"CALR-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3048325	NC_000019.10:g.12938397C>A	CALR, LOC117125596	Single nucleotide variant	CALR-related disorder	GLikely benign
Select item 741199	NM_004343.4(CALR):c.507A>T (p.Thr169=)	CALR, LOC126862861	Single nucleotide variant (synonymous variant)	CALR-related disorder +1 more	GLikely benign
Select item 3046043	NM_004343.4(CALR):c.566G>C (p.Ser189Thr)	CALR, LOC126862861 (S189T)	Single nucleotide variant (missense variant)	CALR-related disorder	GLikely benign
Select item 3036651	NM_004343.4(CALR):c.703-3del	CALR, LOC126862861 +1 more	Deletion (non-coding transcript variant +1 more)	CALR-related disorder	GLikely benign
Select item 3051119	NM_004343.4(CALR):c.817-4G>T	CALR, LOC126862861	Single nucleotide variant (intron variant)	CALR-related disorder	GLikely benign
Select item 3032277	NM_004343.4(CALR):c.1194GGA[1] (p.Glu399del)	CALR (E399del)	Microsatellite (inframe_indel +1 more)	CALR-related disorder	GUncertain significance

ClinVar