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Items: 89

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
LOC613266, MACROD2
+950 more
Copy number gain
See cases
GPathogenic
AAR2, ACOT8
+568 more
Copy number loss
See cases
GPathogenic
RALGAPB
(Q13E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(K84R)
Single nucleotide variant
(missense variant)
RALGAPB-related disorder
GUncertain significance
RALGAPB
(R153C)
Single nucleotide variant
(missense variant)
Marfanoid habitus and intellectual disability
GUncertain significance
RALGAPB
(R153H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(R160Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(T182A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
Single nucleotide variant
(intron variant)
RALGAPB-related disorder
GBenign
RALGAPB
(T208S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(A243G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(R250C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(P271A)
Single nucleotide variant
(missense variant)
RALGAPB-related disorder
GUncertain significance
RALGAPB
(N276H)
Single nucleotide variant
(missense variant)
RALGAPB-related disorder
GBenign
RALGAPB
(M289V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(V365M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(P381Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(R384Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(A394T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(H405Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(S420P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
Single nucleotide variant
(synonymous variant)
RALGAPB-related disorder
GBenign
RALGAPB
(R436G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(H458Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(T491A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(C517G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(I533L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(Y554C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(F585L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(R611Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RALGAPB
(K640E)
Single nucleotide variant
(missense variant)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
RALGAPB
(L696S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(T730M)
Single nucleotide variant
(missense variant)
RALGAPB-related disorder
GBenign
RALGAPB
(V762I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(R775L +1 more)
Single nucleotide variant
(missense variant)
Septo-optic dysplasia sequence
GLikely pathogenic
RALGAPB
(Q772R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(R799Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
Single nucleotide variant
(synonymous variant)
RALGAPB-related disorder
GBenign
RALGAPB
(N872S +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RALGAPB
(G907D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(P910S +1 more)
Single nucleotide variant
(missense variant)
Developmental disorder
GLikely benign
RALGAPB
(T926A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(A953V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RALGAPB
(M954V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(L955P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(Q985E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
Single nucleotide variant
(synonymous variant)
RALGAPB-related disorder
GBenign
RALGAPB
(G1018A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(S1022A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(P1023A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(A1063T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(R1083I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(R1109H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(L1119R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(E1121K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(R1126C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(D1143Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(Y1147C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(Q1172H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(V1182A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(H1187Y +1 more)
Single nucleotide variant
(missense variant)
RALGAPB-related disorder
GBenign
RALGAPB
(E1230V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(S1233P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(N1279D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
Single nucleotide variant
(synonymous variant)
RALGAPB-related disorder
GBenign
RALGAPB
(M1286V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(P1290L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(P1304R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RALGAPB
(P1318L +1 more)
Single nucleotide variant
(missense variant)
RALGAPB-related disorder
GBenign
RALGAPB
(P1333S +1 more)
Single nucleotide variant
(missense variant)
RALGAPB-related disorder
GBenign
RALGAPB
(R1347H +1 more)
Single nucleotide variant
(missense variant)
RALGAPB-related disorder
GLikely benign
RALGAPB
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RALGAPB
(S1367T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
Single nucleotide variant
(splice donor variant)
Intellectual disability
GPathogenic
RALGAPB
(S1382A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(M1412V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(I1414L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(L1419F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(R1425P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(A1429V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
Microsatellite
(intron variant)
RALGAPB-related disorder
GLikely benign
RALGAPB
Single nucleotide variant
(synonymous variant)
RALGAPB-related disorder
GBenign
RALGAPB
(C1492R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RALGAPB
(S1491Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTR5, ADIG
+6 more
Duplication
not provided
GUncertain significance
ACOT8, ACTR5
+124 more
Deletion
Focal-onset seizure
GLikely pathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
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