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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126653398, TSPEAR
+1 more
(S585I +1 more)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
+1 more
GConflicting classifications of pathogenicity
TSPEAR
(L490Q +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 98
+2 more
GConflicting classifications of pathogenicity
TSPEAR
(G475S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TSPEAR
(W458* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
TSPEAR
(A352T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPEAR
(Y314* +1 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
TSPEAR
(G195R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPEAR
(A140D +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TSPEAR
(R134C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TSPEAR
(D115N +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TSPEAR
(V51I)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
TSPEAR
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
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