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Links from MedGen

Items: 1 to 100 of 534

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SBDS
Single nucleotide variant
(splice acceptor variant)
Aplastic anemia
GLikely pathogenic
SBDS
Single nucleotide variant
(splice donor variant)
Aplastic anemia
GLikely pathogenic
SBDS
(N34I)
Single nucleotide variant
(missense variant)
Aplastic anemia
GLikely pathogenic
SBDS
Single nucleotide variant
(splice donor variant)
Aplastic anemia
GLikely pathogenic
SBDS
Single nucleotide variant
(splice acceptor variant)
Aplastic anemia
GLikely pathogenic
SBDS
(Q103fs)
Microsatellite
(frameshift variant)
Aplastic anemia
GPathogenic
SBDS
(W39fs)
Duplication
(frameshift variant)
Aplastic anemia
GLikely pathogenic
SBDS
Deletion
(splice acceptor variant)
Aplastic anemia
GLikely pathogenic
SBDS
(S143L)
Single nucleotide variant
(missense variant)
Aplastic anemia
GLikely pathogenic
SBDS
(R175fs)
Deletion
(frameshift variant)
Aplastic anemia
GLikely pathogenic
SBDS
(V36fs)
Deletion
(frameshift variant)
Aplastic anemia
GPathogenic
PRF1
(C73Y)
Single nucleotide variant
(missense variant)
Aplastic anemia
GLikely pathogenic
PRF1
(L360fs)
Deletion
(frameshift variant)
Familial hemophagocytic lymphohistiocytosis 2
+1 more
GPathogenic/Likely pathogenic
PRF1
(W425*)
Single nucleotide variant
(nonsense)
Familial hemophagocytic lymphohistiocytosis 2
+1 more
GPathogenic/Likely pathogenic
PRF1
(L314fs)
Indel
(frameshift variant)
Aplastic anemia
GPathogenic
PRF1
(E507*)
Single nucleotide variant
(nonsense)
Aplastic anemia
GPathogenic
PRF1
(G306C)
Single nucleotide variant
(missense variant)
Aplastic anemia
+1 more
GPathogenic
PRF1
(Q366*)
Single nucleotide variant
(nonsense)
Familial hemophagocytic lymphohistiocytosis 2
+1 more
GPathogenic/Likely pathogenic
PRF1
(G132R)
Single nucleotide variant
(missense variant)
Aplastic anemia
GPathogenic
PRF1
(R195fs)
Duplication
(frameshift variant)
Aplastic anemia
GLikely pathogenic
PRF1
(Q160*)
Single nucleotide variant
(nonsense)
Aplastic anemia
GLikely pathogenic
PRF1
(W328fs)
Deletion
(frameshift variant)
Aplastic anemia
GLikely pathogenic
PRF1
(E175*)
Single nucleotide variant
(nonsense)
Aplastic anemia
GLikely pathogenic
PRF1
(R232C)
Single nucleotide variant
(missense variant)
Aplastic anemia
+1 more
GPathogenic/Likely pathogenic
PRF1
(N78fs)
Duplication
(frameshift variant)
Aplastic anemia
GLikely pathogenic
PRF1
(H269fs)
Indel
(frameshift variant)
Aplastic anemia
GPathogenic
PRF1
Single nucleotide variant
(splice donor variant)
Familial hemophagocytic lymphohistiocytosis 2
+1 more
GPathogenic/Likely pathogenic
PRF1
(W461*)
Single nucleotide variant
(nonsense)
Aplastic anemia
GLikely pathogenic
NBN
(S287fs +1 more)
Duplication
(frameshift variant)
Aplastic anemia
GLikely pathogenic
NBN
Single nucleotide variant
(splice donor variant)
Aplastic anemia
GLikely pathogenic
NBN
(Q262fs +1 more)
Deletion
(frameshift variant)
Aplastic anemia
GLikely pathogenic
LOC126860438, NBN
(E543fs +1 more)
Duplication
(frameshift variant)
Aplastic anemia
GLikely pathogenic
NBN
Single nucleotide variant
(splice donor variant)
Aplastic anemia
GLikely pathogenic
NBN
(V122fs +1 more)
Duplication
(frameshift variant)
Aplastic anemia
GLikely pathogenic
NBN
(L4fs)
Deletion
(5 prime UTR variant +1 more)
Aplastic anemia
GLikely pathogenic
NBN
(W640* +1 more)
Single nucleotide variant
