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Items: 98

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC110806263, TERT
Single nucleotide variant
Dyskeratosis congenita, autosomal dominant 2
+2 more
GLikely pathogenic
OOncogenic
BRAF
(Q257R +4 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
PTEN
(Q298E +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GLikely benign
STK11
(E2A)
Single nucleotide variant
(missense variant)
Peutz-Jeghers syndrome
+3 more
GUncertain significance
STK11
(V3M)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
STK11
(V4L)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+1 more
GUncertain significance
STK11
(M11fs)
Duplication
(frameshift variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+1 more
GPathogenic/Likely pathogenic
STK11
(L9Q)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+2 more
GUncertain significance
STK11
(M11V)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+3 more
GUncertain significance
STK11
(L17V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
STK11
(M18I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
STK11
(G21S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
STK11
(M22V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
STK11
(T24M)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+3 more
GConflicting classifications of pathogenicity
STK11
(S31F)
Single nucleotide variant
(missense variant +1 more)
Melanoma, cutaneous malignant, susceptibility to, 1
GUncertain significance
STK11
(T32I)
Single nucleotide variant
(missense variant +1 more)
Melanoma, cutaneous malignant, susceptibility to, 1
+1 more
GUncertain significance
STK11
(P38R)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
STK11
(R39C)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+2 more
GUncertain significance
STK11
(R42Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
STK11
(A43V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
STK11
(L45V)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+2 more
GUncertain significance
STK11
(M51L)
Single nucleotide variant
(missense variant)
Peutz-Jeghers syndrome
+3 more
GUncertain significance
STK11
(V77I)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+2 more
GUncertain significance
STK11
(I79V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
STK11
(L80V)
Single nucleotide variant
(missense variant)
Peutz-Jeghers syndrome
+2 more
GUncertain significance
STK11
(K84del)
Microsatellite
(inframe_deletion)
Peutz-Jeghers syndrome
+2 more
GUncertain significance
STK11
(R86*)
Single nucleotide variant
(nonsense)
Melanoma, cutaneous malignant, susceptibility to, 1
+1 more
GPathogenic
STK11
(Q100R)
Single nucleotide variant
(missense variant)
Peutz-Jeghers syndrome
+4 more
GUncertain significance
STK11
(R104W)
Single nucleotide variant
(missense variant)
Peutz-Jeghers syndrome
+2 more
GUncertain significance
STK11
(D115A)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
STK11
(L117S)
Single nucleotide variant
(missense variant)
Peutz-Jeghers syndrome
+2 more
GUncertain significance
STK11
(E120Q)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
STK11
(E120K)
Single nucleotide variant
(missense variant)
Carcinoma of pancreas
+5 more
GUncertain significance
STK11
(G155R)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+1 more
GUncertain significance
STK11
(G155R)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
STK11
(S193A)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
STK11
(H202R)
Single nucleotide variant
(missense variant)
Peutz-Jeghers syndrome
+2 more
GUncertain significance
STK11
(A205T)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+4 more
GConflicting classifications of pathogenicity
STK11
(D208N)
Single nucleotide variant
(missense variant)
Peutz-Jeghers syndrome
+2 more
GUncertain significance
STK11
(T209P)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+1 more
GUncertain significance
STK11
(N226D)
Single nucleotide variant
(missense variant +1 more)
Melanoma, cutaneous malignant, susceptibility to, 1
GUncertain significance
STK11
(F231del)
Deletion
(inframe_deletion +1 more)
Peutz-Jeghers syndrome
+1 more
GUncertain significance
STK11
(K235T)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+3 more
GUncertain significance
STK11
(I238V)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+1 more
GUncertain significance
STK11
(S240L)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+2 more
GUncertain significance
STK11
(A241T)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
STK11
(I267V)
Single nucleotide variant
(missense variant)
Peutz-Jeghers syndrome
+2 more
GUncertain significance
STK11
(A273V)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+3 more
GConflicting classifications of pathogenicity
STK11
(P280T)
Single nucleotide variant
(missense variant +1 more)
Melanoma, cutaneous malignant, susceptibility to, 1
+1 more
GUncertain significance
STK11
(P281R)
Single nucleotide variant
(missense variant)
Peutz-Jeghers syndrome
+2 more
