MEIS2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149530	GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3	ACTC1, APBA2 +363 more	Copy number gain	See cases	GPathogenic
Select item 146702	GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1	ACTC1, APBA2 +346 more	Copy number loss	See cases	GPathogenic
Select item 155138	GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1	SNORD115-20, SNORD115-21 +314 more	Copy number loss	See cases	GPathogenic
Select item 57876	GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1	LOC132090301, LOC132090302 +178 more	Copy number loss	See cases	GPathogenic
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 57878	GRCh38/hg38 15q14(chr15:34588015-39280404)x1	ACTC1, AQR +99 more	Copy number loss	See cases	GPathogenic
Select item 57226	GRCh38/hg38 15q14(chr15:34995451-39735062)x1	CDIN1, DPH6 +92 more	Copy number loss	See cases	GPathogenic
Select item 153984	GRCh38/hg38 15q14(chr15:36264417-38045964)x3	CDIN1, LINC02345 +25 more	Copy number gain	See cases	GUncertain significance
Select item 2411674	NM_170675.5(MEIS2):c.1427C>T (p.Ala476Val)	MEIS2 (A469V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2292159	NM_170675.5(MEIS2):c.1416G>A (p.Met472Ile)	MEIS2 (M465I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2312620	NM_170675.5(MEIS2):c.1365G>C (p.Gln455His)	MEIS2 (Q448H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2645153	NM_170675.5(MEIS2):c.1341C>A (p.His447Gln)	MEIS2 (H440Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2314412	NM_170675.5(MEIS2):c.1324G>A (p.Gly442Arg)	MEIS2 (G435R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2232077	NM_170675.5(MEIS2):c.1271dup (p.Met425fs)	MEIS2 (M425fs +1 more)	Duplication (frameshift variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2645154	NM_170675.5(MEIS2):c.1262A>G (p.His421Arg)	MEIS2 (H414R +1 more)	Single nucleotide variant (missense variant +2 more)	MEIS2-related condition +1 more	GBenign/Likely benign
Select item 2303524	NM_170675.5(MEIS2):c.1166G>C (p.Gly389Ala)	MEIS2 (G389A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2473365	NM_170675.5(MEIS2):c.1157G>A (p.Ser386Asn)	MEIS2 (S379N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2581030	NM_170675.5(MEIS2):c.1148-1G>T	MEIS2	Single nucleotide variant (splice acceptor variant)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GUncertain significance
Select item 2036593	NM_170675.5(MEIS2):c.1147+359A>G	MEIS2 (M295V +4 more)	Single nucleotide variant (missense variant +2 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GBenign
Select item 2418575	NM_170675.5(MEIS2):c.1147+356G>A	MEIS2 (G294S +4 more)	Single nucleotide variant (missense variant +2 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GUncertain significance
Select item 2954754	NM_170675.5(MEIS2):c.1147+355G>T	MEIS2 (M368I +4 more)	Single nucleotide variant (missense variant +2 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GUncertain significance
Select item 1805395	NM_170675.5(MEIS2):c.1147+347del	MEIS2 (S291fs +4 more)	Deletion (frameshift variant +2 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GUncertain significance
Select item 2832170	NM_170675.5(MEIS2):c.1147+344A>G	MEIS2 (M290V +4 more)	Single nucleotide variant (missense variant +2 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GUncertain significance
Select item 1658294	NM_170675.5(MEIS2):c.1147+18G>A	MEIS2	Single nucleotide variant (intron variant)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely benign
Select item 2055374	NM_170675.5(MEIS2):c.1147+17C>T	MEIS2	Single nucleotide variant (intron variant)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely benign
Select item 854177	NM_170675.5(MEIS2):c.1129A>C (p.Met377Leu)	MEIS2 (M282L +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GUncertain significance
Select item 1804981	NM_170675.5(MEIS2):c.1114del (p.Asp372fs)	MEIS2 (D277fs +4 more)	Deletion (frameshift variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GUncertain significance
Select item 2956916	NM_170675.5(MEIS2):c.1065A>G (p.Gln355=)	MEIS2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely benign
Select item 1878354	NM_170675.5(MEIS2):c.1061G>A (p.Ser354Asn)	MEIS2 (S354N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1334074	NM_170675.5(MEIS2):c.1042del (p.Leu348fs)	MEIS2 (L335fs +1 more)	Deletion (frameshift variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GUncertain significance
Select item 1432617	NM_170675.5(MEIS2):c.1031G>A (p.Arg344Gln)	MEIS2 (R331Q +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GUncertain significance
Select item 1683752	NM_170675.5(MEIS2):c.1025C>G (p.Ser342Ter)	MEIS2 (S254* +2 more)	Single nucleotide variant (nonsense +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely pathogenic
Select item 224962	NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del)	MEIS2 (R320del +2 more)	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1709727	NM_170675.5(MEIS2):c.999A>C (p.Arg333Ser)	MEIS2 (R245S +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely pathogenic
