ARMC5[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 224

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic
Select item 3028967	NM_001301820.1(ARMC5):c.21A>C (p.Pro7=)	ARMC5, LOC130058905	Single nucleotide variant (synonymous variant +2 more)	ARMC5-related disorder	GLikely benign
Select item 3038470	NM_001301820.1(ARMC5):c.24A>C (p.Gly8=)	ARMC5, LOC130058905	Single nucleotide variant (synonymous variant +2 more)	ARMC5-related disorder	GLikely benign
Select item 2636753	NM_001301820.1(ARMC5):c.39G>A (p.Lys13=)	ARMC5, LOC130058905	Single nucleotide variant (synonymous variant +2 more)	ARMC5-related disorder	GUncertain significance
Select item 2392814	NM_001105247.2(ARMC5):c.17C>T (p.Pro6Leu)	ARMC5 (P38L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1328258	NM_001105247.2(ARMC5):c.41T>A (p.Phe14Tyr)	ARMC5 (F109Y +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 726256	NM_001105247.2(ARMC5):c.57C>T (p.Leu19=)	ARMC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636646	NM_001105247.2(ARMC5):c.58G>A (p.Ala20Thr)	ARMC5 (A115T +2 more)	Single nucleotide variant (missense variant)	ARMC5-related disorder	GUncertain significance
Select item 790703	NM_001105247.2(ARMC5):c.63G>A (p.Ala21=)	ARMC5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2380776	NM_001105247.2(ARMC5):c.65C>T (p.Ala22Val)	ARMC5 (A22V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129662	NM_001105247.2(ARMC5):c.70G>A (p.Gly24Arg)	ARMC5 (G56R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462469	NM_001105247.2(ARMC5):c.89A>G (p.Glu30Gly)	ARMC5 (E30G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2540432	NM_001105247.2(ARMC5):c.97C>T (p.Pro33Ser)	ARMC5 (P128S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244616	NM_001105247.2(ARMC5):c.108C>G (p.Asn36Lys)	ARMC5 (N36K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3315620	NM_001105247.2(ARMC5):c.109G>A (p.Glu37Lys)	ARMC5 (E132K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 731845	NM_001105247.2(ARMC5):c.121A>G (p.Ser41Gly)	ARMC5 (S136G +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2468943	NM_001105247.2(ARMC5):c.164C>T (p.Ala55Val)	ARMC5 (A150V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 3129653	NM_001105247.2(ARMC5):c.166G>C (p.Gly56Arg)	ARMC5 (G56R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 713380	NM_001105247.2(ARMC5):c.174C>T (p.Ile58=)	ARMC5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 756155	NM_001105247.2(ARMC5):c.177G>A (p.Glu59=)	ARMC5, LOC130058906	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620252	NM_001105247.2(ARMC5):c.193G>A (p.Gly65Ser)	ARMC5, LOC130058906 (G97S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129656	NM_001105247.2(ARMC5):c.202C>T (p.Arg68Cys)	ARMC5, LOC130058906 (R68C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3032298	NM_001105247.2(ARMC5):c.237A>G (p.Ala79=)	ARMC5, LOC130058906	Single nucleotide variant (synonymous variant)	ARMC5-related disorder	GLikely benign
Select item 2481535	NM_001105247.2(ARMC5):c.239C>T (p.Ala80Val)	ARMC5, LOC130058906 (A112V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3052195	NM_001105247.2(ARMC5):c.257A>T (p.Gln86Leu)	ARMC5, LOC130058906 (Q118L +2 more)	Single nucleotide variant (missense variant)	ARMC5-related disorder	GLikely benign
Select item 3036142	NM_001105247.2(ARMC5):c.282G>C (p.Ser94=)	ARMC5, LOC130058906	Single nucleotide variant (synonymous variant)	ARMC5-related disorder	GLikely benign
