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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001226, LOC130001227
+1407 more
Copy number gain
See cases
GPathogenic
SLA, TG
Single nucleotide variant
(intron variant)
not provided
GBenign
SLA, TG
Single nucleotide variant
(intron variant)
not provided
GBenign
TG, SLA
(R2455C)
Single nucleotide variant
(missense variant +1 more)
Iodotyrosyl coupling defect
+2 more
GUncertain significance
TG, SLA
(T2467I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLA, TG
Single nucleotide variant
(intron variant)
not provided
GBenign
SLA, TG
Single nucleotide variant
(intron variant)
not provided
GBenign
SLA, TG
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
SLA, TG
(D2484Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLA, TG
(R2489C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLA, TG
(W2501Q)
Inversion
(missense variant +1 more)
not provided
+1 more
GUncertain significance
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