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Items: 50

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129996876, LOC129996877
+1449 more
Copy number gain
See cases
GPathogenic
AFG1L, AK9
+558 more
Copy number loss
See cases
GPathogenic
ASCC3, CCNC
+68 more
Copy number loss
See cases
GPathogenic
ASCC3, CCNC
+53 more
Copy number loss
See cases
GPathogenic
CCNC, COQ3
+38 more
Copy number loss
See cases
GUncertain significance
POU3F2
(G32V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POU3F2
(G46A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POU3F2
(G52R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POU3F2
(S56R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POU3F2
(Q60P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POU3F2
(G80fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
POU3F2
(G87D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POU3F2
(G90S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POU3F2
(P92S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129996863, POU3F2
Duplication
POU3F2-related disorder
GLikely benign
LOC129996863, POU3F2
(Q130H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129996863, POU3F2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129996863, POU3F2
(Q134K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POU3F2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POU3F2
Single nucleotide variant
(synonymous variant)
POU3F2-related disorder
GLikely benign
POU3F2
(S184P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POU3F2
(L210M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POU3F2
(G214S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POU3F2
Single nucleotide variant
(synonymous variant)
POU3F2-related disorder
GLikely benign
POU3F2
Microsatellite
POU3F2-related disorder
GLikely benign
POU3F2
(P241L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POU3F2
(P249L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POU3F2
(E271V)
Single nucleotide variant
(missense variant)
POU3F2-associated disorder
GLikely pathogenic
POU3F2
(I308F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POU3F2
(R310S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POU3F2
(L391F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POU3F2
(Q443K)
Single nucleotide variant
(missense variant)
POU3F2-related disorder
GUncertain significance
ASCC3, CCNC
+20 more
Copy number gain
not specified
GUncertain significance
AFG1L, ARMC2
+43 more
Copy number loss
not provided
GPathogenic
ASCC3, BVES
+21 more
Copy number loss
not provided
GPathogenic
ASCC3, BVES
+22 more
Copy number loss
not provided
GPathogenic
COQ3, FAXC
+4 more
Copy number loss
not provided
GLikely pathogenic
ASCC3, CCNC
+20 more
Copy number loss
not specified
GPathogenic
AFG1L, AK9
+98 more
Copy number loss
not specified
GPathogenic
AFG1L, AK9
+138 more
Copy number loss
not specified
GPathogenic
PREP, QRSL1
+66 more
Copy number loss
Deletion 6q16 q21
GPathogenic
FAXC, FBXL4
+1 more
Copy number loss
not provided
GUncertain significance
CCNC, COQ3
+7 more
Copy number loss
not provided
GLikely pathogenic
FAXC, FBXL4
+7 more
Copy number loss
not provided
GUncertain significance
POU3F2, FBXL4
Copy number loss
not provided
GUncertain significance
AFG1L, AK9
+80 more
Copy number loss
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
ZBTB24, AFG1L
+49 more
Copy number loss
See cases
GPathogenic
AFG1L, AK9
+44 more
Copy number loss
See cases
GPathogenic
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