ClinVar for Gene (Select 4212) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063372	GRCh37/hg19 15q14(chr15:34990168-39236311)x1	ACTC1, AQR +10 more	Copy number loss	not specified	GPathogenic
Select item 3058104	NM_170675.5(MEIS2):c.223C>A (p.Arg75=)	MEIS2	Single nucleotide variant (synonymous variant +2 more)	MEIS2-related condition	GLikely benign
Select item 3049240	NM_170675.5(MEIS2):c.153C>T (p.Tyr51=)	MEIS2	Single nucleotide variant (synonymous variant +2 more)	MEIS2-related condition	GLikely benign
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 3032205	NM_170675.5(MEIS2):c.388-1G>A	MEIS2	Single nucleotide variant (splice acceptor variant)	MEIS2-related condition	GLikely pathogenic
Select item 3029404	NM_170675.5(MEIS2):c.412T>C (p.Ser138Pro)	MEIS2 (S125P +2 more)	Single nucleotide variant (missense variant +1 more)	MEIS2-related condition	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 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 2866794	NM_170675.5(MEIS2):c.132G>T (p.Pro44=)	MEIS2	Single nucleotide variant (synonymous 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 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 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 2731311	NM_170675.5(MEIS2):c.330C>T (p.Gly110=)	MEIS2	Single nucleotide variant (synonymous variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely benign
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 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 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 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 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 2645155	NM_170675.5(MEIS2):c.103C>T (p.Pro35Ser)	MEIS2 (P22S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 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 2632334	NM_170675.5(MEIS2):c.15C>G (p.Tyr5Ter)	MEIS2 (Y5*)	Single nucleotide variant (nonsense +2 more)	MEIS2-related condition	GUncertain significance
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 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 2575990	NM_170675.5(MEIS2):c.977+1G>A	MEIS2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
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 2572912	NM_170675.5(MEIS2):c.242A>T (p.Tyr81Phe)	MEIS2 (M1L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2541211	NM_170675.5(MEIS2):c.307C>A (p.Pro103Thr)	MEIS2 (P15T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2505586	NM_170675.5(MEIS2):c.187G>A (p.Ala63Thr)	MEIS2 (A50T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2502862	NM_170675.5(MEIS2):c.122_126delinsTGA (p.His41fs)	MEIS2 (H28fs +1 more)	Indel (frameshift variant +2 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GPathogenic
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 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 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 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 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 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 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 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 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 2297937	NM_170675.5(MEIS2):c.460C>A (p.Leu154Ile)	MEIS2 (L154I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 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 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 2287670	NM_170675.5(MEIS2):c.52G>C (p.Gly18Arg)	MEIS2 (G5R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 2250818	NM_170675.5(MEIS2):c.220A>C (p.Lys74Gln)	MEIS2 (K74Q +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 2165586	NM_170675.5(MEIS2):c.327T>C (p.Ala109=)	MEIS2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely benign
Select item 2087620	NM_170675.5(MEIS2):c.438+16C>T	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 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 1983071	NM_170675.5(MEIS2):c.388-17CT[2]	MEIS2	Microsatellite (intron variant)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GBenign
Select item 1933828	NM_170675.5(MEIS2):c.6G>A (p.Ala2=)	MEIS2	Single nucleotide variant (synonymous variant +2 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely benign
Select item 1929223	NM_170675.5(MEIS2):c.13-19C>G	MEIS2	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely benign
Select item 1927813	NM_170675.5(MEIS2):c.202G>T (p.Ala68Ser)	MEIS2 (A68S +1 more)	Single nucleotide variant (missense variant +2 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 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 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 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 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 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 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 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 1708881	NM_170675.5(MEIS2):c.104dup (p.Val36fs)	MEIS2 (V23fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
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 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 1699300	NM_170675.5(MEIS2):c.236C>G (p.Ala79Gly)	MEIS2 (A66G +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GUncertain significance
Select item 1696454	NM_170675.5(MEIS2):c.133C>G (p.Leu45Val)	MEIS2 (L32V +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GUncertain significance
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 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 1684660	Single allele	LOC130056775, LOC130056776 +5 more	Deletion	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely pathogenic
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 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 1632516	NM_170675.5(MEIS2):c.246-17G>C	MEIS2	Single nucleotide variant (intron variant)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely benign
Select item 1626316	NM_170675.5(MEIS2):c.120C>T (p.Asn40=)	MEIS2	Single nucleotide variant (synonymous variant +2 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies +1 more	GLikely benign
Select item 1625246	NM_170675.5(MEIS2):c.13-19C>A	MEIS2	Single nucleotide variant (intron variant +1 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GBenign
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 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 1526442	GRCh37/hg19 15q14(chr15:36852134-37429248)	CDIN1, MEIS2	Copy number gain	not specified	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 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 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 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 1404453	NM_170675.5(MEIS2):c.17A>C (p.Asp6Ala)	MEIS2 (D6A)	Single nucleotide variant (missense variant +2 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GUncertain significance
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 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 1341971	GRCh37/hg19 15q14(chr15:33809650-40027263)x1	ACTC1, AQR +26 more	Copy number loss	15q14 microdeletion syndrome	GPathogenic
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 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 1328566	NM_170675.5(MEIS2):c.438+5G>T	MEIS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1296892	NM_170675.5(MEIS2):c.755-20642A>G	MEIS2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 1166144	NM_170675.5(MEIS2):c.24G>T (p.Leu8=)	MEIS2	Single nucleotide variant (synonymous variant +2 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GBenign
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 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 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

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