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Links from MedGen

Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SBDS
Single nucleotide variant
(intron variant)
Shwachman-Diamond syndrome 1
GUncertain significance
SBDS
Deletion
(splice acceptor variant +1 more)
Shwachman-Diamond syndrome 1
GPathogenic
SBDS
Deletion
Shwachman-Diamond syndrome 1
GPathogenic
SBDS
(N181D)
Single nucleotide variant
(missense variant)
Shwachman-Diamond syndrome 1
GUncertain significance
SBDS
(Q152fs)
Duplication
(frameshift variant)
Aplastic anemia
+1 more
GLikely pathogenic
SBDS
(Q160*)
Single nucleotide variant
(nonsense)
Shwachman-Diamond syndrome 1
GLikely pathogenic
SBDS
(V58A)
Single nucleotide variant
(missense variant)
Shwachman-Diamond syndrome 1
+2 more
GUncertain significance
SBDS
(C210Y)
Single nucleotide variant
(missense variant)
Shwachman-Diamond syndrome 1
GLikely pathogenic
DNAJC21
(E428K)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
SBDS
(R218Q)
Single nucleotide variant
(missense variant)
Shwachman-Diamond syndrome 1
+1 more
GLikely pathogenic
SBDS
(R109T)
Single nucleotide variant
(missense variant)
Shwachman-Diamond syndrome 1
GUncertain significance
SBDS
(T102fs)
Microsatellite
(frameshift variant)
Shwachman-Diamond syndrome 1
GLikely pathogenic
DNAJC21
(K456fs +2 more)
Deletion
(frameshift variant)
Shwachman-Diamond syndrome 1
+2 more
GUncertain significance
SRP54
Deletion
(intron variant)
Neutropenia, severe congenital, 8, autosomal dominant
+2 more
GBenign/Likely benign
DNAJC21
(R339Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SRP54
Single nucleotide variant
(synonymous variant)
Neutropenia, severe congenital, 8, autosomal dominant
+3 more
GBenign/Likely benign
SBDS
Deletion
Shwachman-Diamond syndrome 1
GPathogenic
SBDS
Single nucleotide variant
(splice acceptor variant)
Inborn genetic diseases
GPathogenic
SRPRA
(Q436E +1 more)
Single nucleotide variant
(missense variant)
Shwachman-Diamond syndrome 1
+1 more
GPathogenic
SRP19
Single nucleotide variant
(intron variant)
Shwachman-Diamond syndrome 1
+1 more
GPathogenic
SBDS
(T7fs)
Deletion
(frameshift variant)
Shwachman-Diamond syndrome 1
+1 more
GPathogenic
SBDS
(V56A)
Single nucleotide variant
(missense variant)
Shwachman-Diamond syndrome 1
GLikely pathogenic
DNAJC21
(R274Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
SBDS
(I87S)
Single nucleotide variant
(missense variant)
Shwachman-Diamond syndrome 1
GUncertain significance
SBDS
(K67E)
Single nucleotide variant
(missense variant)
Shwachman-Diamond syndrome 1
GUncertain significance
SBDS
(E44G)
Single nucleotide variant
(missense variant)
Shwachman-Diamond syndrome 1
GUncertain significance
SBDS
(K62*)
Single nucleotide variant
(nonsense)
not provided
+7 more
GPathogenic/Likely pathogenic
SBDS
(T5fs)
Deletion
(frameshift variant)
Shwachman-Diamond syndrome 1
+2 more
GPathogenic
SBDS
Single nucleotide variant
(intron variant)
Shwachman-Diamond syndrome 1
+2 more
GBenign
SRP54
(T117del +1 more)
Microsatellite
(inframe_deletion)
Neutropenia, severe congenital, 8, autosomal dominant
+1 more
GPathogenic/Likely pathogenic
SRP54
(T115A +1 more)
Single nucleotide variant
(missense variant)
Neutropenia, severe congenital, 8, autosomal dominant
+1 more
GPathogenic
SRP54
(G226E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
SBDS
(R175W)
Single nucleotide variant
(missense variant)
Aplastic anemia
+2 more
GConflicting classifications of pathogenicity
SBDS
(V130M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SBDS
(S41fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
SBDS
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
DNAJC21
Single nucleotide variant
(splice donor variant)
Bone marrow failure syndrome 3
+2 more
GConflicting classifications of pathogenicity
SBDS
(K33T)
Single nucleotide variant
(missense variant)
Aplastic anemia
+1 more
GPathogenic/Likely pathogenic
SBDS
(R218*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
SBDS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
SBDS
(I212T)
Single nucleotide variant
(missense variant)
Shwachman-Diamond syndrome 1
+3 more
GBenign/Likely benign
SBDS
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
SBDS
(R169C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SBDS
(R126T)
Single nucleotide variant
(missense variant)
Shwachman-Diamond syndrome 1
Gnot provided
SBDS
(E99fs)
Microsatellite
(frameshift variant)
Aplastic anemia
+2 more
GPathogenic
SBDS
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
+3 more
GPathogenic
SBDS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
SBDS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
SBDS
(N34fs)
Duplication
(frameshift variant)
Shwachman-Diamond syndrome 1
GPathogenic
SBDS
(N8K)
Single nucleotide variant
(missense variant)
Shwachman-Diamond syndrome 1
GUncertain significance
SBDS
Single nucleotide variant
(splice donor variant)
Shwachman syndrome
+11 more
GPathogenic/Likely pathogenic
SBDS
(K62*)
Indel
(nonsense)
Aplastic anemia
+3 more
GPathogenic
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