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Items: 1 to 100 of 589

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAPDH, GAU1
+477 more
Deletion
Tumoral calcinosis, hyperphosphatemic, familial, 1
Gnot provided
ACRBP, ADIPOR2
+348 more
Copy number gain
See cases
GPathogenic
TAS2R9, TEAD4
+1258 more
Copy number gain
See cases
GPathogenic
CLEC12A, CLEC12A-AS1
+1258 more
Copy number gain
See cases
GPathogenic
LOC126861410, LOC126861411
+1258 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+1009 more
Copy number gain
See cases
GPathogenic
LOC130007230, LOC130007231
+1257 more
Copy number gain
See cases
GPathogenic
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
LOC126861494, LOC126861495
+1257 more
Copy number gain
See cases
GPathogenic
CACNA1C-AS2, CACNA1C-AS4
+1242 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+853 more
Copy number gain
See cases
GPathogenic
LOC130007190, LOC130007191
+698 more
Copy number gain
See cases
GPathogenic
CD9, LOC112163621
+19 more
Copy number gain
See cases
GUncertain significance
TNFRSF1A
Single nucleotide variant
(3 prime UTR variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(3 prime UTR variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Microsatellite
(3 prime UTR variant +1 more)
Familial Periodic Fever
GUncertain significance
TNFRSF1A
Microsatellite
(3 prime UTR variant +1 more)
Familial Periodic Fever
GUncertain significance
TNFRSF1A
Single nucleotide variant
(3 prime UTR variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Duplication
(3 prime UTR variant +1 more)
Familial Periodic Fever
GLikely benign
TNFRSF1A
Single nucleotide variant
(3 prime UTR variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
+1 more
GBenign
TNFRSF1A
Single nucleotide variant
(3 prime UTR variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(3 prime UTR variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(3 prime UTR variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
+1 more
GConflicting classifications of pathogenicity
TNFRSF1A
Single nucleotide variant
(3 prime UTR variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(3 prime UTR variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(3 prime UTR variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(3 prime UTR variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
+1 more
GConflicting classifications of pathogenicity
TNFRSF1A
Single nucleotide variant
(3 prime UTR variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(S452R +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(S299C +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(P343S +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(A297G +2 more)
Single nucleotide variant
(missense variant +1 more)
Autoinflammatory syndrome
+1 more
GUncertain significance
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(P295Q +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(P448R +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(P295L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TNFRSF1A
(G443V +2 more)
Single nucleotide variant
(missense variant +1 more)
Autoinflammatory syndrome
+3 more
GConflicting classifications of pathogenicity
TNFRSF1A
(G290C +2 more)
Single nucleotide variant
(missense variant +1 more)
Autoinflammatory syndrome
GUncertain significance
TNFRSF1A
(C289Y +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(C289S +2 more)
Single nucleotide variant
(missense variant +1 more)
See cases
+1 more
GUncertain significance
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(L441H +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(A287T +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(E285K +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(E285Q +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(D283G +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
+1 more
GUncertain significance
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TNFRSF1A
(L431P +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(D276Y +2 more)
Single nucleotide variant
(missense variant +1 more)
TNFRSF1A-related disorder
GUncertain significance
TNFRSF1A
(V316A +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
TNFRSF1A
(E419G +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
+1 more
GUncertain significance
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(A416V +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(A263T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TNFRSF1A
(R260Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Autoinflammatory syndrome
+1 more
GUncertain significance
TNFRSF1A
(P259L +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(P412A +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(R302C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TNFRSF1A
(R256L +2 more)
Single nucleotide variant
(missense variant +1 more)
Autoinflammatory syndrome
+2 more
GUncertain significance
TNFRSF1A
(R301W +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
TNFRSF1A
(R300G +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(T253I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
Autoinflammatory syndrome
+2 more
GConflicting classifications of pathogenicity
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(R397C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TNFRSF1A
(R241S +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
+1 more
GUncertain significance
TNFRSF1A
(G240W +2 more)
Single nucleotide variant
(missense variant +1 more)
Autoinflammatory syndrome
GUncertain significance
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(E236K +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(R234Q +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(R387W +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(K219T +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
+2 more
GConflicting classifications of pathogenicity
TNFRSF1A
(R217C +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(P215Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TNFRSF1A
(P367S +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(V258E +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(E211G +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(V210L +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNFRSF1A-related disorder
GLikely benign
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
+1 more
GConflicting classifications of pathogenicity
TNFRSF1A
(A208T +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
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