COBLL1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 57318	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1	BAZ2B, BAZ2B-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 148507	GRCh38/hg38 2q24.3(chr2:163419387-165682938)x1	COBLL1, CSRNP3 +26 more	Copy number loss	See cases	GLikely pathogenic
Select item 60245	GRCh38/hg38 2q24.3(chr2:163455290-166962322)x1	COBLL1, CSRNP3 +38 more	Copy number loss	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 148708	GRCh38/hg38 2q24.3(chr2:164220427-164906646)x1	COBLL1, GRB14 +7 more	Copy number loss	See cases	GUncertain significance
Select item 3268440	NM_001365672.2(COBLL1):c.3215C>T (p.Thr1072Ile)	COBLL1 (T1117I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549590	NM_001365672.2(COBLL1):c.3205A>G (p.Ser1069Gly)	COBLL1 (S1082G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268442	NM_001365672.2(COBLL1):c.3089T>C (p.Phe1030Ser)	COBLL1 (F1089S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265253	NM_001365672.2(COBLL1):c.3077C>A (p.Ser1026Tyr)	COBLL1 (S1039Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147054	NM_001365672.2(COBLL1):c.3014A>C (p.Glu1005Ala)	COBLL1 (E1051A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147053	NM_001365672.2(COBLL1):c.3007C>T (p.Arg1003Cys)	COBLL1 (R1016C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351678	NM_001365672.2(COBLL1):c.2998A>C (p.Ser1000Arg)	COBLL1 (S1038R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293435	NM_001365672.2(COBLL1):c.2960C>T (p.Pro987Leu)	COBLL1 (P1000L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519287	NM_001365672.2(COBLL1):c.2849C>A (p.Pro950His)	COBLL1 (P950H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381421	NM_001365672.2(COBLL1):c.2818G>A (p.Gly940Ser)	COBLL1 (G1045S +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3147051	NM_001365672.2(COBLL1):c.2719G>A (p.Asp907Asn)	COBLL1 (D952N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233782	NM_001365672.2(COBLL1):c.2710G>A (p.Ala904Thr)	COBLL1 (A904T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268428	NM_001365672.2(COBLL1):c.2686C>G (p.Pro896Ala)	COBLL1 (P934A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147050	NM_001365672.2(COBLL1):c.2671G>A (p.Ala891Thr)	COBLL1 (A936T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508437	NM_001365672.2(COBLL1):c.2627C>T (p.Ser876Leu)	COBLL1 (S914L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392054	NM_001365672.2(COBLL1):c.2621G>C (p.Arg874Thr)	COBLL1 (R933T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147049	NM_001365672.2(COBLL1):c.2575A>G (p.Asn859Asp)	COBLL1 (N872D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307497	NM_001365672.2(COBLL1):c.2446G>A (p.Asp816Asn)	COBLL1 (D862N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293146	NM_001365672.2(COBLL1):c.2426C>T (p.Pro809Leu)	COBLL1 (P809L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651475	NM_001365672.2(COBLL1):c.2400T>G (p.Pro800=)	COBLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2606473	NM_001365672.2(COBLL1):c.2316T>A (p.Asn772Lys)	COBLL1 (N772K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569218	NM_001365672.2(COBLL1):c.2305A>C (p.Thr769Pro)	COBLL1 (T782P +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227946	NM_001365672.2(COBLL1):c.2203A>G (p.Lys735Glu)	COBLL1 (K780E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147047	NM_001365672.2(COBLL1):c.2198C>T (p.Thr733Ile)	COBLL1 (T771I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147046	NM_001365672.2(COBLL1):c.2197A>G (p.Thr733Ala)	COBLL1 (T733A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268433	NM_001365672.2(COBLL1):c.2143C>T (p.Pro715Ser)	COBLL1 (P753S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147045	NM_001365672.2(COBLL1):c.2038C>A (p.His680Asn)	COBLL1 (H739N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556927	NM_001365672.2(COBLL1):c.2020A>G (p.Lys674Glu)	COBLL1 (K687E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395127	NM_001365672.2(COBLL1):c.2009C>T (p.Pro670Leu)	COBLL1 (P716L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268443	NM_001365672.2(COBLL1):c.1954A>C (p.Asn652His)	COBLL1 (N697H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147044	NM_001365672.2(COBLL1):c.1887A>T (p.Glu629Asp)	COBLL1 (E629D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553849	NM_001365672.2(COBLL1):c.1859A>G (p.His620Arg)	COBLL1 (H620R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268436	NM_001365672.2(COBLL1):c.1847A>G (p.Lys616Arg)	COBLL1 (K616R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307590	NM_001365672.2(COBLL1):c.1762G>A (p.Asp588Asn)	COBLL1 (D601N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603313	NM_001365672.2(COBLL1):c.1714A>G (p.Thr572Ala)	COBLL1 (T572A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526055	NM_001365672.2(COBLL1):c.1708A>C (p.Thr570Pro)	COBLL1 (T615P +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365372	NM_001365672.2(COBLL1):c.1643G>A (p.Gly548Asp)	COBLL1 (G593D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365893	NM_001365672.2(COBLL1):c.1516A>G (p.Ile506Val)	COBLL1 (I506V +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2206632	NM_001365672.2(COBLL1):c.1501A>C (p.Lys501Gln)	COBLL1 (K501Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147043	NM_001365672.2(COBLL1):c.1493A>G (p.Asn498Ser)	COBLL1 (N498S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325588	NM_001365672.2(COBLL1):c.1484A>T (p.Asp495Val)	COBLL1 (D508V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272793	NM_001365672.2(COBLL1):c.1465C>G (p.Pro489Ala)	COBLL1 (P489A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618543	NM_001365672.2(COBLL1):c.1431A>T (p.Glu477Asp)	COBLL1 (E536D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147042	NM_001365672.2(COBLL1):c.1372G>T (p.Asp458Tyr)	COBLL1 (D517Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214629	NM_001365672.2(COBLL1):c.1358A>T (p.Asn453Ile)	COBLL1 (N466I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286631	NM_001365672.2(COBLL1):c.1269G>T (p.Lys423Asn)	COBLL1 (K462N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596031	NM_001365672.2(COBLL1):c.1232T>G (p.Ile411Arg)	COBLL1 (I470R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616594	NM_001365672.2(COBLL1):c.1229G>A (p.Gly410Glu)	COBLL1 (G423E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319203	NM_001365672.2(COBLL1):c.1225+1313C>T	COBLL1 (P505S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333951	NM_001365672.2(COBLL1):c.1225+1238G>A	COBLL1 (G414R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544746	NM_001365672.2(COBLL1):c.1219A>G (p.Ser407Gly)	COBLL1 (S453G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268437	NM_001365672.2(COBLL1):c.1217C>G (p.Ser406Cys)	COBLL1 (S452C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268438	NM_001365672.2(COBLL1):c.1196C>A (p.Ala399Glu)	COBLL1 (A399E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591004	NM_001365672.2(COBLL1):c.1142G>A (p.Arg381His)	COBLL1 (R381H +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2308387	NM_001365672.2(COBLL1):c.1141C>T (p.Arg381Cys)	COBLL1 (R394C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147040	NM_001365672.2(COBLL1):c.1129G>C (p.Asp377His)	COBLL1 (D390H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554995	NM_001365672.2(COBLL1):c.1048A>G (p.Met350Val)	COBLL1 (M350V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268431	NM_001365672.2(COBLL1):c.992A>C (p.Asp331Ala)	COBLL1 (D377A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399445	NM_001365672.2(COBLL1):c.977G>A (p.Ser326Asn)	COBLL1 (S372N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147058	NM_001365672.2(COBLL1):c.949C>T (p.Pro317Ser)	COBLL1 (P330S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268434	NM_001365672.2(COBLL1):c.943G>A (p.Glu315Lys)	COBLL1 (E315K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268444	NM_001365672.2(COBLL1):c.896C>G (p.Pro299Arg)	COBLL1 (P312R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489047	NM_001365672.2(COBLL1):c.896C>T (p.Pro299Leu)	COBLL1 (P312L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592537	NM_001365672.2(COBLL1):c.857C>T (p.Pro286Leu)	COBLL1 (P299L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147057	NM_001365672.2(COBLL1):c.839A>G (p.Tyr280Cys)	COBLL1 (Y293C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268435	NM_001365672.2(COBLL1):c.787G>C (p.Val263Leu)	COBLL1 (V309L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457066	NM_001365672.2(COBLL1):c.787G>A (p.Val263Ile)	COBLL1 (V276I +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3268432	NM_001365672.2(COBLL1):c.603G>C (p.Leu201Phe)	COBLL1 (L254F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554507	NM_001365672.2(COBLL1):c.592C>G (p.Pro198Ala)	COBLL1 (P198A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147056	NM_001365672.2(COBLL1):c.551C>T (p.Pro184Leu)	COBLL1 (P230L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394509	NM_001365672.2(COBLL1):c.449T>C (p.Val150Ala)	COBLL1 (V150A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147055	NM_001365672.2(COBLL1):c.379A>G (p.Ile127Val)	COBLL1 (I127V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396395	NM_001365672.2(COBLL1):c.311C>T (p.Ser104Leu)	COBLL1 (S150L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268429	NM_001365672.2(COBLL1):c.304C>A (p.Leu102Met)	COBLL1 (L102M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600831	NM_001365672.2(COBLL1):c.295A>G (p.Thr99Ala)	COBLL1 (T152A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268441	NM_001365672.2(COBLL1):c.263G>C (p.Cys88Ser)	COBLL1 (C134S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204083	NM_001365672.2(COBLL1):c.224A>G (p.His75Arg)	COBLL1 (H75R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300312	NM_001365672.2(COBLL1):c.170A>T (p.Asp57Val)	COBLL1 (D110V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352203	NM_001365672.2(COBLL1):c.29A>G (p.Asp10Gly)	COBLL1, LOC101929633 (D56G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147052	NM_001365672.2(COBLL1):c.28G>A (p.Asp10Asn)	COBLL1, LOC101929633 (D56N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526929	GRCh37/hg19 2q24.3(chr2:165428510-166888012)	COBLL1, CSRNP3 +7 more	Copy number loss	not specified	GPathogenic
Select item 1526927	GRCh37/hg19 2q24.2-24.3(chr2:163168812-167567296)	COBLL1, CSRNP3 +13 more	Copy number gain	not specified	GPathogenic
Select item 1526925	GRCh37/hg19 2q24.2-24.3(chr2:161551326-167762790)	COBLL1, CSRNP3 +21 more	Copy number loss	not specified	GPathogenic
Select item 1339653	GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	METTL8, PSMD14 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 814339	GRCh37/hg19 2q24.3(chr2:165676080-165768131)x1	COBLL1, SLC38A11	Copy number loss	not provided	GUncertain significance
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 635918	NC_000002.11:g.165492423_165973543dup	COBLL1, SCN3A +1 more	Duplication	Epilepsy	GUncertain significance
Select item 626293	Single allele	COBLL1, CSRNP3 +18 more	Deletion	not provided	GPathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response

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