U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STIM1
(V322fs +6 more)
Deletion
(frameshift variant +1 more)
Myopathy, tubular aggregate, 1
GPathogenic
STIM1
(H72Q)
Single nucleotide variant
(missense variant +3 more)
Myopathy, tubular aggregate, 1
GPathogenic
STIM1
(V145I +5 more)
Single nucleotide variant
(missense variant +1 more)
Myopathy, tubular aggregate, 1
+4 more
GUncertain significance
STIM1
(P305fs +6 more)
Deletion
(frameshift variant +1 more)
Myopathy, tubular aggregate, 1
GLikely pathogenic
STIM1
(K514N +9 more)
Single nucleotide variant
(missense variant +2 more)
Myopathy, tubular aggregate, 1
GUncertain significance
STIM1
Single nucleotide variant
(intron variant)
Myopathy, tubular aggregate, 1
+4 more
GBenign
ORAI1
(V255I)
Single nucleotide variant
Myopathy, tubular aggregate, 2
+1 more
GLikely benign
STIM1
(R110Q +2 more)
Single nucleotide variant
(missense variant +3 more)
Combined immunodeficiency due to STIM1 deficiency
+4 more
GUncertain significance
STIM1
(R534H +1 more)
Single nucleotide variant
(missense variant +1 more)
Myopathy, tubular aggregate, 1
GUncertain significance
LOC124418421, STIM1
(P482A +9 more)
Single nucleotide variant
(missense variant +2 more)
Combined immunodeficiency due to STIM1 deficiency
+3 more
GUncertain significance
STIM1
(P157L +4 more)
Single nucleotide variant
(missense variant +2 more)
Myopathy, tubular aggregate, 1
+4 more
GUncertain significance
STIM1
(Q501K +7 more)
Single nucleotide variant
(missense variant +1 more)
Stormorken syndrome
+3 more
GUncertain significance
LOC130005171, LOC130005172
+13 more
Deletion
Stormorken syndrome
+3 more
GPathogenic
LOC124418421, STIM1
(A688V +9 more)
Single nucleotide variant
(missense variant +2 more)
Stormorken syndrome
+2 more
GUncertain significance
STIM1
(N234fs +5 more)
Deletion
(frameshift variant +1 more)
Stormorken syndrome
+2 more
GPathogenic
STIM1
Single nucleotide variant
(intron variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
LOC124418421, STIM1
(A585V +9 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+4 more
GUncertain significance
STIM1
(M461T +6 more)
Single nucleotide variant
(missense variant +1 more)
Stormorken syndrome
+3 more
GUncertain significance
STIM1
(P604A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
STIM1
(T153I +2 more)
Single nucleotide variant
(missense variant +3 more)
Combined immunodeficiency due to STIM1 deficiency
+4 more
GUncertain significance
STIM1
Single nucleotide variant
(synonymous variant +3 more)
Combined immunodeficiency due to STIM1 deficiency
+3 more
GBenign/Likely benign
STIM1
(L114F +2 more)
Single nucleotide variant
(missense variant +2 more)
Stormorken syndrome
+3 more
GUncertain significance
STIM1
(A610T +1 more)
Single nucleotide variant
(missense variant +1 more)
STIM1-related condition
+5 more
GConflicting classifications of pathogenicity
STIM1
Single nucleotide variant
(3 prime UTR variant +1 more)
Stormorken syndrome
+4 more
GBenign
STIM1
Single nucleotide variant
(synonymous variant +1 more)
Stormorken syndrome
+4 more
GBenign
STIM1
(S524F +9 more)
Single nucleotide variant
(missense variant +2 more)
Stormorken syndrome
+5 more
GConflicting classifications of pathogenicity
STIM1
(N80T +1 more)
Single nucleotide variant
(missense variant +2 more)
Myopathy with tubular aggregates
+2 more
GLikely pathogenic
STIM1
(I115F +2 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Stormorken syndrome
+2 more
GPathogenic
STIM1
(H109R +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GPathogenic
STIM1
(H109N +2 more)
Single nucleotide variant
(missense variant +2 more)
Myopathy, tubular aggregate, 1
GPathogenic
STIM1
(D84G +1 more)
Single nucleotide variant
(missense variant +2 more)
Myopathy, tubular aggregate, 1
GPathogenic
Format
Items per page
Sort by
Choose Destination