Related gene-specific medical variations for Gene (Select 4358) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247508	NC_000002.11:g.(?_27535860)_(27539162_?)del	MPV17	Deletion	not provided	GPathogenic
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 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 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 2985253	NM_002437.5(MPV17):c.22del (p.Gln8fs)	LOC129933372, MPV17 (Q8fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2767283	NM_002437.5(MPV17):c.24G>A (p.Gln8=)	LOC129933372, MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 2676671	NM_002437.5(MPV17):c.280-2del	MPV17	Deletion (splice acceptor variant)	Charcot-Marie-Tooth disease, axonal, type 2EE	GLikely pathogenic
Select item 2433791	NM_002437.5(MPV17):c.1A>G (p.Met1Val)	LOC129933372, MPV17 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2183829	NM_002437.5(MPV17):c.21C>T (p.Tyr7=)	LOC129933372, MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1438571	NM_002437.5(MPV17):c.26G>A (p.Arg9Gln)	LOC129933372, MPV17 (R9Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1199479	NM_002437.5(MPV17):c.-5-35G>T	MPV17, LOC129933373	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1112659	NM_002437.5(MPV17):c.9C>G (p.Leu3=)	LOC129933372, MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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
Select item 676787	NM_002437.5(MPV17):c.-5-36C>T	LOC129933373, MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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

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Items: 24