U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDKN2A
Deletion
(inframe_deletion +1 more)
Melanoma, cutaneous malignant, susceptibility to, 2
GPathogenic
CDKN2A
(T79I +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+5 more
GUncertain significance
CDKN2A
(R12Q)
Single nucleotide variant
(missense variant +2 more)
Familial melanoma
+3 more
GUncertain significance
CDKN2A
(Q50K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CDKN2A
(H66Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Melanoma and neural system tumor syndrome
+6 more
GUncertain significance
CDKN2A
(R99P +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GLikely pathogenic
CDKN2A
(R54S)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GUncertain significance
CDKN2A
(A57D +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
CDKN2A
(P113S)
Single nucleotide variant
(synonymous variant +2 more)
Familial melanoma
+2 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
Single nucleotide variant
(intron variant)
not provided
+4 more
GPathogenic/Likely pathogenic
CDKN2A
(N42S)
Single nucleotide variant
(missense variant +1 more)
Melanoma and neural system tumor syndrome
+4 more
GUncertain significance
CDKN2A
Single nucleotide variant
(intron variant +1 more)
not provided
+1 more
GPathogenic
CDKN2A
(G32R)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
CDKN2A
(R87P +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
CDKN2A
(A85T +2 more)
Single nucleotide variant
(missense variant +1 more)
Melanoma, cutaneous malignant, susceptibility to, 2
+4 more
GUncertain significance
CDKN2A
(G122V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GConflicting classifications of pathogenicity
CDKN2A, LOC130001603
Single nucleotide variant
(genic upstream transcript variant +1 more)
Hereditary cancer-predisposing syndrome
+7 more
GPathogenic
LOC130001603, CDKN2A
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
+6 more
GBenign/Likely benign
CDKN2A
(P41Q)
Single nucleotide variant
(missense variant +1 more)
Melanoma and neural system tumor syndrome
+6 more
GConflicting classifications of pathogenicity
CDKN2A
Microsatellite
(inframe_insertion +2 more)
not provided
+5 more
GPathogenic/Likely pathogenic
CDKN2A
(R144C +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
+5 more
GBenign/Likely benign
CDKN2A
(A127S +1 more)
Single nucleotide variant
(missense variant +1 more)
Melanoma-pancreatic cancer syndrome
+6 more
GBenign/Likely benign
CDKN2A
(R54H)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
CDKN2A
(G89D +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial melanoma
+3 more
GConflicting classifications of pathogenicity
CDKN2A
(S56I +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
CDKN2A
(P114S +2 more)
Indel
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
CDKN2A
(V59G +2 more)
Single nucleotide variant
(missense variant +1 more)
Melanoma and neural system tumor syndrome
+5 more
GPathogenic/Likely pathogenic
CDKN2A
(G122R +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
GUncertain significance
CDKN2A
(V126D +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic
CDKN2A
(R24P)
Single nucleotide variant
(missense variant +1 more)
Melanoma and neural system tumor syndrome
+5 more
GPathogenic/Likely pathogenic
CDKN2A
(M53I +2 more)
Single nucleotide variant
(missense variant +1 more)
Melanoma and neural system tumor syndrome
+3 more
GPathogenic
CDKN2A
Microsatellite
(inframe_insertion +1 more)
Melanoma, cutaneous malignant, susceptibility to, 2
Grisk factor
CDKN2A
(G101W +2 more)
Single nucleotide variant
(missense variant +1 more)
Melanoma and neural system tumor syndrome
+6 more
GPathogenic
CDKN2A
Deletion
Melanoma, cutaneous malignant, susceptibility to, 2
Grisk factor
CDKN2A
(A25fs +2 more)
Deletion
(frameshift variant +1 more)
Melanoma-pancreatic cancer syndrome
+1 more
GPathogenic; risk factor
CDKN2A
(P94L +2 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
CDKN2A
(G103E +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination