U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 115

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDKN2A
Single nucleotide variant
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 2
+4 more
GPathogenic/Likely pathogenic
CDKN2A
Deletion
(splice donor variant)
Familial melanoma
+3 more
GConflicting classifications of pathogenicity
CDKN2A
(D153Y +2 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
CDKN2A
(G150D +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CDKN2A
(D146G +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Melanoma and neural system tumor syndrome
+1 more
GUncertain significance
CDKN2A
(A92V +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CDKN2A
(A143G +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
+2 more
GUncertain significance
CDKN2A
(G139R +1 more)
Single nucleotide variant
(missense variant +1 more)
Melanoma-pancreatic cancer syndrome
+4 more
GConflicting classifications of pathogenicity
CDKN2A
(T137fs +1 more)
Duplication
(frameshift variant +1 more)
Familial melanoma
+4 more
GUncertain significance
CDKN2A
(G135V +1 more)
Single nucleotide variant
(missense variant +1 more)
Melanoma and neural system tumor syndrome
+2 more
GUncertain significance
CDKN2A
(Y129H +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
+2 more
GUncertain significance
CDKN2A
(A127P +1 more)
Single nucleotide variant
(missense variant +1 more)
Melanoma and neural system tumor syndrome
+4 more
GConflicting classifications of pathogenicity
CDKN2A
(V126D +1 more)
Single nucleotide variant
(missense variant +1 more)
Melanoma and neural system tumor syndrome
+5 more
GPathogenic
CDKN2A
(R124C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
CDKN2A
(G122V +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
+6 more
GConflicting classifications of pathogenicity
CDKN2A
(L70fs +1 more)
Duplication
(frameshift variant +1 more)
Melanoma and neural system tumor syndrome
+1 more
GPathogenic/Likely pathogenic
CDKN2A
(L121V +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
+4 more
GConflicting classifications of pathogenicity
CDKN2A
(V115E +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
CDKN2A
(R129P +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
+1 more
GUncertain significance
CDKN2A
(R129L +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
+4 more
GUncertain significance
CDKN2A
Duplication
(inframe_insertion +1 more)
not provided
+3 more
GPathogenic
CDKN2A
(P126R +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
CDKN2A
(G60V +1 more)
Single nucleotide variant
(missense variant +2 more)
Melanoma and neural system tumor syndrome
+1 more
GUncertain significance
CDKN2A
(A109P +2 more)
Single nucleotide variant
(missense variant +1 more)
Melanoma-pancreatic cancer syndrome
+5 more
GUncertain significance
CDKN2A
(R107P +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial melanoma
+2 more
GUncertain significance
CDKN2A
(R107H +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial melanoma
+4 more
GConflicting classifications of pathogenicity
CDKN2A
(D105E +2 more)
Single nucleotide variant
(missense variant +1 more)
Melanoma and neural system tumor syndrome
+4 more
GConflicting classifications of pathogenicity
CDKN2A
(A117V +2 more)
Single nucleotide variant
(missense variant +1 more)
Melanoma-pancreatic cancer syndrome
+5 more
GUncertain significance
CDKN2A
(G101V +1 more)
Single nucleotide variant
(missense variant +2 more)
Melanoma and neural system tumor syndrome
GUncertain significance
CDKN2A
(G101R +2 more)
Single nucleotide variant
(missense variant +1 more)
Melanoma and neural system tumor syndrome
+3 more
GUncertain significance
CDKN2A
(G101W +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GPathogenic
CDKN2A
(T42K +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
+2 more
GUncertain significance
CDKN2A
(R36L +1 more)
Single nucleotide variant
(missense variant +2 more)
Melanoma and neural system tumor syndrome
GUncertain significance
CDKN2A
(R87P +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
CDKN2A
(R87W +2 more)
Single nucleotide variant
(missense variant +1 more)
Melanoma-pancreatic cancer syndrome
+4 more
GLikely pathogenic
CDKN2A
(C100F +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CDKN2A
(A85S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GUncertain significance
CDKN2A
(A85T +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
CDKN2A
(D84A +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial melanoma
+3 more
GPathogenic/Likely pathogenic
CDKN2A
(A97V +2 more)
Single nucleotide variant
(missense variant +1 more)
Melanoma-pancreatic cancer syndrome
+3 more
GConflicting classifications of pathogenicity
CDKN2A
(R96fs +2 more)
Duplication
(frameshift variant +1 more)
Melanoma and neural system tumor syndrome
GLikely pathogenic
CDKN2A
(A25fs +2 more)
Deletion
(frameshift variant +1 more)
Familial melanoma
+4 more
GPathogenic
CDKN2A
(R88*)
Single nucleotide variant
(synonymous variant +2 more)
Melanoma and neural system tumor syndrome
+1 more
GConflicting classifications of pathogenicity
CDKN2A
(C72S +2 more)
Single nucleotide variant
(missense variant +1 more)
Melanoma and neural system tumor syndrome
+2 more
GUncertain significance
CDKN2A
(Q85fs +2 more)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
CDKN2A
(E69G +1 more)
Single nucleotide variant
(missense variant +2 more)
Melanoma and neural system tumor syndrome
+4 more
GConflicting classifications of pathogenicity
CDKN2A
(A68V +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
CDKN2A
(G67R +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
CDKN2A
(A77fs +2 more)
Duplication
(frameshift variant +1 more)
