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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RNF213
(N38K)
Single nucleotide variant
(missense variant)
Seizure
+4 more
GLikely pathogenic
NOTCH1
(G1892R)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+3 more
GUncertain significance
ARG2, RDH11
+3 more
Copy number gain
Hemangioma
+3 more
GUncertain significance
SRD5A3, SRD5A3-AS1
(F318fs)
Deletion
(frameshift variant)
Inborn genetic diseases
+6 more
GUncertain significance
PKD1
(I120T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
DIPK1A, RPL5
Single nucleotide variant
(splice acceptor variant +1 more)
Aplasia of the ovary
+16 more
GPathogenic
CSMD3
Copy number loss
Hemangioma
+2 more
GBenign
PTEN
(Y225* +2 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
Translocation
Narrow nasal base
+9 more
GUncertain significance
Translocation
Clinodactyly of the 5th finger
+14 more
GLikely pathogenic
Translocation
Synophrys
+11 more
GPathogenic
Translocation
Hemangioma
+6 more
GLikely pathogenic
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