ClinVar for MedGen (Select 482517) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246670	NC_000004.11:g.(?_39435810)_(39478735_?)dup	KLB, LIAS +1 more	Duplication	Lipoic acid synthetase deficiency	GUncertain significance
Select item 2988132	NM_006859.4(LIAS):c.551-16A>T	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2918897	NM_006859.4(LIAS):c.45+10G>A	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2908910	NM_006859.4(LIAS):c.1041T>C (p.Pro347=)	LIAS	Single nucleotide variant (synonymous variant +1 more)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2908369	NM_006859.4(LIAS):c.342T>C (p.Ile114=)	LIAS (L83S)	Single nucleotide variant (synonymous variant +1 more)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2902918	NM_006859.4(LIAS):c.834A>C (p.Ile278=)	LIAS	Single nucleotide variant (synonymous variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2881734	NM_006859.4(LIAS):c.93G>A (p.Leu31=)	LIAS	Single nucleotide variant (synonymous variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2854023	NM_006859.4(LIAS):c.838T>C (p.Leu280=)	LIAS	Single nucleotide variant (synonymous variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2850745	NM_006859.4(LIAS):c.367_389dup (p.Leu132fs)	LIAS (S99fs +2 more)	Duplication (frameshift variant)	Lipoic acid synthetase deficiency	GPathogenic
Select item 2841297	NM_006859.4(LIAS):c.45+19G>T	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2838766	NM_006859.4(LIAS):c.280A>T (p.Lys94Ter)	LIAS (K94*)	Single nucleotide variant (nonsense +1 more)	Lipoic acid synthetase deficiency	GPathogenic
Select item 2832243	NM_006859.4(LIAS):c.218+15G>A	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2823909	NM_006859.4(LIAS):c.954+18dup	LIAS	Duplication (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2818053	NM_006859.4(LIAS):c.46-13A>T	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2814833	NM_006859.4(LIAS):c.218+1G>A	LIAS	Single nucleotide variant (splice donor variant)	Lipoic acid synthetase deficiency	GLikely pathogenic
Select item 2812372	NM_006859.4(LIAS):c.313-7C>T	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2797807	NM_006859.4(LIAS):c.312+8G>T	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2796701	NM_006859.4(LIAS):c.480del (p.Tyr161fs)	LIAS (Y161fs)	Deletion (frameshift variant +1 more)	Lipoic acid synthetase deficiency	GPathogenic
Select item 2786842	NM_006859.4(LIAS):c.550+12A>G	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2783787	NM_006859.4(LIAS):c.1118A>G (p.Ter373=)	LIAS	Single nucleotide variant (synonymous variant +1 more)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2780730	NM_006859.4(LIAS):c.45+12G>A	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2758491	NM_006859.4(LIAS):c.600A>G (p.Leu200=)	LIAS	Single nucleotide variant (synonymous variant +1 more)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2749570	NM_006859.4(LIAS):c.218+7_218+13dup	LIAS	Duplication (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2748985	NM_006859.4(LIAS):c.954+11C>A	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2746800	NM_006859.4(LIAS):c.393+17C>T	LIAS (T137I)	Single nucleotide variant (missense variant +2 more)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2746571	NM_006859.4(LIAS):c.292C>A (p.Arg98=)	LIAS	Single nucleotide variant (synonymous variant +1 more)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2743557	NM_006859.4(LIAS):c.218+19T>C	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2743091	NM_006859.4(LIAS):c.1023T>C (p.His341=)	LIAS	Single nucleotide variant (synonymous variant +1 more)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2732789	NM_006859.4(LIAS):c.737+20A>T	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2731115	NM_006859.4(LIAS):c.291G>A (p.Leu97=)	LIAS	Single nucleotide variant (synonymous variant +1 more)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2729683	NM_006859.4(LIAS):c.588C>T (p.Thr196=)	LIAS	Single nucleotide variant (synonymous variant +1 more)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2710380	NM_006859.4(LIAS):c.725C>G (p.Pro242Arg)	LIAS (P139R +1 more)	Single nucleotide variant (missense variant +1 more)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 2708923	NM_006859.4(LIAS):c.954+9A>G	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2708636	NM_006859.4(LIAS):c.550+16T>C	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2425649	NC_000004.11:g.(?_39460510)_(39460802_?)dup	LIAS, RPL9	Duplication	Lipoic acid synthetase deficiency	GUncertain significance
