CEP170B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056535, LOC130056536 +671 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LOC130056672, LOC130056673 +667 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056604, LOC130056605 +654 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +632 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR493, MIR494 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	LOC130056480, LOC130056481 +571 more	Copy number loss	See cases	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	IGHV1-46, IGHV1-58 +561 more	Copy number loss	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	MIR6765, MIR8071-1 +441 more	Copy number loss	See cases	GPathogenic
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	ADSS1, AHNAK2 +416 more	Copy number loss	See cases	GPathogenic
Select item 153602	GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	ADSS1, AHNAK2 +397 more	Copy number loss	See cases	GPathogenic
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	LOC130056644, LOC130056645 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 57840	GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1	ADSS1, AKT1 +177 more	Copy number loss	See cases	GPathogenic
Select item 155087	GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	ADSS1, AHNAK2 +367 more	Copy number loss	See cases	GPathogenic
Select item 154526	GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3	ADSS1, AHNAK2 +304 more	Copy number gain	See cases	GPathogenic
Select item 57841	GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 154736	GRCh38/hg38 14q32.33(chr14:103823600-106879298)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 154247	GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1	ADSS1, AHNAK2 +241 more	Copy number loss	See cases	GPathogenic
Select item 58348	GRCh38/hg38 14q32.33(chr14:104309234-104898546)x3	ADSS1, AKT1 +42 more	Copy number gain	See cases	GUncertain significance
Select item 146500	GRCh38/hg38 14q32.33(chr14:104622881-106678844)x1	ADSS1, AHNAK2 +216 more	Copy number loss	See cases	GUncertain significance
Select item 3142662	NM_001112726.3(CEP170B):c.11C>T (p.Thr4Met)	CEP170B (T4M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266100	NM_001112726.3(CEP170B):c.40G>C (p.Ala14Pro)	CEP170B (A14P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 150815	GRCh38/hg38 14q32.33(chr14:104872858-105605042)x3	AHNAK2, BRF1 +85 more	Copy number gain	See cases	GUncertain significance
Select item 2491423	NM_001112726.3(CEP170B):c.175G>A (p.Asp59Asn)	CEP170B (D59N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2644623	NM_001112726.3(CEP170B):c.198G>A (p.Thr66=)	CEP170B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2460050	NM_001112726.3(CEP170B):c.211A>G (p.Met71Val)	CEP170B (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3038267	NM_001112726.3(CEP170B):c.234C>T (p.Tyr78=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GLikely benign
Select item 3142679	NM_001112726.3(CEP170B):c.250A>G (p.Asn84Asp)	CEP170B (N14D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058985	NM_001112726.3(CEP170B):c.267C>T (p.Phe89=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 2644624	NM_001112726.3(CEP170B):c.273C>T (p.Tyr91=)	CEP170B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3266085	NM_001112726.3(CEP170B):c.299G>A (p.Arg100His)	CEP170B (R100H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055708	NM_001112726.3(CEP170B):c.318G>A (p.Pro106=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 3056165	NM_001112726.3(CEP170B):c.342G>A (p.Lys114=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 2255067	NM_001112726.3(CEP170B):c.367G>A (p.Val123Met)	CEP170B (V53M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058725	NM_001112726.3(CEP170B):c.381G>A (p.Ala127=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GLikely benign
Select item 787955	NM_001112726.3(CEP170B):c.439A>C (p.Arg147=)	CEP170B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2399464	NM_001112726.3(CEP170B):c.443C>T (p.Pro148Leu)	CEP170B (P78L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2249825	NM_001112726.3(CEP170B):c.526G>A (p.Asp176Asn)	CEP170B (D106N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142703	NM_001112726.3(CEP170B):c.581G>A (p.Arg194His)	CEP170B (R124H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058875	NM_001112726.3(CEP170B):c.594A>C (p.Pro198=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 3266079	NM_001112726.3(CEP170B):c.626G>A (p.Arg209His)	CEP170B (R209H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217636	NM_001112726.3(CEP170B):c.628G>A (p.Ala210Thr)	CEP170B (A140T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142704	NM_001112726.3(CEP170B):c.629C>T (p.Ala210Val)	CEP170B (A140V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367777	NM_001112726.3(CEP170B):c.631C>A (p.Pro211Thr)	CEP170B (P211T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619637	NM_001112726.3(CEP170B):c.640C>A (p.Pro214Thr)	CEP170B (P144T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557473	NM_001112726.3(CEP170B):c.644A>G (p.Gln215Arg)	CEP170B (Q145R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056334	NM_001112726.3(CEP170B):c.678C>T (p.Phe226=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 3142705	NM_001112726.3(CEP170B):c.689C>T (p.Thr230Met)	CEP170B (T160M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519995	NM_001112726.3(CEP170B):c.701C>T (p.Pro234Leu)	CEP170B (P234L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044921	NM_001112726.3(CEP170B):c.707C>T (p.Pro236Leu)	CEP170B (P166L +1 more)	Single nucleotide variant (missense variant)	CEP170B-related disorder	GBenign
