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Items: 86

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130055392, LOC130055393
+780 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+814 more
Copy number gain
See cases
GPathogenic
TRDC, TRDD1
+859 more
Copy number gain
See cases
GPathogenic
LOC126861920, LOC126861921
+3280 more
Copy number gain
See cases
GPathogenic
GSC, GSC-DT
+3275 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+399 more
Copy number gain
See cases
GPathogenic
LOC130055370, LOC130055371
+840 more
Copy number loss
See cases
GPathogenic
ABHD4, ACIN1
+529 more
Copy number gain
See cases
GLikely pathogenic
AP1G2, AP1G2-AS1
+45 more
Copy number gain
See cases
GUncertain significance
BCL2L2-PABPN1, PABPN1
Duplication
(intron variant)
not provided
GBenign
BCL2L2-PABPN1, PABPN1
Duplication
(intron variant)
not provided
GBenign
BCL2L2-PABPN1, PABPN1
Single nucleotide variant
(intron variant)
not provided
GBenign
BCL2L2-PABPN1, PABPN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BCL2L2-PABPN1, PABPN1
Single nucleotide variant
(5 prime UTR variant +1 more)
Oculopharyngeal muscular dystrophy
GUncertain significance
BCL2L2-PABPN1, PABPN1
Microsatellite
(inframe_insertion +2 more)
not provided
+1 more
GPathogenic
BCL2L2-PABPN1, PABPN1
Microsatellite
(inframe_insertion +2 more)
not specified
+1 more
GConflicting classifications of pathogenicity
BCL2L2-PABPN1, PABPN1
Microsatellite
(inframe_insertion +2 more)
Oculopharyngeal muscular dystrophy
+1 more
GPathogenic
BCL2L2-PABPN1, PABPN1
Microsatellite
(inframe_insertion +2 more)
not provided
GPathogenic
BCL2L2-PABPN1, PABPN1
Microsatellite
(inframe_insertion +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
BCL2L2-PABPN1, PABPN1
(A11del)
Microsatellite
(intron variant +2 more)
Oculopharyngeal muscular dystrophy
GUncertain significance
BCL2L2-PABPN1, PABPN1
Microsatellite
(no sequence alteration +2 more)
Oculopharyngeal muscular dystrophy
GPathogenic
BCL2L2-PABPN1, PABPN1
Duplication
(inframe_insertion +1 more)
Oculopharyngeal muscular dystrophy
GPathogenic
BCL2L2-PABPN1, PABPN1
Duplication
(inframe_insertion +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
BCL2L2-PABPN1, PABPN1
Duplication
(inframe_insertion +1 more)
not provided
GPathogenic
BCL2L2-PABPN1, PABPN1
(A6V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BCL2L2-PABPN1, PABPN1
Duplication
(inframe_insertion +1 more)
Oculopharyngeal muscular dystrophy
GPathogenic
BCL2L2-PABPN1, PABPN1
Microsatellite
(inframe_insertion +1 more)
Oculopharyngeal muscular dystrophy
GPathogenic
BCL2L2-PABPN1, PABPN1
Microsatellite
(intron variant +1 more)
not provided
GPathogenic
BCL2L2-PABPN1, PABPN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
BCL2L2-PABPN1, PABPN1
(A9V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
BCL2L2-PABPN1, PABPN1
(A10P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BCL2L2-PABPN1, PABPN1
(A11T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
BCL2L2-PABPN1, PABPN1
(G12A)
Single nucleotide variant
(missense variant +1 more)
Oculopharyngeal muscular dystrophy
GUncertain significance
BCL2L2-PABPN1, PABPN1
(A13P)
Single nucleotide variant
(missense variant +1 more)
Oculopharyngeal muscular dystrophy
GUncertain significance
BCL2L2-PABPN1, PABPN1
(A13D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PABPN1, BCL2L2-PABPN1
(G16C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BCL2L2-PABPN1, PABPN1
(G18C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
BCL2L2-PABPN1, PABPN1
Duplication
(intron variant +1 more)
Oculopharyngeal muscular dystrophy
GUncertain significance
PABPN1, BCL2L2-PABPN1
(E37Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BCL2L2-PABPN1, PABPN1
(P40S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BCL2L2-PABPN1, PABPN1
(P57S)
