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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDH23, PSAP
Single nucleotide variant
(synonymous variant)
CDH23-related condition
+8 more
GConflicting classifications of pathogenicity
CDH23, PSAP
(D3253A +4 more)
Single nucleotide variant
(missense variant)
Atypical Gaucher Disease
+7 more
GBenign/Likely benign
CDH23, PSAP
Single nucleotide variant
(synonymous variant)
Nonsyndromic Hearing Loss, Recessive
+9 more
GBenign/Likely benign
CDH23, PSAP
Single nucleotide variant
(synonymous variant)
CDH23-related condition
+8 more
GConflicting classifications of pathogenicity
CDH23, PSAP
Single nucleotide variant
(synonymous variant)
CDH23-related condition
+11 more
GConflicting classifications of pathogenicity
CDH23, PSAP
Single nucleotide variant
(intron variant)
not specified
+9 more
GBenign/Likely benign
PSAP
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign
PSAP
(T217I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
PSAP
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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