ClinVar for Gene (Select 150365) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148861	GRCh37/hg19 22q13.2(chr22:41591000-42869987)x1	ACO2, CCDC134 +29 more	Copy number loss	not provided	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 3125257	NM_152513.4(MEI1):c.79G>T (p.Ala27Ser)	MEI1 (A27S)	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 3125255	NM_152513.4(MEI1):c.650G>A (p.Gly217Glu)	MEI1 (G217E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3125253	NM_152513.4(MEI1):c.514C>T (p.Leu172Phe)	MEI1 (L172F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3125251	NM_152513.4(MEI1):c.3299C>T (p.Ser1100Leu)	MEI1 (S1100L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3125249	NM_152513.4(MEI1):c.3196G>A (p.Ala1066Thr)	MEI1 (A1066T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125248	NM_152513.4(MEI1):c.3098C>T (p.Thr1033Ile)	MEI1 (T1033I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125247	NM_152513.4(MEI1):c.2903C>T (p.Thr968Ile)	MEI1 (T968I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125246	NM_152513.4(MEI1):c.2850C>G (p.Asp950Glu)	LOC130067556, MEI1 (D950E)	Single nucleotide variant (missense variant)	not specified	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 3125244	NM_152513.4(MEI1):c.2714C>T (p.Ser905Leu)	MEI1 (S905L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125243	NM_152513.4(MEI1):c.2648G>A (p.Arg883Gln)	MEI1 (R883Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3125240	NM_152513.4(MEI1):c.2458T>C (p.Ser820Pro)	MEI1 (S820P)	Single nucleotide variant (missense variant)	not specified	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 3125238	NM_152513.4(MEI1):c.1873G>A (p.Val625Met)	MEI1 (V625M)	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 3125236	NM_152513.4(MEI1):c.1253G>A (p.Arg418His)	MEI1 (R418H)	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 3125234	NM_152513.4(MEI1):c.1108G>T (p.Val370Leu)	MEI1 (V370L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3065761	NM_152513.4(MEI1):c.567C>A (p.Tyr189Ter)	MEI1 (Y189*)	Single nucleotide variant (nonsense)	Hydatidiform mole, recurrent, 3	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 3060961	NM_152513.4(MEI1):c.2172G>T (p.Ser724=)	MEI1	Single nucleotide variant (synonymous variant)	MEI1-related disorder	GBenign
Select item 3060482	NM_152513.4(MEI1):c.1332-6A>G	MEI1	Single nucleotide variant (intron variant)	MEI1-related disorder	GBenign
Select item 3057136	NM_152513.4(MEI1):c.3346-8_3346-7dup	MEI1	Duplication (intron 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 3056418	NM_152513.4(MEI1):c.-3GA[3] (p.Met1fs)	LOC130067553, MEI1 (M1fs)	Microsatellite (frameshift variant +1 more)	MEI1-related disorder	GBenign
Select item 3055848	NM_152513.4(MEI1):c.3054C>A (p.Ser1018=)	MEI1	Single nucleotide variant (synonymous variant)	MEI1-related disorder	GBenign
Select item 3055512	NM_152513.4(MEI1):c.3660C>T (p.Phe1220=)	MEI1	Single nucleotide variant (synonymous variant)	MEI1-related disorder	GBenign
Select item 3055293	NM_152513.4(MEI1):c.3346-7del	MEI1	Deletion (intron variant)	MEI1-related disorder	GBenign
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 3052469	NM_152513.4(MEI1):c.3145A>G (p.Lys1049Glu)	MEI1 (K1049E)	Single nucleotide variant (missense variant)	MEI1-related disorder	GLikely benign
Select item 3050506	NM_152513.4(MEI1):c.529+9C>T	MEI1	Single nucleotide variant (intron variant)	MEI1-related disorder	GLikely benign
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 3049306	NM_152513.4(MEI1):c.3435C>T (p.His1145=)	MEI1	Single nucleotide variant (synonymous variant)	MEI1-related disorder	GBenign
Select item 3047620	NM_152513.4(MEI1):c.2805C>T (p.Leu935=)	MEI1	Single nucleotide variant (synonymous variant)	MEI1-related disorder	GLikely benign
Select item 3046961	NM_152513.4(MEI1):c.1197-5C>T	MEI1	Single nucleotide variant (intron variant)	MEI1-related disorder	GLikely benign
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 3042648	NM_152513.4(MEI1):c.615A>G (p.Leu205=)	MEI1	Single nucleotide variant (synonymous variant)	MEI1-related disorder	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 3041195	NM_152513.4(MEI1):c.3346-6C>A	MEI1	Single nucleotide variant (intron variant)	MEI1-related disorder	GLikely benign
