MEI1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147621	GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3	ACO2, CCDC134 +109 more	Copy number gain	See cases	GPathogenic
Select item 538825	NC_000022.11:g.(?_41301335)_(42070317_?)del	LOC130067562, LOC130067566 +78 more	Deletion	Immunodeficiency, common variable, 4	GUncertain significance
Select item 147321	GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1	LOC130067597, LOC130067598 +91 more	Copy number loss	See cases	GUncertain significance
Select item 3056418	NM_152513.4(MEI1):c.-3GA[3] (p.Met1fs)	LOC130067553, MEI1 (M1fs)	Microsatellite (frameshift variant +1 more)	MEI1-related disorder	GBenign
Select item 3125250	NM_152513.4(MEI1):c.31A>C (p.Thr11Pro)	LOC130067553, MEI1 (T11P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778952	NM_152513.4(MEI1):c.61G>A (p.Ala21Thr)	MEI1 (A21T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3125257	NM_152513.4(MEI1):c.79G>T (p.Ala27Ser)	MEI1 (A27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294168	NM_152513.4(MEI1):c.97C>T (p.Pro33Ser)	MEI1 (P33S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3041258	NM_152513.4(MEI1):c.102C>T (p.Arg34=)	MEI1	Single nucleotide variant (synonymous variant)	MEI1-related disorder	GLikely benign
Select item 3125233	NM_152513.4(MEI1):c.107T>A (p.Leu36Gln)	MEI1 (L36Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3394896	NM_152513.4(MEI1):c.125G>T (p.Arg42Leu)	MEI1 (R42L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307596	NM_152513.4(MEI1):c.141C>G (p.Cys47Trp)	MEI1 (C47W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038177	NM_152513.4(MEI1):c.169G>C (p.Val57Leu)	MEI1 (V57L)	Single nucleotide variant (missense variant)	MEI1-related disorder	GBenign
Select item 3037856	NM_152513.4(MEI1):c.174+9G>A	MEI1	Single nucleotide variant (intron variant)	MEI1-related disorder	GBenign
Select item 3383130	NM_152513.4(MEI1):c.186G>C (p.Lys62Asn)	MEI1 (K62N)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 3	GUncertain significance
Select item 3125245	NM_152513.4(MEI1):c.279C>G (p.His93Gln)	MEI1 (H93Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052881	NM_152513.4(MEI1):c.303A>G (p.Leu101=)	MEI1	Single nucleotide variant (synonymous variant)	MEI1-related disorder	GLikely benign
Select item 3294164	NM_152513.4(MEI1):c.307T>C (p.Cys103Arg)	MEI1 (C103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294022	NM_152513.4(MEI1):c.345T>G (p.Ile115Met)	MEI1 (I115M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328088	NM_152513.4(MEI1):c.367A>G (p.Thr123Ala)	MEI1 (T123A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294169	NM_152513.4(MEI1):c.380T>C (p.Leu127Pro)	MEI1 (L127P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743001	NM_152513.4(MEI1):c.393C>T (p.Ile131=)	MEI1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2529478	NM_152513.4(MEI1):c.394C>T (p.Arg132Cys)	MEI1 (R132C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530364	NM_152513.4(MEI1):c.395G>A (p.Arg132His)	MEI1 (R132H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3125252	NM_152513.4(MEI1):c.410A>C (p.Glu137Ala)	MEI1 (E137A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366849	NM_152513.4(MEI1):c.455T>A (p.Leu152Gln)	MEI1 (L152Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125253	NM_152513.4(MEI1):c.514C>T (p.Leu172Phe)	MEI1 (L172F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050506	NM_152513.4(MEI1):c.529+9C>T	MEI1	Single nucleotide variant (intron variant)	MEI1-related disorder	GLikely benign
Select item 3125254	NM_152513.4(MEI1):c.543G>T (p.Glu181Asp)	MEI1 (E181D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3394889	NM_152513.4(MEI1):c.544C>T (p.His182Tyr)	MEI1 (H182Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065761	NM_152513.4(MEI1):c.567C>A (p.Tyr189Ter)	MEI1 (Y189*)	Single nucleotide variant (nonsense)	Hydatidiform mole, recurrent, 3	GUncertain significance
