12820[HGNC] - ClinVar

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Items: 75

	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 2409733	NM_020385.4(REXO4):c.1223G>T (p.Arg408Met)	REXO4 (R236M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377463	NM_020385.4(REXO4):c.1217G>A (p.Arg406Gln)	REXO4 (R269Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313835	NM_020385.4(REXO4):c.1214C>T (p.Ala405Val)	REXO4 (A268V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153312	NM_020385.4(REXO4):c.1195A>G (p.Lys399Glu)	REXO4 (K227E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380354	NM_020385.4(REXO4):c.1183G>A (p.Val395Ile)	REXO4 (V223I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3153311	NM_020385.4(REXO4):c.1163A>C (p.Gln388Pro)	REXO4 (Q388P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550614	NM_020385.4(REXO4):c.1156G>A (p.Asp386Asn)	REXO4 (D386N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153310	NM_020385.4(REXO4):c.1153C>G (p.Gln385Glu)	REXO4 (Q385E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153309	NM_020385.4(REXO4):c.1049A>G (p.Tyr350Cys)	REXO4 (Y178C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508877	NM_020385.4(REXO4):c.890G>A (p.Arg297Gln)	REXO4 (R297Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2204366	NM_020385.4(REXO4):c.889C>T (p.Arg297Trp)	REXO4 (R160W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3153320	NM_020385.4(REXO4):c.875C>T (p.Ala292Val)	REXO4 (A155V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3153319	NM_020385.4(REXO4):c.850G>A (p.Glu284Lys)	REXO4 (E284K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3153318	NM_020385.4(REXO4):c.826T>C (p.Tyr276His)	REXO4 (Y183H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361681	NM_020385.4(REXO4):c.667A>G (p.Ser223Gly)	REXO4 (S223G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 812699	NM_020385.4(REXO4):c.664C>T (p.Gln222Ter)	REXO4 (Q129* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 3153317	NM_020385.4(REXO4):c.573G>A (p.Glu191=)	REXO4	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2458012	NM_020385.4(REXO4):c.571G>A (p.Glu191Lys)	ADAMTS13, REXO4 (E54K +2 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2553052	NM_020385.4(REXO4):c.523G>A (p.Glu175Lys)	ADAMTS13, REXO4 (E175K +2 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3153316	NM_020385.4(REXO4):c.464A>G (p.Asn155Ser)	ADAMTS13, REXO4 (N62S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2345945	NM_020385.4(REXO4):c.437G>A (p.Arg146His)	ADAMTS13, REXO4 (A87T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388988	NM_020385.4(REXO4):c.359C>T (p.Pro120Leu)	ADAMTS13, REXO4 (P120L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153314	NM_020385.4(REXO4):c.352G>A (p.Glu118Lys)	ADAMTS13, REXO4 (E118K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313837	NM_020385.4(REXO4):c.273C>G (p.Ile91Met)	ADAMTS13, REXO4 (I91M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3153313	NM_020385.4(REXO4):c.265C>T (p.Leu89Phe)	ADAMTS13, REXO4 (L89F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2461759	NM_020385.4(REXO4):c.257A>G (p.Glu86Gly)	ADAMTS13, REXO4 (E86G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2207458	NM_020385.4(REXO4):c.213G>T (p.Lys71Asn)	ADAMTS13, REXO4 (K71N)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2232632	NM_020385.4(REXO4):c.207C>G (p.Asn69Lys)	ADAMTS13, REXO4 (N69K)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3313836	NM_020385.4(REXO4):c.164C>T (p.Ala55Val)	ADAMTS13, REXO4 (A55V)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 2553446	NM_020385.4(REXO4):c.137G>T (p.Ser46Ile)	ADAMTS13, REXO4 (S46I)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2273007	NM_020385.4(REXO4):c.93C>G (p.Asn31Lys)	ADAMTS13, REXO4 (N31K)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3313838	NM_020385.4(REXO4):c.49G>A (p.Val17Met)	ADAMTS13, LOC130002905 +1 more (V17M)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
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 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	STKLD1, STPG3 +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
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 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 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: 75