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Links from MedGen

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM33, ADISSP
+731 more
Copy number gain
Renal agenesis
GPathogenic
BICC1
Single nucleotide variant
(splice donor variant)
Renal agenesis
GLikely pathogenic
FRAS1
(Q2583*)
Single nucleotide variant
(nonsense)
Renal agenesis
GPathogenic
FRAS1
(Y392*)
Single nucleotide variant
(nonsense)
Renal agenesis
GPathogenic
FRAS1
(Y293*)
Single nucleotide variant
(nonsense)
Renal agenesis
GPathogenic
GREB1L
(R1057P)
Single nucleotide variant
(missense variant)
Renal agenesis
+1 more
GUncertain significance
GREB1L, LOC101927521
Single nucleotide variant
(intron variant)
Renal agenesis
+1 more
GUncertain significance
GREB1L
(L814P)
Single nucleotide variant
(missense variant)
Renal agenesis
+1 more
GUncertain significance
IFT25
(L19fs +1 more)
Duplication
(frameshift variant +2 more)
Renal agenesis
GUncertain significance
BLTP1
Single nucleotide variant
(intron variant)
Right aortic arch
+2 more
GUncertain significance
BLTP1
(V3052fs)
Deletion
(frameshift variant)
Right aortic arch
+2 more
GPathogenic
TBX18
Copy number gain
Renal agenesis
+1 more
GUncertain significance
TMCO1
(R206* +2 more)
Single nucleotide variant
(nonsense +1 more)
Cryptorchidism
+20 more
GPathogenic
SOX3
Duplication
(inframe_insertion)
Intellectual disability, X-linked, with panhypopituitarism
+28 more
GConflicting classifications of pathogenicity
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