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Links from MedGen

Items: 1 to 100 of 184

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STK11
(E223*)
Single nucleotide variant
(nonsense +1 more)
Melanoma
GLikely pathogenic
STK11
(P144fs)
Deletion
(frameshift variant +1 more)
Melanoma
GLikely pathogenic
STK11
(G47fs)
Deletion
(frameshift variant +1 more)
Melanoma
GLikely pathogenic
BRAF
(V512D +7 more)
Indel
(missense variant)
Melanoma
GUncertain significance
DNMT3A
(R749C +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GPathogenic
BRCA2
(Y688C)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+2 more
GConflicting classifications of pathogenicity
CDKN2A
(H66P +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
RAC1
(P29S)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+3 more
GLikely pathogenic
MTOR
(P2213S)
Single nucleotide variant
(missense variant)
Melanoma
Gnot provided
MTOR
(H1968Y)
Single nucleotide variant
(missense variant)
Melanoma
Gnot provided
BRAF
(G466A +7 more)
Single nucleotide variant
(missense variant)
Melanoma
+6 more
GLikely pathogenic
BRAF
(F595S +7 more)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
BRAF
(V600L +7 more)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 1
GPathogenic/Likely pathogenic
BRAF
(V600A +7 more)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
BRAF
(K601del +7 more)
Deletion
(inframe_deletion)
Melanoma
GLikely pathogenic
BRAF
(K601N +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
BRAF
(K601N +7 more)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
BRAF
(S605F +7 more)
Indel
(missense variant)
Melanoma
GLikely pathogenic
BRAF
(S605N +7 more)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
KIT
(V825A +5 more)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
CTNNB1, LOC126806658
(T40I +1 more)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
CTNNB1, LOC126806658
(D32A +1 more)
Single nucleotide variant
(missense variant)
Neoplasm of uterine cervix
+8 more
GLikely pathogenic
CTNNB1, LOC126806658
Deletion
(inframe_deletion)
Melanoma
GLikely pathogenic
CTNNB1, LOC126806658
(V22A +1 more)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
CTNNB1, LOC126806658
Deletion
(inframe_deletion)
Melanoma
GLikely pathogenic
CTNNB1, LOC126806658
(A21T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTNNB1, LOC126806658
(A13T +1 more)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
NRAS
(Q61R)
Indel
(missense variant)
Melanoma
GLikely pathogenic
RAF1
(W368S +5 more)
Single nucleotide variant
(missense variant +1 more)
Melanoma
GLikely pathogenic
PDGFRA
(G853D +2 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
GUncertain significance
PDGFRA
(H845Y +2 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
GUncertain significance
PDGFRA
(R841K +2 more)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
PDGFRA
(V658A +2 more)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
PDGFRA
(P577S +2 more)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
MAP2K2
(V35M)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
MAP2K2
(L46F)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
MAP2K2
(Q60P)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
MAP2K2
(C125S)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
MAP2K2
(N126D)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 4
+1 more
GPathogenic/Likely pathogenic
MAP2K1
(F129L)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
MAP2K1
(K57N)
Single nucleotide variant
(missense variant)
Melanoma
+6 more
GLikely pathogenic
MAP2K1
(K57E)
Single nucleotide variant
(missense variant)
Melanoma
+1 more
GPathogenic/Likely pathogenic
ERBB4
(R393W)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
ERBB4
(E542K)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
ERBB4
(E872K)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
BRAF
(K601R +7 more)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
AKT1
(Q79K)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
BRAF
(R444W +7 more)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
BRAF
(G466E +7 more)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GConflicting classifications of pathogenicity
BRAF
(G469S +7 more)
Indel
(missense variant)
Melanoma
GLikely pathogenic
BRAF
(I592V +7 more)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
BRAF
(D594A +7 more)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
