ClinVar for Gene (Select 796) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3136641	NM_001741.3(CALCA):c.52T>A (p.Leu18Met)	CALCA (L18M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136640	NM_001033953.3(CALCA):c.367C>T (p.Arg123Cys)	CALCA (R123C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136639	NM_001033953.3(CALCA):c.278G>A (p.Arg93Gln)	CALCA (R93Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607511	NM_001033953.3(CALCA):c.375C>A (p.Asp125Glu)	CALCA (D125E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538242	NM_001741.3(CALCA):c.334G>T (p.Gly112Trp)	CALCA (G112W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2492482	NM_001033953.3(CALCA):c.272C>A (p.Thr91Asn)	CALCA (T91N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350344	NM_001033953.3(CALCA):c.277C>T (p.Arg93Trp)	CALCA (R93W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345396	NM_001741.3(CALCA):c.122C>T (p.Thr41Met)	CALCA (T41M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222232	NM_001741.3(CALCA):c.31G>A (p.Ala11Thr)	CALCA (A11T)	Single nucleotide variant (missense variant +1 more)	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 785341	NM_001741.3(CALCA):c.318C>T (p.Phe106=)	CALCA	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 768429	NM_001741.3(CALCA):c.378G>A (p.Leu126=)	CALCA	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
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
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 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 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 57954	GRCh38/hg38 11p15.2(chr11:14924804-15253488)x3	CALCA, CALCB +7 more	Copy number gain	See cases	GUncertain significance
Select item 17637	NM_001033953.3(CALCA):c.228-215=	CALCA	Single nucleotide variant (intron variant)	Calcitonin polymorphism	GBenign

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Links from Gene

Items: 31