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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC50
(S206F)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
CCDC50
(D253E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
CCDC50
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CCDC50
Single nucleotide variant
(synonymous variant)
CCDC50-related condition
+2 more
GBenign/Likely benign
CCDC50
Single nucleotide variant
(intron variant)
CCDC50-related condition
+1 more
GConflicting classifications of pathogenicity
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