"GeneDx"[submitter] AND "LIAS"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1242166	NC_000004.12:g.39458708G>A	LIAS, RPL9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224751	NC_000004.12:g.39458732C>G	LIAS, RPL9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204365	NC_000004.12:g.39458793C>A	RPL9, LIAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294864	NC_000004.12:g.39458870C>G	LIAS, LOC112939935 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300810	NC_000004.12:g.39458888T>C	LIAS, LOC112939935 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232707	NC_000004.12:g.39458952G>A	LIAS, LOC112939935	Single nucleotide variant	not provided	GBenign
Select item 379118	NM_006859.4(LIAS):c.-45T>C	LIAS, LOC112939935	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 138120	NM_006859.4(LIAS):c.-35C>T	LIAS, LOC112939935	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 138121	NM_006859.4(LIAS):c.-32A>T	LIAS, LOC112939935	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 378083	NM_006859.4(LIAS):c.-29C>T	LIAS, LOC112939935	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 518144	NM_006859.4(LIAS):c.-12C>T	LIAS, LOC112939935	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 597605	NM_006859.4(LIAS):c.-1A>G	LIAS, LOC112939935	Single nucleotide variant (5 prime UTR variant)	not provided	GConflicting classifications of pathogenicity
Select item 859054	NM_006859.4(LIAS):c.20A>T (p.Asp7Val)	LIAS, LOC112939935 (D7V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1362885	NM_006859.4(LIAS):c.25G>T (p.Ala9Ser)	LIAS, LOC112939935 (A9S)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency +1 more	GUncertain significance
Select item 597822	NM_006859.4(LIAS):c.45+15G>A	LIAS	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 674516	NM_006859.4(LIAS):c.45+161C>T	LIAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237935	NM_006859.4(LIAS):c.46-238dup	LIAS	Duplication (intron variant)	not provided	GBenign
Select item 1205675	NM_006859.4(LIAS):c.46-239_46-238dup	LIAS	Duplication (intron variant)	not provided	GLikely benign
Select item 1296846	NM_006859.4(LIAS):c.46-238del	LIAS	Deletion (intron variant)	not provided	GBenign
Select item 378084	NM_006859.4(LIAS):c.57A>C (p.Arg19Ser)	LIAS (R19S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 472880	NM_006859.4(LIAS):c.60T>C (p.Tyr20=)	LIAS	Single nucleotide variant (synonymous variant)	Lipoic acid synthetase deficiency +1 more	GLikely benign
Select item 206043	NM_006859.4(LIAS):c.89C>T (p.Ser30Phe)	LIAS (S30F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 817587	NM_006859.4(LIAS):c.99dup (p.Lys34Ter)	LIAS (K34*)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 1076367	NM_006859.4(LIAS):c.100A>T (p.Lys34Ter)	LIAS (K34*)	Single nucleotide variant (nonsense)	Lipoic acid synthetase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1013491	NM_006859.4(LIAS):c.114C>G (p.Leu38=)	LIAS	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 206044	NM_006859.4(LIAS):c.122A>G (p.Asn41Ser)	LIAS (N41S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 540092	NM_006859.4(LIAS):c.129A>G (p.Pro43=)	LIAS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 206046	NM_006859.4(LIAS):c.217del (p.Arg73fs)	LIAS (R73fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 670852	NM_006859.4(LIAS):c.218+29G>A	LIAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214229	NM_006859.4(LIAS):c.218+43T>C	LIAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 523916	NM_006859.4(LIAS):c.277del (p.Lys92_Leu93insTer)	LIAS	Deletion (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 206035	NM_006859.4(LIAS):c.297T>C (p.Asn99=)	LIAS	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 138118	NM_006859.4(LIAS):c.306C>A (p.Leu102=)	LIAS	Single nucleotide variant (synonymous variant +1 more)	Lipoic acid synthetase deficiency +2 more	GBenign
Select item 1208047	NM_006859.4(LIAS):c.312+168A>C	LIAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673314	NM_006859.4(LIAS):c.313-152C>A	LIAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 512923	NM_006859.4(LIAS):c.387G>A (p.Thr129=)	LIAS (R98Q)	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 384227	NM_006859.4(LIAS):c.393+4G>A	LIAS (G133R)	Single nucleotide variant (missense variant +2 more)	Lipoic acid synthetase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 138119	NM_006859.4(LIAS):c.393+10G>A	LIAS (A135T)	Single nucleotide variant (missense variant +2 more)	Lipoic acid synthetase deficiency +1 more	GBenign
Select item 1187607	NM_006859.4(LIAS):c.393+147del	LIAS	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1250692	NM_006859.4(LIAS):c.394-27A>G	LIAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 138122	NM_006859.4(LIAS):c.507A>G (p.Glu169=)	LIAS	Single nucleotide variant (synonymous variant +1 more)	Lipoic acid synthetase deficiency +2 more	GBenign
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 2499326	NM_006859.4(LIAS):c.598T>G (p.Leu200Val)	LIAS (L200V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1245312	NM_006859.4(LIAS):c.609-184C>T	LIAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676266	NM_006859.4(LIAS):c.609-125T>C	LIAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 206048	NM_006859.4(LIAS):c.637A>G (p.Thr213Ala)	LIAS (T213A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 393112	NM_006859.4(LIAS):c.708T>G (p.His236Gln)	LIAS (H236Q +1 more)	Single nucleotide variant (missense variant +1 more)	Lipoic acid synthetase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 472881	NM_006859.4(LIAS):c.726G>A (p.Pro242=)	LIAS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 138123	NM_006859.4(LIAS):c.737+13A>T	LIAS	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1235443	NM_006859.4(LIAS):c.737+150C>G	LIAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187311	NM_006859.4(LIAS):c.738-304_738-301del	LIAS	Deletion (intron variant)	not provided	GLikely benign
