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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDZD7
(Y500* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hearing loss, autosomal recessive 57
GLikely pathogenic
PDZD7
(M285R)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal recessive 57
GLikely pathogenic
PDZD7
(G228R)
Single nucleotide variant
(missense variant)
PDZD7-related condition
+2 more
GConflicting classifications of pathogenicity
PDZD7
(G103R)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal recessive 57
+2 more
GPathogenic/Likely pathogenic
PDZD7
(R66L)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal recessive 57
GUncertain significance
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