ClinVar for MedGen (Select 90994) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	AUH-related condition +2 more	GLikely benign
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 (5 prime UTR variant +1 more)	Inborn genetic diseases +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)	LOC130002059, AUH (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	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)	3-methylglutaconic aciduria type 1	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 (5 prime UTR 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 (5 prime UTR 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 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
Select item 1584881	NM_001698.3(AUH):c.843+13A>G	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 1584828	NM_001698.3(AUH):c.804C>T (p.Tyr268=)	AUH	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 1569584	NM_001698.3(AUH):c.263-15T>C	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 1550578	NM_001698.3(AUH):c.506-9C>T	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 1545013	NM_001698.3(AUH):c.330+9A>G	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 1525844	NM_001698.3(AUH):c.499G>A (p.Asp167Asn)	AUH (D58N +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1517551	NM_001698.3(AUH):c.25C>G (p.Pro9Ala)	AUH, LOC130002059 (P9A)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1510237	NM_001698.3(AUH):c.797C>T (p.Ala266Val)	AUH (A157V +2 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1502360	NM_001698.3(AUH):c.736A>G (p.Lys246Glu)	AUH (K217E +2 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1502193	NM_001698.3(AUH):c.690G>A (p.Met230Ile)	AUH (M121I +2 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1501633	NM_001698.3(AUH):c.243C>G (p.His81Gln)	AUH (H81Q)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1499518	NM_001698.3(AUH):c.476C>G (p.Ser159Cys)	AUH (S50C +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1490500	NM_001698.3(AUH):c.385A>G (p.Ile129Val)	AUH (I129V +1 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1486765	NM_001698.3(AUH):c.850G>A (p.Val284Ile)	AUH (V284I +2 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1 +1 more	GUncertain significance
Select item 1483517	NM_001698.3(AUH):c.430A>G (p.Lys144Glu)	AUH (K35E +1 more)	Single nucleotide variant (intron variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1481020	NM_001698.3(AUH):c.350C>T (p.Ala117Val)	AUH (A8V +1 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1473536	NM_001698.3(AUH):c.833T>C (p.Phe278Ser)	AUH (F278S +2 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1460740	NM_001698.3(AUH):c.860G>C (p.Arg287Thr)	AUH (R178T +2 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1452715	NM_001698.3(AUH):c.721C>T (p.Arg241Ter)	AUH (R212* +2 more)	Single nucleotide variant (nonsense)	3-methylglutaconic aciduria type 1	GPathogenic
Select item 1448014	NM_001698.3(AUH):c.305C>T (p.Ser102Leu)	AUH (S102L)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1444539	NC_000009.12:g.91220993dup	AUH	Duplication	3-methylglutaconic aciduria type 1	GPathogenic
Select item 1444069	NM_001698.3(AUH):c.998C>T (p.Pro333Leu)	AUH (P224L +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1443635	NM_001698.3(AUH):c.926A>C (p.Glu309Ala)	AUH (E280A +2 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1 +1 more	GUncertain significance
Select item 1428376	NM_001698.3(AUH):c.656G>C (p.Gly219Ala)	AUH (G110A +2 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1	GUncertain significance

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