Select item 3042648	NM_152513.4(MEI1):c.615A>G (p.Leu205=)	MEI1	Single nucleotide variant (synonymous variant)	MEI1-related disorder	GLikely benign
Select item 3125255	NM_152513.4(MEI1):c.650G>A (p.Gly217Glu)	MEI1 (G217E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125256	NM_152513.4(MEI1):c.658C>T (p.Arg220Cys)	MEI1 (R220C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538677	NM_152513.4(MEI1):c.787C>G (p.Gln263Glu)	MEI1 (Q263E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125258	NM_152513.4(MEI1):c.815A>G (p.Asn272Ser)	MEI1 (N272S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2216516	NM_152513.4(MEI1):c.839C>T (p.Thr280Ile)	MEI1 (T280I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3394893	NM_152513.4(MEI1):c.851T>C (p.Leu284Ser)	MEI1 (L284S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040923	NM_152513.4(MEI1):c.864+9_864+13del	MEI1	Deletion (intron variant)	MEI1-related disorder	GLikely benign
Select item 2442305	NM_152513.4(MEI1):c.868CTC[1] (p.Leu291del)	MEI1 (L291del)	Microsatellite (inframe_deletion)	Hydatidiform mole, recurrent, 3	GLikely benign
Select item 2525772	NM_152513.4(MEI1):c.913A>G (p.Ile305Val)	MEI1 (I305V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3394892	NM_152513.4(MEI1):c.920C>T (p.Ala307Val)	MEI1 (A307V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307597	NM_152513.4(MEI1):c.931C>G (p.His311Asp)	MEI1 (H311D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3394888	NM_152513.4(MEI1):c.961A>G (p.Ile321Val)	MEI1 (I321V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3394883	NM_152513.4(MEI1):c.977C>T (p.Pro326Leu)	MEI1 (P326L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2079114	NM_152513.4(MEI1):c.1000_1003del (p.Ser334fs)	MEI1 (S334fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2551118	NM_152513.4(MEI1):c.1040G>T (p.Cys347Phe)	MEI1 (C347F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270270	NM_152513.4(MEI1):c.1075T>A (p.Ser359Thr)	MEI1 (S359T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2157329	NM_152513.4(MEI1):c.1097-1G>C	MEI1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3046052	NM_152513.4(MEI1):c.1101C>T (p.Ile367=)	MEI1	Single nucleotide variant (synonymous variant)	MEI1-related disorder	GLikely benign
Select item 3125234	NM_152513.4(MEI1):c.1108G>T (p.Val370Leu)	MEI1 (V370L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125235	NM_152513.4(MEI1):c.1146C>A (p.Asn382Lys)	MEI1 (N382K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778953	NM_152513.4(MEI1):c.1191G>C (p.Leu397=)	MEI1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 627577	NM_152513.4(MEI1):c.1196+1G>A	MEI1	Single nucleotide variant (splice donor variant)	Hydatidiform mole, recurrent, 3	GPathogenic
Select item 3046961	NM_152513.4(MEI1):c.1197-5C>T	MEI1	Single nucleotide variant (intron variant)	MEI1-related disorder	GLikely benign
Select item 3125236	NM_152513.4(MEI1):c.1253G>A (p.Arg418His)	MEI1 (R418H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294167	NM_152513.4(MEI1):c.1270G>A (p.Val424Ile)	MEI1 (V424I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487573	NM_152513.4(MEI1):c.1288G>A (p.Glu430Lys)	MEI1 (E430K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060482	NM_152513.4(MEI1):c.1332-6A>G	MEI1	Single nucleotide variant (intron variant)	MEI1-related disorder	GBenign
