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Links from MedGen

Items: 1 to 100 of 1715

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDKN2A
Deletion
Familial melanoma
GPathogenic
CDKN2A
Deletion
Familial melanoma
GPathogenic
CDKN2A
Duplication
Familial melanoma
GUncertain significance
CDKN2A
Duplication
Familial melanoma
GUncertain significance
CDKN2A
Deletion
Familial melanoma
GPathogenic
CDK4
Duplication
Familial melanoma
GUncertain significance
CDK4
Deletion
Familial melanoma
GUncertain significance
CDK4
Single nucleotide variant
(synonymous variant)
Familial melanoma
+1 more
GBenign/Likely benign
CDK4
Single nucleotide variant
(intron variant)
Familial melanoma
GLikely benign
CDK4
Single nucleotide variant
(intron variant)
Familial melanoma
+1 more
GLikely benign
CDK4, LOC130008148
(F66S)
Single nucleotide variant
(missense variant)
Familial melanoma
GUncertain significance
CDK4, TSPAN31
(E266K)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
GUncertain significance
CDK4
Single nucleotide variant
(synonymous variant)
Familial melanoma
+1 more
GBenign/Likely benign
CDKN2A
Single nucleotide variant
(synonymous variant +1 more)
Familial melanoma
GLikely benign
CDK4
Single nucleotide variant
(synonymous variant)
Familial melanoma
GLikely benign
CDK4, TSPAN31
(S267A)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
+1 more
GUncertain significance
CDK4
(V20A)
Single nucleotide variant
(missense variant)
Familial melanoma
GUncertain significance
CDKN2A
(R47K)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
GUncertain significance
CDKN2A
Single nucleotide variant
(synonymous variant +1 more)
Familial melanoma
GLikely benign
CDK4
Single nucleotide variant
(intron variant)
Familial melanoma
GLikely benign
CDK4
Single nucleotide variant
(intron variant)
Familial melanoma
GLikely benign
CDK4, TSPAN31
(S259P)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
GUncertain significance
CDK4, LOC130008148
Single nucleotide variant
(intron variant)
Familial melanoma
GUncertain significance
CDKN2A
(E18A +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial melanoma
GUncertain significance
CDKN2A
Single nucleotide variant
(synonymous variant +1 more)
Familial melanoma
GLikely benign
CDK4, TSPAN31
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial melanoma
+1 more
GLikely benign
CDKN2A
Single nucleotide variant
(intron variant)
Familial melanoma
GLikely benign
CDK4, MIR6759
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Familial melanoma
GLikely benign
CDKN2A
(D84E +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
GUncertain significance
CDKN2A
(R99L +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial melanoma
GUncertain significance
CDKN2A
(P41fs)
Deletion
(frameshift variant +1 more)
Familial melanoma
GPathogenic
CDK4
(V14A)
Single nucleotide variant
(missense variant)
Familial melanoma
GUncertain significance
CDKN2A
Deletion
(intron variant)
Familial melanoma
GLikely benign
CDK4, MIR6759
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Familial melanoma
GLikely benign
CDKN2A
Single nucleotide variant
(synonymous variant +1 more)
Familial melanoma
GLikely benign
CDKN2A
(E33V)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
GUncertain significance
CDKN2A
Single nucleotide variant
(synonymous variant +1 more)
Familial melanoma
GUncertain significance
CDK4, TSPAN31
Single nucleotide variant
(synonymous variant +1 more)
Familial melanoma
GLikely benign
CDK4
(T116R)
Indel
(missense variant)
Familial melanoma
GUncertain significance
CDK4
Single nucleotide variant
(intron variant)
Familial melanoma
+1 more
GLikely benign
CDK4
(L74M)
Single nucleotide variant
(missense variant)
Familial melanoma
GUncertain significance
CDK4
(I12T)
Single nucleotide variant
(missense variant)
Familial melanoma
GUncertain significance
CDK4
Single nucleotide variant
(synonymous variant)
Familial melanoma
GLikely benign
CDKN2A
Duplication
(intron variant)
Familial melanoma
GLikely benign
CDK4, TSPAN31
(D298V)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
GUncertain significance
CDK4, LOC130008148
(R62P)
Single nucleotide variant
(missense variant)
Familial melanoma
GUncertain significance
CDK4
(G15V)
Single nucleotide variant
(missense variant)
Familial melanoma
GUncertain significance
CDKN2A
(R98fs +2 more)
Deletion
(frameshift variant +1 more)
Familial melanoma
GPathogenic
CDK4
(D105G)
Single nucleotide variant
(missense variant)
Familial melanoma
GUncertain significance
CDK4, LOC130008148
(G43A)
Single nucleotide variant
(missense variant)
Familial melanoma
GUncertain significance
CDK4
(I164S)
Single nucleotide variant
(missense variant)
Familial melanoma
