ClinVar for Gene (Select 8379) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 131

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292524	NM_001013836.2(MAD1L1):c.682C>G (p.Leu228Val)	MAD1L1 (L136V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292523	NM_001013836.2(MAD1L1):c.974G>C (p.Gly325Ala)	MAD1L1 (G233A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292522	NM_001013836.2(MAD1L1):c.1222C>T (p.Arg408Trp)	MAD1L1 (R408W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292521	NM_001013836.2(MAD1L1):c.719C>G (p.Ala240Gly)	MAD1L1 (A148G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3238790	NM_001013836.2(MAD1L1):c.1948C>T (p.Arg650Trp)	MAD1L1 (R106W +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition	GUncertain significance
Select item 3121964	NM_001013836.2(MAD1L1):c.812A>C (p.Glu271Ala)	MAD1L1 (E271A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121963	NM_001013836.2(MAD1L1):c.403C>G (p.Gln135Glu)	MAD1L1 (Q135E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121962	NM_001013836.2(MAD1L1):c.388C>T (p.Arg130Cys)	MAD1L1 (R130C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121961	NM_001013836.2(MAD1L1):c.374A>G (p.Gln125Arg)	MAD1L1 (Q125R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121959	NM_001013836.2(MAD1L1):c.241G>A (p.Ala81Thr)	MAD1L1 (A81T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121958	NM_001013836.2(MAD1L1):c.225G>T (p.Glu75Asp)	MAD1L1 (E75D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121957	NM_001013836.2(MAD1L1):c.2153C>T (p.Ala718Val)	MAD1L1 (A174V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121956	NM_001013836.2(MAD1L1):c.2083C>T (p.Arg695Trp)	MAD1L1 (R151W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121955	NM_001013836.2(MAD1L1):c.206G>A (p.Arg69Gln)	MAD1L1 (R69Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121954	NM_001013836.2(MAD1L1):c.1729G>A (p.Ala577Thr)	MAD1L1 (A33T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121952	NM_001013836.2(MAD1L1):c.1540C>T (p.Arg514Trp)	MAD1L1 (R422W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121951	NM_001013836.2(MAD1L1):c.1475T>C (p.Leu492Pro)	LOC126859925, MAD1L1 (L400P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121950	NM_001013836.2(MAD1L1):c.1429C>G (p.Leu477Val)	LOC126859925, MAD1L1 (L385V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121949	NM_001013836.2(MAD1L1):c.1303A>G (p.Met435Val)	MAD1L1 (M343V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121948	NM_001013836.2(MAD1L1):c.1183C>T (p.Arg395Trp)	MAD1L1 (R303W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121947	NM_001013836.2(MAD1L1):c.1111G>C (p.Glu371Gln)	MAD1L1 (E279Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121946	NM_001013836.2(MAD1L1):c.1074C>T (p.Ser358=)	MAD1L1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3062980	GRCh37/hg19 7p22.3-22.2(chr7:2163435-2987198)x3	AMZ1, BRAT1 +11 more	Copy number gain	not specified	GUncertain significance
Select item 3062963	GRCh37/hg19 7p22.3-22.2(chr7:2088540-3127784)x3	AMZ1, BRAT1 +11 more	Copy number gain	not specified	GUncertain significance
Select item 3062959	GRCh37/hg19 7p22.3(chr7:43360-2020306)x1	ADAP1, C7orf50 +19 more	Copy number loss	not specified	GPathogenic
Select item 3024872	NM_001013836.2(MAD1L1):c.708G>C (p.Glu236Asp)	MAD1L1 (E144D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2685228	GRCh37/hg19 7p22.3(chr7:1775509-1905919)x1	ELFN1, MAD1L1	Copy number loss	not provided	GUncertain significance
Select item 2684473	GRCh37/hg19 7p22.3(chr7:2163436-2610093)x3	BRAT1, CHST12 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2684470	GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3	RNF216, SDK1 +48 more	Copy number gain	not provided	GPathogenic
