GBGT1[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 3098865	NM_021996.6(GBGT1):c.1001G>A (p.Arg334His)	GBGT1 (R198H +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2219421	NM_021996.6(GBGT1):c.1000C>T (p.Arg334Cys)	GBGT1 (R334C +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2212459	NM_021996.6(GBGT1):c.949G>A (p.Glu317Lys)	GBGT1 (E300K +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2618557	NM_021996.6(GBGT1):c.913T>G (p.Phe305Val)	GBGT1 (F305V +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2254923	NM_021996.6(GBGT1):c.857A>G (p.Asp286Gly)	GBGT1 (T280A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380507	NM_021996.6(GBGT1):c.854C>T (p.Ala285Val)	GBGT1 (A285V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098872	NM_021996.6(GBGT1):c.841A>G (p.Met281Val)	GBGT1 (M234V +3 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2405665	NM_021996.6(GBGT1):c.751G>T (p.Val251Leu)	GBGT1 (V115L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513800	NM_021996.6(GBGT1):c.722A>G (p.Tyr241Cys)	GBGT1 (Y224C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098868	NM_021996.6(GBGT1):c.706C>T (p.Arg236Cys)	GBGT1 (R100C +3 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2371758	NM_021996.6(GBGT1):c.697G>A (p.Ala233Thr)	GBGT1 (A186T +3 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 775281	NM_021996.6(GBGT1):c.696C>T (p.Tyr232=)	GBGT1 (T226M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3098867	NM_021996.6(GBGT1):c.641C>T (p.Pro214Leu)	GBGT1 (P197L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367028	NM_021996.6(GBGT1):c.590G>A (p.Arg197Gln)	GBGT1 (R197Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098866	NM_021996.6(GBGT1):c.545G>A (p.Arg182His)	GBGT1 (R165H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220523	NM_021996.6(GBGT1):c.544C>T (p.Arg182Cys)	GBGT1 (R165C +3 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2348897	NM_021996.6(GBGT1):c.496A>G (p.Ser166Gly)	GBGT1 (S149G +3 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2349705	NM_021996.6(GBGT1):c.466G>A (p.Gly156Arg)	GBGT1 (G109R +3 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2559172	NM_021996.6(GBGT1):c.451C>G (p.Pro151Ala)	GBGT1 (P104A +3 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2205556	NM_021996.6(GBGT1):c.422G>A (p.Arg141Gln)	GBGT1 (R124Q +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2470835	NM_021996.6(GBGT1):c.416G>A (p.Gly139Glu)	GBGT1 (G3E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280922	NM_021996.6(GBGT1):c.413G>A (p.Arg138His)	GBGT1 (R121H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542355	NM_021996.6(GBGT1):c.364A>G (p.Thr122Ala)	GBGT1 (T105A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2599197	NM_021996.6(GBGT1):c.352G>A (p.Val118Met)	GBGT1 (V118M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359196	NM_021996.6(GBGT1):c.332T>C (p.Ile111Thr)	GBGT1 (I94T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297118	NM_021996.6(GBGT1):c.181G>A (p.Val61Met)	GBGT1 (V14M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2618423	NM_021996.6(GBGT1):c.113A>G (p.Tyr38Cys)	GBGT1 (Y38C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098871	NM_021996.6(GBGT1):c.83A>G (p.Glu28Gly)	GBGT1 (E28G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280923	NM_021996.6(GBGT1):c.61A>T (p.Ser21Cys)	GBGT1 (S21C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3098870	NM_021996.6(GBGT1):c.7C>T (p.Arg3Cys)	GBGT1 (R3C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	REXO4, RNU6ATAC +100 more	Duplication	Tuberous sclerosis 1 +4 more	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 833105	NC_000009.11:g.(?_135771850)_(137038881_?)dup	ABO, ADAMTS13 +26 more	Duplication	Tuberous sclerosis 1	GUncertain significance
Select item 832997	NC_000009.11:g.(?_135771602)_(136769889_?)dup	ABO, ADAMTS13 +23 more	Duplication	Tuberous sclerosis 1	GUncertain significance
Select item 815302	GRCh37/hg19 9q34.2(chr9:135920220-136139686)x1	ABO, CEL +4 more	Copy number loss	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 652388	NC_000009.11:g.(?_134379574)_(138678377_?)dup	ABO, ADAMTS13 +55 more	Duplication	Ehlers-Danlos syndrome, classic type	GUncertain significance
Select item 563671	GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3	ABCA2, ABO +130 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 523169	GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1	DPH7, OLFM1 +128 more	Copy number loss	mTOR Inhibitor response	Gdrug response
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 394160	GRCh37/hg19 9q34.13-34.2(chr9:135797171-136245956)x3	ABO, CEL +13 more	Copy number gain	See cases	GUncertain significance
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 74