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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRHR2
(V397M +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CRHR2, LOC126859981
(K293R +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CRHR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CRHR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
AQP1, CRHR2
+9 more
Deletion
Charcot-Marie-Tooth disease type 2
GUncertain significance
AQP1, CRHR2
+4 more
Duplication
Charcot-Marie-Tooth disease type 2
GUncertain significance
AQP1, CRHR2
+10 more
Duplication
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GUncertain significance
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