U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 116

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SH2D1A
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GBenign
SH2D1A
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GLikely benign
SH2D1A
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GLikely benign
SH2D1A
(I51T)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
Single nucleotide variant
(intron variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GLikely benign
SH2D1A
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GLikely benign
SH2D1A
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GLikely benign
SH2D1A
Single nucleotide variant
(splice donor variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GPathogenic
SH2D1A
Single nucleotide variant
(splice acceptor variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GPathogenic
SH2D1A
(C42*)
Single nucleotide variant
(nonsense)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GPathogenic
SH2D1A
Single nucleotide variant
(intron variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GLikely benign
SH2D1A
(H8P)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GConflicting classifications of pathogenicity
SH2D1A
(T53I)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
(M1V)
Single nucleotide variant
(missense variant +1 more)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GPathogenic
SH2D1A
Deletion
X-linked lymphoproliferative disease due to SH2D1A deficiency
GPathogenic
SH2D1A
Duplication
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
Deletion
X-linked lymphoproliferative disease due to SH2D1A deficiency
GPathogenic
SH2D1A
(A66P)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
(Q99*)
Single nucleotide variant
(nonsense)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GPathogenic
SH2D1A
(Q88fs)
Duplication
(frameshift variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GPathogenic
SH2D1A
(S34R)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
+1 more
GConflicting classifications of pathogenicity
SH2D1A
Deletion
(intron variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GBenign
SH2D1A
Single nucleotide variant
(intron variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GLikely benign
SH2D1A
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GLikely benign
SH2D1A
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GLikely benign
SH2D1A
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GLikely benign
SH2D1A
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GLikely benign
SH2D1A
(I84T)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GPathogenic
SH2D1A
(Y41N)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
(Y47C)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
+1 more
GConflicting classifications of pathogenicity
SH2D1A
Single nucleotide variant
(splice acceptor variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GPathogenic
SH2D1A
(Y54N)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GPathogenic
SH2D1A
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GLikely benign
SH2D1A
Single nucleotide variant
(intron variant)
SH2D1A-related condition
+1 more
GBenign/Likely benign
SH2D1A
Single nucleotide variant
(intron variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GLikely benign
SH2D1A
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GLikely benign
SH2D1A
Single nucleotide variant
(splice donor variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GLikely pathogenic
SH2D1A
(I114M +1 more)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
Single nucleotide variant
(stop lost)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
Deletion
X-linked lymphoproliferative disease due to SH2D1A deficiency
GPathogenic
SH2D1A
(N82fs)
Duplication
(frameshift variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GPathogenic
SH2D1A
(W64*)
Single nucleotide variant
(nonsense)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GPathogenic
SH2D1A
(M1T)
Single nucleotide variant
(missense variant +1 more)
X-linked lymphoproliferative disease due to SH2D1A deficiency
+1 more
GPathogenic/Likely pathogenic
SH2D1A
(G113V)
Single nucleotide variant
(missense variant +1 more)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
Single nucleotide variant
(intron variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
(G49V)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
(D91E)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
Complex
X-linked lymphoproliferative disease due to SH2D1A deficiency
GLikely pathogenic
SH2D1A
(A3S)
Single nucleotide variant
(missense variant)
Autoinflammatory syndrome
+2 more
GConflicting classifications of pathogenicity
SH2D1A
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GBenign
SH2D1A
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GLikely benign
SH2D1A
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GLikely benign
SH2D1A
Deletion
X-linked lymphoproliferative disease due to SH2D1A deficiency
GPathogenic
SH2D1A
Deletion
(splice donor variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GLikely pathogenic
SH2D1A
(H73Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SH2D1A
Duplication
(inframe_insertion)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
Single nucleotide variant
(synonymous variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GLikely benign
SH2D1A
(V40M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SH2D1A
(C44Y)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
Single nucleotide variant
(3 prime UTR variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
Single nucleotide variant
(3 prime UTR variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
Single nucleotide variant
(3 prime UTR variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
Single nucleotide variant
(3 prime UTR variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
Single nucleotide variant
(3 prime UTR variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
Single nucleotide variant
(3 prime UTR variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
Single nucleotide variant
(3 prime UTR variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
(C121S +1 more)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
(R55Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SH2D1A
(P121L +1 more)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
Single nucleotide variant
(intron variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GLikely benign
SH2D1A
Deletion
(intron variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GLikely benign
SH2D1A
Deletion
(intron variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
+2 more
GBenign/Likely benign
SH2D1A
Deletion
X-linked lymphoproliferative disease due to SH2D1A deficiency
GPathogenic
SH2D1A
Single nucleotide variant
(intron variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GLikely pathogenic
SH2D1A
Single nucleotide variant
(stop lost)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GLikely pathogenic
SH2D1A
(W64*)
Single nucleotide variant
(nonsense)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GPathogenic
SH2D1A
(D2G)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
+1 more
GLikely pathogenic
SH2D1A
(G39V)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
(K18R)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
+1 more
GConflicting classifications of pathogenicity
NTRK1, SH2D2A
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+2 more
GBenign
SH2D1A
Single nucleotide variant
(3 prime UTR variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
Single nucleotide variant
(3 prime UTR variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GBenign
SH2D1A
Single nucleotide variant
(3 prime UTR variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GBenign
SH2D1A
Single nucleotide variant
(3 prime UTR variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GBenign
SH2D1A
Single nucleotide variant
(3 prime UTR variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GBenign
SH2D1A
Single nucleotide variant
(3 prime UTR variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GBenign
SH2D1A
Single nucleotide variant
(3 prime UTR variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
+1 more
GConflicting classifications of pathogenicity
SH2D1A
Single nucleotide variant
(3 prime UTR variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
Single nucleotide variant
(3 prime UTR variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
Single nucleotide variant
(3 prime UTR variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GUncertain significance
SH2D1A
Single nucleotide variant
(3 prime UTR variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GBenign
SH2D1A
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
SH2D1A
Single nucleotide variant
(intron variant)
SH2D1A-related condition
+1 more
GBenign/Likely benign
SH2D1A
Single nucleotide variant
(synonymous variant)
Mullegama-Klein-Martinez syndrome
+4 more
GBenign/Likely benign
SH2D1A
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
SH2D1A
Single nucleotide variant
(5 prime UTR variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GBenign/Likely benign
SH2D1A
Single nucleotide variant
not provided
+1 more
GConflicting classifications of pathogenicity
SH2D1A
Single nucleotide variant
X-linked lymphoproliferative disease due to SH2D1A deficiency
GBenign
Format
Items per page
Sort by
Choose Destination