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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC22
Single nucleotide variant
(intron variant)
Ritscher-Schinzel syndrome 2
+2 more
GBenign/Likely benign
CCDC22
(E239K)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
CCDC22
Single nucleotide variant
(no sequence alteration)
Ritscher-Schinzel syndrome 2
+1 more
GBenign
CCDC22
(R321Q)
Single nucleotide variant
(missense variant)
not specified
GConflicting classifications of pathogenicity
CCDC22
(R346H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CCDC22
(R384C)
Single nucleotide variant
(missense variant)
CCDC22-related condition
+2 more
GConflicting classifications of pathogenicity
CCDC22
(R388H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
CCDC22
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CCDC22
(A430T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
CCDC22
Single nucleotide variant
(intron variant)
Ritscher-Schinzel syndrome 2
+1 more
GBenign
CCDC22
(E592K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CCDC22
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
CCDC22
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
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