ClinVar for Gene (Select 549) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382011	NM_001698.3(AUH):c.612_613insC (p.Met205fs)	AUH (M176fs +2 more)	Insertion (frameshift variant)	3-methylglutaconic aciduria type 1	GLikely pathogenic
Select item 3359774	NM_001698.3(AUH):c.830_831del (p.Glu277fs)	AUH (E168fs +2 more)	Microsatellite (frameshift variant)	3-Methylglutaconic aciduria +1 more	GPathogenic/Likely pathogenic
Select item 3359633	NM_001698.3(AUH):c.862G>A (p.Val288Met)	AUH (V179M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3333476	NM_001698.3(AUH):c.366G>T (p.Lys122Asn)	AUH (K13N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132330	NM_001698.3(AUH):c.685G>C (p.Gly229Arg)	AUH (G120R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132329	NM_001698.3(AUH):c.62G>T (p.Arg21Leu)	AUH, LOC130002059 (R21L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3132328	NM_001698.3(AUH):c.59C>T (p.Ala20Val)	AUH, LOC130002059 (A20V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3132327	NM_001698.3(AUH):c.590G>A (p.Arg197Gln)	AUH (R168Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132326	NM_001698.3(AUH):c.38G>A (p.Gly13Glu)	AUH, LOC130002059 (G13E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3004570	NM_001698.3(AUH):c.419-2A>G	AUH	Single nucleotide variant (intron variant +1 more)	3-methylglutaconic aciduria type 1	GPathogenic
Select item 2998405	NM_001698.3(AUH):c.263-10C>T	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2977770	NM_001698.3(AUH):c.573T>A (p.Ala191=)	AUH	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2977090	NM_001698.3(AUH):c.505+7A>G	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2961953	NM_001698.3(AUH):c.897C>T (p.Val299=)	AUH	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2919486	NM_001698.3(AUH):c.96G>A (p.Pro32=)	AUH, LOC130002059	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2918231	NM_001698.3(AUH):c.153C>T (p.Ala51=)	AUH, LOC130002059	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2902562	NM_001698.3(AUH):c.331-14C>T	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2890726	NM_001698.3(AUH):c.768C>T (p.His256=)	AUH	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2883858	NM_001698.3(AUH):c.342T>C (p.Ala114=)	AUH	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2812871	NM_001698.3(AUH):c.471del (p.Phe157fs)	AUH (F157fs +1 more)	Deletion (frameshift variant +1 more)	3-methylglutaconic aciduria type 1	GPathogenic
Select item 2802918	NM_001698.3(AUH):c.516dup (p.Val173fs)	AUH (V173fs +2 more)	Duplication (frameshift variant)	3-methylglutaconic aciduria type 1	GPathogenic
Select item 2792608	NM_001698.3(AUH):c.12G>A (p.Ala4=)	AUH, LOC130002059	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2779884	NM_001698.3(AUH):c.505+18C>G	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2771858	NM_001698.3(AUH):c.231G>C (p.Leu77=)	AUH, LOC130002059	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2738626	NM_001698.3(AUH):c.656-17T>G	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2726026	NM_001698.3(AUH):c.506-6T>C	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2726018	NM_001698.3(AUH):c.546C>T (p.Leu182=)	AUH	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2715115	NM_001698.3(AUH):c.66G>C (p.Leu22=)	AUH, LOC130002059	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2694466	NM_001698.3(AUH):c.738A>G (p.Lys246=)	AUH	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2691441	NC_000009.11:g.(94060359_94087599)_(94087687_94118164)del	AUH	Deletion	not specified	GUncertain significance
Select item 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 2664514	NM_001698.3(AUH):c.491T>A (p.Val164Glu)	AUH (V164E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2623366	NM_001698.3(AUH):c.766C>T (p.His256Tyr)	AUH (H256Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610628	NM_001698.3(AUH):c.83C>T (p.Ala28Val)	AUH, LOC130002059 (A28V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607883	NM_001698.3(AUH):c.162G>C (p.Trp54Cys)	AUH, LOC130002059 (W54C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2444710	NM_001698.3(AUH):c.674C>T (p.Pro225Leu)	AUH (P116L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439423	NM_001698.3(AUH):c.1A>G (p.Met1Val)	AUH, LOC130002059 (M1V)	Single nucleotide variant (missense variant +2 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 2424218	NC_000009.11:g.(?_94058283)_(94538120_?)dup	AUH, NFIL3 +1 more	Duplication	not provided	GUncertain significance
Select item 2424217	NC_000009.11:g.(?_94118145)_(94118457_?)del	AUH	Deletion	3-methylglutaconic aciduria type 1	GLikely pathogenic
Select item 2418823	NM_001698.3(AUH):c.197G>C (p.Gly66Ala)	AUH, LOC130002059 (G66A)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 2413627	NM_001698.3(AUH):c.174C>T (p.Ala58=)	AUH, LOC130002059	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2222210	NM_001698.3(AUH):c.221A>C (p.Glu74Ala)	AUH, LOC130002059 (E74A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211091	NM_001698.3(AUH):c.479A>C (p.Lys160Thr)	AUH (K160T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2199609	NM_001698.3(AUH):c.943-16A>G	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2195690	NM_001698.3(AUH):c.20C>A (p.Ala7Glu)	AUH, LOC130002059 (A7E)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 2186555	NM_001698.3(AUH):c.408A>G (p.Ile136Met)	AUH (I27M +1 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 2185451	NM_001698.3(AUH):c.498C>T (p.Asn166=)	AUH	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2185263	NM_001698.3(AUH):c.262+10G>A	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2180757	NM_001698.3(AUH):c.23C>T (p.Ala8Val)	AUH, LOC130002059 (A8V)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1 +1 more	GUncertain significance
