CALCB[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	BMAL1, BTBD10 +208 more	Copy number loss	See cases	GPathogenic
Select item 146351	GRCh38/hg38 11p15.2(chr11:14619894-15179026)x3	LOC130005370, LOC130005371 +14 more	Copy number gain	See cases	GUncertain significance
Select item 154135	GRCh38/hg38 11p15.2(chr11:14684722-15210307)x3	CALCA, CALCB +13 more	Copy number gain	See cases	GUncertain significance
Select item 151351	GRCh38/hg38 11p15.2(chr11:14914381-15240180)x3	CALCA, CALCB +7 more	Copy number gain	See cases	GLikely benign
Select item 57954	GRCh38/hg38 11p15.2(chr11:14924804-15253488)x3	CALCA, CALCB +7 more	Copy number gain	See cases	GUncertain significance
Select item 2495067	NM_000728.4(CALCB):c.71A>G (p.Gln24Arg)	CALCB (Q24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136642	NM_000728.4(CALCB):c.102C>G (p.Ser34Arg)	CALCB, LOC130005375 (S34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262945	NM_000728.4(CALCB):c.111C>G (p.Asp37Glu)	LOC130005375, CALCB (D37E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389676	NM_000728.4(CALCB):c.113C>T (p.Pro38Leu)	CALCB, LOC130005375 (P38L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353232	NM_000728.4(CALCB):c.132G>T (p.Glu44Asp)	CALCB (E44D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136643	NM_000728.4(CALCB):c.136G>A (p.Ala46Thr)	CALCB (A46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383139	NM_000728.4(CALCB):c.198G>C (p.Lys66Asn)	CALCB (K66N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262948	NM_000728.4(CALCB):c.206A>C (p.Gln69Pro)	CALCB (Q69P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360328	NM_000728.4(CALCB):c.214C>A (p.Gln72Lys)	CALCB (Q72K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325148	NM_000728.4(CALCB):c.217G>A (p.Gly73Ser)	CALCB (G73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136644	NM_000728.4(CALCB):c.230C>G (p.Ala77Gly)	CALCB (A77G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410688	NM_000728.4(CALCB):c.274C>T (p.Arg92Trp)	CALCB (R92W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136645	NM_000728.4(CALCB):c.338T>G (p.Val113Gly)	CALCB (V113G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262944	NM_000728.4(CALCB):c.352T>G (p.Phe118Val)	CALCB (F118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262949	NM_000728.4(CALCB):c.362G>A (p.Arg121His)	CALCB (R121H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136646	NM_000728.4(CALCB):c.380C>A (p.Ala127Asp)	CALCB (A127D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815412	GRCh37/hg19 11p15.2(chr11:14938595-15277484)x3	CALCB, CALCA +1 more	Copy number gain	not provided	GUncertain significance
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	LDHA, SLC5A12 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 442407	GRCh37/hg19 11p15.2(chr11:14460052-15556068)x3	CALCA, CALCB +5 more	Copy number gain	See cases	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic

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Items: 35