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Items: 1 to 100 of 373

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, CALB2
+84 more
Copy number gain
See cases
GUncertain significance
AARS1, ADAT1
+295 more
Copy number loss
See cases
GPathogenic
AARS1, COG4
+27 more
Duplication
Charcot-Marie-Tooth disease type 2
GUncertain significance
ADAD2, ADAMTS18
+591 more
Copy number loss
See cases
GPathogenic
COG4, FCSK
+8 more
Deletion
COG4-congenital disorder of glycosylation
GPathogenic
COG4
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
COG4
Single nucleotide variant
(3 prime UTR variant +1 more)
COG4-related disorder
+1 more
GLikely benign
COG4
(R646H +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COG4
(R644S +2 more)
Single nucleotide variant
(missense variant +1 more)
COG4-congenital disorder of glycosylation
+1 more
GUncertain significance
COG4
(D783G +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COG4
Single nucleotide variant
(synonymous variant +1 more)
COG4-congenital disorder of glycosylation
GLikely benign
COG4
(S781N +2 more)
Single nucleotide variant
(missense variant +1 more)
COG4-congenital disorder of glycosylation
GUncertain significance
COG4
(D636H +2 more)
Single nucleotide variant
(missense variant +1 more)
COG4-related disorder
GUncertain significance
COG4
(L773R +2 more)
Single nucleotide variant
(missense variant +1 more)
COG4-congenital disorder of glycosylation
GPathogenic
COG4
(V630fs +2 more)
Deletion
(frameshift variant +1 more)
COG4-related disorder
GUncertain significance
COG4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
COG4
(R745C +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COG4
(W620fs +2 more)
Deletion
(non-coding transcript variant +1 more)
not provided
GUncertain significance
COG4
(T740A +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
COG4
(R763H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
COG4
(R738C +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COG4
(T619M +2 more)
Single nucleotide variant
(missense variant +1 more)
COG4-congenital disorder of glycosylation
GUncertain significance
COG4
Single nucleotide variant
(synonymous variant +1 more)
COG4-congenital disorder of glycosylation
+1 more
GLikely benign
COG4
Single nucleotide variant
(synonymous variant +1 more)
COG4-congenital disorder of glycosylation
GLikely benign
COG4
(D609N +2 more)
Single nucleotide variant
(missense variant +1 more)
COG4-congenital disorder of glycosylation
GConflicting classifications of pathogenicity
COG4
Single nucleotide variant
(synonymous variant +1 more)
COG4-congenital disorder of glycosylation
+2 more
GLikely benign
COG4
(E723K +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COG4
(V604M +2 more)
Single nucleotide variant
(missense variant +1 more)
COG4-congenital disorder of glycosylation
GUncertain significance
COG4
Duplication
(intron variant)
not specified
GLikely benign
COG4
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
COG4
(N742S +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
COG4
(N742D +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COG4
(T597I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COG4
(R708Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COG4
(R733W +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
COG4
(T582N +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COG4
Single nucleotide variant
(synonymous variant +1 more)
COG4-congenital disorder of glycosylation
+1 more
GBenign
COG4
(T579K +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COG4
(A575V +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COG4
Single nucleotide variant
(synonymous variant +1 more)
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
+2 more
GBenign
COG4
(S689L +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COG4
(S572W +2 more)
Single nucleotide variant
(missense variant +1 more)
COG4-congenital disorder of glycosylation
GUncertain significance
COG4
(Q682R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COG4
(G563A +2 more)
Single nucleotide variant
(missense variant +1 more)
COG4-congenital disorder of glycosylation
GUncertain significance
COG4
Single nucleotide variant
(intron variant)
COG4-congenital disorder of glycosylation
GLikely benign
COG4
Single nucleotide variant
(intron variant)
not provided
GBenign
COG4
Single nucleotide variant
(intron variant)
COG4-congenital disorder of glycosylation
GUncertain significance
COG4
(R560W +2 more)
Single nucleotide variant
(missense variant +1 more)
COG4-congenital disorder of glycosylation
GUncertain significance
COG4
(T557A +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
COG4
(V553A +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COG4
(V553L +2 more)
Single nucleotide variant
(missense variant +1 more)
COG4-congenital disorder of glycosylation
GUncertain significance
COG4
(V694A +2 more)
Single nucleotide variant
(missense variant +1 more)
COG4-congenital disorder of glycosylation
GUncertain significance
COG4
(E550D +2 more)
Single nucleotide variant
(missense variant +1 more)
COG4-congenital disorder of glycosylation
GUncertain significance
COG4
Single nucleotide variant
(synonymous variant +1 more)
COG4-congenital disorder of glycosylation
GLikely benign
COG4
(L540R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COG4
(G539S +2 more)
Single nucleotide variant
(missense variant +1 more)
COG4-congenital disorder of glycosylation
GUncertain significance
COG4
(S678R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COG4
(D535G +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
COG4
(D535N +2 more)
Single nucleotide variant
(missense variant +1 more)
COG4-congenital disorder of glycosylation
GUncertain significance
COG4
(Y534H +2 more)
Single nucleotide variant
(missense variant +1 more)
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
+1 more
GUncertain significance
COG4
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
COG4
(A527V +2 more)
Single nucleotide variant
(missense variant +1 more)
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
GLikely pathogenic
COG4
(A669P +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
COG4
Single nucleotide variant
(intron variant)
COG4-congenital disorder of glycosylation
GLikely benign
COG4
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
GUncertain significance
COG4
Single nucleotide variant
(synonymous variant +1 more)
COG4-congenital disorder of glycosylation
GLikely benign
COG4
(Q512R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COG4
Single nucleotide variant
(synonymous variant +1 more)
COG4-congenital disorder of glycosylation
GLikely benign
COG4
(D508H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COG4
(D650N +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COG4
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
COG4
(N502S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
COG4
(F501L +2 more)
Single nucleotide variant
(missense variant +1 more)
COG4-congenital disorder of glycosylation
GLikely benign
COG4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COG4
Single nucleotide variant
(intron variant)
not provided
GBenign
COG4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COG4
Single nucleotide variant
(intron variant)
not provided
GBenign
COG4
Deletion
(intron variant)
not provided
GBenign
COG4
Single nucleotide variant
(intron variant)
not provided
GBenign
COG4
Single nucleotide variant
(intron variant)
not provided
GBenign
COG4
(N495I +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COG4
(V492I +2 more)
Single nucleotide variant
(missense variant +1 more)
COG4-congenital disorder of glycosylation
+1 more
GUncertain significance
COG4
(F632L +2 more)
Single nucleotide variant
(missense variant +1 more)
COG4-congenital disorder of glycosylation
GUncertain significance
COG4
(Q625H +2 more)
Single nucleotide variant
(missense variant +1 more)
COG4-congenital disorder of glycosylation
GUncertain significance
COG4
(I478V +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
COG4
(E614* +2 more)
Single nucleotide variant
(nonsense +1 more)
COG4-congenital disorder of glycosylation
+2 more
GPathogenic
COG4
Single nucleotide variant
(synonymous variant +1 more)
COG4-congenital disorder of glycosylation
GLikely benign
COG4
Single nucleotide variant
(synonymous variant +1 more)
COG4-congenital disorder of glycosylation
GLikely benign
COG4
(T613M +2 more)
Single nucleotide variant
(missense variant +1 more)
COG4-congenital disorder of glycosylation
GUncertain significance
COG4
Single nucleotide variant
(intron variant)
not specified
GLikely benign
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