ISCU[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 149538	GRCh38/hg38 12q23.3-24.11(chr12:105644967-108994840)x1	ABTB3, ASCL4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 1245691	NM_213595.3(ISCU):c.-555A>G	ISCU	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1247689	NM_213595.3(ISCU):c.-517C>T	ISCU	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1178771	NM_213595.3(ISCU):c.-490A>G	ISCU	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1294387	NM_213595.3(ISCU):c.-394C>G	ISCU	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1177983	NM_213595.3(ISCU):c.-324C>T	LOC130008686, ISCU	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1244373	NM_213595.3(ISCU):c.-314G>C	ISCU, LOC130008686	Single nucleotide variant (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
Select item 1297364	NM_213595.3(ISCU):c.-259delC	ISCU	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1262049	NM_213595.3(ISCU):c.-101T>C	ISCU	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1245132	NM_213595.3(ISCU):c.-42C>T	ISCU	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 509832	NM_213595.4(ISCU):c.-19G>T	ISCU	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
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 1664889	NM_213595.4(ISCU):c.9G>A (p.Ala3=)	ISCU	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 214555	NM_213595.4(ISCU):c.10G>C (p.Ala4Pro)	ISCU (A4P)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 3006664	NM_213595.4(ISCU):c.15G>C (p.Gly5=)	ISCU	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 1611242	NM_213595.4(ISCU):c.15G>A (p.Gly5=)	ISCU	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 374542	NM_213595.4(ISCU):c.17C>T (p.Ala6Val)	ISCU (A6V)	Single nucleotide variant (missense variant +2 more)	not provided	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 768575	NM_213595.4(ISCU):c.19T>G (p.Phe7Val)	ISCU (F7V)	Single nucleotide variant (missense variant +2 more)	Hereditary myopathy with lactic acidosis due to ISCU deficiency +1 more	GBenign
Select item 559220	NM_213595.4(ISCU):c.19_20delinsGG (p.Phe7Gly)	ISCU (F7G)	Indel (missense variant +2 more)	not provided +1 more	GBenign
Select item 559221	NM_213595.4(ISCU):c.20T>G (p.Phe7Cys)	ISCU (F7C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
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 1507275	NM_213595.4(ISCU):c.22C>T (p.Arg8Cys)	ISCU (R8C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +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 738266	NM_213595.4(ISCU):c.25C>T (p.Leu9=)	ISCU	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
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 1917962	NM_213595.4(ISCU):c.27G>A (p.Leu9=)	ISCU	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 137593	NM_213595.4(ISCU):c.27G>T (p.Leu9=)	ISCU	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign
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 1664632	NM_213595.4(ISCU):c.30G>A (p.Arg10=)	ISCU	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 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 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 559222	NM_213595.4(ISCU):c.35C>T (p.Ala12Val)	ISCU (A12V)	Single nucleotide variant (missense variant +2 more)	Hereditary myopathy with lactic acidosis due to ISCU deficiency +1 more	GBenign
Select item 1414279	NM_213595.4(ISCU):c.38C>T (p.Ala13Val)	ISCU (A13V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1194859	NM_213595.4(ISCU):c.39A>C (p.Ala13=)	ISCU	Single nucleotide variant (synonymous variant +2 more)	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 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 2344077	NM_213595.4(ISCU):c.43G>A (p.Ala15Thr)	ISCU (A15T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 559223	NM_213595.4(ISCU):c.46C>T (p.Leu16=)	ISCU	Single nucleotide variant (synonymous variant +2 more)	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 214553	NM_213595.4(ISCU):c.51G>A (p.Leu17=)	ISCU	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 377979	NM_213595.4(ISCU):c.52C>A (p.Leu18Met)	ISCU (L18M)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 806931	NM_213595.4(ISCU):c.89C>T (p.Ala30Val)	ISCU, LOC130008688 (A30V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1560056	NM_213595.4(ISCU):c.90C>T (p.Ala30=)	LOC130008688, ISCU	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 214556	NM_213595.4(ISCU):c.100C>T (p.Leu34Phe)	ISCU, LOC130008688 (L34F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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/Likely 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 214554	NM_213595.4(ISCU):c.114+17dup	ISCU, LOC130008688	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1542477	NM_213595.4(ISCU):c.114+16_114+17insC	ISCU, LOC130008688	Insertion (intron variant)	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 1941371	NM_213595.4(ISCU):c.114+20G>T	ISCU, LOC130008688	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253788	NM_213595.4(ISCU):c.114+98C>G	ISCU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679954	NM_213595.4(ISCU):c.114+183C>T	ISCU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223605	NM_213595.4(ISCU):c.115-246G>T	ISCU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 618693	NM_213595.4(ISCU):c.115-152T>C	ISCU (I4T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2786373	NM_213595.4(ISCU):c.115-14C>T	ISCU	Single nucleotide variant (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 1994495	NM_213595.4(ISCU):c.129T>C (p.Tyr43=)	ISCU	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 380136	NM_213595.4(ISCU):c.144C>T (p.Asn48=)	ISCU	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 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 783	NM_213595.4(ISCU):c.149G>A (p.Gly50Glu)	ISCU (G50E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
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 385404	NM_213595.4(ISCU):c.165A>G (p.Thr55=)	ISCU	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
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 1013017	NM_213595.4(ISCU):c.207T>C (p.Cys69=)	ISCU	Single nucleotide variant (synonymous variant +1 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 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 3286604	NM_213595.4(ISCU):c.217A>G (p.Met73Val)	ISCU (M73V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1373232	NM_213595.4(ISCU):c.228+1G>A	ISCU	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 383286	NM_213595.4(ISCU):c.228+11T>C	ISCU	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1948954	NM_213595.4(ISCU):c.228+18del	ISCU	Deletion (intron variant)	not provided	GBenign
Select item 1582731	NM_213595.4(ISCU):c.228+15T>G	ISCU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293500	NM_213595.4(ISCU):c.228+172C>T	ISCU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211736	NM_213595.4(ISCU):c.228+210C>T	ISCU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684116	NM_213595.4(ISCU):c.228+271T>C	ISCU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1550398	NM_213595.4(ISCU):c.229-15_229-14del	ISCU	Deletion (intron variant)	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 377980	NM_213595.4(ISCU):c.229-5T>C	ISCU	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely 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 511189	NM_213595.4(ISCU):c.291C>T (p.Ser97=)	ISCU	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	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

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