28920[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	ACTN2, ADSS2 +271 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +302 more	Copy number loss	See cases	GPathogenic
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +283 more	Copy number loss	See cases	GPathogenic
Select item 60117	GRCh38/hg38 1q43-44(chr1:237906379-244022201)x1	AKT3, AKT3-IT1 +55 more	Copy number loss	See cases	GPathogenic
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 144759	GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +278 more	Copy number loss	See cases	GPathogenic
Select item 60149	GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1	LOC132088686, LOC440742 +277 more	Copy number loss	See cases	GPathogenic
Select item 60150	GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1	ADSS2, AHCTF1 +277 more	Copy number loss	See cases	GPathogenic
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	ADSS2, AHCTF1 +275 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 58142	GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3	KMO, LINC01341 +274 more	Copy number gain	See cases	GPathogenic
Select item 148185	GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1	ADSS2, AHCTF1 +273 more	Copy number loss	See cases	GPathogenic
Select item 60151	GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1	ADSS2, AHCTF1 +265 more	Copy number loss	See cases	GPathogenic
Select item 60152	GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1	ADSS2, AHCTF1 +184 more	Copy number loss	See cases	GPathogenic
Select item 147285	GRCh38/hg38 1q43-44(chr1:241625115-245453782)x3	ADSS2, AKT3 +87 more	Copy number gain	See cases	GPathogenic
Select item 60153	GRCh38/hg38 1q43-44(chr1:241676908-245647727)x1	ADSS2, AKT3 +87 more	Copy number loss	See cases	GPathogenic
Select item 60154	GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1	OR2T34, OR2T35 +254 more	Copy number loss	See cases	GPathogenic
Select item 149180	GRCh38/hg38 1q43-44(chr1:241967139-245542967)x3	ADSS2, AKT3 +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 151131	GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1	ADSS2, AHCTF1 +244 more	Copy number loss	See cases	GPathogenic
Select item 243062	Single allele	AKT3, AKT3-IT1 +33 more	Deletion	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2579277	GRCh38/hg38 1q43-44(chr1:242164274-245299473)x1	ADSS2, AKT3 +73 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 60156	GRCh38/hg38 1q43-44(chr1:242240797-245200164)x1	ADSS2, AKT3 +70 more	Copy number loss	See cases	GPathogenic
Select item 660672	NC_000001.11:g.(?_242268256)_(243843190_?)del	LOC122152351, AKT3 +15 more	Deletion	Senior-Loken syndrome 7 +1 more	GPathogenic
Select item 60157	GRCh38/hg38 1q43-44(chr1:242410569-245413313)x1	ADSS2, AKT3 +73 more	Copy number loss	See cases	GPathogenic
Select item 148403	GRCh38/hg38 1q43(chr1:242475494-243242152)x3	CEP170, LINC01347 +4 more	Copy number gain	See cases	GLikely benign
Select item 2582786	GRCh38/hg38 1q43-44(chr1:242520315-246857912)x1	LOC126806079, LOC126806080 +119 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 155625	GRCh38/hg38 1q43(chr1:242653815-243189066)x3	CEP170, LINC01347 +2 more	Copy number gain	See cases	GUncertain significance
Select item 151741	GRCh38/hg38 1q43-44(chr1:242782194-245138126)x3	ADSS2, AKT3 +65 more	Copy number gain	See cases	GUncertain significance
Select item 59654	GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3	TFB2M, TRE-CTC2-1 +238 more	Copy number gain	See cases	GPathogenic
Select item 148071	GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4	ADSS2, AHCTF1 +231 more	Copy number gain	See cases	GPathogenic
Select item 2393571	NM_014812.3(CEP170):c.4603A>G (p.Thr1535Ala)	CEP170 (T1437A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484248	NM_014812.3(CEP170):c.4587C>G (p.Ser1529Arg)	CEP170 (S1431R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336170	NM_014812.3(CEP170):c.4582C>T (p.His1528Tyr)	CEP170 (H1404Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410916	NM_014812.3(CEP170):c.4570G>A (p.Val1524Met)	CEP170 (V1400M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2370702	NM_014812.3(CEP170):c.4550C>T (p.Pro1517Leu)	CEP170 (P1419L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266060	NM_014812.3(CEP170):c.4382G>A (p.Ser1461Asn)	CEP170 (S1461N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770336	NM_014812.3(CEP170):c.4319+9A>T	CEP170	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2207613	NM_014812.3(CEP170):c.4295T>C (p.Ile1432Thr)	CEP170 (I1432T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142657	NM_014812.3(CEP170):c.4294A>G (p.Ile1432Val)	CEP170 (I1334V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516097	NM_014812.3(CEP170):c.4276A>G (p.Lys1426Glu)	CEP170 (K1426E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376648	NM_014812.3(CEP170):c.4261G>A (p.Val1421Ile)	CEP170 (V1421I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355932	NM_014812.3(CEP170):c.4245T>A (p.Asn1415Lys)	CEP170 (N1291K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266053	NM_014812.3(CEP170):c.4175C>G (p.Ala1392Gly)	CEP170 (A1392G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142655	NM_014812.3(CEP170):c.4150T>C (p.Ser1384Pro)	CEP170 (S1384P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544377	NM_014812.3(CEP170):c.4118A>G (p.His1373Arg)	CEP170 (H1275R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142654	NM_014812.3(CEP170):c.4102A>T (p.Ile1368Phe)	CEP170 (I1244F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142652	NM_014812.3(CEP170):c.3928G>A (p.Ala1310Thr)	CEP170 (A1212T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154601	GRCh38/hg38 1q43-44(chr1:243145749-244433395)x1	LOC112577566, LOC122152351 +27 more	Copy number loss	See cases	GPathogenic