Melanoma and neural system tumor syndrome
GLikely pathogenic
CDKN2A
(G74C)
Single nucleotide variant
(synonymous variant +2 more)
Melanoma and neural system tumor syndrome
GUncertain significance
CDKN2A
(V59G +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GPathogenic/Likely pathogenic
CDKN2A
(P72R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
CDKN2A
(A57D +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GUncertain significance
CDKN2A
(A57G +1 more)
Single nucleotide variant
(missense variant +2 more)
Melanoma and neural system tumor syndrome
+3 more
GUncertain significance
CDKN2A
(R71S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
CDKN2A
(M54L +2 more)
Single nucleotide variant
(missense variant +1 more)
Melanoma-pancreatic cancer syndrome
+4 more
GConflicting classifications of pathogenicity
CDKN2A
(M53I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
CDKN2A
(M53I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic
CDKN2A
(M52T +1 more)
Single nucleotide variant
(missense variant +3 more)
not provided
+3 more
GUncertain significance
CDKN2A
Single nucleotide variant
(intron variant)
Melanoma and neural system tumor syndrome
+3 more
GUncertain significance
CDKN2A
(G52fs)
Deletion
(frameshift variant +1 more)
Melanoma and neural system tumor syndrome
+1 more
GUncertain significance
CDKN2A
(Q50R)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
CDKN2A
(Q50L)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
CDKN2A
(Q50*)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
CDKN2A
(I49S)
Single nucleotide variant
(missense variant +1 more)
Melanoma-pancreatic cancer syndrome
+4 more
GPathogenic/Likely pathogenic
CDKN2A
(I49T)
Single nucleotide variant
(missense variant +1 more)
Osteoblastic osteosarcoma
+7 more
GConflicting classifications of pathogenicity
CDKN2A
(R46W)
Single nucleotide variant
(missense variant +1 more)
Melanoma and neural system tumor syndrome
+2 more
GUncertain significance
CDKN2A
(Y44*)
Duplication
(nonsense +1 more)
not provided
+3 more
GPathogenic
CDKN2A
(P41Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
CDKN2A
(N39I)
Single nucleotide variant
(missense variant +1 more)
Melanoma and neural system tumor syndrome
GUncertain significance
CDKN2A
(N39S)
Single nucleotide variant
(missense variant +1 more)
Melanoma and neural system tumor syndrome
+2 more
GUncertain significance
CDKN2A
(A36V)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CDKN2A
(A36T)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
CDKN2A
(L32V)
Single nucleotide variant
(missense variant +1 more)
Melanoma and neural system tumor syndrome
+2 more
GUncertain significance
CDKN2A
(R29W)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CDKN2A
(V28L)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CDKN2A
(E27*)
Single nucleotide variant
(nonsense +1 more)
Melanoma and neural system tumor syndrome
+3 more
GPathogenic
CDKN2A
(V25L)
Single nucleotide variant
(missense variant +1 more)
Melanoma and neural system tumor syndrome
+2 more
GUncertain significance
CDKN2A
(R24L)
Single nucleotide variant
(missense variant +1 more)
Melanoma and neural system tumor syndrome
+2 more
GUncertain significance
CDKN2A
(R24P)
Single nucleotide variant
(missense variant +1 more)
Melanoma and neural system tumor syndrome
+5 more
GPathogenic/Likely pathogenic
CDKN2A
(G23C)
Single nucleotide variant
(missense variant +1 more)
Melanoma and neural system tumor syndrome
+2 more
GLikely pathogenic
CDKN2A
(G23S)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
+3 more
GLikely pathogenic
CDKN2A
(R22G)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
+2 more
GUncertain significance
CDKN2A
(R22W)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
+3 more
GUncertain significance
CDKN2A
(A21T)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
+3 more
GUncertain significance
CDKN2A
(A20S)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
+3 more
GUncertain significance
CDKN2A
(W15C)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
+4 more
GUncertain significance
CDKN2A
(A13S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CDKN2A
(S12W)
Single nucleotide variant
(missense variant +1 more)
Melanoma and neural system tumor syndrome
+1 more
GUncertain significance
CDKN2A
Microsatellite
(inframe_insertion +2 more)
Melanoma-pancreatic cancer syndrome
+5 more
GPathogenic/Likely pathogenic
LOC130001603, CDKN2A
Microsatellite
(inframe_deletion +2 more)
Melanoma-pancreatic cancer syndrome
+5 more
GConflicting classifications of pathogenicity
CDKN2A
(M9L)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
CDKN2A, LOC130001603
Deletion
(intron variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CDKN2A, LOC130001603
Single nucleotide variant
(genic upstream transcript variant +1 more)
Melanoma and neural system tumor syndrome
+7 more
GPathogenic
CDKN2A
(R62I)
Single nucleotide variant
(missense variant +2 more)
Familial melanoma
+2 more
GUncertain significance
CDKN2A
(Q57R)
Single nucleotide variant
(missense variant +2 more)
Familial melanoma
+3 more
GUncertain significance
CDKN2A
(G56E)
Single nucleotide variant
(missense variant +2 more)
Melanoma and neural system tumor syndrome
+4 more
GUncertain significance
CDKN2A
(R54C)
Single nucleotide variant
(missense variant +2 more)
Melanoma and neural system tumor syndrome
+2 more
GUncertain significance
CDKN2A
(R54S)
Single nucleotide variant
(missense variant +2 more)
Melanoma and neural system tumor syndrome
+4 more
GUncertain significance
CDKN2A
(S52N)
Single nucleotide variant
(missense variant +2 more)
Melanoma and neural system tumor syndrome
GUncertain significance
Format
Items per page
Sort by
Choose Destination