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Items: 1 to 100 of 241

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057927, LOC130057928
+1764 more
Copy number gain
See cases
GPathogenic
ACSBG1, ADPGK
+487 more
Copy number loss
See cases
GPathogenic
LOC116268473, LOC116268474
+1244 more
Copy number gain
See cases
GPathogenic
MIR6882, MPI
+258 more
Duplication
Schizophrenia
GLikely pathogenic
LOC130057730, LOC132090332
+175 more
Copy number loss
See cases
GPathogenic
SCAPER
(K1400N +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(L1261S +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(Q1392K +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
GUncertain significance
SCAPER
(P1228A +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(Q1353H +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(S1206T +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(H1083P +4 more)
Single nucleotide variant
(missense variant +1 more)
SCAPER-related disorder
GUncertain significance
SCAPER
(N1082H +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(A1078fs +4 more)
Deletion
(frameshift variant +1 more)
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
GUncertain significance
SCAPER
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SCAPER
(S1074P +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(S1063I +4 more)
Single nucleotide variant
(missense variant +1 more)
SCAPER-related disorder
GUncertain significance
SCAPER
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SCAPER
(R1046H +4 more)
Single nucleotide variant
(missense variant +1 more)
SCAPER-related disorder
GUncertain significance
SCAPER
(R1046C +4 more)
Single nucleotide variant
(missense variant +1 more)
SCAPER-related disorder
GUncertain significance
SCAPER
Single nucleotide variant
(synonymous variant +1 more)
SCAPER-related disorder
GLikely benign
SCAPER
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SCAPER
(P1036T +4 more)
Single nucleotide variant
(missense variant +1 more)
SCAPER-related disorder
GLikely benign
SCAPER
(N1152S +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(G1275A +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(C1027Y +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(I1143V +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SCAPER
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
SCAPER
(S1108fs +4 more)
Deletion
(frameshift variant +1 more)
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
GLikely pathogenic
SCAPER
Single nucleotide variant
(intron variant)
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
+1 more
GBenign
SCAPER
(S1219N +4 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
+2 more
GPathogenic/Likely pathogenic
SCAPER
(I971T +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SCAPER
(I1219V +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
SCAPER
(N1083S +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(E1072K +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
SCAPER
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
SCAPER
Single nucleotide variant
(synonymous variant +1 more)
SCAPER-related disorder
GLikely benign
SCAPER
(T1184A +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(Q1166E +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
SCAPER
(S1025N +4 more)
Single nucleotide variant
(missense variant +1 more)
SCAPER-related disorder
GUncertain significance
SCAPER
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
SCAPER
Single nucleotide variant
(synonymous variant +1 more)
SCAPER-related disorder
GLikely benign
SCAPER
(T1014I +4 more)
Single nucleotide variant
(missense variant +1 more)
SCAPER-related disorder
GUncertain significance
SCAPER
(H1010R +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
SCAPER
(A894T +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
SCAPER
(K1114T +4 more)
Single nucleotide variant
(missense variant +1 more)
SCAPER-related disorder
GLikely benign
SCAPER
(M1109I +4 more)
Single nucleotide variant
(missense variant +1 more)
SCAPER-related disorder
GUncertain significance
SCAPER
(V1106M +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SCAPER
Single nucleotide variant
(intron variant)
not provided
GBenign
SCAPER
Single nucleotide variant
(intron variant)
not provided
GBenign
SCAPER
Insertion
(intron variant)
Schizophrenia
GUncertain significance
LOC126862183, SCAPER
(S1104N +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC126862183, SCAPER
(R1098Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 1
GUncertain significance
LOC126862183, SCAPER
(N969S +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
LOC126862183, SCAPER
(G1092S +4 more)
Single nucleotide variant
(missense variant +1 more)
SCAPER-related disorder
GUncertain significance
LOC126862183, SCAPER
(S1090fs +4 more)
Duplication
(frameshift variant +1 more)
SCAPER-related disorder
GLikely pathogenic
LOC126862183, SCAPER
(P1089T +4 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
+1 more
GBenign
LOC126862183, SCAPER
(P953L +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC126862183, SCAPER
(P829fs +4 more)
Deletion
(frameshift variant +1 more)
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
GLikely pathogenic
LOC126862183, SCAPER
(R1068Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC126862183, SCAPER
(N1067S +4 more)
Single nucleotide variant
(missense variant +1 more)
SCAPER-related disorder
GLikely benign
LOC126862183, SCAPER
(V1060I +4 more)
Single nucleotide variant
(missense variant +1 more)
SCAPER-related disorder
GUncertain significance
LOC126862183, SCAPER
(S1057N +4 more)
Single nucleotide variant
(missense variant +1 more)
SCAPER-related disorder
GUncertain significance
LOC126862183, SCAPER
(G1048V +4 more)
Single nucleotide variant
(missense variant +1 more)
SCAPER-related disorder
GUncertain significance
LOC126862183, SCAPER
(G792E +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC126862183, SCAPER
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC126862183, SCAPER
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SCAPER
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SCAPER
(T892M +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(I1022T +4 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
GUncertain significance
SCAPER
Single nucleotide variant
(synonymous variant +1 more)
SCAPER-related disorder
GLikely benign
SCAPER
(V762I +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(N1005S +4 more)
Single nucleotide variant
(missense variant +1 more)
SCAPER-related disorder
GUncertain significance
SCAPER
(I745fs +4 more)
Microsatellite
(frameshift variant +1 more)
Attention deficit hyperactivity disorder
+2 more
GPathogenic
SCAPER
(N992S +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SCAPER
(N855S +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(C742fs +4 more)
Microsatellite
(frameshift variant +1 more)
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
GLikely pathogenic
SCAPER
Single nucleotide variant
(splice acceptor variant)
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
GLikely pathogenic
SCAPER
(I736V +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(V724I +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(A703V +4 more)
Single nucleotide variant
(missense variant +1 more)
SCAPER-related disorder
GUncertain significance
SCAPER
Single nucleotide variant
(intron variant)
SCAPER-related disorder
GLikely benign
SCAPER
Deletion
(nonsense +1 more)
Obesity
+5 more
GPathogenic
SCAPER
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SCAPER
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SCAPER
Single nucleotide variant
(intron variant)
SCAPER-related disorder
GLikely benign
SCAPER
(Y758F +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GBenign/Likely benign
SCAPER
(E757fs +4 more)
Deletion
(frameshift variant +1 more)
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
GLikely pathogenic
SCAPER
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SCAPER
Single nucleotide variant
(synonymous variant +1 more)
SCAPER-related disorder
GLikely benign
SCAPER
(R619G +4 more)
Single nucleotide variant
(missense variant +1 more)
SCAPER-related disorder
GUncertain significance
SCAPER
(R871W +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(D615V +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(T859R +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(S846P +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SCAPER
Single nucleotide variant
(synonymous variant +1 more)
SCAPER-related disorder
GBenign
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