ClinVar for Gene (Select 79798) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372536	NM_001105247.2(ARMC5):c.1064T>A (p.Leu355Gln)	ARMC5 (L355Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368670	NM_001105247.2(ARMC5):c.2408T>G (p.Val803Gly)	ARMC5 (V803G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364741	NM_001105247.2(ARMC5):c.481A>G (p.Ile161Val)	ARMC5 (I161V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3356865	NM_001105247.2(ARMC5):c.1825C>T (p.Arg609Cys)	ARMC5 (R609C +2 more)	Single nucleotide variant (missense variant)	ARMC5-related disorder	GUncertain significance
Select item 3355753	NM_001105247.2(ARMC5):c.1561C>T (p.Arg521Cys)	ARMC5 (R521C +2 more)	Single nucleotide variant (missense variant)	ARMC5-related disorder	GUncertain significance
Select item 3355446	NM_001105247.2(ARMC5):c.2374C>T (p.Leu792=)	ARMC5	Single nucleotide variant (synonymous variant +1 more)	ARMC5-related disorder	GLikely benign
Select item 3352143	NM_001105247.2(ARMC5):c.2244C>T (p.Pro748=)	ARMC5	Single nucleotide variant (synonymous variant +1 more)	ARMC5-related disorder	GLikely benign
Select item 3350268	NM_001105247.2(ARMC5):c.1864+40A>G	ARMC5 (E635G)	Single nucleotide variant (missense variant +1 more)	ARMC5-related disorder	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 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 3347080	NM_001105247.2(ARMC5):c.1745C>T (p.Ala582Val)	ARMC5 (A582V +2 more)	Single nucleotide variant (missense variant)	ARMC5-related disorder	GUncertain significance
Select item 3346812	NM_001105247.2(ARMC5):c.1999A>T (p.Lys667Ter)	ARMC5 (K667* +2 more)	Single nucleotide variant (nonsense +1 more)	ARMC5-related disorder	GLikely pathogenic
Select item 3343087	NM_001105247.2(ARMC5):c.2333T>C (p.Leu778Pro)	ARMC5 (L778P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 3315626	NM_001105247.2(ARMC5):c.1545C>G (p.Ile515Met)	ARMC5 (I610M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 3315614	NM_001105247.2(ARMC5):c.2574C>G (p.Ile858Met)	ARMC5 (I858M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3315603	NM_001105247.2(ARMC5):c.1535C>T (p.Ala512Val)	ARMC5 (A512V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3315581	NM_001105247.2(ARMC5):c.2018G>A (p.Arg673Gln)	ARMC5 (R705Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3315572	NM_001105247.2(ARMC5):c.1478C>T (p.Pro493Leu)	ARMC5 (P493L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3248644	NM_001105247.2(ARMC5):c.2548G>T (p.Glu850Ter)	ARMC5 (E850* +2 more)	Single nucleotide variant (nonsense +1 more)	ACTH-independent macronodular adrenal hyperplasia 2	GUncertain significance
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 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 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 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 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 3129657	NM_001105247.2(ARMC5):c.2233G>A (p.Val745Ile)	ARMC5 (V777I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
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 3129655	NM_001105247.2(ARMC5):c.1889C>T (p.Thr630Met)	ARMC5 (T630M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3129654	NM_001105247.2(ARMC5):c.1682C>T (p.Pro561Leu)	ARMC5 (P656L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3129651	NM_001105247.2(ARMC5):c.1490C>T (p.Ser497Leu)	ARMC5 (S529L +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 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 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 3063423	GRCh37/hg19 16p11.2(chr16:31451337-31491435)x1	ARMC5, TGFB1I1 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3061410	NM_001105247.2(ARMC5):c.1864+289C>T	ARMC5 (S718F)	Single nucleotide variant (missense variant +1 more)	ARMC5-related disorder	GUncertain significance
Select item 3057911	NM_001105247.2(ARMC5):c.1864+95C>T	ARMC5	Single nucleotide variant (synonymous variant +1 more)	ARMC5-related disorder	GLikely benign
Select item 3056288	NM_001105247.2(ARMC5):c.1864+66A>G	ARMC5 (M644V)	Single nucleotide variant (missense variant +1 more)	ARMC5-related disorder	GBenign
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 3054269	NM_001105247.2(ARMC5):c.513G>A (p.Gln171=)	ARMC5	Single nucleotide variant (synonymous variant)	ARMC5-related disorder	GLikely benign
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 3051685	NM_001105247.2(ARMC5):c.1864+248C>T	ARMC5	Single nucleotide variant (synonymous variant +1 more)	ARMC5-related disorder	GLikely benign
Select item 3048976	NM_001105247.2(ARMC5):c.2172C>T (p.Val724=)	ARMC5	Single nucleotide variant (synonymous variant +1 more)	ARMC5-related disorder	GLikely benign
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 3047651	NM_001105247.2(ARMC5):c.1864+155C>T	ARMC5	Single nucleotide variant (synonymous variant +1 more)	ARMC5-related disorder	GLikely benign
Select item 3047624	NM_001105247.2(ARMC5):c.2106G>A (p.Ala702=)	ARMC5	Single nucleotide variant (synonymous variant +1 more)	ARMC5-related disorder	GLikely benign
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 3046153	NM_001105247.2(ARMC5):c.1534GCC[4] (p.Ala514_Ile515insAla)	ARMC5	Microsatellite	ARMC5-related disorder	GLikely benign
