"GeneDx"[submitter] AND "ISCU"[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	ISCU, LOC130008686	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1244373	NM_213595.3(ISCU):c.-314G>C	LOC130008686, ISCU	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 214555	NM_213595.4(ISCU):c.10G>C (p.Ala4Pro)	ISCU (A4P)	Single nucleotide variant (missense variant +2 more)	Hereditary myopathy with lactic acidosis due to ISCU deficiency +1 more	GConflicting classifications of pathogenicity
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 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 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 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 1194859	NM_213595.4(ISCU):c.39A>C (p.Ala13=)	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 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 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 214554	NM_213595.4(ISCU):c.114+17dup	ISCU, LOC130008688	Duplication (intron variant)	not provided +1 more	GBenign
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 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 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 383286	NM_213595.4(ISCU):c.228+11T>C	ISCU	Single nucleotide variant (intron variant)	not specified +1 more	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 377980	NM_213595.4(ISCU):c.229-5T>C	ISCU	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely 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 1408406	NM_213595.4(ISCU):c.338_339+2del	ISCU	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 214552	NM_213595.4(ISCU):c.339+6dup	ISCU	Duplication (intron variant)	not provided +1 more	GBenign
Select item 392116	NM_213595.4(ISCU):c.339+14C>T	ISCU	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1175535	NM_213595.4(ISCU):c.339+142A>G	ISCU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183353	NM_213595.4(ISCU):c.340-230T>A	ISCU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681975	NM_213595.4(ISCU):c.340-188A>G	ISCU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267255	NM_213595.4(ISCU):c.340-60G>T	ISCU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236654	NM_213595.4(ISCU):c.418+158A>G	ISCU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672371	NM_213595.4(ISCU):c.418+184A>G	ISCU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229010	NM_213595.4(ISCU):c.418+249C>T	ISCU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247400	NM_213595.4(ISCU):c.418+310T>C	ISCU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229224	NM_213595.4(ISCU):c.418+339A>G	ISCU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227780	NM_213595.4(ISCU):c.418+779G>A	ISCU	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 681977	NM_213595.4(ISCU):c.419-239G>A	ISCU	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 681978	NM_213595.4(ISCU):c.419-209C>G	ISCU	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1251487	NM_213595.4(ISCU):c.419-162C>T	ISCU	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary myopathy with lactic acidosis due to ISCU deficiency +1 more	GBenign/Likely benign
Select item 677599	NM_213595.4(ISCU):c.419-125T>C	ISCU	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1249347	NM_213595.4(ISCU):c.419-37C>T	ISCU	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1178190	NM_213595.4(ISCU):c.419-12C>T	ISCU	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1192183	NM_213595.4(ISCU):c.445G>A (p.Ala149Thr)	ISCU (A124T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 559224	NM_213595.4(ISCU):c.448C>T (p.Leu150=)	ISCU	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 382621	NM_213595.4(ISCU):c.*13C>T	ISCU	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 212779	NM_213595.4(ISCU):c.*14G>A	ISCU	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GBenign
Select item 1221075	NM_213595.4(ISCU):c.*235G>A	ISCU	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1257487	NM_213595.4(ISCU):c.*237A>T	ISCU	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3361432	NM_213595.4(ISCU):c.64C>G (p.Arg22Gly)	ISCU (R22G)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance

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Items: 62