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Items: 1 to 100 of 559

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIR138-2, MIR140
+1738 more
Copy number gain
See cases
GPathogenic
LOC130059829, LOC130059830
+1429 more
Copy number gain
See cases
GPathogenic
LOC108281164, LOC109029536
+1426 more
Copy number gain
See cases
GPathogenic
LOC130059834, LOC130059835
+1424 more
Copy number gain
See cases
GPathogenic
LOC130059850, LOC130059851
+1041 more
Copy number gain
See cases
GPathogenic
PKD1L2, PKD1L3
+1031 more
Copy number gain
See cases
GPathogenic
LOC130059772, LOC130059773
+832 more
Copy number gain
See cases
GPathogenic
LOC132090418, LOC132090419
+788 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+781 more
Copy number gain
See cases
GPathogenic
LOC130059746, LOC130059747
+719 more
Copy number gain
See cases
GPathogenic
LOC130059500, LOC130059501
+691 more
Copy number gain
See cases
GPathogenic
LOC132090448, LOC132090449
+677 more
Copy number gain
See cases
GPathogenic
LOC130059591, LOC130059592
+670 more
Copy number gain
See cases
GPathogenic
LOC130059691, LOC130059692
+566 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+531 more
Copy number gain
See cases
GLikely pathogenic
ACSF3, ADAD2
+534 more
Copy number gain
See cases
GLikely pathogenic
ACSF3, ANKRD11
+420 more
Copy number gain
See cases
GPathogenic
ACSF3, ANKRD11
+268 more
Copy number gain
See cases
GLikely pathogenic
ACSF3, ANKRD11
+267 more
Copy number gain
See cases
GPathogenic
CDK10, CENPBD1
+68 more
Copy number gain
See cases
GUncertain significance
CENPBD1, DBNDD1
+51 more
Copy number loss
See cases
GUncertain significance
LOC130059838, LOC130059839
+18 more
Deletion
Fanconi anemia
GPathogenic
FANCA, LOC112486223
+30 more
Copy number loss
See cases
GUncertain significance
CENPBD1, DBNDD1
+30 more
Copy number loss
See cases
GUncertain significance
MC1R
Deletion
not provided
GBenign
MC1R
Single nucleotide variant
not provided
GBenign
MC1R
Single nucleotide variant
Melanoma, cutaneous malignant, susceptibility to, 5
GBenign
MC1R
Single nucleotide variant
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
not provided
+1 more
GBenign
MC1R
Single nucleotide variant
Melanoma, cutaneous malignant, susceptibility to, 5
+1 more
GBenign/Likely benign
MC1R
Single nucleotide variant
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
Melanoma, cutaneous malignant, susceptibility to, 5
GBenign
MC1R
Single nucleotide variant
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
Melanoma, cutaneous malignant, susceptibility to, 5
GBenign
MC1R
Single nucleotide variant
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
not provided
GLikely benign
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GBenign
MC1R
Single nucleotide variant
(genic downstream transcript variant)
not provided
+1 more
GBenign
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GBenign
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(genic downstream transcript variant)
not provided
+1 more
GBenign
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GLikely benign
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
+1 more
GBenign
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GBenign
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
+1 more
GUncertain significance
MC1R
Single nucleotide variant
(genic downstream transcript variant)
not provided
+1 more
GBenign
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(genic downstream transcript variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GBenign
MC1R
Single nucleotide variant
(genic downstream transcript variant)
not provided
+1 more
GBenign
MC1R
Single nucleotide variant
(5 prime UTR variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GBenign
MC1R
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
MC1R
Single nucleotide variant
(5 prime UTR variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(5 prime UTR variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(5 prime UTR variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(5 prime UTR variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GBenign
MC1R
Deletion
(5 prime UTR variant)
Malignant Melanoma Susceptibility
GUncertain significance
MC1R
Single nucleotide variant
(5 prime UTR variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
MC1R
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
MC1R
Single nucleotide variant
(5 prime UTR variant)
Melanoma, cutaneous malignant, susceptibility to, 5
+1 more
GUncertain significance
MC1R
Single nucleotide variant
(5 prime UTR variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(5 prime UTR variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Duplication
(5 prime UTR variant)
Malignant Melanoma Susceptibility
GLikely benign
MC1R
Deletion
(inframe_deletion +1 more)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(5 prime UTR variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GBenign
MC1R
(A2S)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 5
+1 more
GUncertain significance
MC1R
(V3M)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
(Q4*)
Single nucleotide variant
(nonsense)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
(Q4L)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
(Q7R)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
(R9del)
Microsatellite
(inframe_deletion)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
(R8K)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GLikely benign
MC1R
(L11fs)
Deletion
(frameshift variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
(G12D)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
(N15T)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
(N15K)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
MC1R
Single nucleotide variant
(synonymous variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GLikely benign
MC1R
(T17N)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 5
GUncertain significance
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