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Items: 68

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ADCY10
+775 more
Copy number gain
See cases
GPathogenic
ADCY10, ALDH9A1
+406 more
Copy number loss
See cases
GPathogenic
LOC129388624, LOC129388625
+407 more
Copy number loss
See cases
GPathogenic
FAM163A, FAM20B
+482 more
Copy number gain
See cases
GPathogenic
ADCY10, ANKRD45
+332 more
Copy number loss
See cases
GPathogenic
ANKRD45, ATP1B1
+232 more
Copy number loss
See cases
GPathogenic
ANKRD45, ASTN1
+239 more
Copy number loss
See cases
GPathogenic
MYOC, MYOCOS
+540 more
Copy number loss
See cases
GPathogenic
LOC129932082, LOC129932083
+561 more
Copy number loss
See cases
GPathogenic
ABL2, ACBD6
+513 more
Copy number gain
See cases
GPathogenic
FMO2
(K19N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FMO2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
FMO2
(E48K)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
FMO2
(R51Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
FMO2
Deletion
(5 prime UTR variant +1 more)
not specified
GBenign
FMO2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
FMO2
(G133S +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
FMO2
(K134M +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
FMO2
(F160S +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
FMO2
(F101S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
FMO2
(S108G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FMO2
(R174H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
FMO2
(G126R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FMO2
(V145A +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
FMO2
(R175H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FMO2
(M22V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FMO2
(V181A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FMO2
(V283E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FMO2
(R71P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FMO2
(K239E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FMO2
(D103N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FMO2
(F107L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FMO2
(F333C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FMO2
(L338F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FMO2
(M129V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FMO2
(A147T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FMO2
(A367V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FMO2
(G156D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FMO2
(E318G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FMO2
(V392G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FMO2
(E182K +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
FMO2
(I344T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FMO2
(I197N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FMO2
(F355L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FMO2
(L439F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FMO2
(A220T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FMO2
(L452P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FMO2
(V241M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FMO2
(Q407* +2 more)
Single nucleotide variant
(nonsense)
not provided
GBenign
FMO2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FMO2
(C310fs +2 more)
Duplication
(frameshift variant)
not provided
GBenign
C1orf105, DNM3
+17 more
Copy number loss
not provided
GLikely pathogenic
ABL2, ACBD6
+123 more
Copy number loss
not specified
GPathogenic
ADCY10, ALDH9A1
+81 more
Copy number loss
not provided
GPathogenic
METTL13, MIR199A2
+68 more
Copy number loss
not specified
GPathogenic
ADCY10, ATP1B1
+39 more
Copy number loss
not specified
GPathogenic
ADCY10, ALDH9A1
+62 more
Copy number loss
not specified
GPathogenic
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
FMO4, FMO2
+2 more
Copy number loss
not provided
GUncertain significance
METTL13, METTL18
+60 more
Copy number loss
not provided
GPathogenic
FMO1, FMO2
+4 more
Copy number gain
not provided
GUncertain significance
ADCY10, ALDH9A1
+137 more
Copy number loss
not provided
GPathogenic
ABL2, ACBD6
+70 more
Copy number gain
not provided
GPathogenic
ANKRD45, ATP1B1
+51 more
Deletion
1q24q25 microdeletion syndrome
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
SUCO, TADA1
+147 more
Copy number loss
See cases
GPathogenic
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