C4692625[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21543	NM_016038.4(SBDS):c.635T>C (p.Ile212Thr)	SBDS (I212T)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1 +3 more	GBenign/Likely benign
Select item 21541	NM_016038.4(SBDS):c.505C>T (p.Arg169Cys)	SBDS (R169C)	Single nucleotide variant (missense variant)	Aplastic anemia +2 more	GConflicting classifications of pathogenicity
Select item 549502	NM_016038.4(SBDS):c.260T>G (p.Ile87Ser)	SBDS (I87S)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1	GUncertain significance
Select item 549500	NM_016038.4(SBDS):c.199A>G (p.Lys67Glu)	SBDS (K67E)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1	GUncertain significance
Select item 549499	NM_016038.4(SBDS):c.131A>G (p.Glu44Gly)	SBDS (E44G)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1	GUncertain significance
Select item 3197	NM_016038.4(SBDS):c.24C>A (p.Asn8Lys)	SBDS (N8K)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1	GUncertain significance

ClinVar