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Items: 1 to 100 of 3414

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NCAM2, NDUFV3
+1159 more
Copy number gain
See cases
GPathogenic
PDE9A-AS1, PDXK
+1160 more
Copy number gain
See cases
GPathogenic
LOC130066843, LOC130066844
+1160 more
Copy number gain
See cases
GPathogenic
LOC126653343, LOC126653344
+1160 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1160 more
Copy number gain
See cases
GUncertain significance
LINC00315, LINC00316
+1160 more
Copy number gain
See cases
GPathogenic
ATP5PF, ATP5PO
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653350, LOC126653351
+1159 more
Copy number gain
See cases
GPathogenic
LINC00111, LINC00112
+1160 more
Copy number gain
See cases
GPathogenic
TSPEAR-AS1, TSPEAR-AS2
+1160 more
Copy number gain
See cases
GPathogenic
LOC130066578, LOC130066579
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653316, LOC126653317
+1157 more
Copy number gain
See cases
GPathogenic
LOC130066758, LOC130066759
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066717, LOC130066718
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
LOC125418051, LOC125418052
+1159 more
Copy number gain
See cases
GPathogenic
HSF2BP, HSPA13
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066756, LOC130066757
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1155 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1155 more
Copy number gain
See cases
GPathogenic
KRTAP12-3, KRTAP12-4
+1157 more
Copy number gain
See cases
GPathogenic
LOC107403153, LOC107548109
+1155 more
Copy number gain
See cases
GPathogenic
SON, SPATC1L
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066735, LOC130066736
+1156 more
Copy number loss
See cases
GPathogenic
LINC01424, LINC01436
+643 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+598 more
Copy number gain
See cases
GPathogenic
LOC130066759, LOC130066760
+586 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+568 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+516 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+482 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+429 more
Copy number loss
See cases
GPathogenic
BNAT1, C21orf58
+416 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+376 more
Copy number loss
See cases
GPathogenic
LOC130066735, LOC130066736
+340 more
Copy number loss
See cases
GPathogenic
LOC130066806, LOC130066807
+334 more
Copy number loss
See cases
GPathogenic
AATBC, ADARB1
+276 more
Copy number loss
See cases
GPathogenic
AATBC, ADARB1
+268 more
Copy number loss
See cases
GPathogenic
KRTAP10-12, KRTAP10-2
+245 more
Duplication
Autism
GLikely pathogenic
ADARB1, BNAT1
+89 more
Copy number loss
See cases
GPathogenic
ADARB1, BNAT1
+89 more
Copy number loss
See cases
GPathogenic
C21orf58, COL6A1
+52 more
Copy number loss
See cases
GPathogenic
C21orf58, COL6A1
+44 more
Copy number gain
See cases
GLikely benign
C21orf58, COL6A1
+50 more
Copy number loss
See cases
GUncertain significance
C21orf58, DIP2A
+34 more
Copy number loss
See cases
GUncertain significance
LOC130066875, PCNT
Deletion
not provided
GLikely benign
LOC130066875, PCNT
Single nucleotide variant
not provided
GLikely benign
LOC130066875, PCNT
Single nucleotide variant
not provided
GBenign
LOC130066875, PCNT
Single nucleotide variant
not provided
GLikely benign
LOC130066875, PCNT
Duplication
Microcephalic osteodysplastic primordial dwarfism
GUncertain significance
LOC130066875, PCNT
Deletion
Microcephalic osteodysplastic primordial dwarfism
GBenign
LOC130066875, PCNT
Single nucleotide variant
Microcephalic osteodysplastic primordial dwarfism
GUncertain significance
PCNT, LOC130066875
Single nucleotide variant
(5 prime UTR variant)
Microcephalic osteodysplastic primordial dwarfism type II
GUncertain significance
LOC130066875, PCNT
Single nucleotide variant
(5 prime UTR variant)
Microcephalic osteodysplastic primordial dwarfism type II
GUncertain significance
LOC130066875, PCNT
Single nucleotide variant
(5 prime UTR variant)
Microcephalic osteodysplastic primordial dwarfism type II
GLikely benign
LOC130066875, PCNT
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GBenign
LOC130066875, PCNT
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
PCNT
Single nucleotide variant
(5 prime UTR variant)
PCNT-related disorder
GLikely benign
PCNT
(V3I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PCNT
(V3L)
Single nucleotide variant
(missense variant)
Microcephalic osteodysplastic primordial dwarfism type II
GLikely benign
PCNT
(E6Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PCNT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PCNT
(R9fs)
Deletion
(frameshift variant)
not provided
GPathogenic
PCNT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PCNT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PCNT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PCNT
(R10T)
Single nucleotide variant
(missense variant)
PCNT-related disorder
GUncertain significance
PCNT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PCNT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PCNT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PCNT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PCNT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PCNT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PCNT
(T17A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PCNT
Single nucleotide variant
(synonymous variant)
PCNT-related disorder
+1 more
GLikely benign
PCNT
Single nucleotide variant
(synonymous variant)
PCNT-related disorder
GUncertain significance
PCNT
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
PCNT
Deletion
(intron variant)
not provided
GLikely benign
PCNT
Single nucleotide variant
(intron variant)
PCNT-related disorder
+1 more
GLikely benign
PCNT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PCNT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PCNT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PCNT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PCNT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PCNT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PCNT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC130066876, PCNT
Duplication
(intron variant)
not provided
GBenign
LOC130066876, PCNT
Insertion
(intron variant)
not provided
GBenign
LOC130066876, PCNT
Insertion
(intron variant)
not provided
GBenign
LOC128092249, PCNT
(L24*)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely benign
LOC128092249, PCNT
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC128092249, PCNT
(S25fs)
Deletion
(frameshift variant +1 more)
not provided
GLikely benign
LOC128092249, PCNT
(S25T)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
LOC128092249, PCNT
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely benign
LOC128092249, PCNT
(T26A)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
LOC128092249, PCNT
(T26I)
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely benign
LOC128092249, PCNT
(L28W)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
LOC128092249, PCNT
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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