GBGT1[gene] - ClinVar

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

Search results

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 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 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	ABCA2, ABL1 +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	ABCA2, ABO +100 more	Duplication	Rafiq syndrome +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	BRD3, CACFD1 +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	GTF3C4, GTF3C5 +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)	ISCA1, MIR32 +555 more	Copy number gain	Global developmental delay +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 67