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Links from MedGen

Items: 1 to 100 of 142

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNB1
(G172R +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 42
+2 more
GLikely pathogenic
PAX5
(A214fs +2 more)
Deletion
(frameshift variant +2 more)
Acute lymphoid leukemia
GLikely pathogenic
PAX5
(V90fs)
Duplication
(frameshift variant +3 more)
Acute lymphoid leukemia
GLikely pathogenic
PAX5
(A214fs +2 more)
Duplication
(frameshift variant +2 more)
Acute lymphoid leukemia
GLikely pathogenic
PAX5
(A45fs)
Deletion
(frameshift variant +2 more)
Acute lymphoid leukemia
GLikely pathogenic
PAX5
(G215* +2 more)
Single nucleotide variant
(nonsense +2 more)
Acute lymphoid leukemia
GLikely pathogenic
PAX5
(P130T +1 more)
Single nucleotide variant
(missense variant +2 more)
Acute lymphoid leukemia
GLikely pathogenic
PAX5
(S66N)
Single nucleotide variant
(missense variant +2 more)
Acute lymphoid leukemia
GUncertain significance
ERG
Insertion
(inframe_indel)
Acute lymphoid leukemia
GUncertain significance
ERG
(D247G +5 more)
Single nucleotide variant
(missense variant +1 more)
Acute lymphoid leukemia
GUncertain significance
ERG
(D247N +5 more)
Single nucleotide variant
(missense variant +1 more)
Acute lymphoid leukemia
GUncertain significance
ERG
(A252T +5 more)
Single nucleotide variant
(missense variant +1 more)
Acute lymphoid leukemia
GUncertain significance
ERG
(M127I +2 more)
Single nucleotide variant
(missense variant)
Acute lymphoid leukemia
GUncertain significance
PAX5
(G281R +5 more)
Single nucleotide variant
(nonsense +3 more)
Acute lymphoid leukemia
GLikely pathogenic
CDKN2B, CDKN2B-AS1
+1 more
(N44S)
Single nucleotide variant
(missense variant)
Acute lymphoid leukemia
GUncertain significance
CDKN2A
(S73fs +2 more)
Indel
(frameshift variant +1 more)
Acute lymphoid leukemia
GLikely pathogenic
CDKN2A
Indel
(splice acceptor variant)
Acute lymphoid leukemia
GLikely pathogenic
IKZF1
(R281* +11 more)
Single nucleotide variant
(nonsense)
Acute lymphoid leukemia
GUncertain significance
IKZF1
(P113fs +1 more)
Insertion
(frameshift variant +1 more)
Acute lymphoid leukemia
GLikely pathogenic
IKZF1
(C150* +2 more)
Single nucleotide variant
(nonsense +1 more)
Acute lymphoid leukemia
GLikely pathogenic
PAX5
Single nucleotide variant
(splice donor variant)
Acute lymphoid leukemia
GLikely pathogenic
IKZF1
(Q146fs +2 more)
Indel
(intron variant +1 more)
Acute lymphoid leukemia
GLikely pathogenic
IKZF1
(K111* +1 more)
Single nucleotide variant
(nonsense +1 more)
Acute lymphoid leukemia
GLikely pathogenic
IKZF1
(N159Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Acute lymphoid leukemia
GLikely pathogenic
LOC105376032, PAX5
(N129fs +2 more)
Insertion
(frameshift variant +2 more)
Acute lymphoid leukemia
GLikely pathogenic
PAX5
(E139* +3 more)
Single nucleotide variant
(nonsense +1 more)
Acute lymphoid leukemia
GLikely pathogenic
PAX5
(G281fs)
Deletion
(nonsense +3 more)
Acute lymphoid leukemia
GLikely pathogenic
PAX5
Deletion
(intron variant)
Acute lymphoid leukemia
GUncertain significance
PAX5
(S134C +1 more)
Single nucleotide variant
(missense variant +2 more)
Acute lymphoid leukemia
GLikely pathogenic
PAX5
(V26G)
Single nucleotide variant
(missense variant +2 more)
Acute lymphoid leukemia
GLikely pathogenic
IKZF1
(A138V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
IKZF1
(T96M)
Single nucleotide variant
(missense variant +1 more)
Acute lymphoid leukemia
GUncertain significance
IKZF1
(M9T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IKZF1
(S163T +11 more)
Single nucleotide variant
(missense variant)
Acute lymphoid leukemia
GUncertain significance
IKZF1
(V239L +11 more)
Single nucleotide variant
(missense variant)
Acute lymphoid leukemia
GUncertain significance
IKZF1
(M133T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GNB1
Single nucleotide variant
(synonymous variant)
Acute lymphoid leukemia
+3 more
GLikely benign
NBN
(Q286R +1 more)
Single nucleotide variant
(missense variant)
Aplastic anemia
+3 more
GUncertain significance
NBN
(H45Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Microcephaly, normal intelligence and immunodeficiency
+2 more
GUncertain significance
IKZF1
(R83*)
Single nucleotide variant
(nonsense +1 more)
Acute lymphoid leukemia
+1 more
GPathogenic
NBN
(K151Q +1 more)
Single nucleotide variant
(missense variant)
Acute lymphoid leukemia
+2 more
GUncertain significance
IKZF1
(S115N +10 more)
Single nucleotide variant
(missense variant)
Acute lymphoid leukemia
GUncertain significance
IKZF1
(Q119H +10 more)
Single nucleotide variant
(missense variant)
Pancytopenia due to IKZF1 mutations
+1 more
GUncertain significance
NBN
(M513V +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
IKZF1
(L177P +1 more)
Single nucleotide variant
(missense variant +1 more)
Acute lymphoid leukemia
+1 more
GLikely pathogenic
NBN
(S287* +1 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
BCR
Single nucleotide variant
