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Items: 1 to 100 of 125

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006930, LOC130006931
+1199 more
Copy number gain
See cases
GPathogenic
MPZL3, MSANTD2
+769 more
Copy number gain
See cases
GPathogenic
LOC129390375, LOC129390376
+764 more
Copy number gain
See cases
GPathogenic
POU2F3, PRDM10
+764 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+763 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+635 more
Copy number gain
See cases
GPathogenic
LOC130007028, LOC130007029
+608 more
Duplication
Schizophrenia
GLikely pathogenic
ACAD8, ACRV1
+551 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+549 more
Copy number loss
See cases
GPathogenic
OR8G5, PANX3
+519 more
Copy number gain
See cases
GPathogenic
LOC129390377, LOC129390378
+488 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+497 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+444 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+442 more
Copy number loss
See cases
GPathogenic
LOC130007011, LOC130007012
+440 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+439 more
Copy number loss
See cases
GPathogenic
ST14, ST3GAL4
+368 more
Copy number loss
See cases
GPathogenic
LOC130007071, LOC130007072
+363 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+353 more
Copy number loss
See cases
GPathogenic
LOC112061823, LOC112067710
+352 more
Copy number loss
See cases
GPathogenic
TMEM218, TMEM45B
+343 more
Copy number loss
See cases
GPathogenic
LOC130007029, LOC130007030
+312 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+299 more
Copy number loss
See cases
GPathogenic
FOXRED1, GLB1L2
+266 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+265 more
Copy number loss
See cases
GPathogenic
LOC121392949, LOC121392950
+261 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+239 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+239 more
Copy number gain
See cases
GPathogenic
ACAD8, ADAMTS15
+222 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+221 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+220 more
Copy number loss
See cases
GPathogenic
ADAMTS15, ADAMTS8
+99 more
Copy number loss
See cases
GLikely pathogenic
ACAD8, ADAMTS15
+145 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+123 more
Copy number loss
See cases
GPathogenic
ADAMTS15, LINC02551
+43 more
Copy number gain
See cases
GUncertain significance
ACAD8, B3GAT1
+99 more
Copy number loss
See cases
GPathogenic
ACAD8, B3GAT1
+88 more
Copy number loss
See cases
GPathogenic
ACAD8, B3GAT1
+75 more
Copy number loss
See cases
GPathogenic
OPCML
(H340Y +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
OPCML
(A297V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
OPCML
(M263I +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
OPCML
(N140T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACAD8, B3GAT1
+65 more
Copy number loss
See cases
GUncertain significance
LOC126861400, LOC126861401
+2 more
Copy number gain
See cases
GUncertain significance
OPCML
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OPCML
(P95R +2 more)
Single nucleotide variant
(missense variant +1 more)
Neoplasm of ovary
GPathogenic
OPCML
(D73N +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
OPCML
(R55Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACAD8, B3GAT1
+62 more
Copy number loss
See cases
GPathogenic
LOC124625874, LOC130007108
+3 more
Copy number gain
See cases
GLikely benign
OPCML
Deletion
(intron variant)
Schizophrenia
GUncertain significance
ACAD8, B3GAT1
+60 more
Copy number loss
See cases
GLikely pathogenic
LINC02743, LOC112067710
+9 more
Copy number gain
See cases
GUncertain significance
LOC112067711, LOC126861402
+2 more
Copy number gain
See cases
GLikely benign
OPCML
Copy number loss
not provided
GUncertain significance
IGSF9B, LINC02743
+2 more
Copy number gain
not provided
GUncertain significance
AASDHPPT, ABCG4
+275 more
Duplication
not provided
GPathogenic
JHY, RPUSD4
+107 more
Copy number loss
11q partial monosomy syndrome
GPathogenic
NTM, SPATA19
+12 more
Copy number loss
Feeding difficulties
+3 more
GPathogenic
ACAD8, B3GAT1
+10 more
Copy number gain
not provided
GUncertain significance
ACAD8, ACRV1
+94 more
Copy number loss
not provided
GPathogenic
ACAD8, B3GAT1
+12 more
Copy number loss
not provided
GLikely pathogenic
ACAD8, B3GAT1
+12 more
Copy number gain
See cases
GPathogenic
TP53AIP1, VPS26B
+30 more
Copy number loss
Syndromic anorectal malformation
GLikely pathogenic
GRIA4, GRIK4
+956 more
Copy number gain
MISSED ABORTION
GPathogenic
ACAD8, ADAMTS15
+17 more
Copy number gain
Seizure
GLikely pathogenic
VPS26B, ZBTB44
+28 more
Copy number loss
not provided
GPathogenic
NTM, OPCML
Copy number loss
not provided
GUncertain significance
NTM, IGSF9B
+17 more
Copy number loss
not provided
GLikely pathogenic
ETS1, GLB1L3
+30 more
Copy number loss
not provided
GPathogenic
TP53AIP1, FLI1
+41 more
Copy number loss
not provided
GPathogenic
AASDHPPT, ABCG4
+259 more
Duplication
Distal trisomy 11q
GPathogenic
OPCML, NTM
Copy number loss
not provided
GUncertain significance
NTM, VPS26B
+12 more
Copy number gain
not provided
GUncertain significance
LINC02743, VSIG2
+74 more
Copy number loss
not provided
GPathogenic
ACAD8, ACRV1
+108 more
Copy number loss
not provided
GPathogenic
ACAD8, ACRV1
+74 more
Deletion
Paris-Trousseau thrombocytopenia
GPathogenic
ACAD8, B3GAT1
+12 more
Copy number loss
not provided
GPathogenic
ABCG4, ACAD8
+160 more
Copy number gain
not provided
GPathogenic
OPCML
Copy number loss
not provided
GUncertain significance
ACAD8, ACRV1
+108 more
Copy number loss
See cases
GPathogenic
ABCG4, ACAD8
+176 more
Copy number gain
not provided
GPathogenic
ABCG4, ACAD8
+177 more
Copy number gain
not provided
GPathogenic
ACAD8, GLB1L3
+8 more
Copy number loss
11q partial monosomy syndrome
GPathogenic
ACAD8, ACRV1
+51 more
Copy number loss
11q partial monosomy syndrome
GPathogenic
OPCML
Copy number loss
not provided
GBenign
OPCML
Copy number gain
not provided
GBenign
OPCML, NTM
Copy number loss
not provided
GBenign
LINC02714, JAM3
+12 more
Copy number loss
not provided
GPathogenic
PUS3, ARHGAP32
+51 more
Copy number loss
not provided
GPathogenic
CHORDC1, CHRDL2
+1293 more
Copy number gain
not provided
GPathogenic
OPCML
Copy number loss
not provided
GBenign
OPCML
Copy number loss
not provided
GBenign
SPATA19, KCNJ5-AS1
+30 more
Copy number gain
not provided
GBenign
THYN1, LINC02714
+32 more
Copy number gain
not provided
GPathogenic
CDON, CENATAC
+176 more
Copy number gain
not provided
GPathogenic
AAMDC, AASDHPPT
+1292 more
Copy number gain
not provided
GPathogenic
ABCG4, ACAD8
+177 more
Copy number gain
not provided
GPathogenic
ACAD8, ACRV1
+114 more
Copy number loss
not provided
GPathogenic
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