Related gene-specific medical variations for Gene (Select 811) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065752	NM_004343.4(CALR):c.1154_1155insTGTCG (p.Lys385fs)	CALR (K385fs)	Insertion (frameshift variant)	Primary myelofibrosis	GUncertain significance
Select item 3051119	NM_004343.4(CALR):c.817-4G>T	CALR, LOC126862861	Single nucleotide variant (intron variant)	CALR-related condition	GLikely benign
Select item 3046043	NM_004343.4(CALR):c.566G>C (p.Ser189Thr)	CALR, LOC126862861 (S189T)	Single nucleotide variant (missense variant)	CALR-related condition	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 condition	GLikely benign
Select item 2649360	NM_004343.4(CALR):c.682C>T (p.Pro228Ser)	CALR, LOC126862861 (P228S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2549201	NM_004343.4(CALR):c.50C>G (p.Ala17Gly)	CALR, LOC117125596 (A17G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525549	NM_004343.4(CALR):c.50C>T (p.Ala17Val)	CALR, LOC117125596 (A17V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401105	NM_004343.4(CALR):c.836A>G (p.Gln279Arg)	CALR, LOC126862861 (Q279R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381152	NM_004343.4(CALR):c.647C>T (p.Pro216Leu)	CALR, LOC126862861 (P216L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311966	NM_004343.4(CALR):c.586T>G (p.Leu196Val)	CALR, LOC126862861 (L196V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302004	NM_004343.4(CALR):c.88G>C (p.Gly30Arg)	CALR, LOC117125596 (G30R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248994	NM_004343.4(CALR):c.536A>G (p.Asp179Gly)	CALR, LOC126862861 (D179G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233331	NM_004343.4(CALR):c.817G>C (p.Gly273Arg)	CALR, LOC126862861 (G273R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1707162	NM_004343.4(CALR):c.398-157C>G	CALR, LOC126862861	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290353	NM_004343.4(CALR):c.-21T>C	CALR, LOC117125596	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1269519	NM_004343.4(CALR):c.-4C>T	CALR, LOC117125596	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1268130	NM_004343.4(CALR):c.960+128C>T	CALR, LOC126862861	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 785826	NM_004343.4(CALR):c.750C>G (p.Pro250=)	CALR, LOC126862861	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 784388	NM_004343.4(CALR):c.817-9C>T	CALR, LOC126862861	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 741199	NM_004343.4(CALR):c.507A>T (p.Thr169=)	CALR, LOC126862861	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 708616	NM_004343.4(CALR):c.606C>T (p.Phe202=)	CALR, LOC126862861	Single nucleotide variant (synonymous variant)	not provided	GBenign

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Links from Gene

Items: 21