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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC108663996, TBP
(Q47R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBP, LOC108663996
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
LOC108663996, TBP
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LOC108663996, TBP
(Q62H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC108663996, TBP
(Q62H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC108663996, TBP
(Q90R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC108663996, TBP
(Q92H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBP
(S105P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBP
(S115L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBP
(A118T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
TBP
(P99T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBP
(T109P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBP
(P131L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBP
(G114C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBP
(P137L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TBP
(A155G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBP
(A184V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBP
(R186H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBP
(S195G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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