Related gene-specific medical variations for Gene (Select 4212) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2575990	NM_170675.5(MEIS2):c.977+1G>A	MEIS2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
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 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 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 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 870995	NM_170675.5(MEIS2):c.716del (p.Gly239fs)	MEIS2 (G239fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 686274	GRCh37/hg19 15q14(chr15:37328530-37383148)x1	MEIS2	Copy number loss	not provided	GPathogenic
Select item 685290	GRCh37/hg19 15q14(chr15:37299667-37409497)x1	MEIS2	Copy number loss	not provided	GPathogenic
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 441671	GRCh37/hg19 15q14(chr15:37279667-37338453)x1	MEIS2	Copy number loss	See cases	GLikely pathogenic
Select item 427214	NG_029108.1:g.120078_181902dup	MEIS2	Duplication	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	GPathogenic