Select item 2242435	NM_006859.4(LIAS):c.32C>G (p.Thr11Ser)	LIAS, LOC112939935 (T11S)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency +1 more	GUncertain significance
Select item 2196741	NM_006859.4(LIAS):c.313-14C>T	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2192483	NM_006859.4(LIAS):c.790C>T (p.His264Tyr)	LIAS (H161Y +2 more)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 2166166	NM_006859.4(LIAS):c.313-6A>G	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2165560	NM_006859.4(LIAS):c.107dup (p.Glu37fs)	LIAS (E37fs)	Duplication (frameshift variant)	Lipoic acid synthetase deficiency	GPathogenic
Select item 2163708	NM_006859.4(LIAS):c.191G>A (p.Gly64Glu)	LIAS (G64E)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 2163648	NM_006859.4(LIAS):c.5C>T (p.Ser2Phe)	LIAS, LOC112939935 (S2F)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 2160602	NM_006859.4(LIAS):c.604G>A (p.Glu202Lys)	LIAS (E202K)	Single nucleotide variant (missense variant +1 more)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 2157442	NM_006859.4(LIAS):c.58T>C (p.Tyr20His)	LIAS (Y20H)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 2153687	NM_006859.4(LIAS):c.1112A>T (p.Asp371Val)	LIAS (D328V +2 more)	Single nucleotide variant (missense variant +1 more)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 2148667	NM_006859.4(LIAS):c.1066+16G>A	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2142276	NM_006859.4(LIAS):c.170G>C (p.Ser57Thr)	LIAS (S57T)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 2130933	NM_006859.4(LIAS):c.275A>C (p.Lys92Thr)	LIAS (K92T)	Single nucleotide variant (missense variant +1 more)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 2120654	NM_006859.4(LIAS):c.4T>C (p.Ser2Pro)	LIAS, LOC112939935 (S2P)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 2117939	NM_006859.4(LIAS):c.1098A>G (p.Lys366=)	LIAS	Single nucleotide variant (synonymous variant +1 more)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2106100	NM_006859.4(LIAS):c.596A>G (p.Tyr199Cys)	LIAS (Y199C)	Single nucleotide variant (missense variant +1 more)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 2095295	NM_006859.4(LIAS):c.1066+12T>C	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2094996	NM_006859.4(LIAS):c.737+6dup	LIAS	Duplication (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2093183	NM_006859.4(LIAS):c.1067-15C>G	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2091903	NM_006859.4(LIAS):c.827C>T (p.Thr276Ile)	LIAS (T233I +2 more)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 2091534	NM_006859.4(LIAS):c.748G>A (p.Asp250Asn)	LIAS (D207N +2 more)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 2089916	NM_006859.4(LIAS):c.166A>C (p.Arg56=)	LIAS	Single nucleotide variant (synonymous variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2089664	NM_006859.4(LIAS):c.955-3T>G	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 2083717	NM_006859.4(LIAS):c.341T>C (p.Ile114Thr)	LIAS (I114T)	Single nucleotide variant (missense variant +1 more)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 2079802	NM_006859.4(LIAS):c.45+18C>T	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2071097	NM_006859.4(LIAS):c.28C>T (p.Arg10Cys)	LIAS, LOC112939935 (R10C)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 2056353	NM_006859.4(LIAS):c.219-6C>T	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2046965	NM_006859.4(LIAS):c.410G>A (p.Cys137Tyr)	LIAS (C137Y)	Single nucleotide variant (missense variant +1 more)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 2046954	NM_006859.4(LIAS):c.359_364del (p.Gly120_Gly121del)	LIAS	Deletion (inframe_deletion)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 2036213	NM_006859.4(LIAS):c.954+20C>G	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2031515	NM_006859.4(LIAS):c.975T>C (p.Pro325=)	LIAS	Single nucleotide variant (synonymous variant +1 more)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2028196	NM_006859.4(LIAS):c.801G>A (p.Lys267=)	LIAS	Single nucleotide variant (synonymous variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2016983	NM_006859.4(LIAS):c.1066+19C>T	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2016578	NM_006859.4(LIAS):c.955-11T>C	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2015997	NM_006859.4(LIAS):c.287C>G (p.Thr96Ser)	LIAS (T96S)	Single nucleotide variant (missense variant +1 more)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 2015477	NM_006859.4(LIAS):c.1068T>G (p.Gly356=)	LIAS (V319G)	Single nucleotide variant (synonymous variant +1 more)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2014770	NM_006859.4(LIAS):c.120G>A (p.Gln40=)	LIAS	Single nucleotide variant (synonymous variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2009192	NM_006859.4(LIAS):c.231T>C (p.Pro77=)	LIAS	Single nucleotide variant (synonymous variant +1 more)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2006471	NM_006859.4(LIAS):c.632G>T (p.Cys211Phe)	LIAS (C211F +1 more)	Single nucleotide variant (missense variant +1 more)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 2005335	NM_006859.4(LIAS):c.130del (p.Asp44fs)	LIAS (D44fs)	Deletion (frameshift variant)	Lipoic acid synthetase deficiency	GPathogenic
Select item 2003027	NM_006859.4(LIAS):c.313-19C>T	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 2002454	NM_006859.4(LIAS):c.770A>G (p.Gln257Arg)	LIAS (Q154R +2 more)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 2000557	NM_006859.4(LIAS):c.1113C>T (p.Asp371=)	LIAS	Single nucleotide variant (synonymous variant +1 more)	Lipoic acid synthetase deficiency	GLikely benign
Select item 1999333	NM_006859.4(LIAS):c.608+7A>C	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 1996816	NM_006859.4(LIAS):c.955-7A>T	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 1995873	NM_006859.4(LIAS):c.218+14T>A	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 1993775	NM_006859.4(LIAS):c.1096A>C (p.Lys366Gln)	LIAS (K263Q +2 more)	Single nucleotide variant (missense variant +1 more)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1989533	NM_006859.4(LIAS):c.925T>C (p.Tyr309His)	LIAS (Y266H +2 more)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1984621	NM_006859.4(LIAS):c.609-13C>T	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 1983209	NM_006859.4(LIAS):c.963A>G (p.Glu321=)	LIAS	Single nucleotide variant (synonymous variant +1 more)	Lipoic acid synthetase deficiency	GLikely benign
Select item 1977507	NM_006859.4(LIAS):c.550+11C>T	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 1967803	NM_006859.4(LIAS):c.222A>C (p.Leu74Phe)	LIAS (L74F)	Single nucleotide variant (missense variant +1 more)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1963932	NM_006859.4(LIAS):c.694G>C (p.Asp232His)	LIAS (D232H +1 more)	Single nucleotide variant (missense variant +1 more)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1959529	NM_006859.4(LIAS):c.714A>G (p.Val238=)	LIAS	Single nucleotide variant (synonymous variant +1 more)	Lipoic acid synthetase deficiency	GLikely benign
Select item 1956617	NM_006859.4(LIAS):c.1066+18G>T	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 1955724	NM_006859.4(LIAS):c.315A>G (p.Val105=)	LIAS (Y74C)	Single nucleotide variant (synonymous variant +1 more)	Lipoic acid synthetase deficiency	GLikely benign
Select item 1953171	NM_006859.4(LIAS):c.883+10T>C	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 1952263	NM_006859.4(LIAS):c.659T>C (p.Leu220Pro)	LIAS (L117P +1 more)	Single nucleotide variant (missense variant +1 more)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1949337	NM_006859.4(LIAS):c.673A>G (p.Lys225Glu)	LIAS (K225E +1 more)	Single nucleotide variant (missense variant +1 more)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1943547	NM_006859.4(LIAS):c.566_567delinsTT (p.Gly189Val)	LIAS (G189V)	Indel (missense variant +1 more)	Lipoic acid synthetase deficiency +1 more	GUncertain significance
Select item 1933238	NM_006859.4(LIAS):c.26C>T (p.Ala9Val)	LIAS, LOC112939935 (A9V)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1907293	NM_006859.4(LIAS):c.499A>G (p.Ile167Val)	LIAS (I167V)	Single nucleotide variant (missense variant +1 more)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1905864	NM_006859.4(LIAS):c.511G>A (p.Gly171Ser)	LIAS (G171S)	Single nucleotide variant (missense variant +1 more)	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1905807	NM_006859.4(LIAS):c.924A>G (p.Gln308=)	LIAS	Single nucleotide variant (synonymous variant)	Lipoic acid synthetase deficiency	GLikely benign
Select item 1669879	NM_006859.4(LIAS):c.46-17A>G	LIAS	Single nucleotide variant (intron variant)	Lipoic acid synthetase deficiency	GLikely benign

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