ClinVar for Gene (Select 56654) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 118

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300760	NM_015392.4(NPDC1):c.700C>T (p.Arg234Trp)	NPDC1 (R234W)	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 3238725	GRCh38/hg38 9q34.3(chr9:135338745-138124196)	ABCA2, AGPAT2 +344 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238719	GRCh38/hg38 9q34.3(chr9:136993278-138200863)	LOC130003071, LOC130003072 +154 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238709	GRCh38/hg38 9q34.3(chr9:136684941-138124673)	ABCA2, AGPAT2 +227 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238708	GRCh38/hg38 9q34.3(chr9:135791488-138262981)	ABCA2, AGPAT2 +325 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 3238702	GRCh38/hg38 9q34.3(chr9:136869696-138172039)	ABCA2, ANAPC2 +176 more	Copy number loss	Kleefstra syndrome 1	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 3238700	GRCh38/hg38 9q34.3(chr9:136032451-138125938)	LOC130003044, LOC130003045 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238697	GRCh38/hg38 9q34.3(chr9:135008333-138199729)	ABCA2, AGPAT2 +347 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 3238690	GRCh38/hg38 9q34.3(chr9:136817307-138133487)	ABCA2, AJM1 +193 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +367 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238683	GRCh38/hg38 9q34.3(chr9:136806104-138394717)	LOC130003043, LOC130003044 +199 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238682	GRCh38/hg38 9q34.3(chr9:137569711-138129711)	ABCA2, AJM1 +193 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238681	GRCh38/hg38 9q34.3(chr9:137552082-138394717)	ABCA2, ANAPC2 +168 more	Copy number loss	Kleefstra syndrome 1	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 3238672	GRCh38/hg38 9q34.3(chr9:137529711-138129711)	ABCA2, AJM1 +193 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 3238669	GRCh38/hg38 9q34.3(chr9:135954288-138125938)	LOC130003073, LOC130003074 +310 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 3238659	GRCh38/hg38 9q34.3(chr9:135182209-138129711)	UBAC1, ZMYND19 +346 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238658	GRCh38/hg38 9q34.3(chr9:135969078-138104469)	LOC126860801, LOC129390118 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3201604	NM_015392.4(NPDC1):c.737C>T (p.Ala246Val)	NPDC1 (A246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201603	NM_015392.4(NPDC1):c.499C>G (p.Pro167Ala)	NPDC1 (P167A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201602	NM_015392.4(NPDC1):c.340T>C (p.Ser114Pro)	NPDC1 (S114P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201601	NM_015392.4(NPDC1):c.130G>A (p.Gly44Arg)	NPDC1 (G44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201600	NM_015392.4(NPDC1):c.124T>C (p.Cys42Arg)	NPDC1 (C42R)	Single nucleotide variant (missense variant)	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 2595408	NM_015392.4(NPDC1):c.722G>A (p.Arg241Gln)	NPDC1 (R241Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2576630	GRCh37/hg19 9q34.3(chr9:139685408-141050580)x3	ABCA2, AJM1 +52 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2569197	NM_015392.4(NPDC1):c.643C>G (p.Leu215Val)	NPDC1 (L215V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560043	NM_015392.4(NPDC1):c.475C>G (p.Leu159Val)	NPDC1 (L159V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542923	NM_015392.4(NPDC1):c.664G>A (p.Ala222Thr)	NPDC1 (A222T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517182	NM_015392.4(NPDC1):c.269G>A (p.Arg90Gln)	NPDC1 (R90Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515228	NM_015392.4(NPDC1):c.476T>C (p.Leu159Pro)	NPDC1 (L159P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478876	NM_015392.4(NPDC1):c.172C>G (p.Pro58Ala)	NPDC1 (P58A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458385	NM_015392.4(NPDC1):c.401C>T (p.Ser134Leu)	NPDC1 (S134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456872	NM_015392.4(NPDC1):c.592G>A (p.Ala198Thr)	NPDC1 (A198T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2423367	NC_000009.11:g.(?_139089171)_(141016451_?)del	ABCA2, AGPAT2 +73 more	Deletion	Rafiq syndrome	GPathogenic
