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Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLPI
Single nucleotide variant
(splice donor variant)
Otitis media, susceptibility to
GPathogenic
CDHR3
(A710S +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CDHR3
(Y641H +1 more)
Single nucleotide variant
(missense variant)
Susceptibility to nonsyndromic otitis media
GUncertain significance
CDHR3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
CDHR3
(L418F +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CDHR3
(P351fs +1 more)
Deletion
(frameshift variant)
Susceptibility to nonsyndromic otitis media
GUncertain significance
CDHR3
(P291S +1 more)
Single nucleotide variant
(missense variant)
Susceptibility to nonsyndromic otitis media
GUncertain significance
CDHR3
(P267L +1 more)
Single nucleotide variant
(missense variant)
Susceptibility to nonsyndromic otitis media
GUncertain significance
CDHR3
(V120M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPINK5
(M1022L +1 more)
Single nucleotide variant
(missense variant)
Susceptibility to nonsyndromic otitis media
GUncertain significance
SPINK5
(N831K)
Single nucleotide variant
(missense variant)
Susceptibility to nonsyndromic otitis media
GUncertain significance
SPINK5
Single nucleotide variant
(3 prime UTR variant)
Susceptibility to nonsyndromic otitis media
GUncertain significance
SPINK5
(L449I)
Single nucleotide variant
(missense variant)
Netherton syndrome
GUncertain significance
SPINK5
(E561G)
Single nucleotide variant
(missense variant)
Ichthyosis linearis circumflexa
+1 more
GUncertain significance
PLG
(A494V)
Single nucleotide variant
(missense variant)
not provided
GBenign
PLG
(I682N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PLG
(D472N)
Single nucleotide variant
(missense variant)
not provided
GBenign
PLG
(R261H)
Single nucleotide variant
(missense variant)
PLG-related disorder
+1 more
GConflicting classifications of pathogenicity
SPINK5
(G184D)
Single nucleotide variant
(missense variant)
Ichthyosis linearis circumflexa
GUncertain significance
A2ML1
(A1164V +1 more)
Single nucleotide variant
(missense variant)
Otitis media, susceptibility to
GUncertain significance
A2ML1
(A991P +1 more)
Single nucleotide variant
(missense variant)
Otitis media, susceptibility to
GUncertain significance
A2ML1
(D849Y +1 more)
Single nucleotide variant
(missense variant)
Otitis media, susceptibility to
GUncertain significance
A2ML1
(P743L +1 more)
Single nucleotide variant
(missense variant)
Otitis media, susceptibility to
GUncertain significance
A2ML1
(R730H +1 more)
Single nucleotide variant
(missense variant)
Otitis media, susceptibility to
+1 more
GUncertain significance
A2ML1
(Q561H +1 more)
Single nucleotide variant
(missense variant)
Otitis media, susceptibility to
GUncertain significance
A2ML1, A2ML1-AS1
(T55I)
Single nucleotide variant
(missense variant)
Otitis media, susceptibility to
+1 more
GUncertain significance
CHD7
(Q2438E)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MYH14
(E991K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(T255M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYO15A
(T88M)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 3
GLikely pathogenic
OTOA
Single nucleotide variant
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 22
GLikely pathogenic
A2ML1
(G777R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
A2ML1
(L671P +1 more)
Single nucleotide variant
(missense variant)
Otitis media, susceptibility to
GUncertain significance
A2ML1
(Q436H)
Single nucleotide variant
(missense variant)
Otitis media, susceptibility to
GUncertain significance
A2ML1
Single nucleotide variant
(intron variant)
Otitis media, susceptibility to
+1 more
GConflicting classifications of pathogenicity
A2ML1, A2ML1-AS1
(Q4*)
Single nucleotide variant
(nonsense)
Otitis media, susceptibility to
GLikely pathogenic
A2ML1
Single nucleotide variant
(splice donor variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SPINK5
(E748G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
A2ML1
(F733L +1 more)
Single nucleotide variant
(missense variant)
A2ML1-related disorder
+3 more
GConflicting classifications of pathogenicity
SPINK5
(R268C)
Single nucleotide variant
(missense variant)
Netherton syndrome
+3 more
GBenign/Likely benign
SPINK5
(R218*)
Single nucleotide variant
(nonsense)
Netherton syndrome
GPathogenic
A2ML1
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
EYA4
(R370H +4 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
GSDME
(D426del +1 more)
Microsatellite
(inframe_deletion)
GSDME-related disorder
+4 more
GConflicting classifications of pathogenicity
PLG
(K38E)
Single nucleotide variant
(missense variant)
Deep venous thrombosis
+2 more
GConflicting classifications of pathogenicity
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