ClinVar for MedGen (Select 342573) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 559220	NM_213595.4(ISCU):c.19_20delinsGG (p.Phe7Gly)	ISCU (F7G)	Indel (missense variant +2 more)	Hereditary myopathy with lactic acidosis due to ISCU deficiency +1 more	GBenign
Select item 223141	NM_213595.4(ISCU):c.418+382G>C	ISCU	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 214555	NM_213595.4(ISCU):c.10G>C (p.Ala4Pro)	ISCU (A4P)	Single nucleotide variant (missense variant +2 more)	ISCU-related condition +2 more	GConflicting classifications of pathogenicity
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
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