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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC108663996, TBP
(Q47R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC108663996, TBP
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
LOC108663996, TBP
(Q62H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBP, LOC108663996
(Q62H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBP, LOC108663996
(Q92H +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
(P99T +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
(R186H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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