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Items: 49

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDKN2A
(D153Y +2 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
CDKN2A
(A148T +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
+4 more
GBenign
CDKN2A
(R144C +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
+5 more
GBenign/Likely benign
CDKN2A
(A143T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
CDKN2A
(G139R +1 more)
Single nucleotide variant
(missense variant +1 more)
Melanoma-pancreatic cancer syndrome
+4 more
GConflicting classifications of pathogenicity
CDKN2A
Single nucleotide variant
(synonymous variant +1 more)
Familial melanoma
+4 more
GBenign/Likely benign
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
(D125H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
CDKN2A
(R124C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
CDKN2A
(H123Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
+4 more
GConflicting classifications of pathogenicity
CDKN2A
(G111S +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
+2 more
GUncertain significance
CDKN2A
(D105E +2 more)
Single nucleotide variant
(missense variant +1 more)
Melanoma and neural system tumor syndrome
+4 more
GConflicting classifications of pathogenicity
CDKN2A
(G101R +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
+2 more
GUncertain significance
CDKN2A
(G101W +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GPathogenic
CDKN2A
(P113R +2 more)
Single nucleotide variant
(missense variant +1 more)
Melanoma-pancreatic cancer syndrome
+2 more
GConflicting classifications of pathogenicity
CDKN2A
(G106R)
Single nucleotide variant
(synonymous variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
CDKN2A
(G89D +1 more)
Single nucleotide variant
(missense variant +2 more)
Melanoma-pancreatic cancer syndrome
+2 more
GPathogenic/Likely pathogenic
CDKN2A
(P30fs +2 more)
Deletion
(frameshift variant +1 more)
Familial melanoma
+2 more
GPathogenic
CDKN2A
(A97V +2 more)
Single nucleotide variant
(missense variant +1 more)
Melanoma-pancreatic cancer syndrome
+3 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
(R82L +2 more)
Indel
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GLikely pathogenic
CDKN2A
(S73R)
Single nucleotide variant
(synonymous variant +2 more)
Familial melanoma
+4 more
GBenign/Likely benign
CDKN2A
(Q70*)
Single nucleotide variant
(synonymous variant +2 more)
Melanoma-pancreatic cancer syndrome
GPathogenic
CDKN2A
Single nucleotide variant
(intron variant)
Hepatocellular carcinoma
+5 more
GConflicting classifications of pathogenicity
CDKN2A
Single nucleotide variant
(intron variant)
Melanoma-pancreatic cancer syndrome
+3 more
GBenign/Likely benign
CDKN2A
(G63R)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
+4 more
GConflicting classifications of pathogenicity
CDKN2A
(A57V)
Single nucleotide variant
(missense variant +1 more)
Melanoma-pancreatic cancer syndrome
+2 more
GBenign/Likely benign
CDKN2A
(V51M)
Single nucleotide variant
(missense variant +2 more)
Melanoma-pancreatic cancer syndrome
GLikely pathogenic
CDKN2A
(Q50R)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
CDKN2A
(I49S)
Single nucleotide variant
(missense variant +1 more)
Melanoma-pancreatic cancer syndrome
+4 more
GPathogenic/Likely pathogenic
CDKN2A
(P48R)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
+2 more
GConflicting classifications of pathogenicity
CDKN2A
(S43*)
Duplication
(nonsense +1 more)
Melanoma-pancreatic cancer syndrome
+1 more
GPathogenic
CDKN2A
(R24P)
Single nucleotide variant
(missense variant +1 more)
Melanoma and neural system tumor syndrome
+5 more
GPathogenic/Likely pathogenic
LOC130001603, CDKN2A
Microsatellite
(inframe_deletion +2 more)
Melanoma-pancreatic cancer syndrome
+5 more
GConflicting classifications of pathogenicity
CDKN2A, LOC130001603
Single nucleotide variant
(5 prime UTR variant +1 more)
Melanoma-pancreatic cancer syndrome
+6 more
GBenign/Likely benign
CDKN2A, LOC130001603
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
CDKN2A, LOC130001603
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+4 more
GBenign/Likely benign
CDKN2A, LOC130001603
Single nucleotide variant
(intron variant)
Melanoma-pancreatic cancer syndrome
GUncertain significance
CDKN2A
Single nucleotide variant
(intron variant)
Melanoma-pancreatic cancer syndrome
+1 more
GLikely benign
CDKN2A
(G56E)
Single nucleotide variant
(missense variant +2 more)
Melanoma and neural system tumor syndrome
+4 more
GUncertain significance
CDKN2A
(A36fs)
Deletion
(frameshift variant +1 more)
Melanoma-pancreatic cancer syndrome
GPathogenic
CDKN2A
(T31R)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
+4 more
GConflicting classifications of pathogenicity
CDKN2A
(I27L)
Single nucleotide variant
(missense variant +1 more)
Melanoma-pancreatic cancer syndrome
+3 more
GUncertain significance
CDKN2A
(F23L)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CDKN2A
Single nucleotide variant
(synonymous variant +1 more)
Familial melanoma
+4 more
GBenign/Likely benign
CDKN2A
(R21K)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
+2 more
GUncertain significance
CDKN2A
(C15R)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CDKN2A
(F5I)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
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