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Items: 1 to 100 of 252

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
LOC123453201, LOC123453202
+1450 more
Copy number gain
See cases
GPathogenic
LOC129938169, LOC129938170
+1318 more
Copy number gain
See cases
GPathogenic
LOC108281160, LOC108281177
+1247 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+1245 more
Copy number gain
See cases
GPathogenic
LOC132088897, LOC132088898
+1201 more
Copy number gain
See cases
GPathogenic
LOC129938260, LOC129938261
+1064 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+627 more
Copy number gain
See cases
GLikely pathogenic
LOC129938077, LOC129938078
+1041 more
Copy number gain
See cases
GPathogenic
ZMAT3, ZNF639
+867 more
Copy number gain
See cases
GPathogenic
LOC129938282, LOC129938283
+866 more
Copy number gain
See cases
GPathogenic
ALG3, AP2M1
+280 more
Duplication
Currarino triad
GLikely pathogenic
ABCC5, ABCC5-AS1
+399 more
Copy number loss
See cases
GPathogenic
ABCC5, ABCC5-AS1
+205 more
Copy number loss
See cases
GLikely pathogenic
LOC121048724, LOC121048725
+160 more
Copy number loss
Esodeviation
+7 more
GPathogenic
ABCC5, ABCC5-AS1
+85 more
Copy number loss
See cases
GLikely pathogenic
ABCC5, ABCC5-AS1
+63 more
Copy number gain
See cases
GUncertain significance
ABCC5, ABCC5-AS1
+126 more
Copy number loss
See cases
GLikely pathogenic
ALG3, CAMK2N2
+35 more
Copy number gain
See cases
GPathogenic
EIF4G1, FAM131A
+26 more
Copy number loss
See cases
GUncertain significance
ALG3, CAMK2N2
+24 more
Copy number gain
See cases
GBenign
ALG3
Single nucleotide variant
(3 prime UTR variant +1 more)
ALG3-congenital disorder of glycosylation
GUncertain significance
ALG3
Single nucleotide variant
(3 prime UTR variant +1 more)
ALG3-congenital disorder of glycosylation
GUncertain significance
ALG3
Single nucleotide variant
(3 prime UTR variant +1 more)
ALG3-congenital disorder of glycosylation
GUncertain significance
ALG3
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+2 more
GBenign
ALG3
Single nucleotide variant
(3 prime UTR variant +1 more)
ALG3-related disorder
GLikely benign
ALG3
(F379Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ALG3
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign/Likely benign
ALG3
(P424L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
ALG3
(W421* +1 more)
Single nucleotide variant
(nonsense +1 more)
ALG3-congenital disorder of glycosylation
GPathogenic
ALG3
Single nucleotide variant
(synonymous variant +1 more)
ALG3-congenital disorder of glycosylation
GLikely benign
ALG3
(V415I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ALG3
Single nucleotide variant
(synonymous variant +1 more)
ALG3-congenital disorder of glycosylation
GLikely benign
ALG3
Single nucleotide variant
(synonymous variant +1 more)
ALG3-congenital disorder of glycosylation
GLikely benign
ALG3
(C404W +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ALG3
(T398I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ALG3
(N397fs +1 more)
Duplication
(frameshift variant +1 more)
ALG3-congenital disorder of glycosylation
GUncertain significance
ALG3
(W396* +2 more)
Single nucleotide variant
(nonsense +1 more)
ALG3-congenital disorder of glycosylation
GUncertain significance
ALG3
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GLikely benign
ALG3
Single nucleotide variant
(synonymous variant +1 more)
ALG3-congenital disorder of glycosylation
GLikely benign
ALG3
Single nucleotide variant
(synonymous variant +1 more)
ALG3-congenital disorder of glycosylation
GUncertain significance
ALG3
Single nucleotide variant
(intron variant)
ALG3-related disorder
GLikely benign
ALG3
(R337T +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
ALG3-congenital disorder of glycosylation
GPathogenic
ALG3
Single nucleotide variant
(synonymous variant +1 more)
ALG3-congenital disorder of glycosylation
GUncertain significance
ALG3
(R330C +2 more)
Single nucleotide variant
(missense variant +1 more)
ALG3-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ALG3
(Y322H +1 more)
Single nucleotide variant
(missense variant +1 more)
ALG3-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG3
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GLikely benign
ALG3
(V362I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ALG3
Single nucleotide variant
(synonymous variant +1 more)
ALG3-congenital disorder of glycosylation
GUncertain significance
ALG3
Single nucleotide variant
(synonymous variant +1 more)
ALG3-congenital disorder of glycosylation
GUncertain significance
ALG3
(R306H +1 more)
Single nucleotide variant
(missense variant +1 more)
ALG3-congenital disorder of glycosylation
GPathogenic
ALG3
(R306S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ALG3
