COBL[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	LOC126860033, LOC126860034 +426 more	Copy number loss	See cases	GPathogenic
Select item 145645	GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1	LOC113748397, LOC113748398 +200 more	Copy number loss	See cases	GPathogenic
Select item 2657504	NM_015198.5(COBL):c.3729C>T (p.Asp1243=)	COBL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2517419	NM_015198.5(COBL):c.3709G>A (p.Ala1237Thr)	COBL (A1190T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 726860	NM_015198.5(COBL):c.3702C>T (p.Thr1234=)	COBL	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2217267	NM_015198.5(COBL):c.3628C>T (p.Pro1210Ser)	COBL (P1210S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484173	NM_015198.5(COBL):c.3622C>T (p.Pro1208Ser)	COBL (P1208S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359888	NM_015198.5(COBL):c.3550G>A (p.Ala1184Thr)	COBL (A1184T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400554	NM_015198.5(COBL):c.3505G>T (p.Val1169Leu)	COBL (V1169L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2454210	NM_015198.5(COBL):c.3400G>A (p.Gly1134Arg)	COBL (G1134R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509889	NM_015198.5(COBL):c.3205A>G (p.Lys1069Glu)	COBL (K1069E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307729	NM_015198.5(COBL):c.3199G>C (p.Glu1067Gln)	COBL (E1067Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599926	NM_015198.5(COBL):c.3139G>A (p.Gly1047Ser)	COBL (G1047S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2368431	NM_015198.5(COBL):c.3074A>C (p.His1025Pro)	COBL (H1082P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548407	NM_015198.5(COBL):c.3067C>G (p.Pro1023Ala)	COBL (P1023A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351361	NM_015198.5(COBL):c.3056C>T (p.Thr1019Ile)	COBL (T1019I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545003	NM_015198.5(COBL):c.3041G>A (p.Arg1014His)	COBL (R1014H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2477629	NM_015198.5(COBL):c.2978G>A (p.Cys993Tyr)	COBL (C1050Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363360	NM_015198.5(COBL):c.2957G>A (p.Arg986His)	COBL (R1043H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2508243	NM_015198.5(COBL):c.2956C>T (p.Arg986Cys)	COBL (R986C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548007	NM_015198.5(COBL):c.2888C>T (p.Thr963Ile)	COBL (T1020I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258445	NM_015198.5(COBL):c.2855G>T (p.Gly952Val)	COBL (G1009V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393818	NM_015198.5(COBL):c.2853G>C (p.Arg951Ser)	COBL (R1008S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2514897	NM_015198.5(COBL):c.2776A>G (p.Lys926Glu)	COBL (K1008E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592840	NM_015198.5(COBL):c.2705T>C (p.Val902Ala)	COBL (V959A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657505	NM_015198.5(COBL):c.2672A>G (p.Tyr891Cys)	COBL (Y891C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2533015	NM_015198.5(COBL):c.2535G>T (p.Arg845Ser)	COBL (R845S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358867	NM_015198.5(COBL):c.2517G>A (p.Met839Ile)	COBL (M839I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2921024	NM_015198.5(COBL):c.2440A>G (p.Ile814Val)	COBL (I896V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2211271	NM_015198.5(COBL):c.2393C>G (p.Thr798Arg)	COBL (T798R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255494	NM_015198.5(COBL):c.2378C>A (p.Ser793Tyr)	COBL (S793Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410510	NM_015198.5(COBL):c.2375C>T (p.Pro792Leu)	COBL (P792L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321312	NM_015198.5(COBL):c.2330A>T (p.Glu777Val)	COBL (E834V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466793	NM_015198.5(COBL):c.2276C>G (p.Ala759Gly)	COBL (A841G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411615	NM_015198.5(COBL):c.2261C>T (p.Ser754Leu)	COBL (S754L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366062	NM_015198.5(COBL):c.2236G>A (p.Gly746Ser)	COBL (G746S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553057	NM_015198.5(COBL):c.2230G>A (p.Ala744Thr)	COBL (A826T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2360436	NM_015198.5(COBL):c.2161G>C (p.Asp721His)	COBL (D721H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467112	NM_015198.5(COBL):c.2132T>C (p.Ile711Thr)	COBL (I768T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657506	NM_015198.5(COBL):c.1974G>A (p.Glu658=)	COBL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2568811	NM_015198.5(COBL):c.1969G>A (p.Gly657Arg)	COBL (G657R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611208	