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Links from MedGen

Items: 82

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MEIS2
Single nucleotide variant
(synonymous variant +2 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GUncertain significance
MEIS2
(M290V +4 more)
Single nucleotide variant
(missense variant +2 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GUncertain significance
MEIS2
Single nucleotide variant
(intron variant)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely benign
MEIS2
(P214T +2 more)
Single nucleotide variant
(missense variant)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GUncertain significance
MEIS2
Single nucleotide variant
(synonymous variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely benign
MEIS2
Single nucleotide variant
(intron variant)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely benign
MEIS2
Single nucleotide variant
(synonymous variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GUncertain significance
MEIS2
Deletion
(nonsense +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely pathogenic
MEIS2
Single nucleotide variant
(splice acceptor variant)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GUncertain significance
MEIS2
(H28fs +1 more)
Indel
(frameshift variant +2 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GPathogenic
MEIS2
(A172fs +2 more)
Deletion
(frameshift variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely pathogenic
MEIS2
(S116A +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GUncertain significance
MEIS2
(G294S +4 more)
Single nucleotide variant
(missense variant +2 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GUncertain significance
MEIS2
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely benign
MEIS2
Single nucleotide variant
(intron variant)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely benign
MEIS2
Single nucleotide variant
(intron variant)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely benign
MEIS2
(M295V +4 more)
Single nucleotide variant
(missense variant +2 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GBenign
MEIS2
Microsatellite
(intron variant)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GBenign
MEIS2
Single nucleotide variant
(synonymous variant +2 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely benign
MEIS2
Single nucleotide variant
(5 prime UTR variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely benign
MEIS2
(A68S +1 more)
Single nucleotide variant
(missense variant +2 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GBenign
MEIS2
Single nucleotide variant
(synonymous variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely benign
MEIS2
(S291fs +4 more)
Deletion
(frameshift variant +2 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GUncertain significance
MEIS2
(D277fs +4 more)
Deletion
(frameshift variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GUncertain significance
MEIS2
(N241S +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely pathogenic
MEIS2
(R245S +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely pathogenic
MEIS2
(Y215N +2 more)
Single nucleotide variant
(missense variant)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely pathogenic
MEIS2
(N237D +2 more)
Single nucleotide variant
(missense variant)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely pathogenic
MEIS2
(A66G +1 more)
Single nucleotide variant
(missense variant +2 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GUncertain significance
MEIS2
(L32V +1 more)
Single nucleotide variant
(missense variant +2 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GUncertain significance
MEIS2
(E218K +2 more)
Single nucleotide variant
(missense variant)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
+1 more
GLikely pathogenic
MEIS2
(H213Q +2 more)
Single nucleotide variant
(missense variant)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GUncertain significance
LOC130056775, LOC130056776
+5 more
Deletion
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely pathogenic
MEIS2
(S254* +2 more)
Single nucleotide variant
(nonsense +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely pathogenic
MEIS2
Single nucleotide variant
(intron variant)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely benign
MEIS2
Single nucleotide variant
(intron variant)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely benign
MEIS2
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GLikely benign
MEIS2
Single nucleotide variant
(5 prime UTR variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GBenign
MEIS2
Single nucleotide variant
(synonymous variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely benign
MEIS2
Single nucleotide variant
(splice donor variant)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GPathogenic
MEIS2
(L115I +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GUncertain significance
MEIS2
Single nucleotide variant
(synonymous variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely benign
MEIS2
(D156N +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GUncertain significance
MEIS2
(R331Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GUncertain significance
MEIS2
(D6A)
Single nucleotide variant
(missense variant +2 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GUncertain significance
MEIS2
(Q163* +2 more)
Single nucleotide variant
(nonsense +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GPathogenic
MEIS2
Single nucleotide variant
(intron variant)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GUncertain significance
MEIS2
(V235G +2 more)
Single nucleotide variant
(missense variant)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely pathogenic
MEIS2
(L335fs +1 more)
Deletion
(frameshift variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GUncertain significance
MEIS2
Single nucleotide variant
(splice donor variant)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GPathogenic
MEIS2
(R243K +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GPathogenic
MEIS2
Single nucleotide variant
(synonymous variant +2 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GBenign
MEIS2
(G106S +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GBenign
MEIS2
Single nucleotide variant
(synonymous variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely benign
MEIS2
Single nucleotide variant
(intron variant)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely benign
MEIS2
(G157R +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GUncertain significance
MEIS2
(A280P +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely pathogenic
MEIS2
(P56Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GUncertain significance
MEIS2
Single nucleotide variant
(intron variant)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GUncertain significance
MEIS2
(Q234E +2 more)
Single nucleotide variant
(missense variant)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely pathogenic
MEIS2
(M282L +4 more)
Single nucleotide variant
(missense variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GUncertain significance
MEIS2
(I20V +1 more)
Single nucleotide variant
(missense variant +2 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GUncertain significance
MEIS2
(L224fs +2 more)
Deletion
(frameshift variant)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
MEIS2
Single nucleotide variant
(synonymous variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely benign
MEIS2
Single nucleotide variant
(synonymous variant +2 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely benign
MEIS2
Single nucleotide variant
(synonymous variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely benign
MEIS2
Single nucleotide variant
(synonymous variant +2 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely benign
MEIS2
Single nucleotide variant
(synonymous variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GBenign
MEIS2
Single nucleotide variant
(synonymous variant)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely benign
MEIS2
Single nucleotide variant
(synonymous variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely benign
MEIS2
Single nucleotide variant
(synonymous variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely benign
MEIS2
(T35A +1 more)
Single nucleotide variant
(missense variant +2 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GUncertain significance
MEIS2
Inversion
(missense variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
+1 more
GUncertain significance
MEIS2
(R276fs +2 more)
Duplication
(frameshift variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GPathogenic
MEIS2
Single nucleotide variant
(synonymous variant +2 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GLikely benign
MEIS2
Single nucleotide variant
(synonymous variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GBenign
MEIS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
MEIS2
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GBenign
MEIS2
(S204* +2 more)
Single nucleotide variant
(nonsense +1 more)
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GPathogenic
MEIS2
Duplication
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
GPathogenic
MEIS2
(P289L +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
MEIS2
(R320del +2 more)
Microsatellite
(inframe_deletion +1 more)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
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