(nonsense)
Aplastic anemia
GLikely pathogenic
NBN
(E81fs)
Deletion
(5 prime UTR variant +1 more)
Aplastic anemia
GLikely pathogenic
NBN
(P184fs +1 more)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
NBN
(S372* +1 more)
Duplication
(nonsense)
Aplastic anemia
GLikely pathogenic
NBN
(P351fs +1 more)
Deletion
(frameshift variant)
Aplastic anemia
GLikely pathogenic
NBN
(L440* +1 more)
Single nucleotide variant
(nonsense)
Aplastic anemia
GLikely pathogenic
NBN
(E166fs +1 more)
Duplication
(frameshift variant)
Aplastic anemia
+1 more
GPathogenic/Likely pathogenic
NBN
(P527fs +1 more)
Deletion
(frameshift variant)
Aplastic anemia
GLikely pathogenic
LOC126860438, NBN
(S548* +1 more)
Single nucleotide variant
(nonsense)
Aplastic anemia
GLikely pathogenic
NBN
(A399V +1 more)
Single nucleotide variant
(missense variant)
Aplastic anemia
+1 more
GUncertain significance
NBN
Duplication
(splice donor variant)
Aplastic anemia
GLikely pathogenic
NBN
Deletion
(splice acceptor variant)
Aplastic anemia
GLikely pathogenic
NBN
(Q412L +1 more)
Single nucleotide variant
(missense variant)
Aplastic anemia
GUncertain significance
NBN
(Y376F +1 more)
Single nucleotide variant
(missense variant)
Aplastic anemia
GUncertain significance
NBN
Single nucleotide variant
(splice donor variant)
Microcephaly, normal intelligence and immunodeficiency
+2 more
GConflicting classifications of pathogenicity
NBN
(E388K +1 more)
Single nucleotide variant
(missense variant)
Aplastic anemia
GUncertain significance
NBN
(S565N +1 more)
Single nucleotide variant
(missense variant)
Aplastic anemia
GUncertain significance
NBN
(L580M +1 more)
Single nucleotide variant
(missense variant)
Aplastic anemia
GUncertain significance
NBN
(K326* +1 more)
Single nucleotide variant
(nonsense)
Aplastic anemia
+1 more
GPathogenic/Likely pathogenic
NBN
(H153P +1 more)
Single nucleotide variant
(missense variant)
Aplastic anemia
GUncertain significance
NBN
(Q262fs +1 more)
Duplication
(frameshift variant)
Aplastic anemia
GLikely pathogenic
NBN
(I223V +1 more)
Single nucleotide variant
(missense variant)
Aplastic anemia
GUncertain significance
NBN
(E14*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Aplastic anemia
GLikely pathogenic
NBN
Single nucleotide variant
(splice acceptor variant)
Aplastic anemia
GLikely pathogenic
NBN
(R386fs +1 more)
Duplication
(frameshift variant)
Aplastic anemia
GLikely pathogenic
NBN
(G598D +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
+1 more
GUncertain significance
NBN
(T415fs +1 more)
Deletion
(frameshift variant)
Aplastic anemia
GLikely pathogenic
NBN
(T381fs +1 more)
Deletion
(frameshift variant)
Aplastic anemia
GLikely pathogenic
NBN
(L440fs +1 more)
Insertion
(frameshift variant)
Aplastic anemia
GLikely pathogenic
NBN
(K252* +1 more)
Single nucleotide variant
(nonsense)
Aplastic anemia
GLikely pathogenic
NBN
(N179fs +1 more)
Deletion
(frameshift variant)
Aplastic anemia
GLikely pathogenic
PRF1
(T51fs)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic
PRF1
(P22fs)
Deletion
(frameshift variant)
Aplastic anemia
+1 more
GPathogenic
SBDS
(Q152fs)
Duplication
(frameshift variant)
Aplastic anemia
+1 more
GLikely pathogenic
NBN
(D569G +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
+2 more
GUncertain significance
PRF1
(Y219*)
Single nucleotide variant
(nonsense)
Familial hemophagocytic lymphohistiocytosis 2
+1 more
