"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "ISCU"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 559223	NM_213595.4(ISCU):c.46C>T (p.Leu16=)	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 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 559225	NM_213595.4(ISCU):c.475C>G (p.Pro159Ala)	ISCU (P159A +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign

ClinVar