"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "SBDS"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1758559	NM_016038.4(SBDS):c.736G>A (p.Asp246Asn)	SBDS (D246N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1163279	NM_016038.4(SBDS):c.664G>C (p.Glu222Gln)	SBDS (E222Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372498	NM_016038.4(SBDS):c.388G>A (p.Val130Met)	SBDS (V130M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3381023	NM_016038.4(SBDS):c.259-2A>G	SBDS	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3196	NM_016038.4(SBDS):c.258+2T>C	SBDS	Single nucleotide variant (splice donor variant)	SBDS-related disorder +11 more	GPathogenic/Likely pathogenic
Select item 3195	NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)	SBDS (K62*)	Indel (nonsense)	Shwachman syndrome +4 more	GPathogenic
Select item 378498	NM_016038.4(SBDS):c.127G>T (p.Val43Leu)	SBDS (V43L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity

ClinVar