Select item 2519622	NM_001112726.3(CEP170B):c.718C>G (p.Pro240Ala)	CEP170B (P170A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554778	NM_001112726.3(CEP170B):c.728C>T (p.Pro243Leu)	CEP170B (P173L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268317	NM_001112726.3(CEP170B):c.752A>T (p.Asp251Val)	CEP170B (D251V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037330	NM_001112726.3(CEP170B):c.753T>C (p.Asp251=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GLikely benign
Select item 781153	NM_001112726.3(CEP170B):c.776C>T (p.Ala259Val)	CEP170B (A189V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3142706	NM_001112726.3(CEP170B):c.794G>A (p.Ser265Asn)	CEP170B (S195N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038796	NM_001112726.3(CEP170B):c.813C>T (p.Ile271=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 2462659	NM_001112726.3(CEP170B):c.883C>T (p.Arg295Trp)	CEP170B (R225W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041289	NM_001112726.3(CEP170B):c.893C>T (p.Pro298Leu)	CEP170B (P228L +1 more)	Single nucleotide variant (missense variant)	CEP170B-related disorder	GBenign
Select item 3045284	NM_001112726.3(CEP170B):c.905C>T (p.Ala302Val)	CEP170B (A232V +1 more)	Single nucleotide variant (missense variant)	CEP170B-related disorder	GLikely benign
Select item 3049786	NM_001112726.3(CEP170B):c.936C>G (p.Thr312=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GLikely benign
Select item 2616467	NM_001112726.3(CEP170B):c.981C>G (p.His327Gln)	CEP170B (H257Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286524	NM_001112726.3(CEP170B):c.983G>A (p.Arg328Gln)	CEP170B (R258Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570185	NM_001112726.3(CEP170B):c.1003C>T (p.Arg335Cys)	CEP170B (R265C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336770	NM_001112726.3(CEP170B):c.1008C>G (p.His336Gln)	CEP170B (H266Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516346	NM_001112726.3(CEP170B):c.1039C>T (p.Arg347Cys)	CEP170B (R347C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142661	NM_001112726.3(CEP170B):c.1046T>C (p.Leu349Pro)	CEP170B (L349P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266077	NM_001112726.3(CEP170B):c.1058A>G (p.Lys353Arg)	CEP170B (K283R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060905	NM_001112726.3(CEP170B):c.1062C>T (p.His354=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 2382598	NM_001112726.3(CEP170B):c.1093C>T (p.Pro365Ser)	CEP170B (P295S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 978628	NM_001112726.3(CEP170B):c.1102A>G (p.Lys368Glu)	CEP170B (K298E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3060799	NM_001112726.3(CEP170B):c.1106C>T (p.Ala369Val)	CEP170B (A299V +1 more)	Single nucleotide variant (missense variant)	CEP170B-related disorder	GLikely benign
Select item 3060008	NM_001112726.3(CEP170B):c.1119T>C (p.Ala373=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 2252576	NM_001112726.3(CEP170B):c.1132G>A (p.Glu378Lys)	CEP170B (E378K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266082	NM_001112726.3(CEP170B):c.1153C>T (p.Arg385Trp)	CEP170B (R315W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052646	NM_001112726.3(CEP170B):c.1227C>T (p.Phe409=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GLikely benign
Select item 3058990	NM_001112726.3(CEP170B):c.1239A>G (p.Thr413=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 2299526	NM_001112726.3(CEP170B):c.1277C>T (p.Pro426Leu)	CEP170B (P356L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052783	NM_001112726.3(CEP170B):c.1296C>T (p.Ala432=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 3142663	NM_001112726.3(CEP170B):c.1306C>T (p.Arg436Cys)	CEP170B (R366C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214640	NM_001112726.3(CEP170B):c.1316C>T (p.Thr439Met)	CEP170B (T439M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041413	NM_001112726.3(CEP170B):c.1317G>A (p.Thr439=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GLikely benign
Select item 3055568	NM_001112726.3(CEP170B):c.1323C>T (p.Ala441=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GBenign
Select item 3266076	NM_001112726.3(CEP170B):c.1360G>T (p.Ala454Ser)	CEP170B (A454S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465722	NM_001112726.3(CEP170B):c.1364G>A (p.Gly455Glu)	CEP170B (G385E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142664	NM_001112726.3(CEP170B):c.1393G>A (p.Gly465Ser)	CEP170B (G395S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3142665	NM_001112726.3(CEP170B):c.1424G>A (p.Arg475Gln)	CEP170B (R475Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058761	NM_001112726.3(CEP170B):c.1425G>T (p.Arg475=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GLikely benign
Select item 2547003	NM_001112726.3(CEP170B):c.1433G>C (p.Ser478Thr)	CEP170B (S408T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040801	NM_001112726.3(CEP170B):c.1439C>T (p.Ser480Leu)	CEP170B (S410L +1 more)	Single nucleotide variant (missense variant)	CEP170B-related disorder	GLikely benign
Select item 2361712	NM_001112726.3(CEP170B):c.1451G>A (p.Arg484Gln)	CEP170B (R414Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050366	NM_001112726.3(CEP170B):c.1470C>T (p.Phe490=)	CEP170B	Single nucleotide variant (synonymous variant)	CEP170B-related disorder	GLikely benign
Select item 2316227	NM_001112726.3(CEP170B):c.1483C>T (p.Arg495Cys)	CEP170B (R495C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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