Select item 3044888	NM_001105247.2(ARMC5):c.2074G>T (p.Ala692Ser)	ARMC5 (A692S +2 more)	Single nucleotide variant (missense variant +1 more)	ARMC5-related disorder	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 3038508	NM_001105247.2(ARMC5):c.1479G>A (p.Pro493=)	ARMC5	Single nucleotide variant (synonymous variant)	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 3037824	NM_001105247.2(ARMC5):c.2058G>A (p.Ala686=)	ARMC5	Single nucleotide variant (synonymous variant +1 more)	ARMC5-related disorder	GBenign
Select item 3036508	NM_001105247.2(ARMC5):c.2704C>T (p.Leu902=)	ARMC5	Single nucleotide variant (synonymous variant +1 more)	ARMC5-related disorder	GLikely benign
Select item 3036311	NM_001105247.2(ARMC5):c.1671C>T (p.Gly557=)	ARMC5	Single nucleotide variant (synonymous 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 3035249	NM_001105247.2(ARMC5):c.723G>T (p.Pro241=)	ARMC5	Single nucleotide variant (synonymous variant)	ARMC5-related disorder	GLikely benign
Select item 3034772	NM_001105247.2(ARMC5):c.1647C>T (p.Tyr549=)	ARMC5	Single nucleotide variant (synonymous variant)	ARMC5-related disorder	GLikely benign
Select item 3032372	NM_001105247.2(ARMC5):c.2307C>T (p.Thr769=)	ARMC5	Single nucleotide variant (synonymous variant +1 more)	ARMC5-related disorder	GLikely benign
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 3032211	NM_001105247.2(ARMC5):c.1973C>T (p.Ala658Val)	ARMC5 (A658V +2 more)	Single nucleotide variant (missense variant +1 more)	ARMC5-related disorder	GUncertain significance
Select item 3031186	NM_001105247.2(ARMC5):c.1473C>T (p.Pro491=)	ARMC5	Single nucleotide variant (synonymous variant)	ARMC5-related disorder	GLikely benign
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 3030836	NM_001105247.2(ARMC5):c.621C>T (p.Cys207=)	ARMC5	Single nucleotide variant (synonymous variant)	ARMC5-related disorder	GLikely benign
Select item 3030229	NM_001105247.2(ARMC5):c.2195C>T (p.Ser732Phe)	ARMC5 (S732F +2 more)	Single nucleotide variant (missense variant +1 more)	ARMC5-related disorder	GUncertain significance
Select item 3029484	NM_001105247.2(ARMC5):c.1786C>T (p.Leu596=)	ARMC5	Single nucleotide variant (synonymous variant)	ARMC5-related disorder	GLikely benign
Select item 3029032	NM_001105247.2(ARMC5):c.2257C>T (p.Leu753=)	ARMC5	Single nucleotide variant (synonymous variant +1 more)	ARMC5-related disorder	GLikely benign
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 2682515	NM_001105247.2(ARMC5):c.1771C>T (p.Leu591=)	ARMC5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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
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 2646482	NM_001105247.2(ARMC5):c.1575C>G (p.Ala525=)	ARMC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646481	NM_001105247.2(ARMC5):c.1446G>A (p.Pro482=)	ARMC5	Single nucleotide variant (synonymous variant)	not provided	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 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 2635910	NM_001105247.2(ARMC5):c.1505G>A (p.Arg502His)	ARMC5 (R502H +2 more)	Single nucleotide variant (missense variant)	ARMC5-related disorder	GUncertain significance
Select item 2635030	NM_001105247.2(ARMC5):c.1864+168C>T	ARMC5 (P678S)	Single nucleotide variant (missense variant +1 more)	ARMC5-related disorder	GUncertain significance
Select item 2634894	NM_001105247.2(ARMC5):c.1769C>T (p.Ala590Val)	ARMC5 (A590V +2 more)	Single nucleotide variant (missense variant)	ARMC5-related disorder	GUncertain significance
Select item 2634528	NM_001105247.2(ARMC5):c.1864+297G>T	ARMC5 (G721C)	Single nucleotide variant (missense variant +1 more)	ARMC5-related disorder	GUncertain significance
Select item 2632699	NM_001105247.2(ARMC5):c.1502del (p.Pro501fs)	ARMC5 (P501fs +2 more)	Deletion (frameshift variant)	ARMC5-related disorder	GLikely pathogenic
Select item 2631906	NM_001105247.2(ARMC5):c.1864+179C>A	ARMC5 (H681Q)	Single nucleotide variant (missense variant +1 more)	ARMC5-related disorder	GUncertain significance
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 2630529	NM_001105247.2(ARMC5):c.1780G>C (p.Ala594Pro)	ARMC5 (A594P +2 more)	Single nucleotide variant (missense variant)	ARMC5-related disorder	GUncertain significance
Select item 2629617	NM_001105247.2(ARMC5):c.1502C>T (p.Pro501Leu)	ARMC5 (P501L +2 more)	Single nucleotide variant (missense variant)	ARMC5-related disorder	GUncertain significance
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 2620113	NM_001105247.2(ARMC5):c.2047C>T (p.Leu683Phe)	ARMC5 (L683F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2575999	NM_001105247.2(ARMC5):c.2261T>C (p.Leu754Pro)	ARMC5 (L754P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2560148	NM_001105247.2(ARMC5):c.2635C>T (p.Arg879Trp)	ARMC5 (R911W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2535805	NM_001105247.2(ARMC5):c.1679G>A (p.Gly560Asp)	ARMC5 (G560D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528956	NM_001105247.2(ARMC5):c.1606C>T (p.Pro536Ser)	ARMC5 (P568S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522654	NM_001105247.2(ARMC5):c.1523G>C (p.Gly508Ala)	ARMC5 (G540A +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 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 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

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