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Links from MedGen

Items: 1 to 100 of 206

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LIG4
(M569V +2 more)
Indel
(missense variant)
Multiple myeloma
+1 more
GUncertain significance
LIG4
(S808P +2 more)
Single nucleotide variant
(missense variant)
Multiple myeloma
GUncertain significance
LIG4
(I108T +2 more)
Single nucleotide variant
(missense variant)
DNA ligase IV deficiency
+1 more
GUncertain significance
LIG4
(M569V +2 more)
Single nucleotide variant
(missense variant)
DNA ligase IV deficiency
+2 more
GUncertain significance
LIG4
(M60I +2 more)
Single nucleotide variant
(missense variant)
DNA ligase IV deficiency
+1 more
GUncertain significance
LIG4
(P243S +2 more)
Single nucleotide variant
(missense variant)
DNA ligase IV deficiency
+1 more
GConflicting classifications of pathogenicity
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
+1 more
GConflicting classifications of pathogenicity
FLT3
(Y572H)
Single nucleotide variant
(missense variant +1 more)
Multiple myeloma
GLikely pathogenic
TET2
Insertion
Multiple myeloma
GLikely pathogenic
ARID4A
(E872*)
Single nucleotide variant
(nonsense)
Multiple myeloma
GLikely pathogenic
NF1
(H1805N +1 more)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
CYLD, CYLD-AS2
(D678fs +3 more)
Duplication
(frameshift variant +1 more)
Multiple myeloma
GLikely pathogenic
SGK1
(N393S +4 more)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
SH2B3
(P161S +1 more)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
P2RY8
(P290R)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
IL7R
(L69V)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 104
GUncertain significance
EIF1AX
(E99K)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
BARD1
Deletion
(inframe_deletion +1 more)
Multiple myeloma
GLikely pathogenic
ATM
(E1669K)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
CDKN2C
(A77E)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
DIS3
(I749F +3 more)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
RECQL4
(E1046K)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
GUncertain significance
H3C1
(E134Q)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
AURKA
(F346L)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
H1-4
(T45P)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
KMT2C
(L3046P)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
BCORL1
(Q748*)
Single nucleotide variant
(nonsense)
Multiple myeloma
GLikely pathogenic
SAMHD1
(E87Q)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
PIK3R2
(V284M)
Single nucleotide variant
(missense variant +1 more)
Multiple myeloma
GLikely pathogenic
TET2, TET2-AS1
(P480S)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
MGA
(E1245Q)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
YAP1
(S163C)
Single nucleotide variant
(missense variant +1 more)
Multiple myeloma
GLikely pathogenic
LATS1
(E537K +2 more)
Single nucleotide variant
(missense variant +1 more)
Multiple myeloma
GLikely pathogenic
FAT1
(M240I)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
ERF
(M76I +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple myeloma
GLikely pathogenic
DNMT3A
(A3S)
Single nucleotide variant
(missense variant +1 more)
Multiple myeloma
GLikely pathogenic
NCOR2
(S1960Y +1 more)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
H2AC16
(A15G)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
BAP1
(S596T)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
LOC130063979, PIK3R2
(S191*)
Single nucleotide variant
(nonsense +1 more)
Multiple myeloma
GLikely pathogenic
MST1R
(D493Y)
Single nucleotide variant
(missense variant +2 more)
Multiple myeloma
GLikely pathogenic
CRBN, TRNT1
(N366I +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Multiple myeloma
GLikely pathogenic
HDAC4
(P522L +1 more)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
KDM5C, LOC130068308
(E23*)
Single nucleotide variant
(nonsense +1 more)
Multiple myeloma
GLikely pathogenic
H2AC17
(E122K)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
TRAF5
(E419fs +1 more)
Microsatellite
(frameshift variant)
Multiple myeloma
GLikely pathogenic
KMT2C
(Q3061E)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
TET3
(E788K +1 more)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
NKX2-1, SFTA3
(A116T +1 more)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
TCF3
(A565T)
Single nucleotide variant
(missense variant +1 more)
Multiple myeloma
GLikely pathogenic
RXRA
(S127N +2 more)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
CREBBP
(I1692V +1 more)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
FAT1
(E890K)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
LIG4
(I238V +2 more)
Single nucleotide variant
(missense variant)
DNA ligase IV deficiency
+1 more
