ClinVar for Gene (Select 338339) - ClinVar

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Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267695	NM_080387.5(CLEC4D):c.614G>C (p.Arg205Thr)	CLEC4D (R205T)	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 3145682	NM_080387.5(CLEC4D):c.510T>A (p.His170Gln)	CLEC4D (H170Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145681	NM_080387.5(CLEC4D):c.509A>G (p.His170Arg)	CLEC4D (H170R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145680	NM_080387.5(CLEC4D):c.458A>G (p.Gln153Arg)	CLEC4D (Q153R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145679	NM_080387.5(CLEC4D):c.412C>T (p.Arg138Trp)	CLEC4D (R138W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145677	NM_080387.5(CLEC4D):c.376G>A (p.Ala126Thr)	CLEC4D (A126T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145676	NM_080387.5(CLEC4D):c.311C>T (p.Thr104Met)	CLEC4D (T104M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145675	NM_080387.5(CLEC4D):c.199A>G (p.Ile67Val)	CLEC4D (I67V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145674	NM_080387.5(CLEC4D):c.170A>G (p.Lys57Arg)	CLEC4D (K57R)	Single nucleotide variant (missense variant)	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 2597292	NM_080387.5(CLEC4D):c.218T>C (p.Leu73Pro)	CLEC4D (L73P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590631	NM_080387.5(CLEC4D):c.616A>G (p.Ile206Val)	CLEC4D (I206V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530244	NM_080387.5(CLEC4D):c.137T>C (p.Phe46Ser)	CLEC4D (F46S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522712	NM_080387.5(CLEC4D):c.293C>A (p.Pro98His)	CLEC4D (P98H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489199	NM_080387.5(CLEC4D):c.197G>T (p.Cys66Phe)	CLEC4D (C66F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466403	NM_080387.5(CLEC4D):c.247T>G (p.Cys83Gly)	CLEC4D (C83G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2375806	NM_080387.5(CLEC4D):c.602T>C (p.Phe201Ser)	CLEC4D (F201S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2250919	NM_080387.5(CLEC4D):c.479C>T (p.Thr160Met)	CLEC4D (T160M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2240494	NM_080387.5(CLEC4D):c.330G>C (p.Arg110Ser)	CLEC4D (R110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213708	NM_080387.5(CLEC4D):c.110C>A (p.Ala37Glu)	CLEC4D (A37E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211727	NM_080387.5(CLEC4D):c.596G>T (p.Cys199Phe)	CLEC4D (C199F)	Single nucleotide variant (missense variant)	not specified	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 1285021	NM_080387.5(CLEC4D):c.177G>A (p.Glu59=)	CLEC4D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
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 402542	NM_080387.5(CLEC4D):c.94A>G (p.Ser32Gly)	CLEC4D (S32G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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
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 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 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 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 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 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 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 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 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 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

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Links from Gene

Items: 62