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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP1B1
(E213K +1 more)
Single nucleotide variant
(missense variant)
Sensory neuropathy
+7 more
GUncertain significance
FOXP2
Indel
(missense variant +1 more)
Generalized hypotonia
+6 more
GUncertain significance
MED25
(Q593fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease type 2
+8 more
GUncertain significance
SLC12A1
(A752V)
Single nucleotide variant
(missense variant)
Bartter disease type 1
+9 more
GUncertain significance
COL6A3
(A2787T +2 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
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