Select item 781679	NM_014812.3(CEP170):c.3873C>T (p.Tyr1291=)	CEP170	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2610300	NM_014812.3(CEP170):c.3849C>G (p.His1283Gln)	CEP170 (H1149Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773423	NM_014812.3(CEP170):c.3823A>G (p.Met1275Val)	CEP170 (M1141V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3266061	NM_014812.3(CEP170):c.3817T>A (p.Ser1273Thr)	CEP170 (S1139T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615124	NM_014812.3(CEP170):c.3809G>T (p.Ser1270Ile)	CEP170 (S1136I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309338	NM_014812.3(CEP170):c.3799C>T (p.Arg1267Cys)	CEP170 (R1133C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266067	NM_014812.3(CEP170):c.3797C>T (p.Thr1266Ile)	CEP170 (T1132I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266056	NM_014812.3(CEP170):c.3682T>G (p.Ser1228Ala)	CEP170 (S1130A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266055	NM_014812.3(CEP170):c.3680A>G (p.Asn1227Ser)	CEP170 (N1129S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266054	NM_014812.3(CEP170):c.3616A>G (p.Ile1206Val)	CEP170 (I1108V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142651	NM_014812.3(CEP170):c.3575T>C (p.Val1192Ala)	CEP170 (V1192A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545252	NM_014812.3(CEP170):c.3571C>G (p.Leu1191Val)	CEP170 (L1093V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142650	NM_014812.3(CEP170):c.3550A>G (p.Ile1184Val)	CEP170 (I1184V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142649	NM_014812.3(CEP170):c.3508A>G (p.Thr1170Ala)	CEP170 (T1072A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600020	NM_014812.3(CEP170):c.3488C>T (p.Ala1163Val)	CEP170 (A1163V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640212	NM_014812.3(CEP170):c.3477C>T (p.Gly1159=)	CEP170	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2463293	NM_014812.3(CEP170):c.3460C>T (p.Arg1154Cys)	CEP170 (R1154C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480700	NM_014812.3(CEP170):c.3326G>C (p.Gly1109Ala)	CEP170 (G1011A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266050	NM_014812.3(CEP170):c.3287G>A (p.Arg1096Gln)	CEP170 (R1096Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270610	NM_014812.3(CEP170):c.3239C>T (p.Pro1080Leu)	CEP170 (P1080L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359215	NM_014812.3(CEP170):c.3221C>T (p.Thr1074Met)	CEP170 (T976M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266059	NM_014812.3(CEP170):c.3155A>G (p.His1052Arg)	CEP170 (H1052R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258647	NM_014812.3(CEP170):c.3146G>T (p.Cys1049Phe)	CEP170 (C1049F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266068	NM_014812.3(CEP170):c.3120G>A (p.Met1040Ile)	CEP170 (M1040I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601563	NM_014812.3(CEP170):c.3118A>C (p.Met1040Leu)	CEP170 (M1040L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142647	NM_014812.3(CEP170):c.3115A>G (p.Ile1039Val)	CEP170 (I941V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142646	NM_014812.3(CEP170):c.3035G>T (p.Ser1012Ile)	CEP170 (S1012I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142645	NM_014812.3(CEP170):c.2894A>G (p.Asp965Gly)	CEP170 (D867G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467839	NM_014812.3(CEP170):c.2725C>T (p.Arg909Cys)	CEP170 (R909C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599934	NM_014812.3(CEP170):c.2674C>T (p.Leu892Phe)	CEP170 (L794F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640213	NM_014812.3(CEP170):c.2627G>A (p.Arg876Gln)	CEP170 (R778Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2266720	NM_014812.3(CEP170):c.2536C>T (p.Pro846Ser)	CEP170 (P846S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142644	NM_014812.3(CEP170):c.2522T>C (p.Ile841Thr)	CEP170 (I841T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142643	NM_014812.3(CEP170):c.2483A>C (p.Glu828Ala)	CEP170 (E828A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291939	NM_014812.3(CEP170):c.2474A>T (p.Asp825Val)	CEP170 (D727V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556590	NM_014812.3(CEP170):c.2468G>T (p.Gly823Val)	CEP170 (G725V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266057	NM_014812.3(CEP170):c.2419A>C (p.Ser807Arg)	CEP170 (S709R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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