GPathogenic
PRF1
(R410P)
Single nucleotide variant
(missense variant)
Aplastic anemia
+1 more
GPathogenic/Likely pathogenic
PRF1
Deletion
(frameshift variant)
Familial hemophagocytic lymphohistiocytosis 2
+1 more
GPathogenic
PRF1
(D313V)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 2
+1 more
GPathogenic/Likely pathogenic
PRF1
(S150*)
Single nucleotide variant
(nonsense)
Familial hemophagocytic lymphohistiocytosis 2
+2 more
GPathogenic
PRF1
(H190Y)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis 2
+1 more
GUncertain significance
NBN
Deletion
(nonsense)
Aplastic anemia
+2 more
GConflicting classifications of pathogenicity
NBN
(R469fs +1 more)
Deletion
(frameshift variant)
Aplastic anemia
+1 more
GPathogenic/Likely pathogenic
NBN
(R217K +1 more)
Single nucleotide variant
(missense variant)
Aplastic anemia
+1 more
GUncertain significance
PRF1
(S168N)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SBDS
(V58A)
Single nucleotide variant
(missense variant)
Aplastic anemia
+2 more
GUncertain significance
TERT
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita
+9 more
GLikely benign
NBN
Inversion
(splice acceptor variant)
Aplastic anemia
+2 more
GLikely pathogenic
PRF1
(E253K)
Single nucleotide variant
(missense variant)
Aplastic anemia
+1 more
GPathogenic/Likely pathogenic
NBN
(Y240* +1 more)
Single nucleotide variant
(nonsense)
Microcephaly, normal intelligence and immunodeficiency
+1 more
GPathogenic
NBN
(L5fs)
Deletion
(5 prime UTR variant +1 more)
Microcephaly, normal intelligence and immunodeficiency
+1 more
GPathogenic/Likely pathogenic
NBN
Deletion
Microcephaly, normal intelligence and immunodeficiency
+1 more
GPathogenic/Likely pathogenic
NBN
(Q286R +1 more)
Single nucleotide variant
(missense variant)
Aplastic anemia
+3 more
GUncertain significance
PRF1
(L189fs)
Duplication
(frameshift variant)
Familial hemophagocytic lymphohistiocytosis 2
+1 more
GPathogenic/Likely pathogenic
PRF1
(R240C)
Single nucleotide variant
(missense variant)
Aplastic anemia
+2 more
GUncertain significance
NBN
(E512K +1 more)
Single nucleotide variant
(missense variant)
Aplastic anemia
+1 more
GUncertain significance
NBN
(P618R +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
+2 more
GUncertain significance
TERT
(A357G)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+9 more
GUncertain significance
NBN
(H45Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Microcephaly, normal intelligence and immunodeficiency
+2 more
GUncertain significance
LOC110806263, TERT
(G42R)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+7 more
GUncertain significance
NBN
(S11* +1 more)
Single nucleotide variant
(nonsense)
Microcephaly, normal intelligence and immunodeficiency
+1 more
GPathogenic/Likely pathogenic
NBN
(S427fs +1 more)
Duplication
(frameshift variant)
Microcephaly, normal intelligence and immunodeficiency
+1 more
GPathogenic/Likely pathogenic
NBN
(T409fs +1 more)
Deletion
(frameshift variant)
Microcephaly, normal intelligence and immunodeficiency
+1 more
GPathogenic/Likely pathogenic
NBN
(K151Q +1 more)
Single nucleotide variant
(missense variant)
Acute lymphoid leukemia
+2 more
GUncertain significance
PRF1
(Q481P)
Single nucleotide variant
(missense variant)
Familial hemophagocytic lymphohistiocytosis
+3 more
GConflicting classifications of pathogenicity
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