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Links from MedGen

Items: 90

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LRTOMT, TOMT
(L27P +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
TOMT, LRTOMT
(R34* +1 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GPathogenic
ANAPC15, LRTOMT
+1 more
(I149fs +2 more)
Deletion
(frameshift variant +3 more)
Autosomal recessive nonsyndromic hearing loss 63
GLikely pathogenic
LRRC51, LRTOMT
(H110fs +1 more)
Deletion
(frameshift variant +2 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
LRRC51, LRTOMT
(I114fs +1 more)
Deletion
(frameshift variant +2 more)
Autosomal recessive nonsyndromic hearing loss 63
GPathogenic
LRTOMT, TOMT
(R21Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
LRTOMT, TOMT
(R19W +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
ANAPC15, LRTOMT
+1 more
(R127C +2 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive nonsyndromic hearing loss 63
+1 more
GUncertain significance
ANAPC15, LRTOMT
(M86L +2 more)
Single nucleotide variant
(3 prime UTR variant +3 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
ANAPC15, LRTOMT
+1 more
(R212C +2 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
ANAPC15, LRTOMT
+1 more
(R217Q +2 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive nonsyndromic hearing loss 63
+2 more
GUncertain significance
LRTOMT
Single nucleotide variant
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
LRTOMT
Single nucleotide variant
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
ANAPC15, LRTOMT
Single nucleotide variant
(3 prime UTR variant +2 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
ANAPC15, LRTOMT
Single nucleotide variant
(3 prime UTR variant +2 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
TOMT, ANAPC15
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
ANAPC15, LRTOMT
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
TOMT, ANAPC15
+1 more
(P114A +2 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
ANAPC15, LRTOMT
+1 more
(R125W +2 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive nonsyndromic hearing loss 63
+1 more
GUncertain significance
LRTOMT, NUMA1
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
ANAPC15, LRTOMT
+1 more
Single nucleotide variant
(3 prime UTR variant +2 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
LRTOMT, TOMT
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 63
GConflicting classifications of pathogenicity
LRTOMT, NUMA1
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
LRTOMT, NUMA1
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
LRTOMT, NUMA1
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
LRTOMT, ANAPC15
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
ANAPC15, LRTOMT
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
ANAPC15, LRTOMT
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
LRTOMT, ANAPC15
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
TOMT, ANAPC15
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
LRRC51, LRTOMT
(H77R +1 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
LRTOMT, TOMT
(R58* +1 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GConflicting classifications of pathogenicity
LRTOMT, LRRC51
Single nucleotide variant
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
ANAPC15, LRTOMT
+1 more
(E129fs +2 more)
Insertion
(frameshift variant +3 more)
Autosomal recessive nonsyndromic hearing loss 63
GLikely pathogenic
ANAPC15, LRTOMT
+1 more
(G180S +2 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
Autosomal recessive nonsyndromic hearing loss 63
GLikely pathogenic
ANAPC15, LRTOMT
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
ANAPC15, LRTOMT
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
ANAPC15, LRTOMT
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
ANAPC15, LRTOMT
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
ANAPC15, LRTOMT
(P99L +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
ANAPC15, LRTOMT
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
ANAPC15, LRTOMT
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
ANAPC15, LRTOMT
Single nucleotide variant
(3 prime UTR variant +2 more)
Autosomal recessive nonsyndromic hearing loss 63
GLikely benign
ANAPC15, LRTOMT
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
ANAPC15, LRTOMT
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
ANAPC15, LRTOMT
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
ANAPC15, LRTOMT
+1 more
Single nucleotide variant
(3 prime UTR variant +2 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
ANAPC15, LRTOMT
+1 more
(G291D +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
ANAPC15, LRTOMT
+1 more
(Y287C +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
ANAPC15, LRTOMT
+1 more
(R266H +2 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
ANAPC15, LRTOMT
+1 more
(R262C +3 more)
Single nucleotide variant
(intron variant +2 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
ANAPC15, LRTOMT
+1 more
(C260W +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+3 more
GUncertain significance
ANAPC15, LRTOMT
+1 more
(R217W +2 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive nonsyndromic hearing loss 63
+2 more
GUncertain significance
ANAPC15, LRTOMT
+1 more
(P198S +2 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
ANAPC15, LRTOMT
+1 more
Single nucleotide variant
(synonymous variant +3 more)
LRTOMT-related condition
+2 more
GConflicting classifications of pathogenicity
ANAPC15, LRTOMT
+1 more
(V190M +2 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
ANAPC15, LRTOMT
+1 more
(T168M +2 more)
Single nucleotide variant
(missense variant +3 more)
LRTOMT-related condition
+2 more
GConflicting classifications of pathogenicity
ANAPC15, LRTOMT
+1 more
Single nucleotide variant
(synonymous variant +3 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
LRTOMT, TOMT
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
LRTOMT, TOMT
(R70Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LRTOMT, TOMT
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
LRRC51, LRTOMT
(R116H +1 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
LRRC51, LRTOMT
(I94T +1 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
LRRC51, LRTOMT
Single nucleotide variant
(synonymous variant +2 more)
LRTOMT-related condition
+3 more
GConflicting classifications of pathogenicity
LRRC51, LRTOMT
Single nucleotide variant
(synonymous variant +2 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
LRTOMT, LRRC51
Single nucleotide variant
(synonymous variant +2 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
LRTOMT, LRRC51
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
LRRC51, LRTOMT
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
LRTOMT
Single nucleotide variant
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
LRTOMT
Single nucleotide variant
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
LRTOMT
Single nucleotide variant
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
LRTOMT
Single nucleotide variant
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
LRTOMT, NUMA1
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
LRTOMT, NUMA1
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GLikely benign
LRTOMT, NUMA1
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
LRTOMT, NUMA1
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
LRTOMT, TOMT
+1 more
(H268Y +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
LRTOMT, TOMT
(L66V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
TOMT, ANAPC15
+1 more
(A133P +2 more)
Single nucleotide variant
(missense variant +3 more)
not specified
+3 more
GConflicting classifications of pathogenicity
LRRC51, LRTOMT
(G118R +1 more)
Single nucleotide variant
(missense variant +2 more)
LRTOMT-related condition
+3 more
GConflicting classifications of pathogenicity
TOMT, ANAPC15
+1 more
(S167fs +2 more)
Duplication
(frameshift variant +3 more)
Inborn genetic diseases
+1 more
GPathogenic
LRTOMT, TOMT
Single nucleotide variant
(intron variant)
Rare genetic deafness
+1 more
GPathogenic/Likely pathogenic
TOMT, ANAPC15
+1 more
(R208Q +2 more)
Single nucleotide variant
(missense variant +3 more)
not specified
+2 more
GBenign
LRTOMT, TOMT
(V118I +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TOMT, LRTOMT
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
LRTOMT, TOMT
(Y71* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 63
GPathogenic
LRTOMT, TOMT
(E110K +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 63
GPathogenic
LRTOMT, TOMT
(W105R +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 63
GPathogenic
LRTOMT, TOMT
(R81Q +2 more)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+1 more
GPathogenic
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