Related gene-specific medical variations for Gene (Select 23479) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2986490	NM_213595.4(ISCU):c.114+17_114+18insT	ISCU, LOC130008688	Insertion (intron variant)	not provided	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 2814908	NM_213595.4(ISCU):c.114+13G>A	ISCU, LOC130008688	Single nucleotide variant (intron variant)	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 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 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 1941371	NM_213595.4(ISCU):c.114+20G>T	ISCU, LOC130008688	Single nucleotide variant (intron variant)	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 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 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 1542477	NM_213595.4(ISCU):c.114+16_114+17insC	ISCU, LOC130008688	Insertion (intron variant)	not provided	GLikely benign
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 1296505	NM_213595.3(ISCU):c.-311T>C	ISCU, LOC130008686	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 1177983	NM_213595.3(ISCU):c.-324C>T	ISCU, LOC130008686	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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 618693	NM_213595.4(ISCU):c.115-152T>C	ISCU (I4T)	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)	Hereditary myopathy with lactic acidosis due to ISCU deficiency +1 more	GBenign

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Links from Gene

Items: 20