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Items: 1 to 100 of 421

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APBA2, ARHGAP11A
+264 more
Copy number gain
See cases
GPathogenic
APBA2, ARHGAP11B
+254 more
Copy number gain
See cases
GPathogenic
GABRG3, GABRG3-AS1
+228 more
Duplication
Autism
GPathogenic
APBA2, ARHGAP11B
+227 more
Copy number gain
15q11q13 microduplication syndrome
GPathogenic
APBA2, CHRFAM7A
+205 more
Copy number gain
See cases
GPathogenic
APBA2, ARHGAP11B
+190 more
Copy number gain
See cases
GPathogenic
APBA2, ARHGAP11A-DT
+212 more
Copy number gain
See cases
GPathogenic
ACTC1, APBA2
+363 more
Copy number gain
See cases
GPathogenic
APBA2, ARHGAP11B
+205 more
Copy number loss
See cases
GPathogenic
ACTC1, APBA2
+346 more
Copy number loss
See cases
GPathogenic
APBA2, ARHGAP11A-DT
+212 more
Copy number gain
See cases
GPathogenic
APBA2, ARHGAP11B
+205 more
Copy number gain
See cases
GPathogenic
ARHGAP11B, ARHGAP11B-DT
+314 more
Copy number loss
See cases
GPathogenic
TRPM1, APBA2
+61 more
Copy number loss
See cases
GPathogenic
APBA2, ARHGAP11B
+52 more
Copy number gain
See cases
GUncertain significance
APBA2, ARHGAP11B
+52 more
Copy number loss
See cases
GPathogenic
APBA2, ARHGAP11B
+52 more
Copy number gain
See cases
GUncertain significance
APBA2, ARHGAP11B
+51 more
Copy number loss
See cases
GPathogenic
APBA2, ARHGAP11A-DT
+58 more
Copy number gain
See cases
GUncertain significance
APBA2, ARHGAP11B
+51 more
Copy number gain
See cases
GUncertain significance
ARHGAP11B, ARHGAP11B-DT
+37 more
Copy number gain
See cases
GUncertain significance
ARHGAP11A-DT, ARHGAP11B
+43 more
Copy number loss
See cases
GPathogenic
ARHGAP11B, ARHGAP11B-DT
+36 more
Copy number gain
See cases
GUncertain significance
ARHGAP11A-DT, ARHGAP11B
+41 more
Copy number loss
See cases
GPathogenic
ARHGAP11B, ARHGAP11B-DT
+34 more
Copy number loss
See cases
GPathogenic
ARHGAP11B, ARHGAP11B-DT
+34 more
Copy number gain
See cases
GPathogenic
ARHGAP11B, ARHGAP11B-DT
+34 more
Deletion
Schizophrenia
GPathogenic
ARHGAP11B, ARHGAP11B-DT
+34 more
Copy number gain
See cases
GPathogenic
ARHGAP11A-DT, ARHGAP11B
+41 more
Copy number gain
See cases
GUncertain significance
ARHGAP11B, ARHGAP11B-DT
+34 more
Copy number loss
See cases
GPathogenic
ARHGAP11A-DT, FAN1
+41 more
Copy number loss
See cases
GPathogenic
ARHGAP11B, ARHGAP11B-DT
+38 more
Copy number gain
See cases
Gconflicting data from submitters
LOC128899999, LOC129390679
+43 more
Copy number loss
See cases
GPathogenic
ARHGAP11B, ARHGAP11B-DT
+36 more
Copy number gain
See cases
GPathogenic
FAN1, ARHGAP11B
+38 more
Copy number loss
See cases
GPathogenic
ARHGAP11B, ARHGAP11B-DT
+29 more
Copy number gain
See cases
GPathogenic
ARHGAP11B, ARHGAP11B-DT
+34 more
Copy number gain
See cases
GUncertain significance
ARHGAP11B, ARHGAP11B-DT
+34 more
Copy number loss
See cases
GPathogenic
FAN1, ARHGAP11B
+25 more
Copy number loss
See cases
GPathogenic
ARHGAP11A, ARHGAP11A-DT
+43 more
Copy number loss
See cases
GPathogenic
ARHGAP11B, ARHGAP11B-DT
+34 more
Copy number gain
See cases
GUncertain significance
ARHGAP11A-DT, ARHGAP11B
+41 more
Copy number gain
See cases
Gconflicting data from submitters
ARHGAP11B, ARHGAP11B-DT
+35 more
Copy number loss
See cases
GPathogenic
ARHGAP11B, ARHGAP11B-DT
+35 more
Copy number gain
See cases
GUncertain significance
ARHGAP11A-DT, KLF13
+38 more
Copy number gain
See cases
GConflicting classifications of pathogenicity
ARHGAP11B, ARHGAP11B-DT
+31 more
Copy number loss
See cases
GPathogenic
LINC02256, ARHGAP11B
+35 more
Copy number gain
See cases
Gconflicting data from submitters
LOC130056726, LOC130056727
+31 more
Duplication
Schizophrenia
GLikely pathogenic
ARHGAP11B, ARHGAP11B-DT
+31 more