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 732497	NM_001105247.2(ARMC5):c.288C>G (p.Ala96=)	ARMC5, LOC130058906	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2477494	NM_001105247.2(ARMC5):c.289G>A (p.Ala97Thr)	ARMC5, LOC130058906 (A129T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 715819	NM_001105247.2(ARMC5):c.294G>T (p.Ser98=)	ARMC5, LOC130058906	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3129658	NM_001105247.2(ARMC5):c.308C>T (p.Pro103Leu)	ARMC5, LOC130058906 (P198L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3031151	NM_001105247.2(ARMC5):c.327dup (p.Ala110fs)	ARMC5, LOC130058906 (A110fs +2 more)	Duplication (frameshift variant)	ARMC5-related disorder	GPathogenic
Select item 732540	NM_001105247.2(ARMC5):c.328G>A (p.Ala110Thr)	LOC130058906, ARMC5 (A205T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2391346	NM_001105247.2(ARMC5):c.392T>G (p.Leu131Trp)	ARMC5, LOC130058906 (L131W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3348188	NM_001105247.2(ARMC5):c.398T>C (p.Leu133Pro)	ARMC5, LOC130058906 (L133P +2 more)	Single nucleotide variant (missense variant)	ARMC5-related disorder	GUncertain significance
Select item 2672631	NM_001105247.2(ARMC5):c.432G>T (p.Ala144=)	ARMC5, LOC130058906	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2262241	NM_001105247.2(ARMC5):c.433T>A (p.Cys145Ser)	ARMC5, LOC130058906 (C145S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783738	NM_001105247.2(ARMC5):c.438G>A (p.Arg146=)	ARMC5, LOC130058906	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1311256	NM_001105247.2(ARMC5):c.439A>G (p.Thr147Ala)	ARMC5, LOC130058906 (T147A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2631770	NM_001105247.2(ARMC5):c.469C>T (p.Pro157Ser)	ARMC5, LOC130058906 (P157S +2 more)	Single nucleotide variant (missense variant)	ARMC5-related disorder	GUncertain significance
Select item 2330082	NM_001105247.2(ARMC5):c.479C>T (p.Thr160Ile)	ARMC5 (T160I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1328291	NM_001105247.2(ARMC5):c.508A>G (p.Ile170Val)	ARMC5 (I170V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3054269	NM_001105247.2(ARMC5):c.513G>A (p.Gln171=)	ARMC5	Single nucleotide variant (synonymous variant)	ARMC5-related disorder	GLikely benign
Select item 2575996	NM_001105247.2(ARMC5):c.517C>T (p.Arg173Ter)	ARMC5 (R173* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 723097	NM_001105247.2(ARMC5):c.537G>A (p.Gly179=)	ARMC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3129660	NM_001105247.2(ARMC5):c.606G>C (p.Glu202Asp)	ARMC5 (E234D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129661	NM_001105247.2(ARMC5):c.616G>T (p.Ala206Ser)	ARMC5 (A206S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3030836	NM_001105247.2(ARMC5):c.621C>T (p.Cys207=)	ARMC5	Single nucleotide variant (synonymous variant)	ARMC5-related disorder	GLikely benign
Select item 3054353	NM_001105247.2(ARMC5):c.645C>T (p.Ser215=)	ARMC5	Single nucleotide variant (synonymous variant)	ARMC5-related disorder	GLikely benign
Select item 3035249	NM_001105247.2(ARMC5):c.723G>T (p.Pro241=)	ARMC5	Single nucleotide variant (synonymous variant)	ARMC5-related disorder	GLikely benign
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 3129663	NM_001105247.2(ARMC5):c.748C>T (p.Pro250Ser)	ARMC5 (P282S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295547	NM_001105247.2(ARMC5):c.753T>A (p.Asp251Glu)	ARMC5 (D251E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299208	NM_001105247.2(ARMC5):c.784C>T (p.Leu262Phe)	ARMC5 (L357F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260845	NM_001105247.2(ARMC5):c.797G>C (p.Ser266Thr)	ARMC5 (S266T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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
Select item 755092	NM_001105247.2(ARMC5):c.858C>A (p.Leu286=)	ARMC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714225	NM_001105247.2(ARMC5):c.858C>T (p.Leu286=)	ARMC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3043229	NM_001105247.2(ARMC5):c.909G>C (p.Leu303=)	ARMC5	Single nucleotide variant (synonymous variant)	ARMC5-related disorder	GBenign
