CALB2[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 148810	GRCh38/hg38 16q22.1-22.2(chr16:69918076-71541872)x3	AARS1, CALB2 +84 more	Copy number gain	See cases	GUncertain significance
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 1707463	Single allele	AP1G1, CALB2 +36 more	Duplication	not specified	GUncertain significance
Select item 59995	GRCh38/hg38 16q22.2-22.3(chr16:71279916-73246687)x3	AP1G1, ATXN1L +99 more	Copy number gain	See cases	GUncertain significance
Select item 2302863	NM_001740.5(CALB2):c.119A>G (p.Glu40Gly)	CALB2 (E40G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607510	NM_001740.5(CALB2):c.283G>C (p.Glu95Gln)	CALB2 (E95Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561921	NM_001740.5(CALB2):c.288G>C (p.Glu96Asp)	CALB2 (E96D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136633	NM_001740.5(CALB2):c.386C>T (p.Ala129Val)	CALB2 (A129V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300144	NM_001740.5(CALB2):c.412G>C (p.Asp138His)	CALB2 (D138H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598784	NM_001740.5(CALB2):c.419T>C (p.Leu140Pro)	CALB2 (L140P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136634	NM_001740.5(CALB2):c.437C>G (p.Pro146Arg)	CALB2 (P146R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457513	NM_001740.5(CALB2):c.499G>A (p.Gly167Arg)	CALB2 (G167R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395782	NM_001740.5(CALB2):c.548A>G (p.Gln183Arg)	CALB2 (Q183R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136635	NM_001740.5(CALB2):c.550G>A (p.Glu184Lys)	CALB2 (E184K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548900	NM_001740.5(CALB2):c.575G>A (p.Gly192Asp)	CALB2 (G192D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2613589	NM_001740.5(CALB2):c.630T>C (p.Asp210=)	CALB2 (I179T)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3136636	NM_001740.5(CALB2):c.636C>T (p.Ser212=)	CALB2 (A181V)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2533013	NM_001740.5(CALB2):c.644T>C (p.Ile215Thr)	CALB2 (I215T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3136637	NM_001740.5(CALB2):c.739G>A (p.Val247Ile)	CALB2 (V247I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2621259	NM_001740.5(CALB2):c.749T>C (p.Leu250Ser)	CALB2 (L250S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3136638	NM_001740.5(CALB2):c.788T>C (p.Ile263Thr)	CALB2 (I263T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3243655	NC_000016.9:g.(?_70286624)_(72146396_?)del	COG4, AARS1 +27 more	Deletion	not provided	GPathogenic
Select item 3243300	NC_000016.9:g.(?_68679283)_(72146396_?)del	AARS1, AP1G1 +51 more	Deletion	Immunodeficiency	GUncertain significance
Select item 2685575	GRCh37/hg19 16q22.1-22.3(chr16:69709450-73535741)x1	AARS1, AP1G1 +40 more	Copy number loss	not provided	GPathogenic
Select item 2684814	GRCh37/hg19 16q22.2(chr16:70823633-71541641)x3	CALB2, CMTR2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 2684811	GRCh37/hg19 16q22.1-22.2(chr16:70179556-71750471)x3	AARS1, CALB2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1809139	GRCh37/hg19 16q22.2(chr16:71422334-72110927)x4	AP1G1, ATXN1L +13 more	Copy number gain	not provided	GUncertain significance
Select item 1706519	GRCh37/hg19 16q22.1-23.1(chr16:68971067-74823560)x1	TXNL4B, UTP4 +59 more	Copy number loss	See cases	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1441673	NC_000016.9:g.(?_69680960)_(72146396_?)dup	AARS1, AP1G1 +37 more	Duplication	Immunodeficiency	GUncertain significance
Select item 980689	GRCh37/hg19 16q22.2(chr16:71349282-71421733)x1	CALB2	Copy number loss	not provided	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815826	GRCh37/hg19 16q22.2(chr16:71391112-71591834)x1	ZNF23, CHST4 +2 more	Copy number loss	not provided	GUncertain significance
Select item 687301	GRCh37/hg19 16q22.1-22.2(chr16:70467293-71560136)x3	CALB2, CHST4 +11 more	Copy number gain	not provided	GUncertain significance
Select item 564338	GRCh37/hg19 16q22.1-22.2(chr16:70646969-72849701)x1	CMTR2, IST1 +22 more	Copy number loss	not provided	GLikely pathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 221525	GRCh37/hg19 16q22.2(chr16:71103288-72092204)x1	AP1G1, ATXN1L +14 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 60