"Ambry Genetics"[submitter] AND "CALN1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2410897	NM_031468.4(CALN1):c.694C>T (p.Arg232Trp)	CALN1 (R232W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219375	NM_031468.4(CALN1):c.602A>G (p.Asn201Ser)	CALN1 (N201S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336869	NM_031468.4(CALN1):c.548A>C (p.Tyr183Ser)	CALN1 (Y141S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136754	NM_031468.4(CALN1):c.454G>A (p.Gly152Ser)	CALN1 (G110S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262994	NM_031468.4(CALN1):c.418A>C (p.Met140Leu)	CALN1 (M140L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136753	NM_031468.4(CALN1):c.302A>C (p.Gln101Pro)	CALN1 (Q59P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541750	NM_031468.4(CALN1):c.205A>G (p.Ser69Gly)	CALN1 (S27G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454652	NM_031468.4(CALN1):c.151G>A (p.Gly51Ser)	CALN1 (G51S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544150	NM_031468.4(CALN1):c.149C>T (p.Ala50Val)	CALN1 (A8V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257558	NM_031468.4(CALN1):c.86C>T (p.Pro29Leu)	CALN1 (P29L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance