ClinVar for Gene (Select 23479) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3110993	NM_213595.4(ISCU):c.149G>C (p.Gly50Ala)	ISCU (G50A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3055719	NM_213595.4(ISCU):c.418+383A>G	ISCU	Single nucleotide variant (intron variant)	ISCU-related disorder	GLikely benign
Select item 3054172	NM_213595.4(ISCU):c.418+689G>A	ISCU	Single nucleotide variant (synonymous variant +2 more)	ISCU-related disorder	GLikely benign
Select item 3051426	NM_213595.4(ISCU):c.418+643C>T	ISCU	Single nucleotide variant (3 prime UTR variant +1 more)	ISCU-related disorder	GLikely benign
Select item 3045500	NM_213595.4(ISCU):c.418+409A>G	ISCU	Single nucleotide variant (synonymous variant +2 more)	ISCU-related disorder	GLikely benign
Select item 3020511	NM_213595.4(ISCU):c.214G>A (p.Val72Ile)	ISCU (V72I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3006664	NM_213595.4(ISCU):c.15G>C (p.Gly5=)	ISCU	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2986490	NM_213595.4(ISCU):c.114+17_114+18insT	ISCU, LOC130008688	Insertion (intron variant)	not provided	GLikely benign
Select item 2983236	NM_213595.4(ISCU):c.419-9T>C	ISCU	Single nucleotide variant (3 prime UTR variant +1 more)	ISCU-related disorder +1 more	GLikely benign
Select item 2974932	NM_213595.4(ISCU):c.87G>T (p.Ser29=)	ISCU, LOC130008688	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2962071	NM_213595.4(ISCU):c.35C>G (p.Ala12Gly)	ISCU (A12G)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2873213	NM_213595.4(ISCU):c.419-11G>C	ISCU	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2814908	NM_213595.4(ISCU):c.114+13G>A	ISCU, LOC130008688	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786373	NM_213595.4(ISCU):c.115-14C>T	ISCU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776650	NM_213595.4(ISCU):c.40T>A (p.Ser14Thr)	ISCU (S14T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2756175	NM_213595.4(ISCU):c.15G>T (p.Gly5=)	ISCU	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2699311	NM_213595.4(ISCU):c.419-16C>T	ISCU	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2582121	NM_213595.4(ISCU):c.81G>C (p.Glu27Asp)	ISCU, LOC130008688 (E27D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2578027	NM_213595.4(ISCU):c.418+702T>C	ISCU	Single nucleotide variant (stop lost +2 more)	Hereditary myopathy with lactic acidosis due to ISCU deficiency	GUncertain significance
Select item 2570854	GRCh37/hg19 12q23.3-24.11(chr12:108917234-109052695)x3	CORO1C, ISCU +3 more	Copy number gain	not provided	GUncertain significance
Select item 2483261	NM_213595.4(ISCU):c.442G>T (p.Ala148Ser)	ISCU (A123S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2432877	NM_213595.4(ISCU):c.484G>T (p.Gly162Ter)	ISCU (G137* +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Hereditary myopathy with lactic acidosis due to ISCU deficiency	GUncertain significance
Select item 2432876	NM_213595.4(ISCU):c.368_369del (p.Thr123fs)	ISCU (T123fs +1 more)	Microsatellite (frameshift variant +1 more)	Hereditary myopathy with lactic acidosis due to ISCU deficiency	GUncertain significance
Select item 2427784	NC_000012.11:g.(?_108956399)_(108962692_?)dup	ISCU	Duplication	not provided	GUncertain significance
Select item 2420997	NM_213595.4(ISCU):c.191T>C (p.Val64Ala)	ISCU (V39A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2344077	NM_213595.4(ISCU):c.43G>A (p.Ala15Thr)	ISCU (A15T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2319823	NM_213595.4(ISCU):c.445G>T (p.Ala149Ser)	ISCU (A124S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2310629	NM_213595.4(ISCU):c.59G>T (p.Ser20Ile)	ISCU (S20I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2305866	NM_213595.4(ISCU):c.400G>A (p.Val134Met)	ISCU (V109M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305363	NM_213595.4(ISCU):c.494A>G (p.Glu165Gly)	ISCU (E140G +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2256831	NM_213595.4(ISCU):c.85T>G (p.Ser29Ala)	ISCU, LOC130008688 (S29A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2184980	NM_213595.4(ISCU):c.14G>C (p.Gly5Ala)	ISCU (G5A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2181575	NM_213595.4(ISCU):c.444C>T (p.Ala148=)	ISCU	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2166601	NM_213595.4(ISCU):c.338C>T (p.Thr113Met)	ISCU (T113M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2166156	NM_213595.4(ISCU):c.27G>C (p.Leu9=)	ISCU	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2148883	NM_213595.4(ISCU):c.333A>G (p.Gly111=)	ISCU	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2118195	NM_213595.4(ISCU):c.223_224del (p.Leu75fs)	ISCU (L75fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2069576	NM_213595.4(ISCU):c.328A>G (p.Lys110Glu)	ISCU (K85E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2058370	NM_213595.4(ISCU):c.150G>A (p.Gly50=)	ISCU	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2056144	NM_213595.4(ISCU):c.340-4_340-3del	ISCU	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2039157	NM_213595.4(ISCU):c.118G>C (p.Val40Leu)	ISCU (V40L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2017433	NM_213595.4(ISCU):c.138T>C (p.Pro46=)	ISCU	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1994495	NM_213595.4(ISCU):c.129T>C (p.Tyr43=)	ISCU	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1976772	NM_213595.4(ISCU):c.292G>A (p.Ala98Thr)	ISCU (A73T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1965497	NM_213595.4(ISCU):c.59G>A (p.Ser20Asn)	ISCU (S20N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1960252	NM_213595.4(ISCU):c.22C>G (p.Arg8Gly)	ISCU (R8G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1955318	NM_213595.4(ISCU):c.339+7T>C	ISCU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1954453	NM_213595.4(ISCU):c.143A>C (p.Asn48Thr)	ISCU (N23T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1948954	NM_213595.4(ISCU):c.228+18del	ISCU	Deletion (intron variant)	not provided	GBenign