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 2657223	NM_001013836.2(MAD1L1):c.323C>T (p.Thr108Met)	MAD1L1 (T108M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2657222	NM_001013836.2(MAD1L1):c.1377C>T (p.Ala459=)	MAD1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657221	NM_001013836.2(MAD1L1):c.2031A>G (p.Leu677=)	MAD1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2599619	NM_001013836.2(MAD1L1):c.752G>A (p.Arg251Gln)	MAD1L1 (R159Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2576571	NM_001013836.2(MAD1L1):c.1396C>T (p.Gln466Ter)	MAD1L1 (Q374* +1 more)	Single nucleotide variant (nonsense)	Mosaic variegated aneuploidy syndrome 1	GPathogenic
Select item 2576570	NM_001013836.2(MAD1L1):c.820_823del (p.Glu274fs)	MAD1L1 (E182fs +1 more)	Microsatellite (frameshift variant)	Mosaic variegated aneuploidy syndrome 1	GPathogenic
Select item 2539220	NM_001013836.2(MAD1L1):c.1880A>G (p.Gln627Arg)	MAD1L1 (Q535R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526393	NM_001013836.2(MAD1L1):c.799G>A (p.Ala267Thr)	MAD1L1 (A175T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2524344	NM_001013836.2(MAD1L1):c.286T>C (p.Tyr96His)	MAD1L1 (Y96H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492886	NM_001013836.2(MAD1L1):c.1240A>G (p.Ile414Val)	MAD1L1 (I414V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486238	NM_001013836.2(MAD1L1):c.1066A>G (p.Thr356Ala)	MAD1L1 (T356A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473078	NM_001013836.2(MAD1L1):c.1667G>T (p.Arg556Leu)	MAD1L1 (R556L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467572	NM_001013836.2(MAD1L1):c.1750G>C (p.Val584Leu)	MAD1L1 (V584L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467196	NM_001013836.2(MAD1L1):c.2149G>A (p.Val717Met)	MAD1L1 (V173M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443778	NM_001013836.2(MAD1L1):c.1882G>T (p.Glu628Ter)	MAD1L1 (E536* +1 more)	Single nucleotide variant (nonsense)	Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition	GPathogenic
Select item 2443777	NM_001013836.2(MAD1L1):c.196C>T (p.Gln66Ter)	MAD1L1	Single nucleotide variant (nonsense +1 more)	Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition	GPathogenic
Select item 2389096	NM_001013836.2(MAD1L1):c.323C>A (p.Thr108Lys)	MAD1L1 (T108K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347017	NM_001013836.2(MAD1L1):c.2128G>A (p.Glu710Lys)	MAD1L1 (E166K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340304	NM_001013836.2(MAD1L1):c.874C>T (p.Arg292Cys)	MAD1L1 (R200C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318426	NM_001013836.2(MAD1L1):c.1790C>T (p.Ser597Leu)	MAD1L1 (S505L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314086	NM_001013836.2(MAD1L1):c.1646C>A (p.Pro549His)	MAD1L1 (P457H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291182	NM_001013836.2(MAD1L1):c.1310A>T (p.Glu437Val)	MAD1L1 (E345V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289859	NM_001013836.2(MAD1L1):c.544C>T (p.Arg182Cys)	MAD1L1 (R90C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288319	NM_001013836.2(MAD1L1):c.547C>A (p.Leu183Met)	MAD1L1 (L183M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286884	NM_001013836.2(MAD1L1):c.1949G>T (p.Arg650Leu)	MAD1L1 (R650L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282674	NM_001013836.2(MAD1L1):c.1958C>G (p.Ser653Trp)	MAD1L1 (S109W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266246	NM_001013836.2(MAD1L1):c.40C>G (p.Leu14Val)	MAD1L1 (L14V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265956	NM_001013836.2(MAD1L1):c.109G>T (p.Ala37Ser)	MAD1L1 (A37S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265492	NM_001013836.2(MAD1L1):c.277G>A (p.Ala93Thr)	MAD1L1 (A93T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248760	NM_001013836.2(MAD1L1):c.1995C>G (p.Phe665Leu)	MAD1L1 (F573L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248165	NM_001013836.2(MAD1L1):c.1586G>A (p.Arg529Gln)	MAD1L1 (R529Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232076	NM_001013836.2(MAD1L1):c.1997A>G (p.Lys666Arg)	MAD1L1 (K122R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216089	NM_001013836.2(MAD1L1):c.1834G>A (p.Glu612Lys)	MAD1L1 (E68K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808366	GRCh37/hg19 7p22.3(chr7:2262524-2433729)x3	EIF3B, MAD1L1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1711132	GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	MAD1L1, MAFK +73 more	Copy number gain	See cases	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1340418	GRCh37/hg19 7p22.3(chr7:989697-2138529)x3	ADAP1, C7orf50 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1340052	GRCh37/hg19 7p22.3(chr7:1871564-2430156)x3	EIF3B, MAD1L1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1013533	NM_001013836.2(MAD1L1):c.1266G>A (p.Leu422=)	MAD1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 980822	GRCh37/hg19 7p22.3(chr7:2082065-2669221)x3	BRAT1, CHST12 +7 more	Copy number gain	not provided	GUncertain significance
Select item 980818	GRCh37/hg19 7p22.3(chr7:2169252-2577781)x3	BRAT1, CHST12 +6 more	Copy number gain	not provided	GUncertain significance
Select item 980817	GRCh37/hg19 7p22.3(chr7:2155103-2629996)x3	BRAT1, CHST12 +7 more	Copy number gain	not provided	GUncertain significance
Select item 814915	GRCh37/hg19 7p22.3(chr7:1989321-2171115)x1	MAD1L1	Copy number loss	not provided	GLikely benign
Select item 814914	GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3	ACTB, AIMP2 +54 more	Copy number gain	not provided	GPathogenic
Select item 789755	NM_001013836.2(MAD1L1):c.1999-10T>C	MAD1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 787047	NM_001013836.2(MAD1L1):c.958C>T (p.Leu320=)	MAD1L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785208	NM_001013836.2(MAD1L1):c.1959G>A (p.Ser653=)	MAD1L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771869	NM_001013836.2(MAD1L1):c.1461C>T (p.Ala487=)	LOC126859925, MAD1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 758233	NM_001013836.2(MAD1L1):c.1263G>A (p.Glu421=)	MAD1L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722376	NM_001013836.2(MAD1L1):c.810-10G>A	MAD1L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 688582	GRCh37/hg19 7p22.3-22.2(chr7:36616-4298168)x1	ADAP1, AMZ1 +32 more	Copy number loss	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 686544	GRCh37/hg19 7p22.3(chr7:2166170-2189394)x1	MAD1L1	Copy number loss	not provided	GUncertain significance
Select item 686543	GRCh37/hg19 7p22.3(chr7:2214169-2380156)x1	MAD1L1, MRM2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 685915	GRCh37/hg19 7p22.3(chr7:1835893-2021563)x3	MAD1L1	Copy number gain	not provided	GUncertain significance
Select item 563355	GRCh37/hg19 7p22.3(chr7:1509465-1948518)x3	TMEM184A, PSMG3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 563350	GRCh37/hg19 7p22.3(chr7:2219184-2612472)x1	BRAT1, EIF3B +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 493608	GRCh37/hg19 7p22.3(chr7:2126598-2329197)x3	MAD1L1, MRM2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 443916	GRCh37/hg19 7p22.3-22.2(chr7:43360-3642604)x1	ADAP1, AMZ1 +32 more	Copy number loss	See cases	GPathogenic
Select item 443817	GRCh37/hg19 7p22.3(chr7:43360-2057743)x1	ADAP1, C7orf50 +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 443071	GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 443024	GRCh37/hg19 7p22.3-22.1(chr7:1201674-5175651)x1	AMZ1, AP5Z1 +26 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 442503	GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3	DAGLB, DNAAF5 +76 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2