie-Tooth disease, axonal, type 2EE	GLikely pathogenic
Select item 3239745	NM_002437.5(MPV17):c.296_297del (p.Cys99fs)	MPV17 (C99fs)	Microsatellite (frameshift variant)	Charcot-Marie-Tooth disease, axonal, type 2EE	GLikely pathogenic
Select item 38355	NM_002437.5(MPV17):c.293C>T (p.Pro98Leu)	MPV17 (P98L)	Single nucleotide variant (missense variant)	MPV17-related disorder +4 more	GPathogenic
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 1810247	NM_002437.5(MPV17):c.280G>C (p.Gly94Arg)	MPV17 (G94R)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 2676671	NM_002437.5(MPV17):c.280-2del	MPV17	Deletion (splice acceptor variant)	Charcot-Marie-Tooth disease, axonal, type 2EE	GLikely pathogenic
Select item 38353	NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del)	MPV17 (L91del)	Microsatellite (inframe_deletion)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +3 more	GPathogenic/Likely pathogenic
Select item 38352	NM_002437.5(MPV17):c.260AGA[1] (p.Lys88del)	MPV17 (K88del)	Microsatellite (inframe_deletion)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +2 more	GPathogenic/Likely pathogenic
Select item 38348	NM_002437.5(MPV17):c.206G>A (p.Trp69Ter)	MPV17 (W69*)	Single nucleotide variant (nonsense)	MPV17-related mitochondrial DNA maintenance defect +3 more	GPathogenic/Likely pathogenic
Select item 381523	NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)	MPV17 (P64R)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome +3 more	GPathogenic/Likely pathogenic
Select item 38347	NM_002437.5(MPV17):c.186+2T>C	MPV17	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +2 more	GPathogenic/Likely pathogenic
Select item 939232	NM_002437.5(MPV17):c.179del (p.Gly60fs)	MPV17 (G60fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease, axonal, type 2EE +1 more	GPathogenic/Likely pathogenic
Select item 16160	NM_002437.5(MPV17):c.149G>A (p.Arg50Gln)	MPV17 (R50Q)	Single nucleotide variant (missense variant)	Mitochondrial disease +3 more	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 1071647	NM_002437.5(MPV17):c.139del (p.Gln47fs)	MPV17 (Q47fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease, axonal, type 2EE +1 more	GPathogenic/Likely pathogenic
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 626263	NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)	MPV17 (R41Q)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +3 more	GPathogenic/Likely pathogenic
Select item 214660	NM_002437.5(MPV17):c.121C>T (p.Arg41Trp)	MPV17 (R41W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2013271	NM_002437.5(MPV17):c.103C>T (p.Gln35Ter)	MPV17 (Q35*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2676676	NM_002437.5(MPV17):c.101C>G (p.Ser34Ter)	MPV17 (S34*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1480456	NM_002437.5(MPV17):c.71-1G>T	MPV17	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 3239746	NM_002437.5(MPV17):c.58del (p.Val20fs)	MPV17 (V20fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease, axonal, type 2EE	GLikely pathogenic
Select item 964822	NM_002437.5(MPV17):c.22C>T (p.Gln8Ter)	LOC129933372, MPV17 (Q8*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease, axonal, type 2EE +1 more	GPathogenic/Likely pathogenic

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Items: 41