ClinVar for Gene (Select 4811) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336388	NM_002508.3(NID1):c.3471G>A (p.Thr1157=)	NID1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3299718	NM_002508.3(NID1):c.1364A>G (p.Asn455Ser)	NID1 (N455S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299717	NM_002508.3(NID1):c.2984C>T (p.Thr995Met)	NID1 (T995M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299716	NM_002508.3(NID1):c.346G>A (p.Gly116Ser)	NID1 (G116S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299715	NM_002508.3(NID1):c.3692C>A (p.Thr1231Asn)	NID1 (T1231N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299714	NM_002508.3(NID1):c.97G>C (p.Glu33Gln)	NID1 (E33Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299713	NM_002508.3(NID1):c.1583C>T (p.Pro528Leu)	NID1 (P528L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248035	NC_000001.10:g.(?_234338304)_(237995947_?)dup	LGALS8, LNCATV +21 more	Duplication	not provided	GUncertain significance
Select item 3247621	NC_000001.10:g.(?_235275379)_(236899040_?)del	EDARADD, ERO1B +13 more	Deletion	Chédiak-Higashi syndrome	GPathogenic
Select item 3242280	GRCh37/hg19 1q42.2-42.3(chr1:234117880-236536349)x1	ARID4B, B3GALNT2 +14 more	Copy number loss	not provided	GPathogenic
Select item 3200018	NM_002508.3(NID1):c.932C>T (p.Thr311Met)	NID1 (T311M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200017	NM_002508.3(NID1):c.844G>A (p.Gly282Arg)	NID1 (G282R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200016	NM_002508.3(NID1):c.835G>A (p.Val279Met)	NID1 (V279M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200015	NM_002508.3(NID1):c.3395G>T (p.Arg1132Leu)	NID1 (R1132L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200014	NM_002508.3(NID1):c.313G>T (p.Ala105Ser)	NID1 (A105S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200013	NM_002508.3(NID1):c.3131G>A (p.Arg1044Gln)	NID1 (R1044Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200012	NM_002508.3(NID1):c.312C>T (p.Val104=)	NID1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3200010	NM_002508.3(NID1):c.2579C>G (p.Ala860Gly)	NID1 (A860G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200008	NM_002508.3(NID1):c.2562A>C (p.Glu854Asp)	NID1 (E854D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200007	NM_002508.3(NID1):c.2321G>A (p.Arg774Gln)	NID1 (R774Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200006	NM_002508.3(NID1):c.2227C>G (p.Gln743Glu)	NID1 (Q743E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200005	NM_002508.3(NID1):c.2209G>A (p.Glu737Lys)	NID1 (E737K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200004	NM_002508.3(NID1):c.2198C>T (p.Thr733Ile)	NID1 (T733I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200003	NM_002508.3(NID1):c.199G>T (p.Asp67Tyr)	NID1 (D67Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200002	NM_002508.3(NID1):c.1970T>C (p.Ile657Thr)	NID1 (I657T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200001	NM_002508.3(NID1):c.1787G>A (p.Arg596Gln)	NID1 (R596Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3200000	NM_002508.3(NID1):c.1679C>T (p.Pro560Leu)	NID1 (P560L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199999	NM_002508.3(NID1):c.124G>C (p.Gly42Arg)	NID1 (G42R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199998	NM_002508.3(NID1):c.105T>A (p.Phe35Leu)	NID1 (F35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063443	GRCh37/hg19 1q42.2-43(chr1:233813555-240578304)x1	ACTN2, ARID4B +24 more	Copy number loss	not specified	GPathogenic
Select item 3063299	GRCh37/hg19 1q42.3-43(chr1:236221501-237380903)x3	ACTN2, EDARADD +8 more	Copy number gain	not specified	GUncertain significance
Select item 2685865	GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)x1	ACTN2, AGT +45 more	Copy number loss	not provided	GPathogenic
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2640102	NM_002508.3(NID1):c.873T>C (p.Asp291=)	NID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623160	NM_002508.3(NID1):c.606G>T (p.Gln202His)	NID1 (Q202H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618278	NM_002508.3(NID1):c.2927C>T (p.Pro976Leu)	NID1 (P976L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617117	NM_002508.3(NID1):c.1246G>A (p.Ala416Thr)	LOC107546745, NID1 (A416T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606365	NM_002508.3(NID1):c.2506G>A (p.Gly836Ser)	NID1 (G836S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604510	NM_002508.3(NID1):c.1911C>A (p.Ser637Arg)	NID1 (S637R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597816	NM_002508.3(NID1):c.515A>G (p.Gln172Arg)	NID1 (Q172R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597815	NM_002508.3(NID1):c.1927A>C (p.Asn643His)	NID1 (N643H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593506	NM_002508.3(NID1):c.1402C>T (p.Arg468Cys)	NID1 (R468C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593399	NM_002508.3(NID1):c.2806G>A (p.Ala936Thr)	NID1 (A936T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	LOC129932908, LOC129932909 +270 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2577840	NC_000001.11:g.(233502994_233518999)_(236093155_236105019)del	ARID4B, B3GALNT2 +162 more	Deletion	Immunodeficiency, common variable, 14	GPathogenic