Single nucleotide variant
(missense variant +1 more)
Oculopharyngeal muscular dystrophy
+1 more
GUncertain significance
BCL2L2-PABPN1, PABPN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
BCL2L2-PABPN1, PABPN1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign
BCL2L2-PABPN1, PABPN1
Duplication
(inframe_insertion +1 more)
Oculopharyngeal muscular dystrophy
GUncertain significance
BCL2L2-PABPN1, PABPN1
(P80L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BCL2L2-PABPN1, PABPN1
(P81R)
Single nucleotide variant
(missense variant +1 more)
Oculopharyngeal muscular dystrophy
GUncertain significance
BCL2L2-PABPN1, PABPN1
(G85V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
BCL2L2-PABPN1, PABPN1
(S90L)
Single nucleotide variant
(missense variant +1 more)
Oculopharyngeal muscular dystrophy
GUncertain significance
BCL2L2-PABPN1, PABPN1
Duplication
(intron variant)
not provided
GBenign
BCL2L2-PABPN1, PABPN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BCL2L2-PABPN1, PABPN1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
BCL2L2-PABPN1, PABPN1
(P153S +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCL2L2-PABPN1, PABPN1
Single nucleotide variant
(intron variant)
not provided
GBenign
BCL2L2-PABPN1, PABPN1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
BCL2L2-PABPN1, PABPN1
(M161V +4 more)
Single nucleotide variant
(missense variant)
Oculopharyngeal muscular dystrophy
GUncertain significance
BCL2L2-PABPN1, PABPN1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
BCL2L2-PABPN1, PABPN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BCL2L2-PABPN1, PABPN1
Single nucleotide variant
(intron variant)
not provided
GBenign
BCL2L2-PABPN1, PABPN1
(S209fs +4 more)
Duplication
(frameshift variant)
Oculopharyngeal muscular dystrophy
GUncertain significance
BCL2L2-PABPN1, PABPN1
Single nucleotide variant
(intron variant)
not provided
GBenign
BCL2L2-PABPN1, PABPN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BCL2L2-PABPN1, PABPN1
(S221P +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCL2L2-PABPN1, PABPN1
Single nucleotide variant
(intron variant)
not provided
GBenign
BCL2L2-PABPN1, PABPN1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
BCL2L2-PABPN1, PABPN1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
BCL2L2-PABPN1, PABPN1
Insertion
(3 prime UTR variant +1 more)
not provided
GBenign
BCL2L2-PABPN1, PABPN1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
BCL2L2-PABPN1, PABPN1
Deletion
(3 prime UTR variant)
not provided
GLikely benign
ABHD12B, ABHD4
+289 more
Copy number gain
not provided
GPathogenic
BCL2L2, BCL2L2-PABPN1
+14 more
Deletion
Specific granule deficiency
GPathogenic
ACIN1, ADCY4
+77 more
Duplication
Lysinuric protein intolerance
+1 more
GUncertain significance
ABHD4, ACIN1
+197 more
Copy number gain
Seizure
GPathogenic
DHRS1, NYNRIN
+190 more
Deletion
Brain-lung-thyroid syndrome
GPathogenic
BCL2L2, BCL2L2-PABPN1
+6 more
Copy number gain
not specified
GUncertain significance
AKAP6, MDP1
+187 more
Copy number gain
not provided
Gnot provided
ABHD4, ACIN1
+187 more
Copy number gain
not provided
GPathogenic
NGDN, OR10G2
+47 more
Copy number gain
not provided
GLikely pathogenic
ARHGEF40, BCL2L2
+152 more
Copy number gain
not provided
GPathogenic
TMEM253, TMEM260
+638 more
Copy number gain
not provided
GPathogenic
ABCD4, ABHD12B
+638 more
Copy number gain
not provided
GPathogenic
ATXN3, BAG5
+638 more
Copy number gain
not provided
GPathogenic
ABCD4, ABHD12B
+624 more
Copy number gain
See cases
GPathogenic
ACTN1, ACTR10
+635 more
Copy number gain
See cases
GPathogenic
CIDEB, MIR208A
+164 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+149 more
Copy number gain
See cases
GPathogenic
PABPN1
Microsatellite
Oculopharyngeal muscular dystrophy
GPathogenic
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