36[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 57088	GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3	FGFR2, GRK5 +119 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 150986	GRCh38/hg38 10q26.13(chr10:122143176-124358013)x1	ACADSB, ARMS2 +81 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 58820	GRCh38/hg38 10q26.13-26.2(chr10:122826743-126730948)x1	ABRAXAS2, ACADSB +164 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	LOC130004994, LOC130004995 +361 more	Copy number loss	See cases	GPathogenic
Select item 58821	GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1	ABRAXAS2, ACADSB +182 more	Copy number loss	See cases	GPathogenic
Select item 1166420	NC_000010.11:g.123008776G>A	ACADSB, IKZF5 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 368893	NM_001609.3(ACADSB):c.-123G>A	ACADSB, LOC130004876	Single nucleotide variant	Deficiency of 2-methylbutyryl-CoA dehydrogenase +1 more	GLikely benign
Select item 878310	NM_001609.3(ACADSB):c.-109A>T	ACADSB	Single nucleotide variant	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 299060	NM_001609.3(ACADSB):c.-102dup	ACADSB	Duplication	not provided +1 more	GBenign/Likely benign
Select item 299061	NM_001609.3(ACADSB):c.-107G>A	ACADSB	Single nucleotide variant	Deficiency of 2-methylbutyryl-CoA dehydrogenase +1 more	GBenign
Select item 299062	NM_001609.3(ACADSB):c.-102G>C	ACADSB	Single nucleotide variant	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 299063	NM_001609.3(ACADSB):c.-97T>C	ACADSB	Single nucleotide variant	Deficiency of 2-methylbutyryl-CoA dehydrogenase +1 more	GBenign
Select item 299064	NM_001609.3(ACADSB):c.-89G>T	ACADSB	Single nucleotide variant	not provided +1 more	GBenign
Select item 299065	NM_001609.3(ACADSB):c.-87G>T	ACADSB	Single nucleotide variant	Deficiency of 2-methylbutyryl-CoA dehydrogenase +1 more	GBenign
Select item 1678479	NC_000010.11:g.123008986G>T	ACADSB	Single nucleotide variant	not provided	GUncertain significance
Select item 299066	NM_001609.3(ACADSB):c.-39G>A	ACADSB	Single nucleotide variant	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 878311	NM_001609.3(ACADSB):c.-28G>T	ACADSB	Single nucleotide variant	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 299067	NM_001609.4(ACADSB):c.-22A>G	ACADSB	Single nucleotide variant (5 prime UTR variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 878892	NM_001609.4(ACADSB):c.-19G>C	ACADSB	Single nucleotide variant (5 prime UTR variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2581200	NM_001609.4(ACADSB):c.1A>T (p.Met1Leu)	ACADSB (M1L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2001202	NM_001609.4(ACADSB):c.6G>A (p.Glu2=)	ACADSB	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 2195993	NM_001609.4(ACADSB):c.8G>A (p.Gly3Asp)	ACADSB (G3D)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2009469	NM_001609.4(ACADSB):c.8G>C (p.Gly3Ala)	ACADSB (G3A)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1348511	NM_001609.4(ACADSB):c.13G>A (p.Ala5Thr)	ACADSB (A5T)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1037854	NM_001609.4(ACADSB):c.20G>T (p.Arg7Leu)	ACADSB (R7L)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 299068	NM_001609.4(ACADSB):c.38G>A (p.Arg13Lys)	ACADSB (R13K)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase +1 more	GBenign
Select item 3251633	NM_001609.4(ACADSB):c.39G>C (p.Arg13Ser)	ACADSB (R13S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 536347	NM_001609.4(ACADSB):c.42G>A (p.Leu14=)	ACADSB	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 299069	NM_001609.4(ACADSB):c.42G>T (p.Leu14=)	ACADSB	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1249547	NM_001609.4(ACADSB):c.42+312G>C	ACADSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180240	NM_001609.4(ACADSB):c.43-275A>G	ACADSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258728	NM_001609.4(ACADSB):c.43-156dup	ACADSB	Duplication (intron variant)	not provided	GBenign
Select item 583673	NC_000010.11:g.(?_123034356)_(123041379_?)del	ACADSB	Deletion	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GPathogenic
Select item 796631	NM_001609.4(ACADSB):c.45A>C (p.Leu15=)	ACADSB	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GBenign
Select item 3075976	NM_001609.4(ACADSB):c.68dup (p.Leu23fs)	ACADSB (L23fs)	Duplication (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely pathogenic
Select item 654197	NM_001609.4(ACADSB):c.67T>G (p.Leu23Val)	ACADSB (L23V)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1897714	NM_001609.4(ACADSB):c.79A>G (p.Lys27Glu)	ACADSB (K27E)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 299070	NM_001609.4(ACADSB):c.92A>G (p.His31Arg)	ACADSB (H31R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 299071	NM_001609.4(ACADSB):c.95T>A (p.Val32Asp)	ACADSB (V32D)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase +1 more	GUncertain significance
Select item 947014	NM_001609.4(ACADSB):c.154G>A (p.Ala52Thr)	ACADSB (A52T)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1514895	NM_001609.4(ACADSB):c.157C>T (p.Pro53Ser)	ACADSB (P53S)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1124481	NM_001609.4(ACADSB):c.159C>T (p.Pro53=)	ACADSB	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 299072	NM_001609.4(ACADSB):c.168A>G (p.Thr56=)	ACADSB	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 571020	NM_001609.4(ACADSB):c.176A>G (p.Asp59Gly)	ACADSB (D59G)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1358968	NM_001609.4(ACADSB):c.202G>T (p.Val68Phe)	ACADSB (V68F)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2991398	NM_001609.4(ACADSB):c.202+1G>C	ACADSB	Single nucleotide variant (splice donor variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely pathogenic
