"GeneDx"[submitter] AND "MPV17"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 387355	NM_002437.5(MPV17):c.*12T>G	MPV17	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 388884	NM_002437.5(MPV17):c.*11C>G	MPV17	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1693807	NM_002437.5(MPV17):c.524G>A (p.Arg175Gln)	MPV17 (R175Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 1188256	NM_002437.5(MPV17):c.462-267T>G	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300476	NM_002437.5(MPV17):c.461+173C>T	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197196	NM_002437.5(MPV17):c.461+40C>T	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 392498	NM_002437.5(MPV17):c.461+17C>A	MPV17	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 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 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 2375389	NM_002437.5(MPV17):c.407A>G (p.Tyr136Cys)	MPV17 (Y136C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1249078	NM_002437.5(MPV17):c.375+48dup	MPV17	Duplication (intron variant)	not provided	GBenign
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 1800625	NM_002437.5(MPV17):c.374G>A (p.Arg125Gln)	MPV17 (R125Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 335526	NM_002437.5(MPV17):c.373C>T (p.Arg125Trp)	MPV17 (R125W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, type 2EE +3 more	GUncertain significance
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 1327811	NM_002437.5(MPV17):c.301C>G (p.Leu101Val)	MPV17 (L101V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 384892	NM_002437.5(MPV17):c.294G>A (p.Pro98=)	MPV17	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 694362	NM_002437.5(MPV17):c.278A>C (p.Gln93Pro)	MPV17 (Q93P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 392127	NM_002437.5(MPV17):c.275A>C (p.Asp92Ala)	MPV17 (D92A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 283585	NM_002437.5(MPV17):c.239C>T (p.Thr80Ile)	MPV17 (T80I)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 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 16162	NM_002437.5(MPV17):c.148C>T (p.Arg50Trp)	MPV17 (R50W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 195172	NM_002437.5(MPV17):c.27G>T (p.Arg9=)	MPV17	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +3 more	GConflicting classifications of pathogenicity
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 214659	NM_002437.5(MPV17):c.-5-18C>G	LOC129933372, MPV17	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1199479	NM_002437.5(MPV17):c.-5-35G>T	MPV17, LOC129933373	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676787	NM_002437.5(MPV17):c.-5-36C>T	LOC129933373, MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 509069	NM_002437.5(MPV17):c.-12C>T	MPV17	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 38