7061[HGNC] - ClinVar

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Items: 60

	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 146315	GRCh38/hg38 12p12.3-12.1(chr12:15840854-22021652)x1	ABCC9, AEBP2 +101 more	Copy number loss	See cases	GPathogenic
Select item 153896	GRCh38/hg38 12p12.3(chr12:15912444-16361256)x1	DERA, LOC110120934 +6 more	Copy number loss	See cases	GUncertain significance
Select item 58987	GRCh38/hg38 12p12.3(chr12:16019165-17579501)x1	DERA, LMO3 +20 more	Copy number loss	See cases	GPathogenic
Select item 153894	GRCh38/hg38 12p12.3(chr12:16281353-16499227)x1	LOC110120907, LOC124625916 +1 more	Copy number loss	See cases	GLikely benign
Select item 1693600	NM_020300.5(MGST1):c.-22-1869G>A	MGST1	Single nucleotide variant (intron variant)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 739571	NM_020300.5(MGST1):c.105A>C (p.Ala35=)	MGST1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2271055	NM_020300.5(MGST1):c.178A>G (p.Lys60Glu)	MGST1 (K29E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125989	NM_020300.5(MGST1):c.187C>G (p.Leu63Val)	MGST1 (L32V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2340978	NM_020300.5(MGST1):c.203G>A (p.Arg68Lys)	MGST1 (R68K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516153	NM_020300.5(MGST1):c.217C>T (p.Arg73Cys)	MGST1 (R66C +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3125990	NM_020300.5(MGST1):c.218G>A (p.Arg73His)	MGST1 (R42H +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1693604	NM_020300.5(MGST1):c.221+2528G>C	MGST1	Single nucleotide variant (intron variant)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 2396813	NM_020300.5(MGST1):c.263G>A (p.Gly88Glu)	MGST1 (G93E +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2245869	NM_020300.5(MGST1):c.332T>C (p.Val111Ala)	MGST1 (V104A +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2409811	NM_020300.5(MGST1):c.370C>T (p.Pro124Ser)	MGST1 (P117S +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3125991	NM_020300.5(MGST1):c.406G>A (p.Val136Ile)	MGST1 (V138I +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 3294642	NM_020300.5(MGST1):c.409G>A (p.Gly137Arg)	MGST1 (G139R +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3125992	NM_020300.5(MGST1):c.413A>G (p.Tyr138Cys)	MGST1 (Y140C +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2412135	NM_020300.5(MGST1):c.430A>G (p.Met144Val)	MGST1 (M144V +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1693601	NM_020300.5(MGST1):c.*57T>G	MGST1	Single nucleotide variant (3 prime UTR variant +2 more)	Pulmonary disease, chronic obstructive, susceptibility to	Gprotective
Select item 1693603	NM_001267598.2(MGST1):c.221+8635G>T	MGST1	Single nucleotide variant (intron variant)	Pulmonary disease, chronic obstructive, susceptibility to	Gprotective
Select item 2237133	NM_018640.5(LMO3):c.422C>T (p.Ala141Val)	LMO3, MGST1 (A163V +3 more)	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 1808563	GRCh37/hg19 12p12.3(chr12:16456165-16973987)x3	LMO3, MGST1	Copy number gain	not provided	GUncertain significance
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	FAM234B, GOLT1B +85 more	Copy number loss	not provided	GPathogenic
Select item 1527687	GRCh37/hg19 12p12.3(chr12:16495340-16580120)	MGST1	Copy number loss	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 1340531	GRCh37/hg19 12p12.3(chr12:16495091-16580120)x1	MGST1	Copy number loss	not provided	GLikely benign
Select item 815505	GRCh37/hg19 12p13.2-12.3(chr12:11737824-16780886)x1	APOLD1, ARHGDIB +37 more	Copy number loss	not provided	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 689124	GRCh37/hg19 12p12.3-11.23(chr12:16141429-27733325)x1	SMCO2, SOX5 +48 more	Copy number loss	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 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 563946	GRCh37/hg19 12p12.3(chr12:16069040-16509832)x1	MGST1, SLC15A5 +1 more	Copy number loss	not provided	GUncertain significance
Select item 563907	GRCh37/hg19 12p12.3(chr12:16416212-16550433)x1	MGST1, SLC15A5	Copy number loss	not provided	GLikely benign
Select item 563901	GRCh37/hg19 12p12.3(chr12:16495090-16580120)x1	MGST1	Copy number loss	not provided	GLikely benign
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 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: 60