"Invitae"[submitter] AND "MPV17"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1947519	NM_002437.5(MPV17):c.528C>T (p.Leu176=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179934	NM_002437.5(MPV17):c.527T>C (p.Leu176Pro)	MPV17 (L176P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2002906	NM_002437.5(MPV17):c.524G>C (p.Arg175Pro)	MPV17 (R175P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1157379	NM_002437.5(MPV17):c.523C>A (p.Arg175=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1665671	NM_002437.5(MPV17):c.519A>G (p.Ala173=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1364941	NM_002437.5(MPV17):c.516G>A (p.Lys172=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 2794388	NM_002437.5(MPV17):c.507G>C (p.Leu169=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1575969	NM_002437.5(MPV17):c.498C>T (p.Asn166=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1530916	NM_002437.5(MPV17):c.480T>C (p.Cys160=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2415008	NM_002437.5(MPV17):c.477del (p.Gln159fs)	MPV17 (Q159fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2147218	NM_002437.5(MPV17):c.468C>T (p.Ala156=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1621917	NM_002437.5(MPV17):c.462-5del	MPV17	Deletion (intron variant)	not provided	GLikely benign
Select item 1567340	NM_002437.5(MPV17):c.462-6C>T	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1086563	NM_002437.5(MPV17):c.462-9G>C	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985747	NM_002437.5(MPV17):c.462-14T>C	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795369	NM_002437.5(MPV17):c.462-18_462-17del	MPV17	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2814542	NM_002437.5(MPV17):c.462-18G>A	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2170585	NM_002437.5(MPV17):c.462-21_462-20inv	MPV17	Inversion (intron variant)	not provided	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 1966364	NM_002437.5(MPV17):c.461+20C>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 specified +1 more	GLikely benign
Select item 1949342	NM_002437.5(MPV17):c.461+16A>C	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2754305	NM_002437.5(MPV17):c.461+15T>C	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1597918	NM_002437.5(MPV17):c.461+9C>T	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1533281	NM_002437.5(MPV17):c.461+8G>A	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2203027	NM_002437.5(MPV17):c.461+1G>C	MPV17	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1557894	NM_002437.5(MPV17):c.459C>T (p.Tyr153=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1641209	NM_002437.5(MPV17):c.456T>C (p.His152=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955132	NM_002437.5(MPV17):c.454C>T (p.His152Tyr)	MPV17 (H152Y)	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)	Charcot-Marie-Tooth disease, axonal, type 2EE +2 more	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 596891	NM_002437.5(MPV17):c.450C>T (p.Pro150=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1554914	NM_002437.5(MPV17):c.447C>T (p.Val149=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 763944	NM_002437.5(MPV17):c.447C>A (p.Val149=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1659231	NM_002437.5(MPV17):c.438C>T (p.Phe146=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796341	NM_002437.5(MPV17):c.435C>T (p.Asn145=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2188532	NM_002437.5(MPV17):c.432C>G (p.Ala144=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 2864843	NM_002437.5(MPV17):c.423G>A (p.Val141=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864274	NM_002437.5(MPV17):c.423G>T (p.Val141=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966533	NM_002437.5(MPV17):c.411A>G (p.Leu137=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2072326	NM_002437.5(MPV17):c.411A>T (p.Leu137=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1613366	NM_002437.5(MPV17):c.409-8T>C	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 751803	NM_002437.5(MPV17):c.409-10T>G	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836240	NM_002437.5(MPV17):c.409-15C>T	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1962762	NM_002437.5(MPV17):c.408+16T>C	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832851	NM_002437.5(MPV17):c.408+15C>G	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1135275	NM_002437.5(MPV17):c.408+9T>C	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1958485	NM_002437.5(MPV17):c.408+7G>C	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2171446	NM_002437.5(MPV17):c.408+4A>C	MPV17	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2816783	NM_002437.5(MPV17):c.405C>T (p.Tyr135=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1339934	NM_002437.5(MPV17):c.405C>G (p.Tyr135Ter)	MPV17 (Y135*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 1634404	NM_002437.5(MPV17):c.402C>T (p.Asn134=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1111103	NM_002437.5(MPV17):c.396C>T (p.Ile132=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1135228	NM_002437.5(MPV17):c.393T>C (p.Leu131=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1420339	NM_002437.5(MPV17):c.391del (p.Ile132fs)	MPV17 (I132fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 1090128	NM_002437.5(MPV17):c.381T>C (p.Tyr127=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1083977	NM_002437.5(MPV17):c.378T>C (p.Asp126=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 755343	NM_002437.5(MPV17):c.376-6C>T	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
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	GConflicting classifications of pathogenicity
Select item 2907130	NM_002437.5(MPV17):c.376-12C>T	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777744	NM_002437.5(MPV17):c.376-16T>G	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2707801	NM_002437.5(MPV17):c.376-18C>T	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1588967	NM_002437.5(MPV17):c.376-18C>A	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014737	NM_002437.5(MPV17):c.376-19T>C	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787086	NM_002437.5(MPV17):c.375+19G>A	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2139888	NM_002437.5(MPV17):c.375+18G>A	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880254	NM_002437.5(MPV17):c.375+13G>A	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2075973	NM_002437.5(MPV17):c.375+6C>T	MPV17	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1469178	NM_002437.5(MPV17):c.375+2T>C	MPV17	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease, axonal, type 2EE +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)	not provided +1 more	GLikely pathogenic
Select item 1999988	NM_002437.5(MPV17):c.374delinsAT (p.Arg125fs)	MPV17 (R125fs)	Indel (frameshift variant)	not provided	GPathogenic
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)	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) +2 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 1557500	NM_002437.5(MPV17):c.369A>G (p.Leu123=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971495	NM_002437.5(MPV17):c.363C>T (p.Ala121=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812985	NM_002437.5(MPV17):c.360G>A (p.Trp120Ter)	MPV17 (W120*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 1653285	NM_002437.5(MPV17):c.357C>T (p.Asn119=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897837	NM_002437.5(MPV17):c.327G>A (p.Gly109=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2119785	NM_002437.5(MPV17):c.324A>G (p.Val108=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1133961	NM_002437.5(MPV17):c.321G>T (p.Leu107=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986830	NM_002437.5(MPV17):c.310T>A (p.Phe104Ile)	MPV17 (F104I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933688	NM_002437.5(MPV17):c.306C>T (p.Gly102=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 716282	NM_002437.5(MPV17):c.301C>T (p.Leu101=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179672	NM_002437.5(MPV17):c.294G>T (p.Pro98=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 384892	NM_002437.5(MPV17):c.294G>A (p.Pro98=)	MPV17	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2888969	NM_002437.5(MPV17):c.293C>A (p.Pro98Gln)	MPV17 (P98Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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

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