BRAF
(V600E +7 more)
Indel
(missense variant)
Melanoma
+1 more
GLikely pathogenic
KIT
(V654E +3 more)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
CTNNB1, LOC126806658
(D32H +1 more)
Single nucleotide variant
(missense variant)
Neoplasm of uterine cervix
+8 more
GLikely pathogenic
NRAS
(A18T)
Single nucleotide variant
(missense variant)
Melanoma
GLikely pathogenic
NRAS
(Q61*)
Single nucleotide variant
(nonsense)
Melanoma
GLikely pathogenic
GNA11
(Q209L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GNA11
(Q209P)
Single nucleotide variant
(missense variant)
Melanoma
+1 more
GPathogenic/Likely pathogenic
MAP2K1, SNAPC5
(N382H +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Melanoma
GPathogenic
MAP2K1
(P264S)
Single nucleotide variant
(missense variant)
Melanoma
GPathogenic
MAP2K1
(E203K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely pathogenic
MAP2K1
(P124S)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
MAP2K1
(C121S)
Single nucleotide variant
(missense variant)
Melanoma
+1 more
GPathogenic/Likely pathogenic
MAP2K1
(I111S)
Single nucleotide variant
(missense variant)
Melanoma
GPathogenic
MAP2K1
(Q56P)
Single nucleotide variant
(missense variant)
Non-small cell lung carcinoma
+1 more
GPathogenic
MAP2K1
(F53L)
Single nucleotide variant
(missense variant)
Melanoma
GPathogenic
GNAQ
(Q209P)
Single nucleotide variant
(missense variant)
Melanoma
+1 more
GPathogenic/Likely pathogenic
GNAQ
(Q209R)
Single nucleotide variant
(missense variant)
Sturge-Weber syndrome
GPathogenic
GNAQ
(Q209L)
Single nucleotide variant
(missense variant)
Melanoma
+1 more
GPathogenic/Likely pathogenic
BRAF
(D594N +7 more)
Indel
(missense variant)
Melanoma
+1 more
GPathogenic/Likely pathogenic
BRAF
(D594H +7 more)
Single nucleotide variant
(missense variant)
Melanoma
+9 more
GPathogenic/Likely pathogenic
BRAF
(D594V +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
BRAF
(D594E +7 more)
Single nucleotide variant
(missense variant)
Melanoma
GPathogenic
BRAF
(D594E +7 more)
Single nucleotide variant
(missense variant)
Melanoma
+1 more
GPathogenic/Likely pathogenic
BRAF
(G596R +7 more)
Single nucleotide variant
(missense variant)
Multiple myeloma
+5 more
GPathogenic/Likely pathogenic
BRAF
(L597S +7 more)
Indel
(missense variant)
Melanoma
GPathogenic
BRAF
(V600K +7 more)
Indel
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
BRAF
(V600R +7 more)
Indel
(missense variant)
Melanoma
GPathogenic
BRAF
(V600D +7 more)
Indel
(missense variant)
Melanoma
GPathogenic
KIT
(A829P +5 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
GLikely pathogenic
KIT
(N822K +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
KIT
(N822K +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KIT
(N822I +5 more)
Single nucleotide variant
(missense variant)
Melanoma
+2 more
GPathogenic/Likely pathogenic
KIT
(D820Y +5 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
GPathogenic
KIT
(D820H +5 more)
Single nucleotide variant
(missense variant)
Melanoma
GPathogenic
KIT
(N655K +3 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
GLikely pathogenic
KIT
(N655K +3 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
GPathogenic
KIT
(N655S +3 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
GUncertain significance
KIT
(V654A +3 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
GUncertain significance
KIT
(L576P +3 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+1 more
GPathogenic/Likely pathogenic
KIT
(V569G +3 more)
Single nucleotide variant
(missense variant)
Melanoma
GPathogenic
KIT
(N566D +3 more)
Single nucleotide variant
(missense variant)
Melanoma
GPathogenic
KIT
(V560G +3 more)
Single nucleotide variant
(missense variant)
Melanoma
+1 more
GPathogenic/Likely pathogenic
KIT
(V560A +3 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
GUncertain significance
KIT
(V560D +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
KIT
(V560del +3 more)
Microsatellite
(inframe_deletion)
Thymoma
+2 more
GPathogenic/Likely pathogenic
KIT
(V559G +3 more)
Single nucleotide variant
(missense variant)
Melanoma
+1 more
GPathogenic/Likely pathogenic
KIT
(K558N +3 more)
Single nucleotide variant
(missense variant)
Melanoma
+1 more
GPathogenic/Likely pathogenic
KIT
(K558N +3 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
GUncertain significance
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