Select item 2258090	NM_152513.4(MEI1):c.1403G>A (p.Arg468Gln)	MEI1 (R468Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520685	NM_152513.4(MEI1):c.1412A>C (p.Glu471Ala)	MEI1 (E471A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522751	NM_152513.4(MEI1):c.1531G>T (p.Ala511Ser)	MEI1 (A511S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2068049	NM_152513.4(MEI1):c.1538+1G>A	MEI1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2605213	NM_152513.4(MEI1):c.1562A>C (p.Glu521Ala)	MEI1 (E521A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3394885	NM_152513.4(MEI1):c.1627T>G (p.Phe543Val)	MEI1 (F543V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3394886	NM_152513.4(MEI1):c.1628T>C (p.Phe543Ser)	MEI1 (F543S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3394887	NM_152513.4(MEI1):c.1756G>A (p.Val586Ile)	MEI1 (V586I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125237	NM_152513.4(MEI1):c.1811G>A (p.Arg604Gln)	MEI1 (R604Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125238	NM_152513.4(MEI1):c.1873G>A (p.Val625Met)	MEI1 (V625M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222653	NM_152513.4(MEI1):c.1895A>G (p.Tyr632Cys)	MEI1 (Y632C)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 3294165	NM_152513.4(MEI1):c.1903C>T (p.Leu635Phe)	MEI1 (L635F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785687	NM_152513.4(MEI1):c.1969G>C (p.Glu657Gln)	MEI1 (E657Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3039974	NM_152513.4(MEI1):c.1992C>G (p.Pro664=)	MEI1	Single nucleotide variant (synonymous variant)	MEI1-related disorder	GLikely benign
Select item 3056891	NM_152513.4(MEI1):c.2013T>C (p.Pro671=)	MEI1	Single nucleotide variant (synonymous variant)	MEI1-related disorder	GBenign
Select item 3394884	NM_152513.4(MEI1):c.2014G>A (p.Glu672Lys)	MEI1 (E672K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038584	NM_152513.4(MEI1):c.2120+9A>G	MEI1	Single nucleotide variant (intron variant)	MEI1-related disorder	GBenign
Select item 3060961	NM_152513.4(MEI1):c.2172G>T (p.Ser724=)	MEI1	Single nucleotide variant (synonymous variant)	MEI1-related disorder	GBenign
Select item 2590060	NM_152513.4(MEI1):c.2192G>A (p.Arg731His)	MEI1 (R731H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378591	NM_152513.4(MEI1):c.2197C>T (p.Pro733Ser)	MEI1 (P733S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 627578	NM_152513.4(MEI1):c.2206del (p.Val736fs)	MEI1 (V736fs)	Deletion (frameshift variant)	Hydatidiform mole, recurrent, 3	GPathogenic
Select item 2609186	NM_152513.4(MEI1):c.2225A>G (p.Tyr742Cys)	MEI1 (Y742C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617495	NM_152513.4(MEI1):c.2248A>G (p.Lys750Glu)	MEI1 (K750E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214518	NM_152513.4(MEI1):c.2263C>T (p.Arg755Cys)	MEI1 (R755C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154653	GRCh38/hg38 22q13.2(chr22:41764466-41998153)x3	CCDC134, CENPM +35 more	Copy number gain	See cases	GUncertain significance
Select item 3125239	NM_152513.4(MEI1):c.2269A>G (p.Thr757Ala)	MEI1 (T757A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2370116	NM_152513.4(MEI1):c.2274G>A (p.Met758Ile)	MEI1 (M758I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778954	NM_152513.4(MEI1):c.2303G>A (p.Gly768Asp)	MEI1 (G768D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2356593	NM_152513.4(MEI1):c.2308C>T (p.Pro770Ser)	MEI1 (P770S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535165	NM_152513.4(MEI1):c.2395C>T (p.Arg799Cys)	MEI1 (R799C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262861	NM_152513.4(MEI1):c.2449G>A (p.Asp817Asn)	MEI1 (D817N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125240	NM_152513.4(MEI1):c.2458T>C (p.Ser820Pro)	MEI1 (S820P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601357	NM_152513.4(MEI1):c.2465G>T (p.Gly822Val)	MEI1 (G822V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294374	NM_152513.4(MEI1):c.2473G>A (p.Ala825Thr)	MEI1 (A825T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3125241	NM_152513.4(MEI1):c.2492T>A (p.Val831Glu)	MEI1 (V831E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050018	NM_152513.4(MEI1):c.2535C>T (p.Leu845=)	MEI1	Single nucleotide variant (synonymous variant)	MEI1-related disorder	GLikely benign
Select item 3394894	NM_152513.4(MEI1):c.2555A>G (p.Tyr852Cys)	MEI1 (Y852C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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