U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STRC
Indel
not provided
+3 more
GConflicting classifications of pathogenicity
STRC
(E1613*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
STRC
(W1475C)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+2 more
GPathogenic/Likely pathogenic
CATSPER2, CKMT1A
+4 more
Deletion
Autosomal recessive nonsyndromic hearing loss 16
GPathogenic
CATSPER2, CKMT1B
+2 more
Deletion
Autosomal recessive nonsyndromic hearing loss 16
GPathogenic
CKMT1A, CKMT1B
+4 more
Deletion
Deafness-infertility syndrome
+1 more
GPathogenic/Likely pathogenic
Format
Items per page
Sort by
Choose Destination