ClinVar for MedGen (Select 318752) - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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
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 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 1033182	NM_170675.5(MEIS2):c.167C>A (p.Pro56Gln)	MEIS2 (P56Q +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GUncertain significance
Select item 1005146	NM_170675.5(MEIS2):c.387+6G>C	MEIS2	Single nucleotide variant (intron variant)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GUncertain significance
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 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 851497	NM_170675.5(MEIS2):c.97A>G (p.Ile33Val)	MEIS2 (I20V +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GUncertain significance
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 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 748484	NM_170675.5(MEIS2):c.150C>T (p.His50=)	MEIS2	Single nucleotide variant (synonymous variant +2 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely benign
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 712073	NM_170675.5(MEIS2):c.237G>T (p.Ala79=)	MEIS2	Single nucleotide variant (synonymous variant +2 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely benign
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 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 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 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 657998	NM_170675.5(MEIS2):c.142A>G (p.Thr48Ala)	MEIS2 (T35A +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GUncertain significance
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 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 532740	NM_170675.5(MEIS2):c.96G>T (p.Pro32=)	MEIS2	Single nucleotide variant (synonymous variant +2 more)	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GLikely benign
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 532738	NM_170675.5(MEIS2):c.471T>C (p.His157=)	MEIS2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
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 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 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 427214	NG_029108.1:g.120078_181902dup	MEIS2	Duplication	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GPathogenic
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 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

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Items: 85