ClinVar for Gene (Select 389799) - ClinVar

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Links from Gene

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3266541	NM_001282957.2(CFAP77):c.466C>T (p.Arg156Cys)	CFAP77 (R156C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266540	NM_001282957.2(CFAP77):c.425G>A (p.Arg142His)	CFAP77 (R142H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266538	NM_001282957.2(CFAP77):c.797G>A (p.Arg266Gln)	CFAP77 (R266Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266537	NM_001282957.2(CFAP77):c.796C>T (p.Arg266Trp)	CFAP77 (R302W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266536	NM_001282957.2(CFAP77):c.518G>A (p.Arg173Gln)	CFAP77 (R209Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266535	NM_001282957.2(CFAP77):c.391G>C (p.Gly131Arg)	CFAP77 (G131R +1 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 3143684	NM_001282957.2(CFAP77):c.376G>A (p.Gly126Arg)	CFAP77 (G126R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143683	NM_001282957.2(CFAP77):c.343G>A (p.Glu115Lys)	CFAP77 (E115K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143682	NM_001282957.2(CFAP77):c.196-16327A>G	CFAP77 (Q85R)	Single nucleotide variant (missense variant +1 more)	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 2600362	NM_001282957.2(CFAP77):c.151G>A (p.Gly51Arg)	CFAP77 (G51R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596061	NM_001282957.2(CFAP77):c.64C>A (p.Arg22Ser)	CFAP77 (R22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511711	NM_001282957.2(CFAP77):c.723C>G (p.His241Gln)	CFAP77 (H241Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509660	NM_001282957.2(CFAP77):c.712C>T (p.His238Tyr)	CFAP77 (H274Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509559	NM_001282957.2(CFAP77):c.275T>C (p.Leu92Pro)	CFAP77 (L128P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490450	NM_001282957.2(CFAP77):c.353G>A (p.Arg118Gln)	CFAP77 (R118Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473294	NM_001282957.2(CFAP77):c.32T>C (p.Leu11Pro)	CFAP77 (L11P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2468341	NM_001282957.2(CFAP77):c.286G>A (p.Val96Ile)	CFAP77 (V132I +1 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 2407665	NM_001282957.2(CFAP77):c.739C>T (p.Arg247Cys)	CFAP77 (R283C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404123	NM_001282957.2(CFAP77):c.559C>T (p.Arg187Trp)	CFAP77 (R187W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403215	NM_001282957.2(CFAP77):c.391G>A (p.Gly131Ser)	CFAP77 (G131S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391080	NM_001282957.2(CFAP77):c.373C>T (p.Arg125Cys)	CFAP77 (R161C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369695	NM_001282957.2(CFAP77):c.196-16333C>T	CFAP77 (A83V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365524	NM_001282957.2(CFAP77):c.68G>T (p.Arg23Leu)	CFAP77 (R23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351777	NM_001282957.2(CFAP77):c.686C>T (p.Pro229Leu)	CFAP77 (P229L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298946	NM_001282957.2(CFAP77):c.17G>C (p.Ser6Thr)	CFAP77 (S6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264866	NM_001282957.2(CFAP77):c.457G>C (p.Asp153His)	CFAP77 (D189H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243084	NM_001282957.2(CFAP77):c.121A>C (p.Ile41Leu)	CFAP77 (I41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219056	NM_001282957.2(CFAP77):c.133A>T (p.Met45Leu)	CFAP77 (M45L)	Single nucleotide variant (missense variant)	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 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	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 687047	GRCh37/hg19 9q34.13(chr9:135157741-135306850)x1	CFAP77, SETX +1 more	Copy number loss	not provided	GUncertain significance
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 563636	GRCh37/hg19 9q34.13(chr9:135056357-135568321)x3	CFAP77, DDX31 +5 more	Copy number gain	not provided	GUncertain significance
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
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: 74