Select item 3047523	NM_001105247.2(ARMC5):c.910A>G (p.Ile304Val)	ARMC5 (I304V +2 more)	Single nucleotide variant (missense variant)	ARMC5-related disorder	GLikely benign
Select item 797908	NM_001105247.2(ARMC5):c.915C>T (p.Leu305=)	ARMC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 591352	NM_001105247.2(ARMC5):c.928_929delinsAA (p.Ala310Asn)	ARMC5 (A342N +2 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2476780	NM_001105247.2(ARMC5):c.962C>T (p.Ala321Val)	ARMC5 (A353V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 746234	NM_001105247.2(ARMC5):c.968G>C (p.Gly323Ala)	ARMC5 (G355A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 737787	NM_001105247.2(ARMC5):c.969C>T (p.Gly323=)	ARMC5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2597694	NM_001105247.2(ARMC5):c.973G>A (p.Glu325Lys)	ARMC5 (E325K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2285530	NM_001105247.2(ARMC5):c.1004G>A (p.Arg335Gln)	ARMC5 (R335Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129649	NM_001105247.2(ARMC5):c.1012A>G (p.Asn338Asp)	ARMC5 (N338D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1686514	NM_001105247.2(ARMC5):c.1039C>T (p.Pro347Ser)	ARMC5 (P347S +2 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 743683	NM_001105247.2(ARMC5):c.1069C>T (p.Arg357Cys)	ARMC5 (R357C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 633679	NM_001105247.2(ARMC5):c.1084C>T (p.Arg362Trp)	ARMC5 (R457W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3048615	NM_001105247.2(ARMC5):c.1090C>T (p.Arg364Ter)	ARMC5 (R364* +2 more)	Single nucleotide variant (nonsense)	ARMC5-related disorder	GPathogenic
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 2398787	NM_001105247.2(ARMC5):c.1097G>A (p.Arg366Gln)	ARMC5 (R366Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519244	NM_001105247.2(ARMC5):c.1136G>A (p.Arg379Gln)	ARMC5 (R411Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285273	NM_001105247.2(ARMC5):c.1144C>T (p.Arg382Cys)	ARMC5 (R477C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 732937	NM_001105247.2(ARMC5):c.1145G>A (p.Arg382His)	ARMC5 (R477H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 737447	NM_001105247.2(ARMC5):c.1152C>T (p.Ser384=)	ARMC5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3315622	NM_001105247.2(ARMC5):c.1153G>A (p.Ala385Thr)	ARMC5 (A417T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129650	NM_001105247.2(ARMC5):c.1153G>T (p.Ala385Ser)	ARMC5 (A385S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 782962	NM_001105247.2(ARMC5):c.1223A>G (p.Gln408Arg)	ARMC5 (Q408R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 743243	NM_001105247.2(ARMC5):c.1227T>C (p.Ala409=)	ARMC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3347175	NM_001105247.2(ARMC5):c.1300G>T (p.Ala434Ser)	ARMC5 (A434S +2 more)	Single nucleotide variant (missense variant)	ARMC5-related disorder	GUncertain significance
Select item 2516078	NM_001105247.2(ARMC5):c.1311G>T (p.Trp437Cys)	ARMC5 (W437C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3315635	NM_001105247.2(ARMC5):c.1317T>A (p.Phe439Leu)	ARMC5 (F439L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 739871	NM_001105247.2(ARMC5):c.1317T>C (p.Phe439=)	ARMC5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1686465	NM_001105247.2(ARMC5):c.1371-3C>A	ARMC5	Single nucleotide variant (intron variant)	ARMC5-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2646481	NM_001105247.2(ARMC5):c.1446G>A (p.Pro482=)	ARMC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3315592	NM_001105247.2(ARMC5):c.1453C>G (p.Pro485Ala)	ARMC5 (P517A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2682510	NM_001105247.2(ARMC5):c.1456A>C (p.Met486Leu)	ARMC5 (M486L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 3