C4014803[trait identifier] AND "Molecular Medicine Laboratory, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1339346	NM_001105247.2(ARMC5):c.174dup (p.Glu59fs)	ARMC5 (E154fs +2 more)	Duplication (frameshift variant)	ACTH-independent macronodular adrenal hyperplasia 2	GPathogenic
Select item 1341364	NM_001105247.2(ARMC5):c.283_286del (p.Ser95fs)	ARMC5, LOC130058906 (S127fs +2 more)	Deletion (frameshift variant)	ACTH-independent macronodular adrenal hyperplasia 2	GPathogenic
Select item 1339342	NM_001105247.2(ARMC5):c.968G>A (p.Gly323Asp)	ARMC5 (G323D +2 more)	Single nucleotide variant (missense variant)	ACTH-independent macronodular adrenal hyperplasia 2	GLikely pathogenic
Select item 1339343	NM_001105247.2(ARMC5):c.1787T>G (p.Leu596Arg)	ARMC5 (L596R +2 more)	Single nucleotide variant (missense variant)	ACTH-independent macronodular adrenal hyperplasia 2	GLikely pathogenic
Select item 1339347	NM_001105247.2(ARMC5):c.2025del (p.Leu676fs)	ARMC5 (L676fs +2 more)	Deletion (frameshift variant +1 more)	ACTH-independent macronodular adrenal hyperplasia 2	GPathogenic
Select item 1339344	NM_001105247.2(ARMC5):c.2432G>C (p.Arg811Pro)	ARMC5 (R811P +2 more)	Single nucleotide variant (missense variant +1 more)	ACTH-independent macronodular adrenal hyperplasia 2	GLikely pathogenic

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