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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NHS
Single nucleotide variant
(intron variant)
Cataract 40
GUncertain significance
NHS
Single nucleotide variant
(splice acceptor variant +1 more)
Cataract 40
GPathogenic
NHS
(D182E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NHS
(Q212E +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
+2 more
GConflicting classifications of pathogenicity
NHS
(R59Q)
Indel
(missense variant)
Nance-Horan syndrome
+2 more
GUncertain significance
NHS
(T1574P +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NHS
(H1083Y +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
NHS
(A51V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
NHS
Duplication
(intron variant)
Nance-Horan syndrome
+3 more
GBenign/Likely benign
LOC101928389, NHS
Deletion
(intron variant)
Cataract 40
GPathogenic
NHS
Variation
Cataract 40
GPathogenic
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