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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SBDS
(R218*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
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)
not provided
+3 more
GPathogenic
SBDS
Single nucleotide variant
(splice donor variant)
SBDS-related condition
+11 more
GPathogenic/Likely pathogenic
SBDS
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
+3 more
GPathogenic
SBDS
(K62*)
Indel
(nonsense)
SBDS-related condition
+4 more
GPathogenic
SBDS
(S41fs)
Deletion
(frameshift variant)
Shwachman-Diamond syndrome 1
+2 more
GPathogenic
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
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