NACC2[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +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)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +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	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	LOC130002885, LOC130002886 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	PAEP, PIERCE1 +536 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	ABCA2, ABL1 +656 more	Copy number gain	See cases	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC110121282, LOC111365185 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	BRD3, BRD3OS +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	ABCA2, ADAMTSL2 +439 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	LOC130002964, LOC130002965 +417 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	ABCA2, AGPAT2 +405 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	LOC130003068, LOC130003069 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	ABCA2, AGPAT2 +371 more	Copy number loss	See cases	GPathogenic
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LCN15, LCN6 +265 more	Copy number loss	See cases	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 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	LOC130003113, LOC130003114 +324 more	Copy number gain	See cases	GLikely pathogenic
Select item 2321504	NM_144653.5(NACC2):c.1742G>A (p.Gly581Asp)	NACC2 (G581D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218541	NM_144653.5(NACC2):c.1718C>T (p.Ala573Val)	NACC2 (A573V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341656	NM_144653.5(NACC2):c.1621G>A (p.Glu541Lys)	NACC2 (E541K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173054	NM_144653.5(NACC2):c.1610C>T (p.Ser537Leu)	NACC2 (S537L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354950	NM_144653.5(NACC2):c.1582G>A (p.Ala528Thr)	NACC2 (A528T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173048	NM_144653.5(NACC2):c.1564G>A (p.Ala522Thr)	NACC2 (A522T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3173043	NM_144653.5(NACC2):c.1552C>G (p.Leu518Val)	NACC2 (L518V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173037	NM_144653.5(NACC2):c.1540G>A (p.Val514Met)	NACC2 (V514M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217839	NM_144653.5(NACC2):c.1519G>A (p.Val507Met)	NACC2 (V507M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396388	NM_144653.5(NACC2):c.1505A>C (p.Asp502Ala)	NACC2 (D502A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615885	NM_144653.5(NACC2):c.1474G>A (p.Glu492Lys)	NACC2 (E492K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534301	NM_144653.5(NACC2):c.1453C>G (p.Pro485Ala)	NACC2 (P485A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528115	NM_144653.5(NACC2):c.1438G>A (p.Asp480Asn)	NACC2 (D480N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382044	NM_144653.5(NACC2):c.1423G>A (p.Ala475Thr)	NACC2 (A475T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519800	NM_144653.5(NACC2):c.1420G>A (p.Ala474Thr)	NACC2 (A474T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534300	NM_144653.5(NACC2):c.1417G>T (p.Ala473Ser)	NACC2 (A473S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3173012	NM_144653.5(NACC2):c.1408A>G (p.Met470Val)	NACC2 (M470V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591921	NM_144653.5(NACC2):c.1405G>C (p.Val469Leu)	NACC2 (V469L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298063	NM_144653.5(NACC2):c.1246G>A (p.Ala416Thr)	NACC2 (A416T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720315	NM_144653.5(NACC2):c.1224G>A (p.Pro408=)	NACC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768339	NM_144653.5(NACC2):c.1206C>T (p.Ser402=)	NACC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2290237	NM_144653.5(NACC2):c.1016A>C (p.Glu339Ala)	NACC2 (E339A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267690	NM_144653.5(NACC2):c.970C>T (p.Leu324Phe)	NACC2 (L324F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559372	NM_144653.5(NACC2):c.944G>A (p.Arg315His)	NACC2 (R315H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530279	NM_144653.5(NACC2):c.923G>A (p.Arg308His)	NACC2 (R308H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255908	NM_144653.5(NACC2):c.890A>G (p.Gln297Arg)	NACC2 (Q297R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +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	ENTPD8, INPP5E +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426327	NC_000009.11:g.(?_138392557)_(141016451_?)del	ABCA2, AGPAT2 +85 more	Deletion	Familial aplasia of the vermis +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	ABCA2, ABO +100 more	Duplication	Autosomal dominant nocturnal frontal lobe epilepsy 5 +4 more	GUncertain significance
Select item 1809115	GRCh37/hg19 9q34.3(chr9:138929784-139252520)x3	GPSM1, LHX3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1527564	GRCh37/hg19 9q34.3(chr9:138740078-141020389)	ENTR1, EXD3 +77 more	Copy number loss	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1372096	NC_000009.11:g.(?_137534034)_(139440238_?)dup	C9orf163, CAMSAP1 +29 more	Duplication	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 1008189	NC_000009.11:g.(?_138594085)_(140062314_?)dup	LCN10, LCN12 +49 more	Duplication	Intellectual disability, autosomal dominant 8 +2 more	GUncertain significance
Select item 831360	NC_000009.11:g.(?_138645763)_(140729425_?)del	MAN1B1, MIR126 +77 more	Deletion	Developmental and epileptic encephalopathy, 14 +2 more	GConflicting classifications of pathogenicity
Select item 813716	GRCh37/hg19 9q34.3(chr9:138225001-141015001)	TMEM250, PPP1R26 +88 more	Copy number loss	Microcephaly	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 660707	NC_000009.11:g.(?_138594085)_(139440258_?)dup	INPP5E, 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)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 523169	GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1	CAMSAP1, OLFM1 +128 more	Copy number loss	mTOR Inhibitor response	Gdrug response
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +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)	UBQLN1, UCK1 +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	OR1L8, OR1N1 +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	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 81