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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DCHS1
(R2755H)
Single nucleotide variant
(missense variant)
DCHS1-related disorder
+2 more
GConflicting classifications of pathogenicity
DCHS1
(P2616A)
Single nucleotide variant
(missense variant)
DCHS1-related disorder
+1 more
GConflicting classifications of pathogenicity
DCHS1
(P1519S)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
DCHS1
(E1358K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DCHS1
(D570G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(R498Q)
Single nucleotide variant
(missense variant)
DCHS1-related disorder
+1 more
GConflicting classifications of pathogenicity
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