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Items: 1 to 100 of 337

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130008916, LOC130008917
+4836 more
Copy number gain
See cases
GPathogenic
TRD-GTC2-10, TRD-GTC2-9
+906 more
Copy number gain
See cases
GPathogenic
AACS, ABCB9
+892 more
Copy number gain
See cases
GPathogenic
HNF1A, HNF1A-AS1
+786 more
Copy number gain
See cases
GPathogenic
AACS, ABCB9
+663 more
Copy number gain
See cases
GPathogenic
AACS, ABCB9
+416 more
Copy number loss
See cases
GPathogenic
AACS, ABCB9
+330 more
Copy number loss
See cases
GPathogenic
AACS, ATP6V0A2
+292 more
Copy number loss
See cases
GPathogenic
AACS, ADGRD1
+412 more
Copy number gain
See cases
GPathogenic
AACS, ADGRD1
+408 more
Copy number gain
See cases
GPathogenic
NCOR2
(S2457C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(D2512Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(L2500V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(T2499R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(Y2497S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(Q2496L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(Q2450K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(P2491S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(W2495R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(H2483Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(A2433T +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
NCOR2
(A2427V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(A2427T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(P2422L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
Single nucleotide variant
(synonymous variant)
NCOR2-related disorder
GLikely benign
NCOR2
(R2411Q +2 more)
Single nucleotide variant
(missense variant)
NCOR2-related disorder
GUncertain significance
NCOR2
Single nucleotide variant
(intron variant)
NCOR2-related disorder
GLikely benign
NCOR2
Single nucleotide variant
(synonymous variant)
NCOR2-related disorder
GLikely benign
NCOR2
(R2435H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(R2389C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
Single nucleotide variant
(synonymous variant)
NCOR2-related disorder
GBenign
NCOR2
Single nucleotide variant
(synonymous variant)
NCOR2-related disorder
GBenign
NCOR2
(A2411V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(G2341S +2 more)
Single nucleotide variant
(missense variant)
NCOR2-related disorder
GLikely benign
NCOR2
Single nucleotide variant
(synonymous variant)
NCOR2-related disorder
GLikely benign
NCOR2
(A2372T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NCOR2
(P2349L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NCOR2
(S2347T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NCOR2
(T2325S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(Y2314C +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NCOR2
(G2245D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
Single nucleotide variant
(synonymous variant)
NCOR2-related disorder
+1 more
GLikely benign
NCOR2
(V2238M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
NCOR2
Single nucleotide variant
(synonymous variant)
NCOR2-related disorder
GLikely benign
NCOR2
Single nucleotide variant
(synonymous variant)
NCOR2-related disorder
GLikely benign
NCOR2
(V2212L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(T2199P +1 more)
Single nucleotide variant
(missense variant)
NCOR2-related disorder
GBenign
NCOR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NCOR2
Single nucleotide variant
(synonymous variant)
NCOR2-related disorder
GBenign
NCOR2
(S2184Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
Single nucleotide variant
(synonymous variant)
NCOR2-related disorder
GLikely benign
NCOR2
(P2173L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(R2174H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(R2164C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NCOR2
Single nucleotide variant
(intron variant)
NCOR2-related disorder
GLikely benign
NCOR2
(L2106M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
Single nucleotide variant
(synonymous variant)
NCOR2-related disorder
GBenign
NCOR2
(P2105L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(P2097L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(A2088T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
Single nucleotide variant
(intron variant)
not provided
GBenign
NCOR2
(R2074Q +1 more)
Single nucleotide variant
(missense variant)
NCOR2-related disorder
GLikely benign
NCOR2
(L2069V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(D2054N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
Single nucleotide variant
(synonymous variant)
NCOR2-related disorder
GBenign
NCOR2
(S2046N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(S2036T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(S2016L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(S2004L +1 more)
Single nucleotide variant
(missense variant)
NCOR2-related disorder
GLikely benign
NCOR2
Single nucleotide variant
(synonymous variant)
NCOR2-related disorder
GLikely benign
NCOR2
(P1998L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(P1996L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(A1994V +1 more)
Single nucleotide variant
(missense variant)
NCOR2-related disorder
GBenign
NCOR2
(P1991S +1 more)
Single nucleotide variant
(missense variant)
NCOR2-related disorder
GBenign
NCOR2
(A1990T +1 more)
Single nucleotide variant
(missense variant)
NCOR2-related disorder
GBenign
NCOR2
(P1995H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(R1993H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(A1982T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(A1989T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(E1967D +1 more)
Single nucleotide variant
(missense variant)
NCOR2-related disorder
GBenign
NCOR2
Single nucleotide variant
(synonymous variant)
NCOR2-related disorder
GLikely benign
NCOR2
(S1960Y +1 more)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
NCOR2
Single nucleotide variant
(synonymous variant)
NCOR2-related disorder
GLikely benign
NCOR2
(R1949Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(R1937Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(R1931W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
Single nucleotide variant
(synonymous variant)
NCOR2-related disorder
GBenign
NCOR2
(G1910D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(G1920S +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NCOR2
(L1908V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
Single nucleotide variant
(synonymous variant)
NCOR2-related disorder
GBenign
NCOR2
Single nucleotide variant
(synonymous variant)
NCOR2-related disorder
+1 more
GBenign
NCOR2
(V1894I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
Single nucleotide variant
(synonymous variant)
NCOR2-related disorder
GBenign
NCOR2
(A1876T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(T1885N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(H1876Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(D1856E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCOR2
(S1850C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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