ClinVar for Gene (Select 158067) - ClinVar

Links from Gene

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280022	NM_152572.3(AK8):c.509T>C (p.Val170Ala)	AK8 (V170A +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3280015	NM_152572.3(AK8):c.801C>A (p.Phe267Leu)	AK8 (F95L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280007	NM_152572.3(AK8):c.1390G>C (p.Glu464Gln)	AK8 (E464Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279996	NM_152572.3(AK8):c.1099C>T (p.Arg367Cys)	AK8 (R195C +4 more)	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 3245116	NC_000009.11:g.(?_131346980)_(135942612_?)dup	BARHL1, C9orf50 +62 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
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 3104111	NM_152572.3(AK8):c.988A>G (p.Ser330Gly)	AK8 (S126G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104107	NM_152572.3(AK8):c.959T>G (p.Phe320Cys)	AK8 (F116C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104097	NM_152572.3(AK8):c.793G>A (p.Ala265Thr)	AK8 (A265T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104092	NM_152572.3(AK8):c.734C>A (p.Pro245Gln)	AK8 (P200Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104080	NM_152572.3(AK8):c.644C>T (p.Thr215Met)	AK8 (T186M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104075	NM_152572.3(AK8):c.607C>T (p.Arg203Cys)	AK8 (R158C +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3104060	NM_152572.3(AK8):c.35C>G (p.Pro12Arg)	AK8 (P12R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3104056	NM_152572.3(AK8):c.34C>G (p.Pro12Ala)	AK8 (P12A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3104049	NM_152572.3(AK8):c.347C>G (p.Ala116Gly)	AK8 (A116G +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3104043	NM_152572.3(AK8):c.286T>A (p.Phe96Ile)	AK8 (F96I +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3103957	NM_152572.3(AK8):c.1100G>A (p.Arg367His)	AK8 (R195H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103938	NM_152572.3(AK8):c.1070G>A (p.Arg357Gln)	AK8 (R153Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103923	NM_152572.3(AK8):c.1057C>T (p.His353Tyr)	AK8 (H149Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103906	NM_152572.3(AK8):c.1023C>A (p.Asp341Glu)	AK8 (D137E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063120	GRCh37/hg19 9q34.13(chr9:135056358-135636431)x1	AK8, BARHL1 +6 more	Copy number loss	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 2685367	GRCh37/hg19 9q34.13(chr9:135469154-135717772)x1	AK8, DDX31 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2613798	NM_152572.3(AK8):c.842A>G (p.Lys281Arg)	AK8 (K236R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609893	NM_152572.3(AK8):c.160A>G (p.Asn54Asp)	AK8 (N25D +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2608394	NM_152572.3(AK8):c.221C>G (p.Ala74Gly)	AK8 (A29G +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2596506	NM_152572.3(AK8):c.1144T>C (p.Phe382Leu)	AK8 (F210L +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2560100	NM_152572.3(AK8):c.980T>C (p.Val327Ala)	AK8 (V123A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546685	NM_152572.3(AK8):c.691C>T (p.Pro231Ser)	AK8 (P59S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514073	NM_152572.3(AK8):c.541G>A (p.Asp181Asn)	AK8 (D152N +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2496295	NM_152572.3(AK8):c.515T>G (p.Ile172Ser)	AK8 (I143S +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2495061	NM_152572.3(AK8):c.1031A>G (p.Asp344Gly)	AK8 (D140G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480352	NM_152572.3(AK8):c.656T>A (p.Leu219Gln)	AK8 (L219Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472825	NM_152572.3(AK8):c.745G>A (p.Val249Ile)	AK8 (V77I +4 more)	Single nucleotide variant (missense variant)	not specified	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 2425935	NC_000009.11:g.(?_131857676)_(135942612_?)dup	ABL1, AIF1L +45 more	Duplication	not provided	GUncertain significance
Select item 2425485	NC_000009.11:g.(?_133884602)_(135942612_?)dup	AIF1L, AK8 +21 more	Duplication	not provided	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 2394674	NM_152572.3(AK8):c.1406G>A (p.Gly469Glu)	AK8 (G297E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387685	NM_152572.3(AK8):c.199G>A (p.Ala67Thr)	AK8 (A38T +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2385555	NM_152572.3(AK8):c.589G>A (p.Glu197Lys)	AK8 (E152K +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2381553	NM_152572.3(AK8):c.251G>A (p.Ser84Asn)	AK8 (S84N +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2381282	NM_152572.3(AK8):c.157G>C (p.Asp53His)	AK8 (D53H +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2375859	NM_152572.3(AK8):c.347C>T (p.Ala116Val)	AK8 (A87V +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2364063	NM_152572.3(AK8):c.1060G>A (p.Gly354Ser)	AK8 (G182S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351453	NM_152572.3(AK8):c.1078G>A (p.Asp360Asn)	AK8 (D331N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317379	NM_152572.3(AK8):c.1215G>T (p.Met405Ile)	AK8 (M360I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277426	NM_152572.3(AK8):c.287T>G (p.Phe96Cys)	AK8 (F96C +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2250438	NM_152572.3(AK8):c.25C>T (p.Arg9Cys)	AK8 (R9C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2248351	NM_152572.3(AK8):c.827C>T (p.Pro276Leu)	AK8 (P104L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243145	NM_152572.3(AK8):c.338T>C (p.Val113Ala)	AK8 (V113A +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2231452	NM_152572.3(AK8):c.1114C>A (p.Pro372Thr)	AK8 (P200T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222972	NM_152572.3(AK8):c.10A>G (p.Thr4Ala)	AK8 (T4A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2221511	NM_152572.3(AK8):c.374G>A (p.Arg125His)	AK8 (R125H +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2214701	NM_152572.3(AK8):c.118G>A (p.Glu40Lys)	AK8 (E40K +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2213809	NM_152572.3(AK8):c.34C>A (p.Pro12Thr)	AK8 (P12T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1808330	GRCh37/hg19 9q34.13-34.2(chr9:135354006-135950908)x3	BARHL1, CEL +8 more	Copy number gain	not provided	GUncertain significance
Select item 1696834	NC_000009.12:g.132691768_133013020del	TSC1, AK8 +11 more	Deletion	Tuberous sclerosis 1	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 1176589	GRCh37/hg19 9q34.13(chr9:135668021-135804259)x1	AK8, SPACA9 +1 more	Copy number loss	not provided	GPathogenic
Select item 872680	GRCh37/hg19 9q34.13(chr9:135668021-135804259)x3	SPACA9, AK8 +1 more	Copy number gain	not provided	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 685002	GRCh37/hg19 9q34.13-34.2(chr9:135699918-136011082)x3	AK8, CEL +5 more	Copy number gain	not provided	GUncertain significance
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 397550	NC_000009.11:g.(135750586_135753559)_(135772997_135776102)del	AK8, SPACA9 +1 more	Deletion	Tuberous sclerosis 1	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
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 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 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 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 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 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 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 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 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 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 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 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 97