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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COQ8A
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
CPLANE1
(R2904* +1 more)
Single nucleotide variant
(nonsense)
Joubert syndrome 17
+2 more
GPathogenic
CPLANE1
(A2684T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CPLANE1
(R2493*)
Single nucleotide variant
(nonsense)
Orofaciodigital syndrome type 6
+2 more
GPathogenic
CPLANE1
Single nucleotide variant
(splice donor variant)
Orofaciodigital syndrome type 6
+1 more
GPathogenic
CPLANE1
(P2136fs)
Deletion
(frameshift variant)
Joubert syndrome 17
GPathogenic
CPLANE1
(I2119fs)
Duplication
(frameshift variant)
not provided
GPathogenic
CPLANE1
(R1602*)
Single nucleotide variant
(nonsense)
Orofaciodigital syndrome type 6
+2 more
GPathogenic
CPLANE1
(R1336W)
Single nucleotide variant
(missense variant)
Joubert syndrome and related disorders
+3 more
GPathogenic/Likely pathogenic
GH-LCR, SCN4A
(V781I)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+8 more
GBenign/Likely benign
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