Select item 674122	NM_006859.4(LIAS):c.738-243A>G	LIAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245272	NM_006859.4(LIAS):c.738-234A>C	LIAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 393113	NM_006859.4(LIAS):c.757G>C (p.Ala253Pro)	LIAS (A253P +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 378085	NM_006859.4(LIAS):c.807G>A (p.Gln269=)	LIAS	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 206038	NM_006859.4(LIAS):c.849C>T (p.Gly283=)	LIAS	Single nucleotide variant (synonymous variant)	Lipoic acid synthetase deficiency +1 more	GBenign/Likely benign
Select item 206039	NM_006859.4(LIAS):c.850G>A (p.Glu284Lys)	LIAS (E284K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3375618	NM_006859.4(LIAS):c.856G>C (p.Asp286His)	LIAS (D183H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 206040	NM_006859.4(LIAS):c.872C>T (p.Ala291Val)	LIAS (A291V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1178098	NM_006859.4(LIAS):c.883+278A>G	LIAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669810	NM_006859.4(LIAS):c.884-298_884-297insAACA	LIAS	Insertion (intron variant)	not provided	GBenign
Select item 670681	NM_006859.4(LIAS):c.884-60T>A	LIAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 516151	NM_006859.4(LIAS):c.884-18G>A	LIAS	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 138117	NM_006859.4(LIAS):c.884-14T>A	LIAS	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1204145	NM_006859.4(LIAS):c.889C>T (p.Arg297Cys)	LIAS (R194C +2 more)	Single nucleotide variant (missense variant)	Lipoic acid synthetase deficiency +1 more	GUncertain significance
Select item 206041	NM_006859.4(LIAS):c.930G>A (p.Met310Ile)	LIAS (M310I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 206042	NM_006859.4(LIAS):c.944G>A (p.Arg315His)	LIAS (R315H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 379693	NM_006859.4(LIAS):c.954+1G>A	LIAS	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1267468	NM_006859.4(LIAS):c.954+37dup	LIAS	Duplication (intron variant)	not provided	GBenign
Select item 1241260	NM_006859.4(LIAS):c.954+36_954+37del	LIAS	Deletion (intron variant)	not provided	GBenign
Select item 1234473	NM_006859.4(LIAS):c.954+37del	LIAS	Deletion (intron variant)	not provided	GBenign
Select item 1187011	NM_006859.4(LIAS):c.954+35_954+37del	LIAS	Deletion (intron variant)	not provided	GLikely benign
Select item 1214476	NM_006859.4(LIAS):c.954+32T>A	LIAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677282	NM_006859.4(LIAS):c.954+123G>A	LIAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246767	NM_006859.4(LIAS):c.954+146C>T	LIAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683095	NM_006859.4(LIAS):c.954+188C>T	LIAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280551	NM_006859.4(LIAS):c.954+237_954+238dup	LIAS	Duplication (intron variant)	not provided	GBenign
Select item 1263586	NM_006859.4(LIAS):c.954+236_954+238dup	LIAS	Duplication (intron variant)	not provided	GBenign
Select item 1254891	NM_006859.4(LIAS):c.954+235_954+238dup	LIAS	Duplication (intron variant)	not provided	GBenign
Select item 1189152	NM_006859.4(LIAS):c.954+238dup	LIAS	Duplication (intron variant)	not provided	GLikely benign
Select item 1295167	NM_006859.4(LIAS):c.954+226_954+238del	LIAS	Deletion (intron variant)	not provided	GBenign
Select item 1263766	NM_006859.4(LIAS):c.954+238del	LIAS	Deletion (intron variant)	not provided	GBenign
Select item 1241291	NM_006859.4(LIAS):c.954+236T>C	LIAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683097	NM_006859.4(LIAS):c.954+241G>C	LIAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683116	NM_006859.4(LIAS):c.954+244G>A	LIAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674123	NM_006859.4(LIAS):c.954+254T>C	LIAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674124	NM_006859.4(LIAS):c.954+260G>A	LIAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674137	NM_006859.4(LIAS):c.954+269G>A	LIAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675220	NM_006859.4(LIAS):c.955-65A>G	LIAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 418284	NM_006859.4(LIAS):c.983T>A (p.Phe328Tyr)	LIAS (F328Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 668480	NM_006859.4(LIAS):c.1066+17G>A	LIAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670682	NM_006859.4(LIAS):c.1066+37G>A	LIAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195864	NM_006859.4(LIAS):c.1066+65C>T	LIAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683063	NM_006859.4(LIAS):c.1066+243A>C	LIAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260179	NM_006859.4(LIAS):c.1066+329G>A	LIAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228142	NM_006859.4(LIAS):c.1067-294G>A	LIAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674138	NM_006859.4(LIAS):c.1067-258T>A	LIAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232089	NM_006859.4(LIAS):c.*14C>A	LIAS	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1245631	NM_006859.4(LIAS):c.*97G>A	LIAS	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1286240	NM_006859.4(LIAS):c.*141T>C	LIAS	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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