ClinVar for Gene (Select 4257) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
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 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 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 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 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 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 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 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	C12orf60, YBX3 +85 more	Copy number loss	not provided	GPathogenic
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 1693603	NM_001267598.2(MGST1):c.221+8635G>T	MGST1	Single nucleotide variant (intron variant)	Pulmonary disease, chronic obstructive, susceptibility to	Gprotective
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 1693600	NM_020300.5(MGST1):c.-22-1869G>A	MGST1	Single nucleotide variant (intron variant)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
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 739571	NM_020300.5(MGST1):c.105A>C (p.Ala35=)	MGST1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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
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 153896	GRCh38/hg38 12p12.3(chr12:15912444-16361256)x1	DERA, LOC110120934 +6 more	Copy number loss	See cases	GUncertain significance
Select item 153894	GRCh38/hg38 12p12.3(chr12:16281353-16499227)x1	LOC110120907, LOC124625916 +1 more	Copy number loss	See cases	GLikely benign
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 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 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 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 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
Select item 58987	GRCh38/hg38 12p12.3(chr12:16019165-17579501)x1	DERA, LMO3 +20 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 60