Select item 2562528	NM_002508.3(NID1):c.3302G>C (p.Arg1101Thr)	NID1 (R1101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557378	NM_002508.3(NID1):c.3098G>T (p.Arg1033Leu)	NID1 (R1033L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554580	NM_002508.3(NID1):c.1862A>G (p.Asp621Gly)	NID1 (D621G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549786	NM_002508.3(NID1):c.2746A>C (p.Thr916Pro)	NID1 (T916P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548355	NM_002508.3(NID1):c.1219G>A (p.Ala407Thr)	LOC107546745, NID1 (A407T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538214	NM_002508.3(NID1):c.2822C>T (p.Pro941Leu)	NID1 (P941L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531485	NM_002508.3(NID1):c.3116A>G (p.Asp1039Gly)	NID1 (D1039G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495098	NM_002508.3(NID1):c.2428C>G (p.Arg810Gly)	NID1 (R810G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494942	NM_002508.3(NID1):c.2563C>G (p.His855Asp)	NID1 (H855D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487903	NM_002508.3(NID1):c.221T>C (p.Val74Ala)	NID1 (V74A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486095	NM_002508.3(NID1):c.1880T>A (p.Leu627Gln)	NID1 (L627Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471205	NM_002508.3(NID1):c.887A>G (p.Tyr296Cys)	NID1 (Y296C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469617	NM_002508.3(NID1):c.1438G>A (p.Val480Ile)	NID1 (V480I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469174	NM_002508.3(NID1):c.158T>C (p.Val53Ala)	NID1 (V53A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464380	NM_002508.3(NID1):c.2188C>T (p.His730Tyr)	NID1 (H730Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460652	NM_002508.3(NID1):c.991G>A (p.Val331Ile)	NID1 (V331I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398783	NM_002508.3(NID1):c.326C>A (p.Ala109Glu)	NID1 (A109E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396665	NM_002508.3(NID1):c.2134G>A (p.Asp712Asn)	NID1 (D712N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394729	NM_002508.3(NID1):c.2048C>T (p.Ala683Val)	NID1 (A683V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386892	NM_002508.3(NID1):c.2518G>A (p.Val840Met)	NID1 (V840M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384741	NM_002508.3(NID1):c.3424A>T (p.Ser1142Cys)	NID1 (S1142C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380348	NM_002508.3(NID1):c.1159C>T (p.Arg387Cys)	LOC107546745, NID1 (R387C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373384	NM_002508.3(NID1):c.3652G>A (p.Gly1218Ser)	NID1 (G1218S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371178	NM_002508.3(NID1):c.1733C>T (p.Thr578Ile)	NID1 (T578I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370544	NM_002508.3(NID1):c.3638C>T (p.Ser1213Leu)	NID1 (S1213L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368262	NM_002508.3(NID1):c.2777C>T (p.Pro926Leu)	NID1 (P926L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362228	NM_002508.3(NID1):c.2105G>A (p.Arg702Gln)	NID1 (R702Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361565	NM_002508.3(NID1):c.2921A>G (p.His974Arg)	NID1 (H974R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351756	NM_002508.3(NID1):c.3098G>A (p.Arg1033His)	NID1 (R1033H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346453	NM_002508.3(NID1):c.2641C>T (p.His881Tyr)	NID1 (H881Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346326	NM_002508.3(NID1):c.251C>T (p.Thr84Met)	NID1 (T84M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2344420	NM_002508.3(NID1):c.2513G>A (p.Arg838His)	NID1 (R838H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341172	NM_002508.3(NID1):c.638A>G (p.Asn213Ser)	NID1 (N213S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2339782	NM_002508.3(NID1):c.1003C>T (p.Arg335Cys)	NID1 (R335C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323036	NM_002508.3(NID1):c.1783G>A (p.Glu595Lys)	NID1 (E595K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318921	NM_002508.3(NID1):c.343G>A (p.Asp115Asn)	NID1 (D115N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306602	NM_002508.3(NID1):c.31G>T (p.Ala11Ser)	NID1 (A11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305493	NM_002508.3(NID1):c.2282A>G (p.Tyr761Cys)	NID1 (Y761C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296523	NM_002508.3(NID1):c.1429C>A (p.Pro477Thr)	NID1 (P477T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288994	NM_002508.3(NID1):c.3586T>A (p.Tyr1196Asn)	NID1 (Y1196N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286236	NM_002508.3(NID1):c.871G>C (p.Asp291His)	NID1 (D291H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284630	NM_002508.3(NID1):c.3658A>G (p.Thr1220Ala)	NID1 (T1220A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284236	NM_002508.3(NID1):c.3283A>G (p.Met1095Val)	NID1 (M1095V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280809	NM_002508.3(NID1):c.2987A>G (p.Asp996Gly)	NID1 (D996G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267865	NM_002508.3(NID1):c.388A>G (p.Ile130Val)	NID1 (I130V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2263448	NM_002508.3(NID1):c.284G>T (p.Gly95Val)	NID1 (G95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250410	NM_002508.3(NID1):c.1469T>C (p.Val490Ala)	NID1 (V490A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248835	NM_002508.3(NID1):c.1399G>A (p.Gly467Arg)	NID1 (G467R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241199	NM_002508.3(NID1):c.1460T>C (p.Leu487Pro)	NID1 (L487P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220679	NM_002508.3(NID1):c.28G>A (p.Ala10Thr)	NID1 (A10T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216113	NM_002508.3(NID1):c.3320A>T (p.Asp1107Val)	NID1 (D1107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210139	NM_002508.3(NID1):c.1684G>A (p.Gly562Ser)	NID1 (G562S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208418	NM_002508.3(NID1):c.1971T>G (p.Ile657Met)	NID1 (I657M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1930498	NM_002508.3(NID1):c.1697A>C (p.His566Pro)	NID1 (H566P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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