Select item 2575802	NM_170675.5(MEIS2):c.994A>G (p.Arg332Gly)	MEIS2 (R244G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1199240	NM_170675.5(MEIS2):c.992G>A (p.Arg331Lys)	MEIS2 (R243K +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GPathogenic
Select item 2662809	NM_170675.5(MEIS2):c.991A>G (p.Arg331Gly)	MEIS2 (R243G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 429478	NM_170675.5(MEIS2):c.987T>A (p.Asn329Lys)	MEIS2 (N316K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1804899	NM_170675.5(MEIS2):c.986A>G (p.Asn329Ser)	MEIS2 (N241S +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely pathogenic
Select item 545068	NM_170675.5(MEIS2):c.978-2A>G	MEIS2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1285573	NM_170675.5(MEIS2):c.977+2T>G	MEIS2	Single nucleotide variant (splice donor variant)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GPathogenic
Select item 2575990	NM_170675.5(MEIS2):c.977+1G>A	MEIS2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1700237	NM_170675.5(MEIS2):c.973A>G (p.Asn325Asp)	MEIS2 (N237D +2 more)	Single nucleotide variant (missense variant)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely pathogenic
Select item 1334732	NM_170675.5(MEIS2):c.968T>G (p.Val323Gly)	MEIS2 (V235G +2 more)	Single nucleotide variant (missense variant)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely pathogenic
Select item 423971	NM_170675.5(MEIS2):c.965A>T (p.Gln322Leu)	MEIS2 (Q309L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 975446	NM_170675.5(MEIS2):c.964C>G (p.Gln322Glu)	MEIS2 (Q234E +2 more)	Single nucleotide variant (missense variant)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely pathogenic
Select item 707087	NM_170675.5(MEIS2):c.939G>A (p.Ala313=)	MEIS2	Single nucleotide variant (synonymous variant)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely benign
Select item 803063	NM_170675.5(MEIS2):c.934_937del (p.Leu312fs)	MEIS2 (L224fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 1693101	NM_170675.5(MEIS2):c.916G>A (p.Glu306Lys)	MEIS2 (E218K +2 more)	Single nucleotide variant (missense variant)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies +1 more	GLikely pathogenic
Select item 773960	NM_170675.5(MEIS2):c.915C>T (p.Ser305=)	MEIS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1706599	NM_170675.5(MEIS2):c.907T>A (p.Tyr303Asn)	MEIS2 (Y215N +2 more)	Single nucleotide variant (missense variant)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely pathogenic
Select item 418712	NM_170675.5(MEIS2):c.905C>T (p.Pro302Leu)	MEIS2 (P289L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2758178	NM_170675.5(MEIS2):c.904C>A (p.Pro302Thr)	MEIS2 (P214T +2 more)	Single nucleotide variant (missense variant)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GUncertain significance
Select item 1687173	NM_170675.5(MEIS2):c.903T>A (p.His301Gln)	MEIS2 (H213Q +2 more)	Single nucleotide variant (missense variant)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GUncertain significance
Select item 1563148	NM_170675.5(MEIS2):c.897C>T (p.Leu299=)	MEIS2	Single nucleotide variant (synonymous variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely benign
Select item 1033183	NM_170675.5(MEIS2):c.877G>C (p.Ala293Pro)	MEIS2 (A280P +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely pathogenic
Select item 2630216	NM_170675.5(MEIS2):c.855A>G (p.Lys285=)	MEIS2	Single nucleotide variant (synonymous variant +1 more)	MEIS2-related condition	GUncertain significance
Select item 559625	NM_170675.5(MEIS2):c.825dup (p.Arg276fs)	MEIS2 (R276fs +2 more)	Duplication (frameshift variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GPathogenic
Select item 3046663	NM_170675.5(MEIS2):c.813T>C (p.Asp271=)	MEIS2	Single nucleotide variant (synonymous variant +1 more)	MEIS2-related condition	GLikely benign
Select item 705193	NM_170675.5(MEIS2):c.810G>A (p.Pro270=)	MEIS2	Single nucleotide variant (synonymous variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies +1 more	GLikely benign
Select item 2279842	NM_170675.5(MEIS2):c.809C>T (p.Pro270Leu)	MEIS2 (P182L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2442198	NM_170675.5(MEIS2):c.777_781del (p.Ala260fs)	MEIS2 (A172fs +2 more)	Deletion (frameshift variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely pathogenic
Select item 1462785	NM_170675.5(MEIS2):c.780T>G (p.Ala260=)	MEIS2	Single nucleotide variant (synonymous variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely benign
Select item 1878876	NM_170675.5(MEIS2):c.772A>G (p.Ser258Gly)	MEIS2 (S170G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2291251	NM_170675.5(MEIS2):c.760G>T (p.Gly254Cys)	MEIS2 (G166C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1342441	NM_170675.5(MEIS2):c.755-11878A>G	MEIS2	Single nucleotide variant (intron variant)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GUncertain significance
