"ISCU-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - 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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1194859	NM_213595.4(ISCU):c.39A>C (p.Ala13=)	ISCU	Single nucleotide variant (synonymous variant +2 more)	ISCU-related disorder +1 more	GLikely benign
Select item 214553	NM_213595.4(ISCU):c.51G>A (p.Leu17=)	ISCU	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 3055719	NM_213595.4(ISCU):c.418+383A>G	ISCU	Single nucleotide variant (intron variant)	ISCU-related disorder	GLikely benign
Select item 3045500	NM_213595.4(ISCU):c.418+409A>G	ISCU	Single nucleotide variant (synonymous variant +2 more)	ISCU-related disorder	GLikely benign
Select item 3051426	NM_213595.4(ISCU):c.418+643C>T	ISCU	Single nucleotide variant (3 prime UTR variant +1 more)	ISCU-related disorder	GLikely benign
Select item 3054172	NM_213595.4(ISCU):c.418+689G>A	ISCU	Single nucleotide variant (synonymous variant +2 more)	ISCU-related disorder	GLikely benign
Select item 2983236	NM_213595.4(ISCU):c.419-9T>C	ISCU	Single nucleotide variant (3 prime UTR variant +1 more)	ISCU-related disorder +1 more	GLikely benign
Select item 559224	NM_213595.4(ISCU):c.448C>T (p.Leu150=)	ISCU	Single nucleotide variant (3 prime UTR variant +2 more)	ISCU-related disorder +1 more	GLikely benign

ClinVar