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Items: 1 to 100 of 110

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063041, LOC130063042
+687 more
Copy number gain
See cases
GPathogenic
LOC130062978, LOC130062979
+903 more
Copy number gain
See cases
GPathogenic
LOC130063254, LOC130063255
+810 more
Copy number gain
See cases
GPathogenic
ANKRD24, APBA3
+223 more
Copy number gain
See cases
GLikely pathogenic
LOC121852974, LOC125371451
+193 more
Copy number loss
See cases
GPathogenic
PIP5K1C, PLIN4
+142 more
Copy number loss
See cases
GPathogenic
ANKRD24, ARRDC5
+150 more
Copy number loss
See cases
GLikely pathogenic
ANKRD24, ARRDC5
+145 more
Copy number gain
See cases
GUncertain significance
ANKRD24, CHAF1A
+99 more
Copy number gain
See cases
GPathogenic
CHAF1A, DPP9
+33 more
Copy number loss
See cases
GUncertain significance
DPP9, DPP9-AS1
(Q851* +7 more)
Single nucleotide variant
(nonsense +2 more)
Hatipoglu immunodeficiency syndrome
GPathogenic
DPP9, DPP9-AS1
(L832F +7 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DPP9, DPP9-AS1
(G780S +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9, DPP9-AS1
(V722I +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9, DPP9-AS1
(V778I +7 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
DPP9, DPP9-AS1
(F740L +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9, DPP9-AS1
(M646I +6 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Susceptibility to severe COVID-19
GLikely pathogenic
DPP9, DPP9-AS1
(D678N +6 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
DPP9, DPP9-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
DPP9, DPP9-AS1
(G662S +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
DPP9, DPP9-AS1
(K655E +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
DPP9, DPP9-AS1
(A579T +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
DPP9, DPP9-AS1
(R569W +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
DPP9, DPP9-AS1
(R565C +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
DPP9, DPP9-AS1
(P551L +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DPP9
(R539S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9
(D532N +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9
(D610E +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
DPP9
(H522Y +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9
(V590M +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9
(V566M +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9
(M568V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9
(S498C +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9
(R540H +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9
(E566K)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign/Likely benign
DPP9
(G485S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9
(V531G +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DPP9
(K498R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9, LOC126862840
(D467N +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DPP9, LOC126862840
(T407A +3 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
DPP9, LOC126862840
(K477N +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DPP9, LOC126862840
(E438Q +3 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
DPP9, LOC126862840
(H424L +3 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
DPP9
(E391Q +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
DPP9
(T419I +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DPP9
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
DPP9
(V397I +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DPP9
(M385V +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DPP9
(R377Q +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DPP9
(A373S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9
(R333W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9
(T329M)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
DPP9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
DPP9
(D281N +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
DPP9
(E297Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9
(T272M +2 more)
Single nucleotide variant
(missense variant +1 more)
Hatipoglu immunodeficiency syndrome
+1 more
GUncertain significance
DPP9
(V263I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9, LOC126862841
(Q227K +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
DPP9, LOC126862841
(F224Y +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DPP9, LOC126862841
(R220Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
DPP9, LOC126862841
(R220W +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DPP9, LOC126862841
(E215K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9, LOC126862841
(S236N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
DPP9, LOC126862841
(G186A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9, LOC126862841
(S214* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hatipoglu immunodeficiency syndrome
GConflicting classifications of pathogenicity
DPP9, LOC126862841
(G166S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9, LOC126862841
(G166C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9, LOC126862841
(G194S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9, LOC126862841
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
DPP9, LOC126862841
(R163L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9, LOC126862841
(A184G)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
DPP9, LOC126862841
(E147K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9, LOC126862841
(D143N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9, LOC126862841
(G167S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hatipoglu immunodeficiency syndrome
GConflicting classifications of pathogenicity
DPP9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DPP9
(R111* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hatipoglu immunodeficiency syndrome
GPathogenic
DPP9
(Y79H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9, LOC126862842
(R71H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9, LOC126862842
(H70Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9, LOC126862842
(P67S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9, LOC126862842
(S65Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9, LOC126862842
(Q86R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9, LOC126862842
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
DPP9, LOC126862842
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DPP9, LOC126862842
(A52V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9, LOC126862842
(S45L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9, LOC126862842
(R71C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9, LOC126862842
(S30L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9, LOC126862842
(K57N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9, LOC126862842
(A14T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
LOC126862842, DPP9
(T37M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9, LOC126862842
(T33I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPP9, LOC126862842
(A27S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DPP9, LOC126862842
(S21L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DPP9, LOC126862842
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DPP9
(R8C)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DPP9
(R2Q)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ANKRD24, ATCAY
+27 more
Duplication
not provided
GUncertain significance
CHAF1A, DPP9
+11 more
Copy number loss
not specified
GUncertain significance
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