GUncertain significance
CDK4, TSPAN31
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial melanoma
GLikely benign
CDK4
(R101K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CDKN2A
Single nucleotide variant
(intron variant)
Familial melanoma
GLikely benign
CDKN2A
(L12fs +2 more)
Deletion
(frameshift variant +1 more)
Familial melanoma
GPathogenic
CDK4, TSPAN31
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial melanoma
GLikely benign
CDK4
(W179R)
Single nucleotide variant
(missense variant)
Familial melanoma
GUncertain significance
CDK4, TSPAN31
Single nucleotide variant
(synonymous variant +1 more)
Familial melanoma
GLikely benign
CDK4, TSPAN31
(C215Y)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
GUncertain significance
CDKN2A
(H123Y +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial melanoma
GUncertain significance
CDK4
Single nucleotide variant
(synonymous variant)
Familial melanoma
GLikely benign
CDK4
Single nucleotide variant
(synonymous variant)
Familial melanoma
GLikely benign
CDK4
(W198R)
Single nucleotide variant
(missense variant)
Familial melanoma
GUncertain significance
CDK4
(D84V)
Single nucleotide variant
(missense variant)
Familial melanoma
GUncertain significance
CDK4, TSPAN31
(V257M)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
GUncertain significance
CDK4
(E115*)
Single nucleotide variant
(nonsense)
Familial melanoma
GUncertain significance
CDK4, TSPAN31
Single nucleotide variant
(synonymous variant +1 more)
Familial melanoma
GLikely benign
CDK4, LOC130008148
(E64G)
Single nucleotide variant
(missense variant)
Familial melanoma
GUncertain significance
CDK4
Single nucleotide variant
(synonymous variant)
Familial melanoma
GLikely benign
CDK4
(S4C)
Single nucleotide variant
(missense variant)
Familial melanoma
GUncertain significance
CDK4, LOC130008148
(N70H)
Single nucleotide variant
(missense variant)
Familial melanoma
GUncertain significance
CDKN2A
(D146Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
GUncertain significance
CDK4, LOC130008148
Single nucleotide variant
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 3
+1 more
GLikely benign
CDK4
(R5*)
Single nucleotide variant
(nonsense)
Familial melanoma
GUncertain significance
CDKN2A
Single nucleotide variant
(intron variant)
Familial melanoma
GLikely benign
CDK4, TSPAN31
Single nucleotide variant
(synonymous variant +1 more)
Familial melanoma
GLikely benign
CDK4, LOC130008148
Deletion
(inframe_indel)
Familial melanoma
GUncertain significance
CDKN2A
(L27V +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
GUncertain significance
CDK4
Single nucleotide variant
(intron variant)
Familial melanoma
GLikely benign
CDK4, TSPAN31
(G300V)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
GUncertain significance
CDK4, MIR6759
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Familial melanoma
GLikely benign
CDKN2A
(E33K)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
GUncertain significance
CDKN2A
(P41S)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
GUncertain significance
CDKN2A
Single nucleotide variant
(intron variant)
Familial melanoma
GLikely benign
CDK4
(I136M)
Single nucleotide variant
(missense variant)
Familial melanoma
GUncertain significance
CDKN2A
(Y44fs)
Deletion
(frameshift variant +1 more)
Familial melanoma
GPathogenic
CDK4
Single nucleotide variant
(intron variant)
Familial melanoma
GLikely benign
CDK4
(T177K)
Single nucleotide variant
(missense variant)
Familial melanoma
GUncertain significance
CDKN2A
Single nucleotide variant
(synonymous variant +1 more)
Familial melanoma
GLikely benign
CDK4, TSPAN31
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial melanoma
GLikely benign
CDK4, LOC130008148
Single nucleotide variant
(intron variant)
Familial melanoma
GLikely benign
CDKN2A
(G52R)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
GUncertain significance
CDK4, TSPAN31
(P239L)
Single nucleotide variant
(missense variant +1 more)
Familial melanoma
GUncertain significance
CDK4
(L104V)
Single nucleotide variant
(missense variant)
Familial melanoma
+1 more
GUncertain significance
CDKN2A
(L13V +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CDKN2A
(R61C +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CDK4
Single nucleotide variant
(synonymous variant)
Familial melanoma
GLikely benign
CDK4
(R126T)
Single nucleotide variant
(missense variant)
Familial melanoma
+1 more
GUncertain significance
CDKN2A
(R144C +1 more)
Indel
(missense variant +1 more)
Familial melanoma
GLikely benign
CDKN2A
(Y129fs +1 more)
Deletion
(frameshift variant +1 more)
Familial melanoma
GPathogenic
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