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Items: 1 to 100 of 140

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAT2, AFDN
+571 more
Copy number gain
See cases
GPathogenic
ACAT2, AFDN
+563 more
Copy number loss
See cases
GPathogenic
LOC129997707, LOC129997708
+548 more
Copy number loss
See cases
GPathogenic
ACAT2, AFDN
+539 more
Copy number loss
See cases
GPathogenic
ACAT2, AFDN
+339 more
Copy number loss
See cases
GPathogenic
C6orf118, C6orf120
+321 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+322 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+299 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+297 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+277 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+254 more
Copy number loss
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GPathogenic
AFDN, AFDN-DT
+247 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+243 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+224 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+203 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+168 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+112 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+87 more
Copy number loss
See cases
GPathogenic
AFDN, C6orf120
+78 more
Copy number loss
See cases
GPathogenic
PHF10, PSMB1
+77 more
Copy number loss
See cases
GPathogenic
AFDN, C6orf120
+77 more
Copy number loss
See cases
GPathogenic
C6orf120, DACT2
+68 more
Copy number loss
See cases
GPathogenic
C6orf120, DLL1
+60 more
Copy number loss
See cases
GPathogenic
C6orf120, DLL1
+60 more
Copy number loss
See cases
GPathogenic
C6orf120, DLL1
+57 more
Copy number loss
See cases
GLikely pathogenic
C6orf120, DLL1
+56 more
Copy number loss
See cases
GPathogenic
C6orf120, DLL1
+54 more
Copy number loss
See cases
GPathogenic
C6orf120, DLL1
+40 more
Copy number loss
See cases
GPathogenic
C6orf120, DLL1
+37 more
Copy number loss
See cases
GPathogenic
C6orf120, DLL1
+34 more
Copy number loss
See cases
GPathogenic
DLL1, FAM120B
+22 more
Copy number loss
See cases
GUncertain significance
DLL1, FAM120B
+17 more
Copy number gain
See cases
GUncertain significance
DLL1, FAM120B
+18 more
Copy number loss
See cases
GLikely pathogenic
DLL1, FAM120B
+18 more
Copy number loss
See cases
GUncertain significance
FAM120B, LOC110121051
+9 more
Duplication
Primary amenorrhea
GUncertain significance
LOC108663996, LOC110121051
+6 more
Copy number gain
See cases
GLikely benign
LOC108663996, LOC126859915
+5 more
Copy number gain
See cases
GUncertain significance
LOC108663996, LOC129997715
+5 more
Copy number gain
See cases
GBenign
LOC108663996, LOC129997715
+5 more
Copy number gain
See cases
GUncertain significance
TBP
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC108663996, TBP
Microsatellite
Spinocerebellar ataxia type 17
+1 more
GPathogenic; risk factor
LOC108663996, TBP
Microsatellite
(inframe_insertion)
not provided
GBenign
LOC108663996, TBP
(Q47R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC108663996, TBP
Deletion
(inframe_deletion)
not provided
GLikely benign
LOC108663996, TBP
(Q95del +1 more)
Deletion
(inframe_deletion)
not provided
+1 more
GBenign
LOC108663996, TBP
(Q52fs +1 more)
Deletion
(frameshift variant)
not specified
GBenign
LOC108663996, TBP
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
LOC108663996, TBP
(Q75del +1 more)
Deletion
(inframe_deletion)
not specified
GBenign
LOC108663996, TBP
(Q55fs +1 more)
Insertion
(frameshift variant)
Spinocerebellar ataxia type 17
GUncertain significance
LOC108663996, TBP
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
LOC108663996, TBP
Microsatellite
(inframe_insertion)
Spinocerebellar ataxia type 17
GPathogenic
LOC108663996, TBP
Microsatellite
(inframe_insertion)
not provided
GLikely benign
LOC108663996, TBP
Microsatellite
(inframe_deletion)
not provided
GBenign
LOC108663996, TBP
Microsatellite
(inframe_deletion)
not provided
GBenign
LOC108663996, TBP
Microsatellite
(inframe_deletion)
not provided
GBenign
TBP, LOC108663996
(Q95del +1 more)
Microsatellite
(inframe_deletion)
not specified
GBenign
TBP, LOC108663996
Microsatellite
(inframe_deletion)
not specified
GBenign
LOC108663996, TBP
Indel
not specified
GUncertain significance
LOC108663996, TBP
Indel
not provided
GUncertain significance
LOC108663996, TBP
Insertion
(inframe_indel)
not provided
+1 more
GBenign/Likely benign
LOC108663996, TBP
(Q77fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GBenign
LOC108663996, TBP
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
LOC108663996, TBP
(Q57fs +1 more)
Deletion
(frameshift variant)
not provided
GLikely benign
LOC108663996, TBP
(Q57fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GBenign/Likely benign
LOC108663996, TBP
(Q57fs +1 more)
Deletion
(frameshift variant)
not specified
GBenign
LOC108663996, TBP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC108663996, TBP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC108663996, TBP
(Q62H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC108663996, TBP
(Q62H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC108663996, TBP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC108663996, TBP
(Q90R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC108663996, TBP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC108663996, TBP
(Q92H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBP
(S105P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBP
(S115L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBP
(A118T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
TBP
(P99T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBP
(P131L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBP
(G114C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBP
(P137L +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 17
GUncertain significance
TBP
Single nucleotide variant
(intron variant)
not provided
GBenign
TBP
(R186H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBP
Single nucleotide variant
(synonymous variant)
TBP-related disorder
GLikely benign
TBP
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TBP
Single nucleotide variant
(intron variant)
not provided
GBenign
TBP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TBP
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAT2, AFDN
+79 more
Copy number loss
See cases
GPathogenic
AFDN, C6orf118
+33 more
Copy number loss
not specified
GPathogenic
DLL1, ERMARD
+4 more
Copy number loss
not specified
GLikely pathogenic
AFDN, C6orf118
+33 more
Copy number loss
not provided
GPathogenic
PDCD2, PSMB1
+1 more
Copy number loss
not provided
GUncertain significance
PSMB1, TBP
Copy number loss
not provided
GUncertain significance
DLL1, FAM120B
+3 more
Copy number loss
not provided
GPathogenic
AFDN, C6orf120
+22 more
Copy number loss
not provided
GPathogenic
AFDN, AGPAT4
+37 more
Copy number loss
not provided
GPathogenic
AFDN, C6orf118
+32 more
Copy number loss
not provided
GPathogenic
PDCD2, SMOC2
+31 more
Copy number loss
not provided
GPathogenic
FAM120B, PDCD2
+2 more
Copy number loss
See cases
GUncertain significance
C6orf120, DACT2
+11 more
Copy number loss
See cases
GPathogenic
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