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Links from Gene

Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MS4A3
(E159K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MS4A3
(P75A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MS4A3
(C117S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MS4A3
(F99L +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MS4A3
(I146T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MS4A3
(V64I +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MS4A3
(H77R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACTN3, ACY3
+343 more
Copy number gain
not specified
GLikely pathogenic
AHNAK, APLNR
+225 more
Copy number gain
not specified
GLikely pathogenic
MS4A3
(I101S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MS4A3
(G21R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MS4A3
(N197S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MS4A3
(A60T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MS4A3
(I24M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MS4A3
(T58N +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MS4A3
(M61K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MS4A3
(T86I)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
AHNAK, ARL2
+182 more
Duplication
Leukocyte adhesion deficiency 3
GUncertain significance
MS4A3
(S167F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MS4A3
(V50L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MS4A3
(V128A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MS4A3
(A60P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MS4A3
(E10D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACP2, ACCS
+216 more
Copy number gain
See cases
GPathogenic
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
ASRGL1, BEST1
+72 more
Copy number gain
not provided
GLikely pathogenic
MS4A2, MS4A3
Copy number loss
not provided
GUncertain significance
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
MS4A14, MS4A2
+7 more
Copy number gain
See cases
GUncertain significance
LINC00301, LINC02705
+41 more
Copy number loss
See cases
GLikely benign
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