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Items: 79

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCD4, ABHD12B
+3284 more
Copy number gain
See cases
GPathogenic
LOC126861998, LOC126861999
+3279 more
Copy number gain
See cases
GPathogenic
ALDH6A1, ALKBH1
+1424 more
Copy number gain
See cases
GPathogenic
ADCK1, ADSS1
+1205 more
Copy number gain
See cases
GPathogenic
LOC130056392, LOC130056393
+1073 more
Copy number gain
See cases
GPathogenic
ASB2, ATXN3
+201 more
Copy number loss
See cases
GPathogenic
IGHD5-18, IGHD5-24
+881 more
Copy number gain
See cases
GPathogenic
LOC130056359, LOC130056360
+663 more
Copy number gain
See cases
GPathogenic
SERPINA6
(W393C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SERPINA6
(D389N)
Single nucleotide variant
(missense variant)
Corticosteroid-binding globulin deficiency
GConflicting classifications of pathogenicity
SERPINA6
Single nucleotide variant
(synonymous variant)
SERPINA6-related disorder
GLikely benign
SERPINA6
(N380H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(F379C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(T371A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
SERPINA6
(V346A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
Single nucleotide variant
(synonymous variant)
SERPINA6-related disorder
GBenign
SERPINA6
(D337G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(R333C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
Single nucleotide variant
(synonymous variant)
SERPINA6-related disorder
GBenign
SERPINA6
(D298V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
Single nucleotide variant
(intron variant)
SERPINA6-related disorder
GLikely benign
SERPINA6
(R287S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(D283E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(D283H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SERPINA6
(I277F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(M273I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SERPINA6
Single nucleotide variant
(synonymous variant)
SERPINA6-related disorder
GBenign
SERPINA6
(P268S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(V258M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
Single nucleotide variant
(synonymous variant)
SERPINA6-related disorder
GBenign
SERPINA6
(L243P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(S241G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(S238N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(S237L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(P232S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(Y222F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(L213R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(T206K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(F203L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(I201T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(G180E)
Single nucleotide variant
(missense variant)
Corticosteroid-binding globulin deficiency
GUncertain significance
SERPINA6
(S167N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(Y151C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SERPINA6
(L115H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
SERPINA6
(H111Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(I65V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(V55fs)
Deletion
(frameshift variant)
Corticosteroid-binding globulin deficiency
GLikely pathogenic
SERPINA6
(V55A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(V44I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(G38V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(R37Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(S33G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(N31K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(A27T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(G16C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(S15G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SERPINA6
(W11*)
Single nucleotide variant
(nonsense)
Corticosteroid-binding globulin deficiency
GPathogenic
AK7, ASB2
+80 more
Copy number loss
not provided
GPathogenic
IFI27L1, IGHA2
+182 more
Copy number gain
not provided
GPathogenic
CCNK, MIR376A1
+353 more
Copy number gain
not provided
GPathogenic
SYNE3, TC2N
+66 more
Duplication
not provided
GUncertain significance
ASB2, ATXN3
+42 more
Duplication
Achondrogenesis, type IA
GUncertain significance
ADSS1, AHNAK2
+185 more
Copy number gain
not provided
GPathogenic
OTUB2, PAPOLA
+80 more
Copy number gain
not provided
GLikely pathogenic
GSC, PPP4R4
+10 more
Copy number gain
not provided
GUncertain significance
AREL1, ARF6
+447 more
Copy number gain
See cases
GPathogenic
ASB2, ATXN3
+50 more
Copy number loss
not specified
GPathogenic
ASB2, DDX24
+15 more
Copy number gain
not specified
GUncertain significance
PPP4R4, SERPINA1
+24 more
Copy number gain
not specified
GUncertain significance
SERPINA3, SERPINA4
+23 more
Deletion
DICER1-related tumor predisposition
GLikely pathogenic
SERPINA10, SERPINA11
+74 more
Copy number loss
Deletion syndrome
GPathogenic
ATXN3, BAG5
+164 more
Copy number gain
not provided
GPathogenic
AK7, ASB2
+74 more
Copy number loss
not provided
GPathogenic
GTF2A1, GZMB
+624 more
Copy number gain
See cases
GPathogenic
ABCD4, ACOT1
+261 more
Copy number gain
See cases
GPathogenic
ASB2, BTBD7
+31 more
Copy number gain
See cases
GUncertain significance
ABCD4, ABHD12B
+635 more
Copy number gain
See cases
GPathogenic
SERPINA6
(T371M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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