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Links from MedGen

Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMIE
Deletion
(splice donor variant +1 more)
Autosomal recessive nonsyndromic hearing loss 6
GPathogenic
TMIE
(V49fs)
Deletion
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 6
GPathogenic
TMIE
(V50L)
Single nucleotide variant
(5 prime UTR variant +1 more)
TMIE-related condition
+2 more
GConflicting classifications of pathogenicity
TMIE
(P43fs)
Duplication
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 6
+1 more
GPathogenic/Likely pathogenic
TMIE
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 6
GUncertain significance
TMIE
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 6
GUncertain significance
TMIE
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 6
GUncertain significance
TMIE
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 6
GUncertain significance
TMIE
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TMIE
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 6
GUncertain significance
TMIE
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 6
GUncertain significance
TMIE
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 6
GUncertain significance
TMIE
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 6
GUncertain significance
TMIE
(A138V +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 6
GUncertain significance
TMIE
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TMIE
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 6
GUncertain significance
TMIE
(L22F)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 6
GUncertain significance
TMIE
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 6
GUncertain significance
TMIE
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 6
GUncertain significance
TMIE
(E31G)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 6
+1 more
GPathogenic/Likely pathogenic
TMIE
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 6
GBenign
TMIE
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 6
GUncertain significance
TMIE
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 6
GUncertain significance
TMIE
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 6
GUncertain significance
TMIE
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 6
GLikely benign
TMIE
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 6
GUncertain significance
TMIE
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 6
GUncertain significance
TMIE
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 6
GUncertain significance
TMIE
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 6
GUncertain significance
TMIE
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
TMIE
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 6
GUncertain significance
TMIE
Single nucleotide variant
(intron variant +1 more)
Autosomal recessive nonsyndromic hearing loss 6
+1 more
GBenign/Likely benign
TMIE
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 6
GUncertain significance
TMIE
(S69F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TMIE
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TMIE
(S64L +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TMIE
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 6
+2 more
GConflicting classifications of pathogenicity
TMIE
(K131del +1 more)
Microsatellite
(inframe_deletion)
not specified
+2 more
GBenign
TMIE
(D122E +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TMIE
(V12L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
TMIE
Single nucleotide variant
(5 prime UTR variant +1 more)
TMIE-related condition
+3 more
GConflicting classifications of pathogenicity
TMIE
(W57* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 6
GPathogenic
TMIE
Indel
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 6
GPathogenic
TMIE
(R92W +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 6
GConflicting classifications of pathogenicity
TMIE
(R84W +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely pathogenic
TMIE
(R81C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TMIE
(P41fs)
Deletion
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 6
GPathogenic
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