Copy number loss
See cases
GPathogenic
ARHGAP11B, ARHGAP11B-DT
+31 more
Copy number loss
See cases
GPathogenic
ARHGAP11B, ARHGAP11B-DT
+31 more
Copy number gain
See cases
GUncertain significance
ARHGAP11A, ARHGAP11A-DT
+40 more
Copy number gain
See cases
GUncertain significance
ARHGAP11B, ARHGAP11B-DT
+31 more
Copy number loss
See cases
GPathogenic
ARHGAP11B, ARHGAP11B-DT
+31 more
Copy number loss
See cases
GPathogenic
LOC128899998, LOC128899999
+29 more
Deletion
Autism
GPathogenic
LOC106736480, LOC106783506
+29 more
Duplication
Schizophrenia
GLikely pathogenic
LOC106783506, LOC110121498
+29 more
Deletion
Autism
GPathogenic
ARHGAP11B, ARHGAP11B-DT
+28 more
Copy number loss
See cases
GPathogenic
ARHGAP11A-DT, ARHGAP11B
+35 more
Copy number loss
See cases
GPathogenic
ARHGAP11B, ARHGAP11B-DT
+8 more
Deletion
not provided
GPathogenic
ARHGAP11B, ARHGAP11B-DT
+27 more
Copy number gain
See cases
Gconflicting data from submitters
KLF13, ARHGAP11B
+27 more
Copy number gain
See cases
GUncertain significance
LOC129390680, LOC130056726
+25 more
Deletion
Chromosome 15q13.3 microdeletion syndrome
GPathogenic
ARHGAP11B, CHRNA7
+24 more
Copy number loss
See cases
GPathogenic
ARHGAP11B, LINC03034
+24 more
Copy number gain
See cases
GUncertain significance
ARHGAP11B, CHRNA7
+24 more
Copy number loss
See cases
GPathogenic
ARHGAP11B, CHRNA7
+28 more
Copy number gain
See cases
GPathogenic
ARHGAP11B, FAN1
+7 more
Copy number loss
See cases
GUncertain significance
ARHGAP11B, LINC03034
+24 more
Copy number loss
See cases
GPathogenic
ARHGAP11B, CHRNA7
+24 more
Copy number gain
See cases
GUncertain significance
ARHGAP11A, ARHGAP11A-DT
+33 more
Copy number loss
See cases
GPathogenic
ARHGAP11B, CHRNA7
+24 more
Copy number gain
See cases
GUncertain significance
ARHGAP11B, CHRNA7
+23 more
Copy number loss
See cases
GPathogenic
ARHGAP11B, CHRNA7
+24 more
Copy number gain
See cases
GUncertain significance
ARHGAP11B, FAN1
+4 more
Copy number loss
See cases
GBenign
CHRNA7, FAN1
+27 more
Copy number loss
See cases
GPathogenic
CHRNA7, FAN1
+23 more
Copy number loss
See cases
GPathogenic
CHRNA7, FAN1
+23 more
Copy number loss
See cases
GPathogenic
LINC03034, CHRNA7
+23 more
Copy number gain
See cases
GUncertain significance
CHRNA7, FAN1
+23 more
Copy number gain
See cases
GUncertain significance
CHRNA7, FAN1
+23 more
Copy number loss
See cases
GPathogenic
KLF13, LINC02256
+30 more
Copy number loss
See cases
GPathogenic
CHRNA7, FAN1
+23 more
Copy number gain
See cases
GUncertain significance
CHRNA7, FAN1
+23 more
Copy number loss
See cases
GPathogenic
ARHGAP11A-DT, CHRNA7
+29 more
Copy number loss
See cases
GPathogenic
CHRNA7, FAN1
+22 more
Copy number loss
See cases
GPathogenic
CHRNA7, FAN1
+22 more
Copy number loss
See cases
GPathogenic
CHRNA7, FAN1
+22 more
Copy number gain
See cases
Gconflicting data from submitters
CHRNA7, FAN1
+22 more
Copy number loss
See cases
GPathogenic
CHRNA7, FAN1
+22 more
Copy number loss
See cases
GPathogenic
CHRNA7, FAN1
+22 more
Copy number gain
See cases
GPathogenic
ARHGAP11A-DT, GOLGA8O
+29 more
Copy number loss
See cases
GPathogenic
CHRNA7, FAN1
+22 more
Copy number loss
See cases
GPathogenic
CHRNA7, FAN1
+21 more
Copy number gain
Anomalous pulmonary venous return
GUncertain significance
FAN1, MTMR10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MTMR10, FAN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FAN1, MTMR10
Single nucleotide variant
(intron variant)
not provided
GBenign
FAN1, MTMR10
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
FAN1, MTMR10
(L653fs)
Duplication
(frameshift variant)
not provided
GPathogenic
FAN1, MTMR10
(L653S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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