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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCN6
(Y531C +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities
+12 more
GConflicting classifications of pathogenicity
AP3B2, CPEB1-AS1
(K262T +1 more)
Single nucleotide variant
(missense variant)
not provided
+12 more
GUncertain significance
SCAPER
Deletion
(nonsense +1 more)
Pigmentary retinopathy
+5 more
GPathogenic
ARID1B
(L439fs +3 more)
Deletion
(frameshift variant)
Global developmental delay
+5 more
GLikely pathogenic
Translocation
Obsessive-compulsive trait
+2 more
GPathogenic
TTN-AS1, TTN
(E31842Q +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+15 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(W31837G +5 more)
Single nucleotide variant
(missense variant)
not provided
+15 more
GConflicting classifications of pathogenicity
TTN
(R10130H +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+14 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(E365K +2 more)
Single nucleotide variant
(missense variant)
Gaucher disease perinatal lethal
+13 more
GBenign/Likely benign; risk factor
TTN, TTN-AS1
(V27228M +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+18 more
GConflicting classifications of pathogenicity
GBA1, LOC106627981
(E365K +5 more)
Single nucleotide variant
(missense variant)
Gaucher disease type I
GPathogenic
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