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Items: 1 to 100 of 254

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABAT, ABCC1
+852 more
Copy number gain
See cases
GPathogenic
LOC125146428, LOC125146429
+400 more
Copy number gain
See cases
GPathogenic
APOBR, AQP8
+287 more
Copy number gain
See cases
GLikely pathogenic
LOC130058727, LOC130058728
+287 more
Copy number gain
See cases
GPathogenic
AQP8, ARHGAP17
+209 more
Copy number loss
See cases
GPathogenic
OTOA, PALB2
+280 more
Copy number gain
See cases
GPathogenic
CDR2, CDR2-DT
+40 more
Copy number gain
See cases
GUncertain significance
CDR2, CDR2-DT
+37 more
Copy number loss
See cases
GUncertain significance
CDR2, CDR2-DT
+37 more
Copy number loss
See cases
GUncertain significance
CDR2, CDR2-DT
+38 more
Copy number gain
See cases
GUncertain significance
CDR2, CDR2-DT
+36 more
Copy number loss
See cases
GUncertain significance
CDR2, CDR2-DT
+36 more
Copy number loss
See cases
GUncertain significance
CDR2, CDR2-DT
+40 more
Copy number loss
See cases
GUncertain significance
CDR2, CDR2-DT
+36 more
Copy number loss
See cases
GUncertain significance
CDR2, CDR2-DT
+36 more
Copy number loss
See cases
GBenign
CDR2, EEF2K
+32 more
Copy number gain
See cases
GUncertain significance
CDR2, CDR2-DT
+36 more
Copy number loss
See cases
GUncertain significance
CDR2, CDR2-DT
+36 more
Copy number gain
See cases
GUncertain significance
CDR2, EEF2K
+32 more
Copy number loss
See cases
GUncertain significance
CDR2, CDR2-DT
+39 more
Copy number loss
See cases
GUncertain significance
CDR2, CDR2-DT
+36 more
Copy number gain
See cases
GUncertain significance
CDR2, CDR2-DT
+36 more
Copy number loss
See cases
GUncertain significance; Pathogenic/Likely pathogenic
CDR2, CDR2-DT
+36 more
Copy number loss
See cases
Gconflicting data from submitters
CDR2, CDR2-DT
+35 more
Copy number loss
See cases
GUncertain significance
CDR2-DT, LOC105371129
+35 more
Copy number loss
See cases
GUncertain significance
LOC130058635, LOC130058646
+35 more
Duplication
Schizophrenia
GLikely pathogenic
LOC130058632, LOC130058633
+35 more
Duplication
Autism
GLikely pathogenic
CDR2, CDR2-DT
+35 more
Deletion
Schizophrenia
GLikely pathogenic
CDR2, CDR2-DT
+35 more
Copy number loss
See cases
GUncertain significance
CDR2, CDR2-DT
+35 more
Deletion
Chromosome 16p12.1 deletion syndrome, 520kb
GPathogenic
CDR2, CDR2-DT
+35 more
Copy number loss
See cases
Gconflicting data from submitters
CDR2, CDR2-DT
+35 more
Copy number loss
See cases
GUncertain significance
CDR2, CDR2-DT
+35 more
Copy number loss
See cases
Gconflicting data from submitters
LOC130058628, UQCRC2
Single nucleotide variant
not provided
GLikely benign
LOC130058628, UQCRC2
Single nucleotide variant
not provided
GBenign
UQCRC2
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
UQCRC2
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GBenign
UQCRC2
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
UQCRC2
(G8D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UQCRC2
(S11L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
UQCRC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
UQCRC2
Duplication
(intron variant)
not provided
GBenign
UQCRC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
UQCRC2
Deletion
(intron variant)
not provided
GLikely benign
UQCRC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
UQCRC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
UQCRC2
(V18I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UQCRC2
(K21R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UQCRC2
(A27V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
UQCRC2
(P32L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
UQCRC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
UQCRC2
Single nucleotide variant
(splice donor variant)
Mitochondrial complex III deficiency nuclear type 5
GUncertain significance
UQCRC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
UQCRC2
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
CDR2, CDR2-DT
+34 more
Deletion
not provided
GUncertain significance
UQCRC2
(Y55S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
UQCRC2
(S69N)
Single nucleotide variant
(missense variant)
Mitochondrial complex III deficiency nuclear type 5
GUncertain significance
UQCRC2
(N76S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD9, UQCRC2
(H81R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD9, UQCRC2
(R84C)
Single nucleotide variant
(missense variant)
UQCRC2-related disorder
GUncertain significance
PDZD9, UQCRC2
(R84H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD9, UQCRC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD9, UQCRC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD9, UQCRC2
(L89P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PDZD9, UQCRC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PDZD9, UQCRC2
Single nucleotide variant
(intron variant)
not provided
GBenign
PDZD9, UQCRC2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PDZD9, UQCRC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD9, UQCRC2
(F97L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD9, UQCRC2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
PDZD9, UQCRC2
(G108D)
Single nucleotide variant
(missense variant)
Mitochondrial complex III deficiency nuclear type 5
GPathogenic
PDZD9, UQCRC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD9, UQCRC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PDZD9, UQCRC2
(Y121H)
Single nucleotide variant
(missense variant)
Mitochondrial complex III deficiency nuclear type 5
+1 more
GConflicting classifications of pathogenicity
PDZD9, UQCRC2
(T122A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZD9, UQCRC2
(R127Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZD9, UQCRC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
UQCRC2, PDZD9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PDZD9, UQCRC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PDZD9, UQCRC2
(E135D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZD9, UQCRC2
(N139S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD9, UQCRC2
(V140I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD9, UQCRC2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
PDZD9, UQCRC2
(T142I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZD9, UQCRC2
(F146S)
Single nucleotide variant
(missense variant)
Mitochondrial complex III deficiency nuclear type 5
GUncertain significance
PDZD9, UQCRC2
(R147H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZD9, UQCRC2
(R148S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PDZD9, UQCRC2
(R148H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDZD9, UQCRC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PDZD9, UQCRC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PDZD9, UQCRC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD9, UQCRC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
UQCRC2, PDZD9
(R183W)
Single nucleotide variant
(missense variant)
Mitochondrial complex III deficiency nuclear type 5
+1 more
GPathogenic/Likely pathogenic
UQCRC2, PDZD9
(R183Q)
Single nucleotide variant
(missense variant)
Mitochondrial complex III deficiency nuclear type 5
+2 more
GBenign
PDZD9, UQCRC2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
UQCRC2, PDZD9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
UQCRC2, PDZD9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDZD9, UQCRC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PDZD9, UQCRC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PDZD9, UQCRC2
Single nucleotide variant
(intron variant)
not provided
GBenign
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