Select item 3040923	NM_152513.4(MEI1):c.864+9_864+13del	MEI1	Deletion (intron variant)	MEI1-related disorder	GLikely benign
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 3038584	NM_152513.4(MEI1):c.2120+9A>G	MEI1	Single nucleotide variant (intron variant)	MEI1-related disorder	GBenign
Select item 3038192	NM_152513.4(MEI1):c.2557T>A (p.Ser853Thr)	MEI1 (S853T)	Single nucleotide variant (missense variant)	MEI1-related disorder	GBenign
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 3037661	NM_152513.4(MEI1):c.2845A>G (p.Thr949Ala)	MEI1 (T949A)	Single nucleotide variant (missense variant)	MEI1-related disorder	GBenign
Select item 3037166	NM_152513.4(MEI1):c.3346-8_3346-7del	MEI1	Deletion (intron variant)	MEI1-related disorder	GBenign
Select item 3034291	NM_152513.4(MEI1):c.2816-9C>T	MEI1	Single nucleotide variant (intron variant)	MEI1-related disorder	GLikely benign
Select item 3033160	NM_152513.4(MEI1):c.2667C>A (p.Ile889=)	MEI1	Single nucleotide variant (synonymous variant)	MEI1-related disorder	GLikely benign
Select item 3026274	NM_152513.4(MEI1):c.2672A>C (p.Gln891Pro)	MEI1 (Q891P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685679	GRCh37/hg19 22q13.2(chr22:42178402-42232146)x1	CCDC134, MEI1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2664506	GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3	ACO2, ADSL +25 more	Copy number gain	Syndromic craniosynostosis	GLikely pathogenic
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 2609186	NM_152513.4(MEI1):c.2225A>G (p.Tyr742Cys)	MEI1 (Y742C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2601357	NM_152513.4(MEI1):c.2465G>T (p.Gly822Val)	MEI1 (G822V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2578924	NM_152513.4(MEI1):c.3292C>T (p.Arg1098Ter)	MEI1 (R1098*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 2548871	NM_152513.4(MEI1):c.2929G>T (p.Ala977Ser)	MEI1 (A977S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539553	NM_152513.4(MEI1):c.2851G>A (p.Val951Met)	LOC130067556, MEI1 (V951M)	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 2535165	NM_152513.4(MEI1):c.2395C>T (p.Arg799Cys)	MEI1 (R799C)	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 2529478	NM_152513.4(MEI1):c.394C>T (p.Arg132Cys)	MEI1 (R132C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2522751	NM_152513.4(MEI1):c.1531G>T (p.Ala511Ser)	MEI1 (A511S)	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 2513929	NM_152513.4(MEI1):c.2572A>G (p.Thr858Ala)	MEI1 (T858A)	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 2442306	NM_152513.4(MEI1):c.3772G>T (p.Asp1258Tyr)	MEI1 (D1258Y)	Single nucleotide variant (missense variant)	MEI1-related disorder +1 more	GConflicting classifications of pathogenicity
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 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2411377	NM_152513.4(MEI1):c.2570A>G (p.Asp857Gly)	MEI1 (D857G)	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 2370116	NM_152513.4(MEI1):c.2274G>A (p.Met758Ile)	MEI1 (M758I)	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 2356593	NM_152513.4(MEI1):c.2308C>T (p.Pro770Ser)	MEI1 (P770S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344707	NM_152513.4(MEI1):c.3782G>T (p.Cys1261Phe)	MEI1 (C1261F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344705	NM_152513.4(MEI1):c.3530C>T (p.Thr1177Ile)	MEI1 (T1177I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338699	NM_152513.4(MEI1):c.2603C>A (p.Thr868Asn)	MEI1 (T868N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336269	NM_152513.4(MEI1):c.3569A>G (p.His1190Arg)	MEI1 (H1190R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332717	NM_152513.4(MEI1):c.3022C>G (p.Leu1008Val)	MEI1 (L1008V)	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 2307597	NM_152513.4(MEI1):c.931C>G (p.His311Asp)	MEI1 (H311D)	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 2302762	NM_152513.4(MEI1):c.2562C>G (p.Ser854Arg)	MEI1 (S854R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296061	NM_152513.4(MEI1):c.3293G>A (p.Arg1098Gln)	MEI1 (R1098Q)	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 2294022	NM_152513.4(MEI1):c.345T>G (p.Ile115Met)	MEI1 (I115M)	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 2262861	NM_152513.4(MEI1):c.2449G>A (p.Asp817Asn)	MEI1 (D817N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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