GSG1[gene] - ClinVar

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Items: 76

	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 154815	GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1	APOLD1, ARHGDIB +238 more	Copy number loss	See cases	GLikely pathogenic
Select item 57166	GRCh38/hg38 12p13.2-13.1(chr12:11771233-13547775)x1	APOLD1, BCL2L14 +121 more	Copy number loss	See cases	GPathogenic
Select item 146005	GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1	APOLD1, ARHGDIB +137 more	Copy number loss	See cases	GPathogenic
Select item 58986	GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1	APOLD1, ARHGDIB +140 more	Copy number loss	See cases	GPathogenic
Select item 2618903	NM_001080555.4(GSG1):c.1016A>G (p.Lys339Arg)	GSG1, LOC126861459 (K275R +8 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3102898	NM_001080555.4(GSG1):c.1002C>T (p.Ser334=)	GSG1, LOC126861459	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2316153	NM_001080555.4(GSG1):c.946C>T (p.His316Tyr)	GSG1, LOC126861459 (H303Y +8 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3102906	NM_001080555.4(GSG1):c.902G>A (p.Arg301Gln)	GSG1, LOC126861459 (R237Q +9 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2387767	NM_001080555.4(GSG1):c.901C>T (p.Arg301Trp)	GSG1, LOC126861459 (R265W +8 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2227840	NM_001080555.4(GSG1):c.899G>A (p.Arg300Gln)	GSG1, LOC126861459 (G343S +9 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2282365	NM_001080555.4(GSG1):c.860A>G (p.Asn287Ser)	GSG1, LOC126861459 (N264S +9 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2211395	NM_001080555.4(GSG1):c.803C>T (p.Thr268Met)	GSG1, LOC126861459 (T232M +9 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2511321	NM_001080555.4(GSG1):c.782C>T (p.Ser261Leu)	GSG1, LOC126861459 (R304W +9 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3102905	NM_001080555.4(GSG1):c.689T>C (p.Val230Ala)	GSG1 (V143A +8 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3102904	NM_001080555.4(GSG1):c.688G>A (p.Val230Ile)	GSG1 (C220Y +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282979	NM_001080555.4(GSG1):c.586T>C (p.Cys196Arg)	GSG1 (L201P +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235585	NM_001080555.4(GSG1):c.583G>A (p.Ala195Thr)	GSG1 (A159T +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282983	NM_001080555.4(GSG1):c.518A>G (p.Tyr173Cys)	GSG1 (Y150C +5 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3102903	NM_001080555.4(GSG1):c.507G>A (p.Thr169=)	GSG1 (A175T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2590684	NM_001080555.4(GSG1):c.506C>T (p.Thr169Met)	GSG1 (T193M +5 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2554437	NM_001080555.4(GSG1):c.488T>C (p.Leu163Pro)	GSG1 (L140P +5 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2513625	NM_001080555.4(GSG1):c.464C>T (p.Thr155Ile)	GSG1 (T155I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455513	NM_001080555.4(GSG1):c.425C>T (p.Ala142Val)	GSG1 (A129V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102902	NM_001080555.4(GSG1):c.407G>A (p.Arg136Gln)	GSG1 (R136Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2323617	NM_001080555.4(GSG1):c.406C>T (p.Arg136Trp)	GSG1 (R123W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461839	NM_001080555.4(GSG1):c.388A>G (p.Lys130Glu)	GSG1 (K117E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102901	NM_001080555.4(GSG1):c.385T>G (p.Trp129Gly)	GSG1 (W116G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374012	NM_001080555.4(GSG1):c.361C>A (p.Pro121Thr)	GSG1 (P121T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391118	NM_001080555.4(GSG1):c.310C>T (p.Arg104Trp)	GSG1 (R91W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282982	NM_001080555.4(GSG1):c.283G>A (p.Glu95Lys)	GSG1 (E82K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205850	NM_001080555.4(GSG1):c.221T>G (p.Met74Arg)	GSG1 (M74R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102899	NM_001080555.4(GSG1):c.185T>C (p.Leu62Pro)	GSG1 (L62P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300387	NM_001080555.4(GSG1):c.148T>A (p.Tyr50Asn)	GSG1 (Y37N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282980	NM_001080555.4(GSG1):c.107T>C (p.Met36Thr)	GSG1 (M36T +1 more)	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 2506545	GRCh37/hg19 12p13.2-13.1(chr12:11463270-14019142)	APOLD1, BCL2L14 +19 more	Copy number loss	Intellectual disability	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 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	FAM234B, GOLT1B +85 more	Copy number loss	not provided	GPathogenic
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 1436741	NC_000012.11:g.(?_11803062)_(15835885_?)dup	APOLD1, ARHGDIB +32 more	Duplication	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 831584	NC_000012.12:g.(?_12717002)_(13982130_?)del	APOLD1, CDKN1B +8 more	Deletion	Intellectual disability, autosomal dominant 6 +1 more	GPathogenic
Select item 831573	NC_000012.12:g.(?_12717002)_(13982130_?)dup	APOLD1, CDKN1B +8 more	Duplication	Intellectual disability, autosomal dominant 6 +1 more	GUncertain significance
Select item 815508	GRCh37/hg19 12p13.1(chr12:13242996-13356273)x1	EMP1, GSG1	Copy number loss	not provided	GUncertain significance
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 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 625596	GRCh37/hg19 12p13.2-13.1(chr12:10336209-13535349)	APOLD1, BCL2L14 +47 more	Copy number loss	Multiple endocrine neoplasia type 4	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 563981	GRCh37/hg19 12p13.2-13.1(chr12:10717428-14032860)x1	APOLD1, BCL2L14 +40 more	Copy number loss	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 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 253696	GRCh37/hg19 12p13.1(chr12:13102483-13804704)x4	HEBP1, FAM234B +4 more	Copy number gain	See cases	GUncertain significance
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 221389	GRCh37/hg19 12p13.2-13.1(chr12:12419642-13256423)x3	APOLD1, BORCS5 +12 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221369	chr12:10074776-18800953 complex variant	APOLD1, ARHGDIB +79 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 76