CLEC4E[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
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 152638	GRCh38/hg38 12p13.31(chr12:8455575-8623334)x1	AICDA, CLEC4D +3 more	Copy number loss	See cases	GLikely benign
Select item 3145693	NM_014358.4(CLEC4E):c.642C>A (p.Asn214Lys)	CLEC4E (N214K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267696	NM_014358.4(CLEC4E):c.599A>G (p.Asn200Ser)	CLEC4E (N155S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3145692	NM_014358.4(CLEC4E):c.566G>A (p.Arg189Lys)	CLEC4E (R189K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360689	NM_014358.4(CLEC4E):c.499G>A (p.Val167Ile)	CLEC4E (V122I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145690	NM_014358.4(CLEC4E):c.463G>A (p.Gly155Ser)	CLEC4E (G110S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145689	NM_014358.4(CLEC4E):c.443G>T (p.Gly148Val)	CLEC4E (G148V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145688	NM_014358.4(CLEC4E):c.416T>C (p.Ile139Thr)	CLEC4E (I139T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145687	NM_014358.4(CLEC4E):c.305C>A (p.Ala102Glu)	CLEC4E (A102E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459221	NM_014358.4(CLEC4E):c.305C>T (p.Ala102Val)	CLEC4E (A102V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145686	NM_014358.4(CLEC4E):c.286A>G (p.Thr96Ala)	CLEC4E (T96A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145685	NM_014358.4(CLEC4E):c.245T>C (p.Leu82Ser)	CLEC4E (L82S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2599396	NM_014358.4(CLEC4E):c.173A>G (p.Gln58Arg)	CLEC4E (Q58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145684	NM_014358.4(CLEC4E):c.155G>A (p.Cys52Tyr)	CLEC4E (C52Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145683	NM_014358.4(CLEC4E):c.142A>G (p.Ile48Val)	CLEC4E (I48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270056	NM_014358.4(CLEC4E):c.4A>C (p.Asn2His)	CLEC4E (N2H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244256	NC_000012.11:g.(?_7053285)_(9027607_?)del	A2ML1, ACSM4 +35 more	Deletion	Peroxisome biogenesis disorder 2B +1 more	GPathogenic
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 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	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 1473612	NC_000012.11:g.(?_6438478)_(8756953_?)dup	ACRBP, ACSM4 +64 more	Duplication	not provided	GUncertain significance
Select item 1373618	NC_000012.11:g.(?_6978008)_(9010204_?)dup	C12orf57, ATN1 +40 more	Duplication	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 1004385	NC_000012.11:g.(?_6945914)_(9027627_?)dup	C1RL, C1S +44 more	Duplication	Klippel-Feil syndrome 3, autosomal dominant	GUncertain significance
Select item 831306	NC_000012.12:g.(?_8456112)_(8612767_?)del	AICDA, CLEC4D +2 more	Deletion	Hyper-IgM syndrome type 2	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 394074	GRCh37/hg19 12p13.31(chr12:8608171-8765397)	AICDA, CLEC4D +2 more	Copy number loss	See cases	GUncertain significance
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

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Items: 55