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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAB3GAP1
Single nucleotide variant
(intron variant)
Cryptorchidism
+17 more
GPathogenic
CHD8
(R299C +1 more)
Single nucleotide variant
(missense variant)
Fatigable weakness
+5 more
GConflicting classifications of pathogenicity
MYH10
(R1502P +3 more)
Single nucleotide variant
(missense variant)
Wide nose
+6 more
GPathogenic
ARFGEF1, CSPP1
(E1094G +7 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 21
+7 more
GConflicting classifications of pathogenicity
AHI1
(V767L)
Single nucleotide variant
(missense variant)
Global developmental delay
+7 more
GConflicting classifications of pathogenicity
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