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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSPEAR
(D639N +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 98
+4 more
GConflicting classifications of pathogenicity
TSPEAR
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 98
+1 more
GConflicting classifications of pathogenicity
LOC126653398, TSPEAR
+1 more
(V508fs +1 more)
Indel
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
TSPEAR
(Y263* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
KRTAP10-1, TSPEAR
(A260S)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 98
GUncertain significance
ABCG1, ADARB1
+70 more
Copy number loss
not provided
GPathogenic
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