ClinVar for MedGen (Select 863240) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067867	NM_001105247.2(ARMC5):c.583G>C (p.Gly195Arg)	ARMC5 (G195R +2 more)	Single nucleotide variant (missense variant)	ACTH-independent macronodular adrenal hyperplasia 2	GUncertain significance
Select item 2439206	NM_001105247.2(ARMC5):c.1000C>T (p.Arg334Cys)	ARMC5 (R334C +2 more)	Single nucleotide variant (missense variant)	ACTH-independent macronodular adrenal hyperplasia 2	GUncertain significance
Select item 1803212	NM_001105247.2(ARMC5):c.1199_1224dup (p.Ala409fs)	ARMC5 (A409fs +2 more)	Duplication (frameshift variant)	ACTH-independent macronodular adrenal hyperplasia 2	GPathogenic
Select item 1803110	NM_001105247.2(ARMC5):c.337_338dup (p.Val114fs)	ARMC5, LOC130058906 (V114fs +2 more)	Duplication (frameshift variant)	ACTH-independent macronodular adrenal hyperplasia 2	GPathogenic
Select item 1693528	NM_001105247.2(ARMC5):c.2436del (p.Cys813fs)	ARMC5 (C813fs +2 more)	Deletion (frameshift variant +1 more)	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 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 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 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
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 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 1323417	NM_001105247.2(ARMC5):c.2290C>T (p.Arg764Ter)	ARMC5 (R764* +2 more)	Single nucleotide variant (nonsense +1 more)	ACTH-independent macronodular adrenal hyperplasia 2	GPathogenic
Select item 1303338	NM_001105247.2(ARMC5):c.2192C>G (p.Pro731Arg)	ARMC5 (P731R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1032626	NM_001105247.2(ARMC5):c.2657G>A (p.Arg886His)	ARMC5 (R886H +2 more)	Single nucleotide variant (missense variant +1 more)	ACTH-independent macronodular adrenal hyperplasia 2	GUncertain significance
Select item 1032625	NM_001105247.2(ARMC5):c.1864+198T>A	ARMC5 (S688T)	Single nucleotide variant (missense variant +1 more)	ARMC5-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 777011	NM_001105247.2(ARMC5):c.729C>T (p.Ala243=)	ARMC5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 777010	NM_001105247.2(ARMC5):c.466C>T (p.Leu156Phe)	ARMC5, LOC130058906 (L188F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 666958	NM_001105247.2(ARMC5):c.1767_1771dup (p.Leu591fs)	ARMC5 (L686fs +2 more)	Microsatellite (frameshift variant)	ACTH-independent macronodular adrenal hyperplasia 2	GLikely pathogenic
Select item 144058	NM_001105247.2(ARMC5):c.1094T>C (p.Leu365Pro)	ARMC5 (L365P +2 more)	Single nucleotide variant (missense variant)	ACTH-independent macronodular adrenal hyperplasia 2	GPathogenic
Select item 144057	NM_001105247.2(ARMC5):c.1777C>T (p.Arg593Trp)	ARMC5 (R593W +2 more)	Single nucleotide variant (missense variant)	ACTH-independent macronodular adrenal hyperplasia 2	GPathogenic
Select item 144056	NM_001105247.2(ARMC5):c.170del (p.Gly57fs)	ARMC5 (G152fs +2 more)	Deletion (frameshift variant)	ACTH-independent macronodular adrenal hyperplasia 2	GPathogenic
Select item 144055	NM_001105247.2(ARMC5):c.1643T>C (p.Leu548Pro)	ARMC5 (L548P +2 more)	Single nucleotide variant (missense variant)	ACTH-independent macronodular adrenal hyperplasia 2	GPathogenic
Select item 144054	NM_001105247.2(ARMC5):c.256C>T (p.Gln86Ter)	ARMC5, LOC130058906 (Q86* +2 more)	Single nucleotide variant (nonsense)	ACTH-independent macronodular adrenal hyperplasia 2	GPathogenic
Select item 144053	NM_001105247.2(ARMC5):c.2692C>T (p.Arg898Trp)	ARMC5 (R898W +2 more)	Single nucleotide variant (missense variant +1 more)	ACTH-independent macronodular adrenal hyperplasia 2	GPathogenic
Select item 144052	NM_001105247.2(ARMC5):c.799C>T (p.Arg267Ter)	ARMC5 (R267* +2 more)	Single nucleotide variant (nonsense)	ACTH-independent macronodular adrenal hyperplasia 2	GPathogenic

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Items: 25