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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STIM1
(A8T)
Single nucleotide variant
(missense variant +4 more)
not provided
+4 more
GUncertain significance
STIM1
(R35W +1 more)
Single nucleotide variant
(missense variant +3 more)
not provided
+3 more
GUncertain significance
STIM1
(H109R +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GPathogenic
STIM1
(M139L +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
STIM1
(R302H +6 more)
Single nucleotide variant
(missense variant +1 more)
Stormorken syndrome
+4 more
GUncertain significance
STIM1
(M487T +6 more)
Single nucleotide variant
(missense variant +1 more)
Combined immunodeficiency due to STIM1 deficiency
+3 more
GUncertain significance
LOC124418421, STIM1
(R634Q +9 more)
Single nucleotide variant
(missense variant +2 more)
Combined immunodeficiency due to STIM1 deficiency
+3 more
GUncertain significance
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