U.S. flag

An official website of the United States government

Display optionsSort by LocationDownload
Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 104

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NUP98
(V1723I +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(R1793Q +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(R1785C +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(M1773V +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(R1772Q +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(R1791Q +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
NUP98
(R1665C +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(N1662S +6 more)
Single nucleotide variant
(missense variant +1 more)
Hirschsprung disease, susceptibility to, 1
GLikely pathogenic
NUP98
(R1716H +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
NUP98
(Q1653H +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(R1638W +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(H1629N +7 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NUP98
(H1671R +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
NUP98
(V1682A +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(R1634G +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(S1598P +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GBenign
NUP98
(D1601N +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(R1618Q +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
NUP98
(M1535V +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(R1497Q +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(V1543I +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NUP98
(N1473S +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NUP98
(C1442Y +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
NUP98
(A1445V +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
NUP98
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NUP98
(V1418M +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(R1333H +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(Q1406P +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NUP98
(T1251A +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
NUP98
(R1244C +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(D1223E +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(H1234Q +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(A1121T +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(P1197L +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(H1105P +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(N1104K +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(N1104D +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(A1090S +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(M1075V +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(L1098W +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(Y1062C +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(P1075L +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(P1056S +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(S1067F +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(S1011F +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(R1005H +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(A1071T +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
NUP98
(R1025C +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(S1022L +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
NUP98
(S1013L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(S994P +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(Q1007P +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(Q1007E +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(R978C +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(I993V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(A947S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(I916T +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(P948A +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(E913K +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(A921V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(P853S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NUP98
Single nucleotide variant
(synonymous variant +1 more)
Aganglionic megacolon
GUncertain significance
NUP98
(P871L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(S844A +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(P843R +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(I812V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(E714K +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(I727V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(N738S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(A717V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(H664N +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(S692F +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(I705T +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(L681P +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(R669C +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
NUP98
(L627F +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(N616T +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(N642S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(I599V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(T635S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(T626A +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(D625E +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(P606A +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(D552G +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(G413A +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(T386A)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NUP98
(T335A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(T305A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NUP98
(A283T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
NUP98
(G262V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NUP98
(N211K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(I162V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(A156V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP98
(T115A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
Display optionsSort by LocationDownload
Format
Items per page
Sort by
Choose Destination