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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LRTOMT, TOMT
(R19W +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
LRTOMT, TOMT
(R21Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
LRTOMT, TOMT
(R81Q +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 63
+1 more
GPathogenic
ANAPC15, LRTOMT
+1 more
(I149fs +2 more)
Deletion
(frameshift variant +3 more)
Autosomal recessive nonsyndromic hearing loss 63
GLikely pathogenic
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