Select item 2169245	NM_001698.3(AUH):c.655+11T>A	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2166663	NM_001698.3(AUH):c.997C>A (p.Pro333Thr)	AUH (P224T +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 2166341	NM_001698.3(AUH):c.156G>C (p.Gln52His)	AUH, LOC130002059 (Q52H)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 2158343	NM_001698.3(AUH):c.341C>G (p.Ala114Gly)	AUH (A114G +1 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 2151589	NM_001698.3(AUH):c.809A>G (p.Lys270Arg)	AUH (K270R +2 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1 +1 more	GUncertain significance
Select item 2149870	NM_001698.3(AUH):c.419G>T (p.Gly140Val)	AUH (G140V +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 2145672	NM_001698.3(AUH):c.973C>G (p.Leu325Val)	AUH (L216V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2141578	NM_001698.3(AUH):c.980C>G (p.Ala327Gly)	AUH (A202G +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 2131366	NM_001698.3(AUH):c.262+8G>A	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 2119518	NM_001698.3(AUH):c.506-8C>T	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2117268	NM_001698.3(AUH):c.498C>G (p.Asn166Lys)	AUH (N57K +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 2092983	NM_001698.3(AUH):c.445A>G (p.Met149Val)	AUH (M149V +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 2091890	NM_001698.3(AUH):c.466C>T (p.Pro156Ser)	AUH (P47S +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 2085938	NM_001698.3(AUH):c.107T>C (p.Leu36Pro)	AUH, LOC130002059 (L36P)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 2056209	NM_001698.3(AUH):c.599-7G>A	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2055032	NM_001698.3(AUH):c.204C>G (p.Ser68Arg)	AUH, LOC130002059 (S68R)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 2051724	NM_001698.3(AUH):c.825G>A (p.Ala275=)	AUH	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2044238	NM_001698.3(AUH):c.215_217dup (p.Lys72_Thr73insLys)	AUH, LOC130002059	Duplication (inframe_insertion +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 2021678	NM_001698.3(AUH):c.996G>A (p.Arg332=)	AUH	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2002874	NM_001698.3(AUH):c.780G>C (p.Gln260His)	AUH (Q151H +2 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1989657	NM_001698.3(AUH):c.526A>G (p.Ile176Val)	AUH (I176V +2 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1982159	NM_001698.3(AUH):c.419-5T>G	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1981518	NM_001698.3(AUH):c.740A>C (p.Glu247Ala)	AUH (E138A +2 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1979155	NM_001698.3(AUH):c.677G>A (p.Arg226His)	AUH (R117H +2 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1976807	NM_001698.3(AUH):c.39dup (p.Ser14fs)	AUH, LOC130002059 (S14fs)	Duplication (frameshift variant +1 more)	3-methylglutaconic aciduria type 1	GPathogenic
Select item 1975072	NM_001698.3(AUH):c.655+3A>T	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1968389	NM_001698.3(AUH):c.382A>G (p.Ile128Val)	AUH (I128V +1 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1949148	NM_001698.3(AUH):c.10G>A (p.Ala4Thr)	AUH, LOC130002059 (A4T)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1935413	NM_001698.3(AUH):c.331-20T>A	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1925335	NM_001698.3(AUH):c.331-12A>G	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 1905499	NM_001698.3(AUH):c.658G>C (p.Gly220Arg)	AUH (G191R +2 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1905352	NM_001698.3(AUH):c.47A>G (p.His16Arg)	AUH, LOC130002059 (H16R)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1903602	NM_001698.3(AUH):c.467C>G (p.Pro156Arg)	AUH (P156R +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1903595	NM_001698.3(AUH):c.12G>C (p.Ala4=)	AUH, LOC130002059	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 1895705	NM_001698.3(AUH):c.232C>T (p.Arg78Trp)	AUH, LOC130002059 (R78W)	Single nucleotide variant (5 prime UTR variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1800787	NM_001698.3(AUH):c.369A>G (p.Lys123=)	AUH	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1695255	NM_001698.3(AUH):c.825G>C (p.Ala275=)	AUH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1686747	NM_001698.3(AUH):c.285_287delinsTTCCA (p.Arg96fs)	AUH (R96fs)	Indel (frameshift variant +1 more)	not provided	GPathogenic
Select item 1661301	NM_001698.3(AUH):c.894+14dup	AUH	Duplication (intron variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 1643925	NM_001698.3(AUH):c.943-6del	AUH	Deletion (intron variant)	3-methylglutaconic aciduria type 1	GBenign
Select item 1626153	NM_001698.3(AUH):c.330+13A>T	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 1623319	NM_001698.3(AUH):c.656-8C>T	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 1607345	NM_001698.3(AUH):c.598+11A>T	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 1603574	NM_001698.3(AUH):c.598+9_598+12del	AUH	Deletion (intron variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 1600743	NM_001698.3(AUH):c.895-9del	AUH	Deletion (intron variant)	3-methylglutaconic aciduria type 1	GBenign
Select item 1594911	NM_001698.3(AUH):c.943-6T>C	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1	GBenign
Select item 1591669	NM_001698.3(AUH):c.714C>T (p.Phe238=)	AUH	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 1588231	NM_001698.3(AUH):c.894+19G>C	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1	GLikely benign

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