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Items: 1 to 100 of 132

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121740684, LOC121740685
+4735 more
Copy number loss
See cases
GPathogenic
ASL, CCT6A
+228 more
Copy number gain
See cases
GPathogenic
ASL, CICP24
+113 more
Copy number gain
See cases
GPathogenic
ABHD11, ABHD11-AS1
+350 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+349 more
Copy number gain
See cases
GPathogenic
ASL, AUTS2
+157 more
Copy number loss
See cases
GPathogenic
LINC02604, LOC121740683
+16 more
Copy number gain
Diaphragmatic hernia
GUncertain significance
SBDS
Deletion
Shwachman-Diamond syndrome 1
GPathogenic
SBDS
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
SBDS
(D246N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SBDS
(E244del)
Microsatellite
(inframe_deletion)
not provided
GLikely pathogenic
SBDS
(K240R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SBDS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
SBDS
(G232V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SBDS
(I224T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SBDS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
SBDS
(E222Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SBDS
(R218Q)
Single nucleotide variant
(missense variant)
Shwachman-Diamond syndrome 1
+1 more
GLikely pathogenic
SBDS
(R218*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
SBDS
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
SBDS
(I212S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SBDS
(I212T)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
SBDS
(C210Y)
Single nucleotide variant
(missense variant)
Shwachman-Diamond syndrome 1
GLikely pathogenic
SBDS
Deletion
Shwachman-Diamond syndrome 1
GPathogenic
SBDS
Duplication
(splice donor variant)
not provided
GLikely pathogenic
SBDS
Single nucleotide variant
(splice donor variant)
Aplastic anemia
GLikely pathogenic
SBDS
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
SBDS
(Q205*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GPathogenic
SBDS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
SBDS
(N181D)
Single nucleotide variant
(missense variant)
Shwachman-Diamond syndrome 1
GUncertain significance
SBDS
(R175Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SBDS
(R175fs)
Deletion
(frameshift variant)
Aplastic anemia
GLikely pathogenic
SBDS
(R175W)
Single nucleotide variant
(missense variant)
Aplastic anemia
+2 more
GConflicting classifications of pathogenicity
SBDS
(H171R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SBDS
(R169C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SBDS
(K166N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SBDS
(Q160*)
Single nucleotide variant
(nonsense)
Shwachman-Diamond syndrome 1
GLikely pathogenic
SBDS
Single nucleotide variant
(splice acceptor variant)
Inborn genetic diseases
GPathogenic
SBDS
Deletion
(splice acceptor variant +1 more)
Shwachman-Diamond syndrome 1
GPathogenic
SBDS
Single nucleotide variant
(intron variant)
not provided
GBenign
SBDS
Single nucleotide variant
(intron variant)
not provided
GBenign
SBDS
(Q152fs)
Duplication
(frameshift variant)
Aplastic anemia
+1 more
GLikely pathogenic
SBDS
(V144A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SBDS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
SBDS
(S143L)
Single nucleotide variant
(missense variant)
Aplastic anemia
GLikely pathogenic
SBDS
(V130M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
SBDS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
SBDS
(T129S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SBDS
(R126T)
Single nucleotide variant
(missense variant)
Shwachman-Diamond syndrome 1
Gnot provided
SBDS
(K125fs)
Deletion
(frameshift variant)
Inborn genetic diseases
GPathogenic
SBDS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
SBDS
(D117E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SBDS
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
SBDS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
SBDS
(R109T)
Single nucleotide variant
(missense variant)
Shwachman-Diamond syndrome 1
GUncertain significance
SBDS
(E105K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SBDS
(Q103fs)
Microsatellite
(frameshift variant)
Aplastic anemia
GPathogenic
SBDS
(T102fs)
Microsatellite
(frameshift variant)
Shwachman-Diamond syndrome 1
GLikely pathogenic
SBDS
(E99fs)
Microsatellite
(frameshift variant)
Aplastic anemia
+3 more
GPathogenic
SBDS
(E92Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SBDS
(T89S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SBDS
(I87S)
Single nucleotide variant
(missense variant)
Shwachman-Diamond syndrome 1
GUncertain significance
SBDS
Single nucleotide variant
(splice acceptor variant)
Aplastic anemia
GLikely pathogenic
SBDS
Single nucleotide variant
(intron variant)
not provided
GBenign
SBDS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SBDS
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
SBDS
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SBDS
Single nucleotide variant
(splice donor variant)
Splenomegaly
+11 more
GPathogenic/Likely pathogenic
SBDS
Single nucleotide variant
(splice donor variant)
Aplastic anemia
+3 more
GPathogenic
SBDS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
SBDS
(S73R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SBDS
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
SBDS
(K67E)
Single nucleotide variant
(missense variant)
Shwachman-Diamond syndrome 1
GUncertain significance
SBDS
(K62*)
Single nucleotide variant
(nonsense)
Intellectual disability
+8 more
GPathogenic/Likely pathogenic
SBDS
(K62*)
Indel
(nonsense)
not provided
+5 more
GPathogenic
SBDS
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
SBDS
(V58A)
Single nucleotide variant
(missense variant)
Aplastic anemia
+2 more
GUncertain significance
SBDS
(V56A)
Single nucleotide variant
(missense variant)
Shwachman-Diamond syndrome 1
GLikely pathogenic
SBDS
(H54Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SBDS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
SBDS
Deletion
(splice acceptor variant)
Aplastic anemia
GLikely pathogenic
SBDS
(E44G)
Single nucleotide variant
(missense variant)
Shwachman-Diamond syndrome 1
GUncertain significance
SBDS
Single nucleotide variant
(splice acceptor variant)
Aplastic anemia
GLikely pathogenic
SBDS
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SBDS
Single nucleotide variant
(intron variant)
Shwachman-Diamond syndrome 1
+2 more
GBenign
SBDS
Single nucleotide variant
(intron variant)
not provided
GBenign
SBDS
Single nucleotide variant
(intron variant)
not provided
GBenign
SBDS
Single nucleotide variant
(intron variant)
not provided
GBenign
SBDS
Single nucleotide variant
(intron variant)
not specified
GBenign
SBDS
Single nucleotide variant
(intron variant)
not provided
GBenign
SBDS
Single nucleotide variant
(intron variant)
not provided
GBenign
SBDS
Single nucleotide variant
(intron variant)
not provided
GBenign
SBDS
Single nucleotide variant
(intron variant)
not provided
GBenign
SBDS
Single nucleotide variant
(intron variant)
not provided
GBenign
SBDS
Single nucleotide variant
(intron variant)
Shwachman-Diamond syndrome 1
GUncertain significance
SBDS
Single nucleotide variant
(splice donor variant)
Aplastic anemia
GLikely pathogenic
SBDS
(V43L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SBDS
(S41fs)
Deletion
(frameshift variant)
Shwachman-Diamond syndrome 1
+2 more
GPathogenic
SBDS
(W39fs)
Duplication
(frameshift variant)
Aplastic anemia
GLikely pathogenic
SBDS
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
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