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Items: 1 to 100 of 2616

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862060, LOC126862061
+3282 more
Copy number gain
See cases
GPathogenic
LOC125048449, LOC125048450
+3277 more
Copy number gain
See cases
GPathogenic
SAMD15, SEL1L
+503 more
Copy number loss
See cases
GPathogenic
ABCD4, ACOT1
+299 more
Copy number loss
See cases
GLikely pathogenic
LOC130056651, LOC130056652
+1423 more
Copy number gain
See cases
GPathogenic
ABCD4, ACYP1
+227 more
Copy number loss
See cases
GPathogenic
ACYP1, BATF
+71 more
Copy number loss
See cases
GUncertain significance
MLH3, EIF2B2
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GLikely benign
EIF2B2, MLH3
Single nucleotide variant
(3 prime UTR variant)
Vanishing white matter disease
+1 more
GLikely benign
EIF2B2, MLH3
Single nucleotide variant
(3 prime UTR variant)
Lynch syndrome
+2 more
GBenign/Likely benign
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
EIF2B2, MLH3
Single nucleotide variant
(3 prime UTR variant)
Lynch syndrome
+3 more
GBenign/Likely benign
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
EIF2B2, MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
+2 more
GLikely benign
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Deletion
(3 prime UTR variant)
Lynch syndrome
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
EIF2B2, MLH3
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GLikely benign
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GLikely benign
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GLikely benign
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
+1 more
GBenign
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GLikely benign
MLH3
Deletion
(3 prime UTR variant)
Lynch syndrome
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GLikely benign
MLH3
Deletion
(3 prime UTR variant)
Lynch syndrome
GLikely benign
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GLikely benign
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Indel
(3 prime UTR variant)
Lynch syndrome
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
MLH3
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Duplication
(3 prime UTR variant)
Lynch syndrome
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(3 prime UTR variant)
MLH3-related disorder
GLikely benign
MLH3
Single nucleotide variant
(stop lost)
not specified
GUncertain significance
MLH3
Single nucleotide variant
(stop lost)
Colorectal cancer, hereditary nonpolyposis, type 7
+1 more
GUncertain significance
MLH3
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MLH3
(P1453L +1 more)
Single nucleotide variant
(missense variant)
Colorectal cancer, hereditary nonpolyposis, type 7
+1 more
GUncertain significance
MLH3
(P1429T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MLH3
(P1453S +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MLH3
(P1428S +1 more)
Single nucleotide variant
(missense variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MLH3
(E1427A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MLH3
(E1427Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MLH3
(E1451K +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MLH3
(C1426R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MLH3
Single nucleotide variant
(synonymous variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GLikely benign
MLH3
(P1449L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MLH3
(P1449R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MLH3
(P1424A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MLH3
(M1423L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MLH3
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MLH3
(Q1421H +1 more)
Single nucleotide variant
(missense variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GUncertain significance
MLH3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
MLH3
(Q1421fs +1 more)
Duplication
(frameshift variant)
not specified
GUncertain significance
MLH3
(Q1444P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MLH3
Single nucleotide variant
(synonymous variant)
Colorectal cancer, hereditary nonpolyposis, type 7
+1 more
GLikely benign
MLH3
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MLH3
Single nucleotide variant
(synonymous variant)
Colorectal cancer, hereditary nonpolyposis, type 7
GLikely benign
MLH3
(S1418N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MLH3
(S1418G +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MLH3
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MLH3
(Q1417* +1 more)
Single nucleotide variant
(nonsense)
Colorectal cancer, hereditary nonpolyposis, type 7
+1 more
GUncertain significance
MLH3
(R1440T +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
MLH3
(R1416G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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