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Items: 1 to 100 of 127

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001539, LOC130001540
+3785 more
Copy number gain
See cases
GPathogenic
BSPRY, C5
+3784 more
Copy number gain
See cases
GPathogenic
LOC113839508, LOC113839509
+3785 more
Copy number gain
See cases
GPathogenic
FKBP15, FKTN
+3785 more
Copy number gain
See cases
GPathogenic
LOC130001667, LOC130001668
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC116186942, LOC116186943
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC121366033, LOC121366034
+3785 more
Copy number gain
See cases
GPathogenic
LOC130002218, LOC130002219
+994 more
Copy number gain
See cases
GPathogenic
LOC126860732, LOC126860733
+514 more
Copy number loss
See cases
GPathogenic
ABCA1, ABITRAM
+514 more
Copy number loss
See cases
GPathogenic
CT70, CTNNAL1
+509 more
Copy number loss
See cases
GPathogenic
PALM2AKAP2, PAPPA
+377 more
Copy number loss
See cases
GPathogenic
RGS3
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
RGS3
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
RGS3
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
RGS3
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
RGS3
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
RGS3
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
RGS3
(I33V +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RGS3
(G49V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(G51D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(P62L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(K63T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(V81I +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RGS3
(L133F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(R153W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(R162W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(R173W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(P168L +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RGS3
(G179S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(F199S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(D206N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(P219T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(I257F +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(M265V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(Q274P +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(R302Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(K127R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(H131L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(Q139E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(S320N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(G337E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(G346D +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(A344T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(S346P +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(T360P +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RGS3
(S217N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(G395V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RGS3
(P455T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(R325C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(V505I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(A530V +3 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RGS3
(S552L +3 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RGS3
(P600A +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(E54G +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(D633N +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(D641G +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(P478L +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
RGS3
(P105L +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(Q113H +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(D706Y +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(S713F +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(K166R +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(S554G +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(S554N +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(G158R +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(T731S +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(P168S +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
RGS3
(V194M +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(D183A +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(E207K +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(V209G +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
RGS3
(G212W +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(D620A +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(G229R +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(Q262R +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(Q273K +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(S655L +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(L276V +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(R259W +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(R827C +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
RGS3
(D855G +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(S286L +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(A858T +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
RGS3
(S293F +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(T302S +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(G326S +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(L717F +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(R723S +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(M399I +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(N419S +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RGS3
(A20T +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(K943T +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(A388V +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RGS3
(E393K +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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