51267[geneid] - ClinVar

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Items: 55

	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	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 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 2278074	NM_016511.4(CLEC1A):c.827T>C (p.Leu276Ser)	CLEC1A (L188S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2394335	NM_016511.4(CLEC1A):c.761G>A (p.Arg254His)	CLEC1A (R221H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542412	NM_016511.4(CLEC1A):c.692C>T (p.Pro231Leu)	CLEC1A (P143L +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2325428	NM_016511.4(CLEC1A):c.549T>G (p.Phe183Leu)	CLEC1A (F91L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370821	NM_016511.4(CLEC1A):c.481T>A (p.Cys161Ser)	CLEC1A (C161S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145633	NM_016511.4(CLEC1A):c.376T>C (p.Tyr126His)	CLEC1A (Y93H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277561	NM_016511.4(CLEC1A):c.268G>C (p.Glu90Gln)	CLEC1A (E2Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621454	NM_016511.4(CLEC1A):c.178G>T (p.Val60Leu)	CLEC1A (V60L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2460665	NM_016511.4(CLEC1A):c.178G>A (p.Val60Met)	CLEC1A (V60M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2594625	NM_016511.4(CLEC1A):c.171G>C (p.Leu57Phe)	CLEC1A (L57F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1049756	NM_016511.4(CLEC1A):c.155T>C (p.Leu52Pro)	CLEC1A (L52P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2461534	NM_016511.4(CLEC1A):c.124G>A (p.Ala42Thr)	CLEC1A (A42T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2205141	NM_016511.4(CLEC1A):c.95A>G (p.His32Arg)	CLEC1A (H32R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2393285	NM_016511.4(CLEC1A):c.91C>T (p.Arg31Trp)	CLEC1A (R31W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 590287	NM_016511.4(CLEC1A):c.77G>C (p.Gly26Ala)	CLEC1A (G26A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2220919	NM_016511.4(CLEC1A):c.52A>G (p.Thr18Ala)	CLEC1A (T18A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145634	NM_016511.4(CLEC1A):c.49G>T (p.Asp17Tyr)	CLEC1A (D17Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283676	NM_016511.4(CLEC1A):c.30C>G (p.Asp10Glu)	CLEC1A (D10E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398888	NM_016511.4(CLEC1A):c.16A>G (p.Ser6Gly)	CLEC1A (S6G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063258	GRCh37/hg19 12p13.2(chr12:10183315-10370767)x3	CLEC1A, CLEC7A +4 more	Copy number gain	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 979951	GRCh37/hg19 12p13.2(chr12:10204668-10277568)x1	CLEC7A, CLEC9A +1 more	Copy number loss	not provided	GUncertain significance
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 394044	GRCh37/hg19 12p13.2(chr12:10183511-10373521)x3	CLEC1A, CLEC7A +4 more	Copy number gain	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 221369	chr12:10074776-18800953 complex variant	APOLD1, ARHGDIB +79 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 55