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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IFIH1
(R820H)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+3 more
GConflicting classifications of pathogenicity
IFIH1
(R728*)
Single nucleotide variant
(nonsense)
Singleton-Merten syndrome 1
+3 more
GConflicting classifications of pathogenicity
IFIH1
(H625N)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+3 more
GUncertain significance
IFIH1
(N176S)
Single nucleotide variant
(missense variant)
Singleton-Merten syndrome 1
+2 more
GConflicting classifications of pathogenicity
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