GConflicting classifications of pathogenicity
LIG4
(E786K +2 more)
Single nucleotide variant
(missense variant)
DNA ligase IV deficiency
+2 more
GUncertain significance
LIG4
(R628W +2 more)
Single nucleotide variant
(missense variant)
Multiple myeloma
+2 more
GUncertain significance
TP53
(Y166D +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GConflicting classifications of pathogenicity
TP53
(Y166H +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+2 more
GPathogenic/Likely pathogenic
TP53
(Y166N +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TP53
(Y166S +3 more)
Single nucleotide variant
(missense variant)
Squamous cell lung carcinoma
+15 more
GLikely pathogenic
TP53
(Y166F +3 more)
Single nucleotide variant
(missense variant)
Squamous cell carcinoma of the head and neck
+15 more
GLikely pathogenic
TP53
(Y166C +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+2 more
GPathogenic
TP53
(V140E +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+1 more
GConflicting classifications of pathogenicity
TP53
(R141S +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+2 more
GPathogenic
TP53
(R141L +3 more)
Single nucleotide variant
(missense variant)
Nasopharyngeal carcinoma
+14 more
GPathogenic
TP53
(R116G +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+3 more
GPathogenic/Likely pathogenic
TP53
(P146H +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GConflicting classifications of pathogenicity
TP53
(P146A +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
TP53
(P146R +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GConflicting classifications of pathogenicity
TP53
(P146T +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GPathogenic/Likely pathogenic
TP53
(P146S +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+3 more
GPathogenic/Likely pathogenic
TP53
(P112A +2 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
+1 more
GPathogenic
TP53
(P112R +2 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome 1
+2 more
GPathogenic/Likely pathogenic
TP53
(P112H +2 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
(K132M +1 more)
Single nucleotide variant
(missense variant +2 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
(K132Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome 1
+2 more
GConflicting classifications of pathogenicity
TP53
(K132T +1 more)
Single nucleotide variant
(missense variant +2 more)
Li-Fraumeni syndrome
+1 more
GConflicting classifications of pathogenicity
TP53
(K132E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
TP53
(K132R +1 more)
Single nucleotide variant
(missense variant +2 more)
Li-Fraumeni syndrome 1
+2 more
GPathogenic/Likely pathogenic
TP53
(K132N +1 more)
Single nucleotide variant
(missense variant +2 more)
Li-Fraumeni syndrome
GLikely pathogenic
TP53
(I156M +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GUncertain significance
TP53
(I156S +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+1 more
GConflicting classifications of pathogenicity
TP53
(I156N +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GConflicting classifications of pathogenicity
TP53
(I156F +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TP53
(D149A +3 more)
Single nucleotide variant
(missense variant)
Adrenocortical carcinoma, hereditary
GLikely pathogenic
TP53
(D149H +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GPathogenic/Likely pathogenic
TP53
(D149E +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
TP53
(D149N +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
TP53
(D149Y +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+1 more
GPathogenic/Likely pathogenic
TP53
(C143R +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GConflicting classifications of pathogenicity
TP53
(C143S +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GConflicting classifications of pathogenicity
TP53
(C143F +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
TP53
(C106G +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
TP53
(C106R +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GPathogenic/Likely pathogenic
TP53
(C106S +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
TP53
(C106F +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+2 more
GPathogenic/Likely pathogenic
TP53
(C102F +2 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
+1 more
GConflicting classifications of pathogenicity
TP53
(C102S +2 more)
Single nucleotide variant
(missense variant +1 more)
Prostate adenocarcinoma
+11 more
GLikely pathogenic
TP53
(C102G +2 more)
Single nucleotide variant
(missense variant +1 more)
Malignant neoplasm of body of uterus
+11 more
GLikely pathogenic
TP53
(C102R +2 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
+1 more
GConflicting classifications of pathogenicity
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