4973[Gene ID] - ClinVar

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Items: 56

	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 6995	NM_002543.4(OLR1):c.*188=	OLR1	Single nucleotide variant (no sequence alteration)	Myocardial infarction, susceptibility to	Grisk factor
Select item 3204291	NM_002543.4(OLR1):c.758C>T (p.Ala253Val)	OLR1 (A253V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2642699	NM_002543.4(OLR1):c.714C>T (p.Tyr238=)	OLR1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2315549	NM_002543.4(OLR1):c.677A>G (p.His226Arg)	OLR1 (H226R)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3046893	NM_002543.4(OLR1):c.582A>T (p.Ala194=)	OLR1 (N148Y)	Single nucleotide variant (missense variant +2 more)	OLR1-related disorder	GLikely benign
Select item 1227465	NM_002543.4(OLR1):c.565-73C>T	OLR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 6994	NM_002543.4(OLR1):c.501G>C (p.Lys167Asn)	OLR1 (K167N)	Single nucleotide variant (missense variant +1 more)	Myocardial infarction, susceptibility to +1 more	GBenign; risk factor
Select item 2232529	NM_002543.4(OLR1):c.490A>G (p.Asn164Asp)	OLR1 (N164D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548361	NM_002543.4(OLR1):c.428C>T (p.Pro143Leu)	OLR1 (P143L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3033267	NM_002543.4(OLR1):c.424+9A>G	OLR1	Single nucleotide variant (intron variant)	OLR1-related disorder	GLikely benign
Select item 3204290	NM_002543.4(OLR1):c.403A>G (p.Lys135Glu)	OLR1 (K135E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354648	NM_002543.4(OLR1):c.341A>G (p.Asn114Ser)	OLR1 (N114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527521	NM_002543.4(OLR1):c.317T>C (p.Ile106Thr)	OLR1 (I106T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510279	NM_002543.4(OLR1):c.310G>A (p.Glu104Lys)	OLR1 (E104K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204289	NM_002543.4(OLR1):c.307A>G (p.Lys103Glu)	OLR1 (K103E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232056	NM_002543.4(OLR1):c.260C>T (p.Ala87Val)	OLR1 (A87V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302303	NM_002543.4(OLR1):c.109C>A (p.Leu37Met)	OLR1 (L37M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204292	NM_002543.4(OLR1):c.95C>G (p.Ser32Cys)	OLR1 (S32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302302	NM_002543.4(OLR1):c.89T>C (p.Leu30Pro)	OLR1 (L30P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475528	NM_002543.4(OLR1):c.83A>G (p.Gln28Arg)	OLR1 (Q28R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2263916	NM_002543.4(OLR1):c.44C>T (p.Pro15Leu)	OLR1, TMEM52B (P15L)	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 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: 56