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Items: 1 to 100 of 534

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABAT, ABCC1
+851 more
Copy number gain
See cases
GPathogenic
ABCC1, ABCC6
+400 more
Copy number gain
See cases
GPathogenic
APOBR, AQP8
+287 more
Copy number gain
See cases
GLikely pathogenic
LOC130058727, LOC130058728
+287 more
Copy number gain
See cases
GPathogenic
AQP8, ARHGAP17
+209 more
Copy number loss
See cases
GPathogenic
OTOA, PALB2
+280 more
Copy number gain
See cases
GPathogenic
APOBR, AQP8
+233 more
Copy number gain
See cases
GLikely pathogenic
LOC130058650, LOC130058651
+23 more
Copy number gain
See cases
GUncertain significance
DCTPP1, DOC2A
+409 more
Copy number gain
See cases
GPathogenic
COG7
Duplication
(3 prime UTR variant)
not provided
GLikely benign
COG7
Deletion
(3 prime UTR variant)
Congenital disorder of glycosylation
+1 more
GBenign
COG7
Deletion
(3 prime UTR variant)
Congenital disorder of glycosylation
GUncertain significance
COG7
Single nucleotide variant
(3 prime UTR variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
Single nucleotide variant
(3 prime UTR variant)
COG7 congenital disorder of glycosylation
+1 more
GBenign
COG7
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
COG7
Single nucleotide variant
(3 prime UTR variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
COG7
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GBenign/Likely benign
COG7
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
(V768M)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
(R766Q)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
+1 more
GUncertain significance
COG7
(R766W)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
(M765V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
(T764I)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
(A763S)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
(V762M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
+2 more
GConflicting classifications of pathogenicity
COG7
(T761A)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
(T760I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COG7
(R757H)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
(R757C)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
(R756H)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
(R756C)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
+1 more
GUncertain significance
COG7
(R748K)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
(T738M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COG7
(V737M)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COG7
(T732I)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
(R731H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
(P729S)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
(V721M)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
(L718P)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Indel
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
not provided
GBenign
COG7
Single nucleotide variant
(intron variant)
not provided
GBenign
COG7
Deletion
(intron variant)
COG7 congenital disorder of glycosylation
GBenign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
(D716N)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation
GUncertain significance
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
(K709N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COG7
(A708T)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
(E702D)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
+2 more
GBenign
COG7
(I700T)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
(Q699H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
(A696V)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
+2 more
GConflicting classifications of pathogenicity
COG7
(M690V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
(A686T)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
+1 more
GUncertain significance
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
+2 more
GConflicting classifications of pathogenicity
COG7
(A678S)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
(P672S)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
+2 more
GConflicting classifications of pathogenicity
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Microsatellite
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Deletion
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
not provided
GBenign
COG7
Single nucleotide variant
(intron variant)
not provided
GBenign
COG7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(intron variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
(K660E)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
(A658G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
COG7
(A658T)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
COG7
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COG7
(H657R)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7
Single nucleotide variant
(synonymous variant)
COG7 congenital disorder of glycosylation
GLikely benign
COG7
(S650C)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
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