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Links from MedGen

Items: 1 to 100 of 671

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CR2
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GUncertain significance
CR2
(C197S)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 7
GLikely pathogenic
CR2
(Q700* +1 more)
Single nucleotide variant
(nonsense)
Immunodeficiency, common variable, 7
GPathogenic
CR2, LOC126805994
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
(L445V)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 7
GUncertain significance
CR2
(H921N +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 7
GUncertain significance
CR2
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
(L1024fs +1 more)
Deletion
(frameshift variant)
Immunodeficiency, common variable, 7
GPathogenic
CR2
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
(Y506*)
Single nucleotide variant
(nonsense)
Immunodeficiency, common variable, 7
GPathogenic
CR2, LOC126805994
(R368*)
Single nucleotide variant
(nonsense)
Immunodeficiency, common variable, 7
GPathogenic
CR2
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
(R888S +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 7
GUncertain significance
CR2
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency, common variable, 7
GLikely benign
CR2
(L1077* +1 more)
Single nucleotide variant
(nonsense)
Immunodeficiency, common variable, 7
GPathogenic
CR2
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2, LOC126805994
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2, LOC126805994
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2, LOC126805994
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Microsatellite
(intron variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
(G224E)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 7
GUncertain significance
CR2
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(synonymous variant +1 more)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
(V14fs)
Duplication
(frameshift variant)
Immunodeficiency, common variable, 7
GPathogenic
CR2
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
(A213E)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 7
GUncertain significance
CR2
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
(F486fs)
Deletion
(frameshift variant)
Immunodeficiency, common variable, 7
GPathogenic
CR2
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2, LOC126805994
(Y297C)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 7
+1 more
GUncertain significance
CR2
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 7
+1 more
GConflicting classifications of pathogenicity
CR2
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
(A42V)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 7
GUncertain significance
CR2
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
(F680fs)
Deletion
(frameshift variant +1 more)
Immunodeficiency, common variable, 7
GLikely pathogenic
CR2
(G1038S +1 more)
Single nucleotide variant
(missense variant)
Systemic lupus erythematosus, susceptibility to, 9
+1 more
GUncertain significance
CR2
(E940D +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 7
GUncertain significance
CR2, LOC126805994
(A339S)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 7
GUncertain significance
CR2, LOC126805994
(R368Q)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 7
GUncertain significance
CR2
(G442D)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 7
GUncertain significance
CR2
Deletion
(inframe_indel)
Immunodeficiency, common variable, 7
GUncertain significance
CR2
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
(T1010K +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 7
+1 more
GUncertain significance
CR2
(Q663L +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 7
GUncertain significance
CR2
(Y694C)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency, common variable, 7
+1 more
GUncertain significance
CR2
(I451K)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 7
+1 more
GUncertain significance
CR2
(C495Y)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 7
GUncertain significance
LOC126805994, CR2
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 7
GUncertain significance
CR2
(Q261R)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 7
+1 more
GUncertain significance
CR2
(R520C)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 7
GUncertain significance
CR2
(M124V)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 7
+1 more
GUncertain significance
CR2
(G250D)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 7
GUncertain significance
CR2, LOC126805994
(R392*)
Single nucleotide variant
(nonsense)
Immunodeficiency, common variable, 7
GPathogenic
CR2
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
(R428H)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 7
GUncertain significance
CR2
(G615V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CR2
(L939V +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 7
GUncertain significance
CR2
(K1000R +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 7
GUncertain significance
CR2
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 7
GUncertain significance
CR2, LOC126805994
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 7
GUncertain significance
CR2
(R233Q)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 7
GUncertain significance
CR2
(D808fs +1 more)
Deletion
(frameshift variant)
Immunodeficiency, common variable, 7
GPathogenic
CR2, LOC126805994
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 7
GLikely benign
LOC126805994, CR2
Single nucleotide variant
(synonymous variant)
CR2-related disorder
+1 more
GLikely benign
LOC126805994, CR2
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
(G186D)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 7
GUncertain significance
CR2
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
(S804C +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 7
GUncertain significance
CR2, LOC126805994
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 7
GLikely benign
CR2
Single nucleotide variant
(intron variant)
Immunodeficiency, common variable, 7
GLikely benign
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