U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 158

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057816, LOC130057817
+1763 more
Copy number gain
See cases
GPathogenic
LOC121530589, LOC121530590
+487 more
Copy number loss
See cases
GPathogenic
ABHD17C, ABHD2
+1244 more
Copy number gain
See cases
GPathogenic
ARID3B, C15orf39
+258 more
Duplication
Schizophrenia
GLikely pathogenic
ACSBG1, ADAMTS7
+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
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
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SCAPER
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SCAPER
Single nucleotide variant
(synonymous variant +1 more)
not provided
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
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
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
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
SCAPER
(H1010R +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(A894T +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
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
(S1090fs +4 more)
Duplication
(frameshift variant +1 more)
SCAPER-related condition
GLikely pathogenic
LOC126862183, SCAPER
(P1089T +4 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
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
(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)
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
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
(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
(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
(V724I +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
Deletion
(nonsense +1 more)
Pigmentary retinopathy
+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
(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)
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
GBenign
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)
not provided
GBenign
SCAPER
(H570fs +4 more)
Duplication
(frameshift variant +1 more)
SCAPER-related condition
GLikely pathogenic
SCAPER
(R814fs +4 more)
Deletion
(frameshift variant +1 more)
Inborn genetic diseases
GPathogenic
SCAPER
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SCAPER
(N804S +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(Q547* +4 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
SCAPER
(T540I +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/Likely benign
SCAPER
(R636K +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
(I754F +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(I612fs +4 more)
Duplication
(frameshift variant +1 more)
not provided
GPathogenic
SCAPER
(R481* +4 more)
Single nucleotide variant
(nonsense +1 more)
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
GLikely pathogenic
SCAPER
Single nucleotide variant
(intron variant)
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
GLikely pathogenic
SCAPER
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SCAPER
Single nucleotide variant
(splice acceptor variant)
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
+2 more
GPathogenic
SCAPER
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SCAPER
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SCAPER
(F382S +4 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
GUncertain significance
SCAPER
Duplication
(intron variant)
not provided
GLikely benign
SCAPER
(E620del +4 more)
Microsatellite
(inframe_deletion +1 more)
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
+2 more
GPathogenic/Likely pathogenic
SCAPER
(V333F +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/Likely benign
SCAPER
(A547S +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
Single nucleotide variant
(splice donor variant)
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
GLikely pathogenic
SCAPER
(S232G +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(D215V +4 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
GUncertain significance
SCAPER
(A210T +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(K306E +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(A291G +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(S171F +4 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
GUncertain significance
SCAPER
(A266V +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(A252D +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCAPER
(V127fs +2 more)
Deletion
(frameshift variant +1 more)
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
GLikely pathogenic
SCAPER
(R227* +2 more)
Single nucleotide variant
(nonsense +1 more)
Intellectual developmental disorder and retinitis pigmentosa; IDDRP
GLikely pathogenic
Format
Items per page
Sort by
Choose Destination