ClinVar for MedGen (Select 224851) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 449095	NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)	SBDS (K62*)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 267925	46;XX;t(1;2)(q42.3;q24.2)dn		Translocation	Inversion of nipple +13 more	GUncertain significance
Select item 3196	NM_016038.4(SBDS):c.258+2T>C	SBDS	Single nucleotide variant (splice donor variant)	Shwachman-Diamond syndrome 1 +11 more	GPathogenic/Likely pathogenic

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