4358[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	ABHD1, ADCY3 +321 more	Copy number loss	See cases	GPathogenic
Select item 16166	NG_008075.1(MPV17):g.16680_18253delinsCCTG	MPV17	Indel	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 2672805	NM_002437.5(MPV17):c.462-18_*60del	MPV17	Deletion (splice acceptor variant)	not provided	GPathogenic
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 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 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 388884	NM_002437.5(MPV17):c.*11C>G	MPV17	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 3047100	NM_002437.5(MPV17):c.*9C>T	MPV17	Single nucleotide variant (3 prime UTR variant)	MPV17-related condition	GLikely benign
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 594944	NM_002437.5(MPV17):c.523C>T (p.Arg175Trp)	MPV17 (R175W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 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 1575969	NM_002437.5(MPV17):c.498C>T (p.Asn166=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 598167	NM_002437.5(MPV17):c.469G>A (p.Val157Ile)	MPV17 (V157I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3051627	NM_002437.5(MPV17):c.468C>G (p.Ala156=)	MPV17	Single nucleotide variant (synonymous variant)	MPV17-related condition	GLikely benign
Select item 2147218	NM_002437.5(MPV17):c.468C>T (p.Ala156=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1188256	NM_002437.5(MPV17):c.462-267T>G	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2650765	NM_002437.5(MPV17):c.461+261T>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 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 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 2203027	NM_002437.5(MPV17):c.461+1G>C	MPV17	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
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 289194	NM_002437.5(MPV17):c.461G>C (p.Arg154Thr)	MPV17 (R154T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 635346	NM_002437.5(MPV17):c.414dup (p.Pro139fs)	MPV17 (P139fs)	Duplication (frameshift variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GPathogenic
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 289822	NM_002437.5(MPV17):c.409-1G>C	MPV17	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3054799	NM_002437.5(MPV17):c.409-3C>T	MPV17	Single nucleotide variant (intron variant)	MPV17-related condition	GLikely benign
Select item 198482	NM_002437.5(MPV17):c.409-7C>T	MPV17	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 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 2375389	NM_002437.5(MPV17):c.407A>G (p.Tyr136Cys)	MPV17 (Y136C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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