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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMMECR1L, BIN1
+254 more
Copy number loss
See cases
GPathogenic
ACMSD, AMER3
+391 more
Copy number loss
See cases
GPathogenic
C1QL2, C2orf76
+92 more
Copy number loss
See cases
GPathogenic
CFAP221
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFAP221
(V280I)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CFAP221
Duplication
(intron variant)
CFAP221-related disorder
GLikely benign
CFAP221
(R433C)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CFAP221
(R516Q)
Single nucleotide variant
(missense variant +1 more)
CFAP221-related disorder
GLikely benign
CFAP221
(S742C)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CFAP221
(L768fs)
Deletion
(frameshift variant +1 more)
Primary ciliary dyskinesia
GLikely pathogenic
CFAP221
Single nucleotide variant
(splice donor variant)
Primary ciliary dyskinesia
GLikely pathogenic
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