(synonymous variant)
Acute lymphoid leukemia
+2 more
GBenign/Likely benign
GNB1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
NBN
(V26F)
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
NBN
(S486F +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
BCR
Single nucleotide variant
(synonymous variant)
Chronic myelogenous leukemia, BCR-ABL1 positive
+1 more
GUncertain significance
NBN
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
BCR
(P229S)
Single nucleotide variant
(missense variant)
Acute lymphoid leukemia
+1 more
GUncertain significance
BCR
(A786T)
Single nucleotide variant
(missense variant)
Acute lymphoid leukemia
+1 more
GUncertain significance
PAX5
Single nucleotide variant
(missense variant +3 more)
Acute lymphoid leukemia
GLikely pathogenic
LOC105376032, PAX5
(Q145H +2 more)
Single nucleotide variant
(missense variant +1 more)
Acute lymphoid leukemia
GUncertain significance
NBN
(Q326E +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
NBN
(Q39K)
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
NBN
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
+4 more
GBenign
NBN
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
+5 more
GBenign/Likely benign
NBN
(T144I +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
+3 more
GUncertain significance
NBN
(P427T +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
NBN
(K468fs +1 more)
Deletion
(frameshift variant)
Aplastic anemia
+4 more
GPathogenic/Likely pathogenic
NBN
(P116fs +1 more)
Indel
(frameshift variant)
not provided
+4 more
GPathogenic/Likely pathogenic
NBN
(V172A +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
+3 more
GUncertain significance
CDKN2A
(H93P +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
+2 more
GUncertain significance
NBN
(V243L +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
+3 more
GUncertain significance
NBN
(G168E +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
NBN
(L4R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
NBN
Single nucleotide variant
(splice acceptor variant)
not provided
+4 more
GPathogenic/Likely pathogenic
Microcephaly, normal intelligence and immunodeficiency
GPathogenic
NBN
(P354S +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
+3 more
GUncertain significance
NBN
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GBenign/Likely benign
NBN
Single nucleotide variant
(synonymous variant)
Microcephaly, normal intelligence and immunodeficiency
+3 more
GLikely benign
NBN
(E585G +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
+5 more
GConflicting classifications of pathogenicity
NBN
Deletion
(splice donor variant)
Aplastic anemia
+4 more
GPathogenic
NBN
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
NBN
Deletion
(5 prime UTR variant +1 more)
Microcephaly, normal intelligence and immunodeficiency
+6 more
GPathogenic/Likely pathogenic
NBN
(R107fs +1 more)
Duplication
(frameshift variant)
Microcephaly, normal intelligence and immunodeficiency
+2 more
GPathogenic/Likely pathogenic
NBN
(R89* +1 more)
Single nucleotide variant
(nonsense)
Aplastic anemia
+4 more
GPathogenic/Likely pathogenic
NBN
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
+4 more
GBenign
NBN
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign
NBN
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
+4 more
GBenign
NBN
(I310T +1 more)
Single nucleotide variant
(missense variant)
Aplastic anemia
+3 more
GUncertain significance
NBN
(D121H +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
+3 more
GUncertain significance
GNB1
(I80N)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal dominant 42
+2 more
GPathogenic
GNB1
(D76G)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GPathogenic
NBN
(V114F +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
NBN
(Q583* +1 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
NBN
Single nucleotide variant
(splice acceptor variant)
Hereditary cancer-predisposing syndrome
+5 more
GLikely pathogenic
NBN
(M416T +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
+5 more
GUncertain significance
NBN
(N71fs)
Insertion
(5 prime UTR variant +1 more)
Microcephaly, normal intelligence and immunodeficiency
+3 more
GPathogenic/Likely pathogenic
NBN
Single nucleotide variant
(intron variant)
Microcephaly, normal intelligence and immunodeficiency
+4 more
GBenign
ETV6, LOC126861452
(L349P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
ETV6
Microsatellite
(intron variant)
Inborn genetic diseases
+1 more
GPathogenic
NBN
(Q344* +1 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
NBN
(F87S +1 more)
Single nucleotide variant
(missense variant)
Aplastic anemia
+3 more
GUncertain significance
NBN
(P413fs +1 more)
Indel
(frameshift variant)
Aplastic anemia
+4 more
GPathogenic/Likely pathogenic
NBN
(I228R +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
NBN
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely benign
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