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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WFS1
(Q667*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+20 more
GPathogenic/Likely pathogenic
KIF1A
(H917Y +7 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+22 more
GUncertain significance
CHN1
(A223T +3 more)
Single nucleotide variant
(missense variant +1 more)
See cases
+19 more
GLikely pathogenic
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