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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP2B1
(V793L +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental delay
+4 more
GLikely pathogenic
ATP2B1
Single nucleotide variant
(splice donor variant)
Neurodevelopmental delay
+4 more
GLikely pathogenic
CASR
(W530*)
Single nucleotide variant
(nonsense)
Hypocalcemia
+1 more
GPathogenic
GNAS
(Q29*)
Single nucleotide variant
(intron variant +1 more)
Cushing syndrome
+16 more
GPathogenic
CASR
Deletion
(5 prime UTR variant)
Hypocalcemia
+3 more
GLikely benign
CASR
Duplication
(3 prime UTR variant)
Familial hypocalciuric hypercalcemia
+3 more
GBenign
CASR
Single nucleotide variant
(synonymous variant)
Autosomal dominant hypocalcemia 1
+5 more
GLikely benign
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