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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCN7
(R767W +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
CLCN7
(V418M +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
CLCN7
(R262W +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CLCN7
(G215R +1 more)
Single nucleotide variant
(missense variant)
CLCN7-related condition
+2 more
GPathogenic
CLCN7
(Y99C +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
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