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Items: 62

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AADAT, ABCE1
+1310 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+1245 more
Copy number gain
See cases
GPathogenic
LOC126807210, LOC126807211
+1102 more
Copy number gain
See cases
GPathogenic
LOC126807213, LOC126807214
+1068 more
Copy number gain
See cases
GPathogenic
LOC132089068, LOC132089069
+1051 more
Copy number gain
See cases
GPathogenic
LOC126807202, LOC126807203
+1026 more
Copy number gain
See cases
GPathogenic
LOC129993194, LOC129993195
+903 more
Copy number gain
See cases
GPathogenic
LOC123493228, LOC123493229
+481 more
Copy number gain
See cases
GPathogenic
ARFIP1, ASIC5
+210 more
Copy number loss
See cases
GLikely pathogenic
ASIC5, CTSO
+45 more
Copy number loss
not provided
GUncertain significance
AADAT, ANP32C
+243 more
Copy number loss
See cases
GPathogenic
ASIC5, CTSO
+6 more
Copy number loss
See cases
GUncertain significance
TDO2
(S2T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TDO2
(Q58K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TDO2
(H101R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TDO2
(M108I)
Single nucleotide variant
(missense variant)
Familial hypertryptophanemia
GPathogenic
TDO2
(R114Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TDO2
(S119P)
Single nucleotide variant
(missense variant)
not provided
GBenign
TDO2
(A137V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TDO2
(G152S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TDO2
(I165fs)
Duplication
(frameshift variant)
Familial hypertryptophanemia
GPathogenic
TDO2
(L168P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TDO2
(G186E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TDO2
(T212I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TDO2
(P213L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TDO2
Single nucleotide variant
(synonymous variant)
TDO2-related disorder
GLikely benign
TDO2
(N229H)
Single nucleotide variant
(missense variant)
TDO2-related disorder
GBenign
TDO2
(Q242P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TDO2
(F268Y)
Single nucleotide variant
(missense variant)
TDO2-related disorder
GLikely benign
TDO2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TDO2
(P307S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TDO2
(L320R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TDO2
(D364H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TDO2
(M381L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TDO2
(T391I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TDO2
Single nucleotide variant
(synonymous variant)
TDO2-related disorder
GLikely benign
FAM149A, FAM218A
+197 more
Copy number gain
not specified
GPathogenic
AADAT, ABCE1
+286 more
Copy number gain
not specified
GPathogenic
SPATA18, SPATA4
+537 more
Copy number gain
not provided
GPathogenic
PLK4, TRPC3
+153 more
Copy number gain
not provided
GPathogenic
ASIC5, CTSO
+3 more
Copy number loss
not provided
GUncertain significance
ASIC5, CTSO
+3 more
Copy number loss
not specified
GUncertain significance
ETFDH, FAM218A
+108 more
Copy number gain
not provided
GPathogenic
GRIA2, GUCY1B1
+6 more
Copy number loss
not provided
GUncertain significance
PLRG1, CTSO
+24 more
Copy number loss
not provided
GLikely pathogenic
AADAT, ABCE1
+163 more
Copy number gain
not provided
GPathogenic
ASIC5, CTSO
+3 more
Copy number loss
not provided
GUncertain significance
AADAT, ACSL1
+131 more
Copy number gain
not provided
GPathogenic
ASIC5, CTSO
+15 more
Copy number loss
not provided
GUncertain significance
ASIC5, GUCY1A1
+2 more
Copy number gain
not provided
GUncertain significance
MAP9, LRAT
+15 more
Copy number loss
not provided
GLikely pathogenic
AADAT, ACSL1
+102 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+314 more
Copy number gain
See cases
GPathogenic
ARFIP1, ASIC5
+36 more
Copy number loss
See cases
GPathogenic
LRBA, LRIT3
+255 more
Copy number gain
See cases
GPathogenic
C4orf51, CABS1
+745 more
Copy number gain
See cases
GPathogenic
NAA11, NAA15
+745 more
Copy number gain
See cases
GPathogenic
AADAT, ACSL1
+118 more
Copy number gain
See cases
GPathogenic
HELT, HERC3
+744 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+218 more
Copy number gain
See cases
GPathogenic
USP38, WWC2
+142 more
Copy number gain
See cases
GPathogenic
ASIC5, CTSO
+1 more
Copy number gain
Abnormal esophagus morphology
GLikely benign
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