(R306C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
ALG3
(N346S +1 more)
Single nucleotide variant
(missense variant +1 more)
ALG3-congenital disorder of glycosylation
GPathogenic
ALG3
(L342I +1 more)
Single nucleotide variant
(missense variant +1 more)
ALG3-congenital disorder of glycosylation
GConflicting classifications of pathogenicity
ALG3
(V339I +1 more)
Single nucleotide variant
(missense variant +1 more)
ALG3-congenital disorder of glycosylation
GUncertain significance
ALG3
Single nucleotide variant
(synonymous variant +1 more)
ALG3-congenital disorder of glycosylation
GUncertain significance
ALG3
Single nucleotide variant
(synonymous variant +1 more)
ALG3-congenital disorder of glycosylation
GLikely benign
ALG3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALG3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALG3
Single nucleotide variant
(intron variant)
not provided
GBenign
ALG3
Single nucleotide variant
(intron variant)
not provided
GBenign
ALG3
Single nucleotide variant
(intron variant)
ALG3-congenital disorder of glycosylation
GLikely benign
ALG3
(Q331* +1 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
GPathogenic
ALG3
(P281A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ALG3
(P329S +1 more)
Single nucleotide variant
(missense variant +1 more)
ALG3-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG3
(R278K +1 more)
Single nucleotide variant
(missense variant +1 more)
ALG3-congenital disorder of glycosylation
GUncertain significance
ALG3
(S276C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ALG3
Single nucleotide variant
(synonymous variant +1 more)
ALG3-congenital disorder of glycosylation
GBenign
ALG3
(S270L +1 more)
Single nucleotide variant
(missense variant +1 more)
ALG3-congenital disorder of glycosylation
GUncertain significance
ALG3
Single nucleotide variant
(synonymous variant +1 more)
ALG3-congenital disorder of glycosylation
GLikely benign
ALG3
(S267N +2 more)
Single nucleotide variant
(missense variant +1 more)
ALG3-congenital disorder of glycosylation
GUncertain significance
ALG3
Single nucleotide variant
(intron variant)
ALG3-congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
ALG3
Deletion
(intron variant)
ALG3-congenital disorder of glycosylation
GLikely benign
ALG3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALG3
Single nucleotide variant
(intron variant)
ALG3-congenital disorder of glycosylation
GLikely benign
ALG3
(H310R +1 more)
Single nucleotide variant
(missense variant +1 more)
ALG3-congenital disorder of glycosylation
GUncertain significance
ALG3
(C259* +2 more)
Single nucleotide variant
(nonsense +1 more)
Congenital disorder of glycosylation
GLikely pathogenic
ALG3
Single nucleotide variant
(synonymous variant +1 more)
ALG3-congenital disorder of glycosylation
GLikely benign
ALG3
(A305D +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ALG3
(H249R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ALG3
Single nucleotide variant
(synonymous variant +1 more)
ALG3-congenital disorder of glycosylation
GLikely benign
ALG3
(A240V +1 more)
Single nucleotide variant
(missense variant +1 more)
ALG3-congenital disorder of glycosylation
GUncertain significance
ALG3
(H251L +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ALG3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ALG3
Single nucleotide variant
(synonymous variant +1 more)
ALG3-congenital disorder of glycosylation
GUncertain significance
ALG3
(A282V +1 more)
Single nucleotide variant
(missense variant +1 more)
ALG3-congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
ALG3
(H223R +1 more)
Single nucleotide variant
(missense variant +1 more)
ALG3-congenital disorder of glycosylation
GUncertain significance
ALG3
(Q267K +1 more)
Single nucleotide variant
(missense variant +1 more)
ALG3-congenital disorder of glycosylation
GUncertain significance
ALG3
(R218H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ALG3
(R218C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
ALG3
(L216F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ALG3
(R212C +1 more)
Single nucleotide variant
(missense variant +1 more)
ALG3-congenital disorder of glycosylation
GUncertain significance
ALG3
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
ALG3
(S255R +1 more)
Single nucleotide variant
(missense variant +1 more)
ALG3-congenital disorder of glycosylation
GUncertain significance
ALG3
(L251P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
ALG3
(L202Q +1 more)
Single nucleotide variant
(missense variant +1 more)
ALG3-congenital disorder of glycosylation
GUncertain significance
ALG3
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
ALG3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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