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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBC1D7, TBC1D7-LOC100130357
(Y108fs +1 more)
Duplication
(frameshift variant +1 more)
Macrocephaly/megalencephaly syndrome, autosomal recessive
+1 more
GPathogenic
LOC126859592, TBC1D7
+1 more
Single nucleotide variant
(intron variant)
Macrocephaly/megalencephaly syndrome, autosomal recessive
+1 more
GBenign
TBC1D7-LOC100130357, TBC1D7
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TBC1D7, TBC1D7-LOC100130357
(A148V)
Single nucleotide variant
(missense variant +1 more)
Macrocephaly/megalencephaly syndrome, autosomal recessive
GUncertain significance
KMT2E
(Q1024*)
Single nucleotide variant
(nonsense)
See cases
GLikely pathogenic
TBC1D7, TBC1D7-LOC100130357
(R7fs)
Deletion
(frameshift variant +1 more)
Macrocephaly/megalencephaly syndrome, autosomal recessive
GPathogenic
TBC1D7-LOC100130357, LOC126859592
+1 more
(Y134fs +2 more)
Deletion
(frameshift variant)
Macrocephaly/megalencephaly syndrome, autosomal recessive
GPathogenic
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