Select item 2438811	NM_001609.4(ACADSB):c.202+3A>C	ACADSB	Single nucleotide variant (intron variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1279965	NM_001609.4(ACADSB):c.202+298C>T	ACADSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264056	NM_001609.4(ACADSB):c.203-294C>A	ACADSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241409	NM_001609.4(ACADSB):c.203-273G>A	ACADSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 878893	NM_001609.4(ACADSB):c.219G>A (p.Gln73=)	ACADSB	Single nucleotide variant (synonymous variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GConflicting classifications of pathogenicity
Select item 2438810	NM_001609.4(ACADSB):c.232C>A (p.Pro78Thr)	ACADSB (P78T)	Single nucleotide variant (missense variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 650689	NM_001609.4(ACADSB):c.260C>T (p.Ser87Leu)	ACADSB (S87L)	Single nucleotide variant (missense variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1932616	NM_001609.4(ACADSB):c.261G>A (p.Ser87=)	ACADSB	Single nucleotide variant (synonymous variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 1410042	NM_001609.4(ACADSB):c.265A>G (p.Met89Val)	ACADSB (M89V)	Single nucleotide variant (missense variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2153596	NM_001609.4(ACADSB):c.275C>G (p.Ser92Ter)	ACADSB (S92*)	Single nucleotide variant (nonsense +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GPathogenic
Select item 281177	NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter)	ACADSB (Q99*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 203367	NM_001609.4(ACADSB):c.303+1G>A	ACADSB	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 448980	NM_001609.4(ACADSB):c.303+3A>G	ACADSB	Single nucleotide variant (intron variant)	ACADSB-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 806580	NM_001609.4(ACADSB):c.303+5A>G	ACADSB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1267858	NM_001609.4(ACADSB):c.303+125A>C	ACADSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225774	NM_001609.4(ACADSB):c.303+144A>C	ACADSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244510	NM_001609.4(ACADSB):c.303+160G>A	ACADSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233452	NM_001609.4(ACADSB):c.304-265dup	ACADSB	Duplication (intron variant)	not provided	GBenign
Select item 1266744	NM_001609.4(ACADSB):c.304-265del	ACADSB	Deletion (intron variant)	not provided	GBenign
Select item 1247609	NM_001609.4(ACADSB):c.304-269_304-265del	ACADSB	Deletion (intron variant)	not provided	GBenign
Select item 1287541	NM_001609.4(ACADSB):c.304-109AAT[3]	ACADSB	Microsatellite (intron variant)	not provided	GBenign
Select item 574583	NM_001609.4(ACADSB):c.334G>A (p.Gly112Arg)	ACADSB (G112R +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2754698	NM_001609.4(ACADSB):c.336A>G (p.Gly112=)	ACADSB	Single nucleotide variant (synonymous variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 2828858	NM_001609.4(ACADSB):c.356del (p.Leu119fs)	ACADSB (L119fs +1 more)	Deletion (frameshift variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GPathogenic
Select item 2185356	NM_001609.4(ACADSB):c.369C>T (p.Leu123=)	ACADSB	Single nucleotide variant (synonymous variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 2753617	NM_001609.4(ACADSB):c.370G>A (p.Val124Met)	ACADSB (V22M +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 664317	NM_001609.4(ACADSB):c.370G>C (p.Val124Leu)	ACADSB (V124L +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 659271	NM_001609.4(ACADSB):c.375dup (p.Glu126fs)	ACADSB (E126fs +1 more)	Duplication (frameshift variant)	See cases +1 more	GPathogenic/Likely pathogenic
Select item 2635298	NM_001609.4(ACADSB):c.376G>C (p.Glu126Gln)	ACADSB (E126Q +1 more)	Single nucleotide variant (missense variant)	ACADSB-related disorder	GUncertain significance
Select item 1503544	NM_001609.4(ACADSB):c.421A>C (p.Ile141Leu)	ACADSB (I39L +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1552010	NM_001609.4(ACADSB):c.426G>A (p.Gln142=)	ACADSB	Single nucleotide variant (synonymous variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 299073	NM_001609.4(ACADSB):c.429C>T (p.Asn143=)	ACADSB	Single nucleotide variant (synonymous variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2096944	NM_001609.4(ACADSB):c.436A>T (p.Ile146Phe)	ACADSB (I44F +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1521392	NM_001609.4(ACADSB):c.439A>T (p.Asn147Tyr)	ACADSB (N45Y +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase +1 more	GUncertain significance
Select item 9202	NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)	ACADSB (T148I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 702592	NM_001609.4(ACADSB):c.452G>A (p.Arg151Lys)	ACADSB (R49K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3363457	NM_001609.4(ACADSB):c.472C>A (p.Gln158Lys)	ACADSB (Q158K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678478	NM_001609.4(ACADSB):c.478del (p.Ala160fs)	ACADSB (A160fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 880118	NM_001609.4(ACADSB):c.496C>G (p.Leu166Val)	ACADSB (L166V +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1467643	NM_001609.4(ACADSB):c.510+13G>C	ACADSB	Single nucleotide variant (intron variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 1267384	NM_001609.4(ACADSB):c.511-262C>T	ACADSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215713	NM_001609.4(ACADSB):c.511-206G>T	ACADSB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235109	NM_001609.4(ACADSB):c.511-164del	ACADSB	Deletion (intron variant)	not provided	GBenign

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