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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126653398, TSPEAR
+1 more
(Y566C +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
+4 more
GConflicting classifications of pathogenicity
TSPEAR
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
+3 more
GLikely benign
TSPEAR
(L490Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TSPEAR
(G120S +1 more)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
+3 more
GUncertain significance
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