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Items: 1 to 100 of 1542

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A2M, A2M-AS1
+1258 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+1258 more
Copy number gain
See cases
GPathogenic
LOC130007649, LOC130007650
+1258 more
Copy number gain
See cases
GPathogenic
LOC124625919, LOC124625920
+1009 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+1257 more
Copy number gain
See cases
GPathogenic
LOC126861648, LOC126861649
+4836 more
Copy number gain
See cases
GPathogenic
LOC130007425, LOC130007426
+1257 more
Copy number gain
See cases
GPathogenic
WBP11, WNK1
+1242 more
Copy number gain
See cases
GPathogenic
PRB2, PRB3
+853 more
Copy number gain
See cases
GPathogenic
LOC130007339, LOC130007340
+698 more
Copy number gain
See cases
GPathogenic
APOLD1, ARHGDIB
+238 more
Copy number loss
See cases
GLikely pathogenic
APOLD1, BCL2L14
+121 more
Copy number loss
See cases
GPathogenic
APOLD1, ARHGDIB
+137 more
Copy number loss
See cases
GPathogenic
APOLD1, ARHGDIB
+140 more
Copy number loss
See cases
GPathogenic
GRIN2B
Single nucleotide variant
(3 prime UTR variant)
Intellectual Disability, Dominant
+1 more
GConflicting classifications of pathogenicity
GRIN2B
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
GRIN2B
Single nucleotide variant
(3 prime UTR variant)
Intellectual Disability, Dominant
GUncertain significance
GRIN2B
Single nucleotide variant
(3 prime UTR variant)
Intellectual Disability, Dominant
GUncertain significance
GRIN2B
Deletion
(3 prime UTR variant)
Intellectual Disability, Dominant
GUncertain significance
GRIN2B
Deletion
(3 prime UTR variant)
Intellectual Disability, Dominant
GUncertain significance
GRIN2B
(S1479fs)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 27
+1 more
GUncertain significance
GRIN2B
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 6
+1 more
GLikely benign
GRIN2B
(S1478P)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+1 more
GUncertain significance
GRIN2B
(L1477V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+1 more
GUncertain significance
GRIN2B
(Y1474C)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+1 more
GLikely benign
GRIN2B
(H1472Q)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+1 more
GLikely benign
GRIN2B
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 6
+2 more
GLikely benign
GRIN2B
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 27
+2 more
GLikely benign
GRIN2B
(N1470S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRIN2B
(S1469N)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 27
+1 more
GUncertain significance
GRIN2B
(S1468P)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+1 more
GUncertain significance
GRIN2B
(G1467A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRIN2B
(A1464P)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 27
+1 more
GUncertain significance
GRIN2B
(P1462H)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+1 more
GLikely benign
GRIN2B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
GRIN2B
(N1459del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
GRIN2B
(N1459D)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+2 more
GBenign/Likely benign
GRIN2B
(S1452F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GRIN2B
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GRIN2B
(I1446N)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 27
+1 more
GBenign
GRIN2B
(K1444del)
Deletion
(inframe_deletion +1 more)
Developmental and epileptic encephalopathy, 27
+1 more
GUncertain significance
GRIN2B
(K1444E)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+1 more
GUncertain significance
GRIN2B
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 6
+1 more
GLikely benign
GRIN2B
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 27
+1 more
GLikely benign
GRIN2B
(F1442L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+1 more
GUncertain significance
GRIN2B
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 27
+1 more
GLikely benign
GRIN2B
(R1441H)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 27
+2 more
GBenign/Likely benign
GRIN2B
(R1441C)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 27
+1 more
GBenign
GRIN2B
(A1440G)
Single nucleotide variant
(missense variant)
Intellectual disability
GLikely benign
GRIN2B
(A1440S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 27
+1 more
GLikely benign
GRIN2B
(P1439L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GRIN2B
(P1439A)
Single nucleotide variant
(missense variant)
Landau-Kleffner syndrome
+1 more
GUncertain significance
GRIN2B
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 6
+1 more
GLikely benign
GRIN2B
(V1438M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GRIN2B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
GRIN2B
(A1437V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+1 more
GUncertain significance
GRIN2B
(A1437I)
Indel
(missense variant)
Developmental and epileptic encephalopathy, 27
+1 more
GLikely benign
GRIN2B
(A1437T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
GRIN2B
(G1436A)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 27
+1 more
GConflicting classifications of pathogenicity
GRIN2B
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 27
+1 more
GLikely benign
GRIN2B
(H1435fs)
Duplication
(frameshift variant)
Intellectual disability, autosomal dominant 6
+1 more
GUncertain significance
GRIN2B
(L1434F)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+2 more
GConflicting classifications of pathogenicity
GRIN2B
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GRIN2B
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 6
+1 more
GLikely benign
GRIN2B
(V1431A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRIN2B
(V1430A)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+1 more
GBenign
GRIN2B
(V1430M)
Single nucleotide variant
(missense variant)
GRIN2B-related condition
GUncertain significance
GRIN2B
(V1430L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRIN2B
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 6
+2 more
GLikely benign
GRIN2B
(P1429L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+1 more
GBenign
GRIN2B
(K1428Q)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
GUncertain significance
GRIN2B
(L1424F)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+1 more
GBenign
GRIN2B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
GRIN2B
(A1423V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+1 more
GUncertain significance
GRIN2B
(R1422Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GRIN2B
(R1422G)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+1 more
GUncertain significance
GRIN2B
(R1422W)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 27
+1 more
GUncertain significance
GRIN2B
(F1421L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GRIN2B
(D1420G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 27
+1 more
GUncertain significance
GRIN2B
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 6
+1 more
GLikely benign
GRIN2B
(P1419L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
GLikely pathogenic
GRIN2B
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 6
+1 more
GLikely benign
GRIN2B
(A1417G)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+1 more
GUncertain significance
GRIN2B
(A1417V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+1 more
GUncertain significance
GRIN2B
(A1417S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 27
+1 more
GUncertain significance
GRIN2B
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 6
+1 more
GLikely benign
GRIN2B
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 6
+2 more
GLikely benign
GRIN2B
(S1415W)
Single nucleotide variant
(missense variant)
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
+1 more
GUncertain significance
GRIN2B
(S1415L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+2 more
GUncertain significance
GRIN2B
Deletion
(nonsense)
Complex neurodevelopmental disorder
GUncertain significance
GRIN2B
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 6
+1 more
GLikely benign
GRIN2B
(A1414V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
GRIN2B
(A1414T)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+1 more
GUncertain significance
GRIN2B
(A1414S)
Single nucleotide variant
(missense variant)
GRIN2B-related condition
+4 more
GBenign/Likely benign
GRIN2B
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 27
+1 more
GLikely benign
GRIN2B
(A1412E)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+2 more
GBenign/Likely benign
GRIN2B
(V1411G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRIN2B
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 6
+1 more
GLikely benign
GRIN2B
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 6
+1 more
GBenign
GRIN2B
(T1410R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 27
+1 more
GBenign
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