CLEC1B[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 2406783	NM_016509.4(CLEC1B):c.665T>A (p.Met222Lys)	CLEC12A, CLEC1B (M222K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488832	NM_016509.4(CLEC1B):c.575A>T (p.Asn192Ile)	CLEC12A, CLEC1B (N159I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145648	NM_016509.4(CLEC1B):c.566G>C (p.Gly189Ala)	CLEC12A, CLEC1B (G189A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235779	NM_016509.4(CLEC1B):c.509G>C (p.Trp170Ser)	CLEC12A, CLEC1B (W137S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229921	NM_016509.4(CLEC1B):c.402T>G (p.Asn134Lys)	CLEC12A, CLEC1B (N101K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145647	NM_016509.4(CLEC1B):c.379A>G (p.Lys127Glu)	CLEC12A, CLEC1B (K127E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286219	NM_016509.4(CLEC1B):c.359A>G (p.Asn120Ser)	CLEC12A, CLEC1B (N87S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145646	NM_016509.4(CLEC1B):c.353G>C (p.Arg118Thr)	CLEC12A, CLEC1B (R118T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145645	NM_016509.4(CLEC1B):c.341A>T (p.Tyr114Phe)	CLEC12A, CLEC1B (Y114F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145644	NM_016509.4(CLEC1B):c.320G>A (p.Arg107Lys)	CLEC12A, CLEC1B (R107K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599083	NM_016509.4(CLEC1B):c.286G>T (p.Gly96Cys)	CLEC12A, CLEC1B (G63C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267678	NM_016509.4(CLEC1B):c.250G>C (p.Val84Leu)	CLEC12A, CLEC1B (V51L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2294999	NM_016509.4(CLEC1B):c.241T>A (p.Cys81Ser)	CLEC12A, CLEC1B (C48S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145643	NM_016509.4(CLEC1B):c.236G>T (p.Arg79Leu)	CLEC12A, CLEC1B (R46L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352509	NM_016509.4(CLEC1B):c.236G>A (p.Arg79His)	CLEC12A, CLEC1B (R79H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145642	NM_016509.4(CLEC1B):c.228A>T (p.Leu76Phe)	CLEC12A, CLEC1B (L43F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145641	NM_016509.4(CLEC1B):c.223C>G (p.Gln75Glu)	CLEC12A, CLEC1B (Q42E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145640	NM_016509.4(CLEC1B):c.208A>G (p.Thr70Ala)	CLEC12A, CLEC1B (T70A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495040	NM_016509.4(CLEC1B):c.205C>G (p.Arg69Gly)	CLEC12A, CLEC1B (R36G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145639	NM_016509.4(CLEC1B):c.194A>G (p.Glu65Gly)	CLEC12A, CLEC1B (E32G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301786	NM_016509.4(CLEC1B):c.187C>A (p.Gln63Lys)	CLEC12A, CLEC1B (Q63K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267680	NM_016509.4(CLEC1B):c.184C>G (p.Leu62Val)	CLEC12A, CLEC1B (L29V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318094	NM_016509.4(CLEC1B):c.181T>C (p.Tyr61His)	CLEC12A, CLEC1B (Y61H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366472	NM_016509.4(CLEC1B):c.136G>T (p.Val46Phe)	CLEC12A, CLEC1B (V46F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145637	NM_016509.4(CLEC1B):c.128G>T (p.Gly43Val)	CLEC12A, CLEC1B (G43V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145636	NM_016509.4(CLEC1B):c.100G>C (p.Ala34Pro)	CLEC12A, CLEC1B (A34P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555809	NM_016509.4(CLEC1B):c.100G>T (p.Ala34Ser)	CLEC12A, CLEC1B (A34S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267679	NM_016509.4(CLEC1B):c.91C>T (p.Arg31Cys)	CLEC12A, CLEC1B (R31C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145649	NM_016509.4(CLEC1B):c.77C>T (p.Ser26Phe)	CLEC12A, CLEC1B (S26F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1808562	GRCh37/hg19 12p13.31-13.2(chr12:10049346-10322120)x3	CLEC12A, CLEC12B +6 more	Copy number gain	not provided	GUncertain significance
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 221369	chr12:10074776-18800953 complex variant	APOLD1, ARHGDIB +79 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 62