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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPINK5
(G184D)
Single nucleotide variant
(missense variant)
Ichthyosis linearis circumflexa
GUncertain significance
SPINK5
(R218*)
Single nucleotide variant
(nonsense)
Netherton syndrome
GPathogenic
SPINK5
(R268C)
Single nucleotide variant
(missense variant)
Netherton syndrome
+3 more
GBenign/Likely benign
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
SPINK5
(E748G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SPINK5
(N831K)
Single nucleotide variant
(missense variant)
Susceptibility to nonsyndromic otitis media
GUncertain significance
SPINK5
(M1022L +1 more)
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
CDHR3
(V120M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDHR3
(P267L +1 more)
Single nucleotide variant
(missense 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
(P351fs +1 more)
Deletion
(frameshift variant)
Susceptibility to nonsyndromic otitis media
GUncertain significance
CDHR3
(L418F +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CDHR3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
CDHR3
(Y641H +1 more)
Single nucleotide variant
(missense variant)
Susceptibility to nonsyndromic otitis media
GUncertain significance
CDHR3
(A710S +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
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