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Items: 1 to 100 of 101

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PROSER2-AS1, PRPF18
+680 more
Copy number loss
See cases
GPathogenic
MIR5699, MIR6072
+496 more
Copy number gain
See cases
GPathogenic
ADARB2, ADARB2-AS1
+276 more
Copy number loss
See cases
GPathogenic
LOC126860819, LOC126860820
+680 more
Copy number gain
See cases
GPathogenic
LOC130003277, LOC130003278
+520 more
Copy number loss
See cases
GPathogenic
LOC132090805, MANCR
+482 more
Copy number gain
See cases
GPathogenic
ACBD7, ACBD7-DCLRE1CP1
+837 more
Copy number gain
See cases
GPathogenic
LOC130003153, LOC130003154
+421 more
Copy number gain
See cases
GPathogenic
ADARB2, ADARB2-AS1
+298 more
Copy number gain
See cases
GPathogenic
ADARB2, ADARB2-AS1
+352 more
Copy number gain
See cases
GPathogenic
ADARB2, AKR1C1
+304 more
Copy number gain
See cases
GLikely pathogenic
LOC130003188, LOC130003189
+195 more
Duplication
Schizophrenia
GLikely pathogenic
ABI1, ACBD5
+1221 more
Copy number gain
See cases
GBenign
AKR1C1, AKR1C2
+175 more
Copy number loss
See cases
GUncertain significance
LOC130003217, LOC130003218
+482 more
Copy number loss
See cases
GPathogenic
FBH1
(G27E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBH1
(G30S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBH1
(G30D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBH1
(C36Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBH1
(H49Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBH1
(R6Q +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
FBH1
(C14Y +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
FBH1
(G101R +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
FBH1
(G104V +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
FBH1
(G53D +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
FBH1
(S107N +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
FBH1
(P121L +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
FBH1
(C122G +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
FBH1
(Q31L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(G36R +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FBH1
(P37L +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FBH1
(S127A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(T137S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(R139W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(K197R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(E167G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(S220N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(R172W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(L224P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(G178C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(Q108R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(P117S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(P117A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(L227F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(T348A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(S231N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(A400V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(V358L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(V431I +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FBH1
(I401V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(Q348R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(E505Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(L382P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(Y449D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(F489Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1, LOC126860848
(R604H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(N658S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(F595L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(F739L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(V695I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(Y697H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(R754W +2 more)
Single nucleotide variant
(missense variant)
Malignant tumor of prostate
GUncertain significance
FBH1
(R749Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(I713V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(Q718H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(F808C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(S819G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(A753T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(A827V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(E829K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(R897K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(I919V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(R839W +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(R1013C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1
(C1015Y +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBH1, LOC105376384
(A1003V +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
FBH1, LOC105376384
(R947C +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
FBH1, LOC105376384
(R947H +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
FBH1, LOC105376384
(T952P +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
FBH1, LOC105376384
(N955Y +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
FBH1, LOC105376384
(V1042I +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
FBH1, IL15RA
+1 more
Duplication
Immunodeficiency due to CD25 deficiency
GUncertain significance
ADARB2, AKR1C1
+35 more
Copy number gain
See cases
GUncertain significance
FBH1, IL15RA
+3 more
Copy number gain
not specified
GUncertain significance
CDC123, CELF2
+47 more
Copy number gain
not provided
GUncertain significance
FBH1, IL15RA
+4 more
Copy number gain
not specified
GUncertain significance
AKR1C1, AKR1C2
+29 more
Copy number gain
not specified
GUncertain significance
AKR1C1, AKR1C2
+18 more
Copy number gain
not provided
GUncertain significance
ARL5B, LARP4B
+180 more
Copy number gain
Mosaic supernumerary isodicentric chromosome 10
Gnot provided
AKR1C1, AKR1C2
+30 more
Deletion
not provided
GPathogenic
ACBD7, ADARB2
+68 more
Copy number gain
not provided
GPathogenic
WDR37, ZMYND11
+68 more
Copy number gain
not provided
GPathogenic
ANKRD16, ASB13
+5 more
Copy number gain
not provided
GUncertain significance
ITIH2, ITIH5
+72 more
Deletion
Hypoparathyroidism, deafness, renal disease syndrome
GPathogenic
ABI1, ACBD5
+205 more
Copy number gain
See cases
GPathogenic
ADARB2, AKR1C1
+47 more
Copy number loss
See cases
GPathogenic
INA, INPP5A
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+721 more
Copy number gain
See cases
GPathogenic
ADARB2, AKR1C1
+37 more
Copy number loss
See cases
GPathogenic
A1CF, ABCC2
+722 more
Copy number gain
See cases
GPathogenic
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