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Links from MedGen

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LEF1
(Q114fs +1 more)
Deletion
(frameshift variant)
Ectrodactyly
GPathogenic
LEF1
(Y253del +2 more)
Microsatellite
(inframe_deletion)
Ectrodactyly
GPathogenic
UBA2
(R122G)
Single nucleotide variant
(missense variant)
Ectrodactyly
GUncertain significance
FGFR2
(R140Q +3 more)
Single nucleotide variant
(missense variant +2 more)
Ectrodactyly
GLikely pathogenic
PLAA
Single nucleotide variant
(splice acceptor variant)
Inborn genetic diseases
+10 more
GConflicting classifications of pathogenicity
Duplication
Ectrodactyly
GPathogenic
DPCD, BTRC
+5 more
Duplication
Ectrodactyly
GPathogenic
TP63
Single nucleotide variant
Cleft Lip +/- Cleft Palate, Autosomal Dominant
+2 more
GBenign
TP63
Deletion
(3 prime UTR variant)
Cleft Lip +/- Cleft Palate, Autosomal Dominant
+2 more
GLikely benign
TP63
Deletion
(3 prime UTR variant)
Cleft Lip +/- Cleft Palate, Autosomal Dominant
+3 more
GBenign/Likely benign
TP63
Duplication
(3 prime UTR variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TP63
Deletion
(3 prime UTR variant)
Cleft Lip +/- Cleft Palate, Autosomal Dominant
+3 more
GBenign
TP63
Duplication
(3 prime UTR variant)
Cleft Lip +/- Cleft Palate, Autosomal Dominant
+2 more
GUncertain significance
TP63
Duplication
(3 prime UTR variant)
Cleft Lip +/- Cleft Palate, Autosomal Dominant
+2 more
GBenign
TP63
Deletion
(3 prime UTR variant)
Cleft Lip +/- Cleft Palate, Autosomal Dominant
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
Cleft Lip +/- Cleft Palate, Autosomal Dominant
+2 more
GUncertain significance
TP63
Deletion
(3 prime UTR variant)
Cleft Lip +/- Cleft Palate, Autosomal Dominant
+2 more
GUncertain significance
FBXW4
(V125A)
Single nucleotide variant
(missense variant +2 more)
Ectrodactyly
GUncertain significance
FBXW4, LOC130004563
(E168del)
Microsatellite
(inframe_deletion +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
FBXW4, LOC130004563
Microsatellite
(inframe_insertion +2 more)
Ectrodactyly
+1 more
GUncertain significance
FBXW4
Duplication
(3 prime UTR variant +1 more)
Ectrodactyly
GUncertain significance
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