30221[HGNC] - ClinVar - NCBI

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	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 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	LOC129390118, LOC130002920 +439 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	INPP5E, KCNT1 +417 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	LOC130003077, LOC130003078 +405 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	GPathogenic
Select item 3238701	GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727)	ABCA2, AGPAT2 +388 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +367 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LOC124375251, LOC126860788 +265 more	Copy number loss	See cases	GPathogenic
Select item 3238697	GRCh38/hg38 9q34.3(chr9:135008333-138199729)	ABCA2, AGPAT2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 145568	GRCh38/hg38 9q34.3(chr9:135164984-136437047)x3	CAMSAP1, CARD9 +86 more	Copy number gain	See cases	GUncertain significance
Select item 3238659	GRCh38/hg38 9q34.3(chr9:135182209-138129711)	UBAC1, ZMYND19 +346 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238707	GRCh38/hg38 9q34.3(chr9:135203306-138100471)	LOC130003123, LOC130003124 +345 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238694	GRCh38/hg38 9q34.3(chr9:135204722-138394717)	EHMT1, ENTPD2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238725	GRCh38/hg38 9q34.3(chr9:135338745-138124196)	ABCA2, AGPAT2 +344 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic
Select item 155327	GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4	QSOX2, RABL6 +324 more	Copy number gain	See cases	GLikely pathogenic
Select item 3238708	GRCh38/hg38 9q34.3(chr9:135791488-138262981)	ABCA2, AGPAT2 +325 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 2606498	NM_016172.3(UBAC1):c.1187C>T (p.Ser396Phe)	UBAC1 (S396F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185415	NM_016172.3(UBAC1):c.1007T>G (p.Leu336Arg)	UBAC1 (L336R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354073	NM_016172.3(UBAC1):c.998C>T (p.Pro333Leu)	UBAC1 (P333L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206560	NM_016172.3(UBAC1):c.985C>T (p.Arg329Trp)	UBAC1 (R329W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473198	NM_016172.3(UBAC1):c.824C>T (p.Thr275Met)	UBAC1 (T275M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312408	NM_016172.3(UBAC1):c.817G>A (p.Glu273Lys)	UBAC1 (E273K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206634	NM_016172.3(UBAC1):c.796A>C (p.Thr266Pro)	UBAC1 (T266P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275638	NM_016172.3(UBAC1):c.792C>G (p.Ser264Arg)	UBAC1 (S264R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330500	NM_016172.3(UBAC1):c.782C>T (p.Ala261Val)	UBAC1 (A261V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387099	NM_016172.3(UBAC1):c.781G>A (p.Ala261Thr)	UBAC1 (A261T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300865	NM_016172.3(UBAC1):c.763G>A (p.Ala255Thr)	UBAC1 (A255T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185421	NM_016172.3(UBAC1):c.733G>C (p.Ala245Pro)	UBAC1 (A245P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359278	NM_016172.3(UBAC1):c.644A>G (p.Gln215Arg)	UBAC1 (Q215R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3185420	NM_016172.3(UBAC1):c.605A>C (p.Glu202Ala)	UBAC1 (E202A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344124	NM_016172.3(UBAC1):c.593G>A (p.Arg198Gln)	UBAC1 (R198Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529217	NM_016172.3(UBAC1):c.531T>G (p.Phe177Leu)	UBAC1 (F177L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398181	NM_016172.3(UBAC1):c.518C>T (p.Ala173Val)	UBAC1 (A173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185419	NM_016172.3(UBAC1):c.503C>T (p.Ala168Val)	UBAC1 (A168V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336929	NM_016172.3(UBAC1):c.446A>C (p.Gln149Pro)	UBAC1 (Q149P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605232	NM_016172.3(UBAC1):c.407T>C (p.Met136Thr)	LOC126860789, UBAC1 (M136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185418	NM_016172.3(UBAC1):c.398C>T (p.Ser133Phe)	LOC126860789, UBAC1 (S133F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237251	NM_016172.3(UBAC1):c.365A>T (p.Glu122Val)	UBAC1 (E122V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315352	NM_016172.3(UBAC1):c.335A>G (p.Lys112Arg)	UBAC1 (K112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330498	NM_016172.3(UBAC1):c.284G>A (p.Arg95His)	UBAC1 (R95H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370008	NM_016172.3(UBAC1):c.283C>T (p.Arg95Cys)	UBAC1 (R95C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3238669	GRCh38/hg38 9q34.3(chr9:135954288-138125938)	LOC130003073, LOC130003074 +310 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3185417	NM_016172.3(UBAC1):c.227G>C (p.Arg76Thr)	UBAC1 (R76T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588433	NM_016172.3(UBAC1):c.179A>G (p.His60Arg)	UBAC1 (H60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790404	NM_016172.3(UBAC1):c.145C>T (p.His49Tyr)	UBAC1 (H49Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3185416	NM_016172.3(UBAC1):c.130C>T (p.Leu44Phe)	UBAC1 (L44F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483662	NM_016172.3(UBAC1):c.70G>A (p.Ala24Thr)	UBAC1 (A24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267622	NM_016172.3(UBAC1):c.67G>A (p.Gly23Ser)	UBAC1 (G23S)	Single nucleotide variant (missense variant)	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 3063105	GRCh37/hg19 9q34.3(chr9:137892345-138866686)x3	CAMSAP1, GLT6D1 +12 more	Copy number gain	not specified	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 2684590	GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	ABCA2, AGPAT2 +95 more	Copy number gain	not provided	GPathogenic
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	STKLD1, STPG3 +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426327	NC_000009.11:g.(?_138392557)_(141016451_?)del	NOXA1, NPDC1 +85 more	Deletion	Adams-Oliver syndrome 5 +3 more	GConflicting classifications of pathogenicity
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 1527564	GRCh37/hg19 9q34.3(chr9:138740078-141020389)	ABCA2, AGPAT2 +77 more	Copy number loss	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1372096	NC_000009.11:g.(?_137534034)_(139440238_?)dup	C9orf163, CAMSAP1 +29 more	Duplication	Adams-Oliver syndrome 5 +1 more	GUncertain significance
Select item 1008189	NC_000009.11:g.(?_138594085)_(140062314_?)dup	ABCA2, AGPAT2 +49 more	Duplication	Developmental and epileptic encephalopathy, 14 +2 more	GUncertain significance
Select item 831360	NC_000009.11:g.(?_138645763)_(140729425_?)del	DPH7, DPP7 +77 more	Deletion	Kleefstra syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 813716	GRCh37/hg19 9q34.3(chr9:138225001-141015001)	ABCA2, AGPAT2 +88 more	Copy number loss	Microcephaly	GPathogenic
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 660707	NC_000009.11:g.(?_138594085)_(139440258_?)dup	C9orf163, CAMSAP1 +15 more	Duplication	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 655240	NC_000009.11:g.(?_138683633)_(139440248_?)dup	C9orf163, CAMSAP1 +15 more	Duplication	Adams-Oliver syndrome 5	GUncertain significance
Select item 640461	NC_000009.11:g.(?_138683633)_(139440248_?)del	C9orf163, CAMSAP1 +15 more	Deletion	Adams-Oliver syndrome 5	GPathogenic
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 443824	GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3	ABCA2, AGPAT2 +87 more	Copy number gain	See cases	GLikely pathogenic
Select item 442899	GRCh37/hg19 9q34.3(chr9:138209358-141020389)x1	ABCA2, AGPAT2 +88 more	Copy number loss	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

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