Select item 1943699	NM_213595.4(ISCU):c.294A>C (p.Ala98=)	ISCU	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1942642	NM_213595.4(ISCU):c.340-14A>G	ISCU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1941371	NM_213595.4(ISCU):c.114+20G>T	ISCU, LOC130008688	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1938921	NM_213595.4(ISCU):c.436A>G (p.Ile146Val)	ISCU (I146V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1918263	NM_213595.4(ISCU):c.309A>G (p.Ser103=)	ISCU	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1917963	NM_213595.4(ISCU):c.29G>A (p.Arg10Lys)	ISCU (R10K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1917962	NM_213595.4(ISCU):c.27G>A (p.Leu9=)	ISCU	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1914145	NM_213595.4(ISCU):c.213C>T (p.Asp71=)	ISCU	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1908029	NM_213595.4(ISCU):c.314C>G (p.Ala105Gly)	ISCU (A105G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1698249	NM_213595.4(ISCU):c.92C>T (p.Pro31Leu)	ISCU, LOC130008688 (P31L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1694673	NM_213595.4(ISCU):c.12T>G (p.Ala4=)	ISCU	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1672669	NM_213595.4(ISCU):c.369A>G (p.Thr123=)	ISCU	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1667950	NM_213595.4(ISCU):c.229-13G>A	ISCU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1664889	NM_213595.4(ISCU):c.9G>A (p.Ala3=)	ISCU	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1664632	NM_213595.4(ISCU):c.30G>A (p.Arg10=)	ISCU	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1640320	NM_213595.4(ISCU):c.418+12C>T	ISCU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639504	NM_213595.4(ISCU):c.419-20T>C	ISCU	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1611242	NM_213595.4(ISCU):c.15G>A (p.Gly5=)	ISCU	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1606128	NM_213595.4(ISCU):c.340-9G>T	ISCU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1602595	NM_213595.4(ISCU):c.419-4C>G	ISCU	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1600022	NM_213595.4(ISCU):c.110A>G (p.Lys37Arg)	ISCU, LOC130008688 (K37R)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1586742	NM_213595.4(ISCU):c.463T>C (p.Leu155=)	ISCU	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1582731	NM_213595.4(ISCU):c.228+15T>G	ISCU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1560056	NM_213595.4(ISCU):c.90C>T (p.Ala30=)	ISCU, LOC130008688	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1554074	NM_213595.4(ISCU):c.246G>A (p.Lys82=)	ISCU	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1550398	NM_213595.4(ISCU):c.229-15_229-14del	ISCU	Deletion (intron variant)	not provided	GLikely benign
Select item 1542477	NM_213595.4(ISCU):c.114+16_114+17insC	ISCU, LOC130008688	Insertion (intron variant)	not provided	GLikely benign
Select item 1534345	NM_213595.4(ISCU):c.339+12C>G	ISCU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1533169	NM_213595.4(ISCU):c.49C>T (p.Leu17=)	ISCU	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1521547	NM_213595.4(ISCU):c.306C>G (p.Ser102Arg)	ISCU (S102R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1507275	NM_213595.4(ISCU):c.22C>T (p.Arg8Cys)	ISCU (R8C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1493236	NM_213595.4(ISCU):c.22C>A (p.Arg8Ser)	ISCU (R8S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1480111	NM_213595.4(ISCU):c.336G>C (p.Lys112Asn)	ISCU (K87N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1471592	NM_213595.4(ISCU):c.41C>T (p.Ser14Leu)	ISCU (S14L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1446521	NM_213595.4(ISCU):c.382_383delinsCT (p.Glu128Leu)	ISCU (E103L +1 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1434403	NM_213595.4(ISCU):c.79G>C (p.Glu27Gln)	ISCU, LOC130008688 (E27Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1428543	NM_213595.4(ISCU):c.498G>C (p.Lys166Asn)	ISCU (K141N +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1414279	NM_213595.4(ISCU):c.38C>T (p.Ala13Val)	ISCU (A13V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1408406	NM_213595.4(ISCU):c.338_339+2del	ISCU	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 1406161	NM_213595.4(ISCU):c.32G>C (p.Arg11Pro)	ISCU (R11P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1405830	NM_213595.4(ISCU):c.31C>T (p.Arg11Trp)	ISCU (R11W)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1400975	NM_213595.4(ISCU):c.339G>A (p.Thr113=)	ISCU	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1373232	NM_213595.4(ISCU):c.228+1G>A	ISCU	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1368663	NM_213595.4(ISCU):c.338C>A (p.Thr113Lys)	ISCU (T113K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1367098	NM_213595.4(ISCU):c.5C>T (p.Ala2Val)	ISCU (A2V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1359255	NM_213595.4(ISCU):c.145G>A (p.Val49Met)	ISCU (V24M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1351462	NM_213595.4(ISCU):c.19_21delinsGGT (p.Phe7Gly)	ISCU (F7G)	Indel (missense variant +2 more)	not provided	GUncertain significance
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 1297364	NM_213595.3(ISCU):c.-259delC	ISCU	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1296505	NM_213595.3(ISCU):c.-311T>C	ISCU, LOC130008686	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign

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