GConflicting classifications of pathogenicity
STK11
(P294S)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+2 more
GUncertain significance
STK11
(A295G)
Single nucleotide variant
(missense variant +1 more)
Melanoma, cutaneous malignant, susceptibility to, 1
GUncertain significance
STK11
(K296N)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
STK11
Single nucleotide variant
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 1
GUncertain significance
STK11
Single nucleotide variant
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 1
GUncertain significance
STK11
(R310Q)
Single nucleotide variant
(missense variant)
Peutz-Jeghers syndrome
+3 more
GUncertain significance
STK11
(K312N)
Single nucleotide variant
(missense variant +1 more)
Melanoma, cutaneous malignant, susceptibility to, 1
GUncertain significance
STK11
(P324del)
Deletion
(inframe_deletion)
not provided
+3 more
GUncertain significance
STK11
(P324L)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+3 more
GUncertain significance
STK11
(P326T)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
STK11
(P326L)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+2 more
GUncertain significance
LOC130062899, STK11
(P339A)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+4 more
GUncertain significance
LOC130062899, STK11
(P339R)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+2 more
GUncertain significance
LOC130062899, STK11
(P339L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
LOC130062899, STK11
(D343Y)
Single nucleotide variant
(missense variant +1 more)
Melanoma, cutaneous malignant, susceptibility to, 1
GUncertain significance
LOC130062899, STK11
Deletion
(inframe_deletion)
Peutz-Jeghers syndrome
+3 more
GUncertain significance
LOC130062899, STK11
(E351K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
LOC130062899, STK11
(I356T)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+1 more
GUncertain significance
LOC130062899, STK11
(D359N)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+1 more
GUncertain significance
LOC130062899, STK11
(I360F)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+1 more
GUncertain significance
LOC130062899, STK11
(T363N)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+1 more
GUncertain significance
LOC130062899, STK11
(P369S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
LOC130062899, STK11
(G370R)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+2 more
GUncertain significance
STK11
(V372I)
Single nucleotide variant
(missense variant)
Peutz-Jeghers syndrome
+2 more
GUncertain significance
STK11
(V390L)
Single nucleotide variant
(missense variant +1 more)
Melanoma, cutaneous malignant, susceptibility to, 1
GUncertain significance
STK11
(N393S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
STK11
(G394R)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+2 more
GUncertain significance
STK11
(E396Q)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+2 more
GUncertain significance
STK11
(A398L)
Indel
(missense variant)
Peutz-Jeghers syndrome
+2 more
GUncertain significance
STK11
(Q399H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
STK11
(S401N)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
STK11
(R405W)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
STK11
(A406fs)
Deletion
(frameshift variant +1 more)
Melanoma, cutaneous malignant, susceptibility to, 1
GLikely pathogenic
STK11
(A406G)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+3 more
GUncertain significance
STK11
(R409L)
Single nucleotide variant
(missense variant)
Peutz-Jeghers syndrome
+2 more
GConflicting classifications of pathogenicity
STK11
(A410D)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
STK11
(N412S)
Single nucleotide variant
(missense variant)
Peutz-Jeghers syndrome
+4 more
GUncertain significance
STK11
(P413S)
Single nucleotide variant
(missense variant)
Peutz-Jeghers syndrome
+2 more
GUncertain significance
STK11
(R415G)
Single nucleotide variant
(missense variant)
Peutz-Jeghers syndrome
+5 more
GUncertain significance
STK11
(R415H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
STK11
(S421L)
Inversion
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+3 more
GConflicting classifications of pathogenicity
STK11
(S421N)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+2 more
GUncertain significance
STK11
(R425C)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+2 more
GUncertain significance
STK11
(R425P)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+3 more
GUncertain significance
STK11
(R426G)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 1
+3 more
GConflicting classifications of pathogenicity
STK11
(S428P)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
+1 more
GUncertain significance
STK11
(S428T)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
STK11
(Q432R)
Single nucleotide variant
(missense variant +1 more)
Melanoma, cutaneous malignant, susceptibility to, 1
GUncertain significance
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