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	REXO4, RNU6ATAC +100 more	Duplication	Tuberous sclerosis 1 +4 more	GUncertain significance
Select item 2411994	NM_015392.4(NPDC1):c.505C>T (p.His169Tyr)	NPDC1 (H169Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405465	NM_015392.4(NPDC1):c.275A>C (p.Gln92Pro)	NPDC1 (Q92P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404924	NM_015392.4(NPDC1):c.689C>A (p.Pro230His)	NPDC1 (P230H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377575	NM_015392.4(NPDC1):c.371G>A (p.Arg124Gln)	NPDC1 (R124Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374780	NM_015392.4(NPDC1):c.463C>T (p.Pro155Ser)	NPDC1 (P155S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366982	NM_015392.4(NPDC1):c.527G>A (p.Arg176Gln)	NPDC1 (R176Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332889	NM_015392.4(NPDC1):c.470C>G (p.Thr157Ser)	NPDC1 (T157S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297201	NM_015392.4(NPDC1):c.500C>T (p.Pro167Leu)	NPDC1 (P167L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286268	NM_015392.4(NPDC1):c.376C>T (p.Pro126Ser)	NPDC1 (P126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267943	NM_015392.4(NPDC1):c.550G>A (p.Ala184Thr)	NPDC1 (A184T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251585	NM_015392.4(NPDC1):c.573C>G (p.Phe191Leu)	NPDC1 (F191L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224236	NM_015392.4(NPDC1):c.268C>T (p.Arg90Trp)	NPDC1 (R90W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219555	NM_015392.4(NPDC1):c.107A>G (p.His36Arg)	NPDC1 (H36R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2212530	NM_015392.4(NPDC1):c.763C>T (p.Arg255Trp)	NPDC1 (R255W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LOC124375251, LOC126860788 +265 more	Copy number loss	See cases	GPathogenic
Select item 1527567	GRCh37/hg19 9q34.3(chr9:139563039-140310033)	ABCA2, AGPAT2 +50 more	Copy number loss	not specified	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 1047897	GRCh37/hg19 9q34.3(chr9:139284464-141018984)	RNF208, RNF224 +68 more	Copy number loss	Coarctation of aorta +1 more	GPathogenic
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 997822	Single allele	NDOR1, DPP7 +45 more	Deletion	Epilepsy +1 more	GPathogenic
Select item 986753	NC_000009.11:g.(?_139018777)_(141018984_?)del	LINC02908, LOC651337 +73 more	Deletion	Kleefstra syndrome 1	GPathogenic
Select item 980360	GRCh37/hg19 9q34.3(chr9:139776707-140234193)x3	NELFB, CYSRT1 +34 more	Copy number gain	not provided	GUncertain significance
Select item 831360	NC_000009.11:g.(?_138645763)_(140729425_?)del	GPSM1, GRIN1 +77 more	Deletion	Developmental and epileptic encephalopathy, 14 +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 687997	GRCh37/hg19 9q34.3(chr9:139766260-140186072)x3	ABCA2, ANAPC2 +32 more	Copy number gain	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 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
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 393947	GRCh37/hg19 9q34.3(chr9:138222049-141018925)x1	ABCA2, AGPAT2 +88 more	Copy number loss	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
Select item 161082	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	LOC130003070, LOC130003071 +283 more	Copy number loss	See cases	GPathogenic
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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	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 154911	GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1	ABCA2, ANAPC2 +176 more	Copy number loss	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 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 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 152149	GRCh38/hg38 9q34.3(chr9:137025210-137048081)x3	ABCA2, FUT7 +3 more	Copy number gain	See cases	GBenign
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 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2