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Items: 1 to 100 of 265

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130059149, LOC130059150
+1738 more
Copy number gain
See cases
GPathogenic
LOC130059330, LOC130059331
+599 more
Copy number gain
See cases
GPathogenic
LOC130059197, LOC130059198
+575 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+939 more
Copy number gain
See cases
GPathogenic
LOC130059618, LOC130059619
+1429 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+1426 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+1424 more
Copy number gain
See cases
GPathogenic
LOC130059185, LOC130059186
+869 more
Copy number gain
See cases
GPathogenic
AARS1, AP1G1
+263 more
Copy number loss
See cases
GPathogenic
AARS1, ADAMTS18
+572 more
Copy number gain
See cases
GPathogenic
AARS1, CLEC18A
+57 more
Copy number loss
See cases
GUncertain significance
COG8, PDF
Single nucleotide variant
(3 prime UTR variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8, PDF
Single nucleotide variant
(3 prime UTR variant)
COG8-congenital disorder of glycosylation
GUncertain significance
PDF, COG8
Single nucleotide variant
(3 prime UTR variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8, PDF
Single nucleotide variant
(3 prime UTR variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8, PDF
Single nucleotide variant
(3 prime UTR variant)
COG8-congenital disorder of glycosylation
GBenign
COG8, PDF
Single nucleotide variant
(3 prime UTR variant)
COG8-congenital disorder of glycosylation
GBenign
PDF, COG8
Duplication
(3 prime UTR variant)
Congenital disorder of glycosylation
GUncertain significance
COG8, PDF
(M228I +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
COG8, PDF
(W207*)
Single nucleotide variant
(nonsense +1 more)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8, PDF
(G601R +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
COG8, PDF
(N591I +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COG8, PDF
(P195S +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
COG8, PDF
Deletion
(intron variant)
not specified
GLikely benign
COG8, PDF
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
COG8, PDF
(P147L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COG8, PDF
(P136L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COG8, PDF
(Q115R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PDF, COG8
(Q101*)
Single nucleotide variant
(nonsense +1 more)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8, PDF
(T96M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COG8, PDF
(G89R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COG8, PDF
(R76H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COG8, PDF
(P73S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COG8, PDF
(P62A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COG8, PDF
(Y48C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COG8, PDF
(G41D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COG8, PDF
(P18L)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
COG8, PDF
(P18R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COG8, PDF
(P12R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COG8, PDF
(W11R)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
COG8, PDF
(L10V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COG8, PDF
(L8V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COG8, PDF
(A7S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COG8, PDF
(G6S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COG8, LOC130059304
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COG8, LOC130059304
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COG8, LOC130059304
Single nucleotide variant
(intron variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8, LOC130059304
Single nucleotide variant
(intron variant)
COG8-congenital disorder of glycosylation
GUncertain significance
LOC130059304, COG8
Deletion
(3 prime UTR variant +1 more)
not specified
GLikely benign
COG8, LOC130059304
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
LOC130059304, COG8
(P612fs)
Duplication
(frameshift variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8, LOC130059304
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
COG8, LOC130059304
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COG8, LOC130059304
(T603A +2 more)
Single nucleotide variant
(missense variant +1 more)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8, LOC130059304
(R613Q +2 more)
Single nucleotide variant
(missense variant +1 more)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8, LOC130059304
(R600* +2 more)
Single nucleotide variant
(nonsense +1 more)
COG8-related disorder
GUncertain significance
COG8, LOC130059304
Single nucleotide variant
(synonymous variant +1 more)
COG8-congenital disorder of glycosylation
GLikely benign
COG8, LOC130059304
(G598E +2 more)
Single nucleotide variant
(missense variant +1 more)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8, LOC130059304
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
COG8, LOC130059304
(P606R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COG8, LOC130059304
(E632D +2 more)
Single nucleotide variant
(missense variant +1 more)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8, LOC130059304
(P581T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
COG8, LOC130059304
(T575I)
Single nucleotide variant
(missense variant)
COG8-congenital disorder of glycosylation
GBenign/Likely benign
COG8, LOC130059304
(P572H +2 more)
Single nucleotide variant
(missense variant +1 more)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8, LOC130059304
(Q568K +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
COG8, LOC130059304
(D580G +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COG8, LOC130059304
Single nucleotide variant
(synonymous variant +1 more)
COG8-congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
COG8, LOC130059304
(F563fs +2 more)
Deletion
(frameshift variant +1 more)
COG8-congenital disorder of glycosylation
+1 more
GLikely pathogenic
COG8, LOC130059304
Single nucleotide variant
(synonymous variant +1 more)
COG8-congenital disorder of glycosylation
GLikely benign
LOC130059304, COG8
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
COG8, LOC130059304
(T561M +2 more)
Single nucleotide variant
(missense variant +1 more)
COG8-congenital disorder of glycosylation
+3 more
GConflicting classifications of pathogenicity
COG8, LOC130059304
(E607fs +2 more)
Microsatellite
(frameshift variant +1 more)
COG8-congenital disorder of glycosylation
+2 more
GPathogenic/Likely pathogenic
COG8, LOC130059304
Single nucleotide variant
(synonymous variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8, LOC130059304
Single nucleotide variant
(synonymous variant +1 more)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
(I548T +2 more)
Single nucleotide variant
(missense variant +1 more)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation
+2 more
GConflicting classifications of pathogenicity
COG8
(Y537* +2 more)
Single nucleotide variant
(nonsense +1 more)
COG8-congenital disorder of glycosylation
GPathogenic
COG8
(P531S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
COG8
(P577R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COG8
(P530L +2 more)
Single nucleotide variant
(missense variant +1 more)
COG8-congenital disorder of glycosylation
+2 more
GBenign/Likely benign
COG8
Single nucleotide variant
(synonymous variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(G541S)
Single nucleotide variant
(missense variant +2 more)
COG8-congenital disorder of glycosylation
GPathogenic
COG8
(G539V)
Single nucleotide variant
(missense variant +1 more)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
(G539E)
Single nucleotide variant
(missense variant +1 more)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COG8
Duplication
(intron variant)
not provided
GLikely benign
COG8
Single nucleotide variant
(intron variant)
not provided
GBenign
COG8
Single nucleotide variant
(intron variant)
not provided
GBenign
COG8
Duplication
(intron variant)
not provided
GLikely benign
COG8
(G528D)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
COG8
(L527*)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
COG8
(L517fs)
Deletion
(frameshift variant +1 more)
COG8-congenital disorder of glycosylation
GPathogenic
COG8
(F518L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COG8
Single nucleotide variant
(synonymous variant +1 more)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
(L517V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
COG8
(C513S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
COG8
Single nucleotide variant
(synonymous variant)
COG8-congenital disorder of glycosylation
GUncertain significance
COG8
(P508L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COG8
Single nucleotide variant
(synonymous variant +1 more)
COG8-congenital disorder of glycosylation
GLikely benign
COG8
Single nucleotide variant
(synonymous variant +1 more)
COG8-congenital disorder of glycosylation
GLikely benign
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