Select item 1296892	NM_170675.5(MEIS2):c.755-20642A>G	MEIS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1684660	Single allele	LOC130056775, LOC130056776 +5 more	Deletion	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely pathogenic
Select item 2715939	NM_170675.5(MEIS2):c.754+7G>C	MEIS2	Single nucleotide variant (intron variant)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely benign
Select item 977210	NM_170675.5(MEIS2):c.754+2T>C	MEIS2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1343136	NM_170675.5(MEIS2):c.751C>T (p.Gln251Ter)	MEIS2 (Q163* +2 more)	Single nucleotide variant (nonsense +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GPathogenic
Select item 2287734	NM_170675.5(MEIS2):c.742A>G (p.Ser248Gly)	MEIS2 (S160G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1061333	NM_170675.5(MEIS2):c.733G>A (p.Gly245Arg)	MEIS2 (G157R +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GUncertain significance
Select item 532737	NM_170675.5(MEIS2):c.732C>T (p.Ser244=)	MEIS2	Single nucleotide variant (synonymous variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies +1 more	GBenign
Select item 2662224	NM_170675.5(MEIS2):c.716G>C (p.Gly239Ala)	MEIS2 (G151A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 870995	NM_170675.5(MEIS2):c.716del (p.Gly239fs)	MEIS2 (G239fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 733639	NM_170675.5(MEIS2):c.687A>C (p.Ser229=)	MEIS2	Single nucleotide variant (synonymous variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely benign
Select item 706870	NM_170675.5(MEIS2):c.657A>G (p.Arg219=)	MEIS2	Single nucleotide variant (synonymous variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely benign
Select item 1219300	NM_170675.5(MEIS2):c.655C>T (p.Arg219Ter)	MEIS2 (R131* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2315064	NM_170675.5(MEIS2):c.644CTT[2] (p.Ser217del)	MEIS2 (S204del +2 more)	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1527861	NM_170675.5(MEIS2):c.639+1G>A	MEIS2	Single nucleotide variant (splice donor variant)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GPathogenic
Select item 707649	NM_170675.5(MEIS2):c.630C>T (p.Leu210=)	MEIS2	Single nucleotide variant (synonymous variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GBenign
Select item 427215	NM_170675.5(MEIS2):c.611C>G (p.Ser204Ter)	MEIS2 (S204* +2 more)	Single nucleotide variant (nonsense +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GPathogenic
Select item 2433738	NM_170675.5(MEIS2):c.610T>G (p.Ser204Ala)	MEIS2 (S116A +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GUncertain significance
Select item 1503126	NM_170675.5(MEIS2):c.607C>A (p.Leu203Ile)	MEIS2 (L115I +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GUncertain significance
Select item 1122819	NM_170675.5(MEIS2):c.603A>G (p.Glu201=)	MEIS2	Single nucleotide variant (synonymous variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely benign
Select item 2689421	NM_170675.5(MEIS2):c.582C>A (p.Gly194=)	MEIS2	Single nucleotide variant (synonymous variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GUncertain significance
Select item 1164888	NM_170675.5(MEIS2):c.580G>A (p.Gly194Ser)	MEIS2 (G106S +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GBenign
Select item 1899358	NM_170675.5(MEIS2):c.579C>T (p.Asp193=)	MEIS2	Single nucleotide variant (synonymous variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely benign
Select item 567456	NM_170675.5(MEIS2):c.576_578inv (p.Arg192_Asp193delinsSerLeu)	MEIS2	Inversion (missense variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies +1 more	GUncertain significance
Select item 1722874	NM_170675.5(MEIS2):c.574A>G (p.Arg192Gly)	MEIS2 (R104G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 737199	NM_170675.5(MEIS2):c.561C>T (p.Leu187=)	MEIS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2664338	NM_170675.5(MEIS2):c.525del (p.Arg174_Tyr175insTer)	MEIS2	Deletion (nonsense +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely pathogenic
Select item 489082	NM_170675.5(MEIS2):c.520C>T (p.Arg174Ter)	MEIS2 (R161* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 532739	NM_170675.5(MEIS2):c.507T>C (p.Asp169=)	MEIS2	Single nucleotide variant (synonymous variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies +1 more	GBenign
Select item 1434891	NM_170675.5(MEIS2):c.505G>A (p.Asp169Asn)	MEIS2 (D156N +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GUncertain significance
Select item 793586	NM_170675.5(MEIS2):c.495C>T (p.His165=)	MEIS2	Single nucleotide variant (synonymous variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely benign
Select item 1080522	NM_170675.5(MEIS2):c.490-7G>A	MEIS2	Single nucleotide variant (intron variant)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely benign
Select item 2804613	NM_170675.5(MEIS2):c.490-16A>G	MEIS2	Single nucleotide variant (intron variant)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely benign
Select item 532738	NM_170675.5(MEIS2):c.471T>C (p.His157=)	MEIS2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign

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