NM_015198.5(COBL):c.1968C>G (p.Asp656Glu)	COBL (D656E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1273872	NM_015198.5(COBL):c.1963G>C (p.Ala655Pro)	COBL (A655P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2512689	NM_015198.5(COBL):c.1958G>A (p.Gly653Asp)	COBL (G710D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223566	NM_015198.5(COBL):c.1828G>A (p.Gly610Arg)	COBL (G610R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477171	NM_015198.5(COBL):c.1817A>G (p.Asp606Gly)	COBL (D663G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 769717	NM_015198.5(COBL):c.1801C>T (p.His601Tyr)	COBL (H601Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2509163	NM_015198.5(COBL):c.1706C>T (p.Ser569Leu)	COBL (S626L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409448	NM_015198.5(COBL):c.1631T>C (p.Ile544Thr)	COBL (I544T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403764	NM_015198.5(COBL):c.1568A>G (p.Asn523Ser)	COBL (N523S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 774653	NM_015198.5(COBL):c.1538C>T (p.Ser513Phe)	COBL (S513F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2356845	NM_015198.5(COBL):c.1469G>A (p.Arg490His)	COBL (R490H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2288367	NM_015198.5(COBL):c.1273A>G (p.Ser425Gly)	COBL (S425G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272249	NM_015198.5(COBL):c.1230G>A (p.Met410Ile)	COBL (M467I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349415	NM_015198.5(COBL):c.1126T>G (p.Cys376Gly)	COBL (C376G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594433	NM_015198.5(COBL):c.1001G>A (p.Arg334Gln)	COBL (R334Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 917805	NM_015198.5(COBL):c.958-41_960del	COBL	Deletion (splice acceptor variant)	not specified	GUncertain significance
Select item 2587932	NM_015198.5(COBL):c.950C>T (p.Ser317Leu)	COBL (S317L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595322	NM_015198.5(COBL):c.898C>T (p.Arg300Cys)	COBL (R325C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369035	NM_015198.5(COBL):c.889A>G (p.Met297Val)	COBL (M322V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322539	NM_015198.5(COBL):c.884C>T (p.Ser295Leu)	COBL (S295L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525936	NM_015198.5(COBL):c.877G>A (p.Val293Met)	COBL (V293M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533451	NM_015198.5(COBL):c.779G>A (p.Ser260Asn)	COBL (S260N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791289	NM_015198.5(COBL):c.666C>T (p.Tyr222=)	COBL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2518605	NM_015198.5(COBL):c.602A>G (p.Asn201Ser)	COBL (N201S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219905	NM_015198.5(COBL):c.394G>A (p.Val132Met)	COBL (V132M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253709	NM_015198.5(COBL):c.385G>A (p.Val129Met)	COBL (V129M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540545	NM_015198.5(COBL):c.376A>G (p.Thr126Ala)	COBL (T126A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235237	NM_015198.5(COBL):c.372T>G (p.Ile124Met)	COBL (I124M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276140	NM_015198.5(COBL):c.251C>T (p.Ala84Val)	COBL (A84V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 91989	NM_015198.5(COBL):c.215G>T (p.Gly72Val)	COBL (G72V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2518521	NM_015198.5(COBL):c.187A>G (p.Met63Val)	COBL (M63V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2486920	NM_015198.5(COBL):c.187A>T (p.Met63Leu)	COBL (M63L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 722670	NM_015198.5(COBL):c.171G>A (p.Ala57=)	COBL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786107	NM_015198.5(COBL):c.141G>A (p.Ser47=)	COBL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2599997	NM_015198.5(COBL):c.121C>G (p.His41Asp)	COBL (H41D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 155341	GRCh38/hg38 7p12.1(chr7:51241591-52097376)x3	COBL, LOC107986794 +8 more	Copy number gain	See cases	GUncertain significance
Select item 2598463	NM_015198.5(COBL):c.40G>C (p.Gly14Arg)	COBL (G14R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276080	NM_015198.5(COBL):c.11C>G (p.Pro4Arg)	COBL (P4R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685240	GRCh37/hg19 7p12.1(chr7:50617859-52201563)x1	COBL, DDC +1 more	Copy number loss	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1340646	GRCh37/hg19 7p12.1(chr7:51217906-51328561)x1	COBL	Copy number loss	not provided	GUncertain significance
Select item 1340467	GRCh37/hg19 7p12.1(chr7:51142796-51440184)x3	COBL	Copy number gain	not provided	GUncertain significance
Select item 979750	GRCh37/hg19 7p12.1(chr7:50938947-51376558)x3	COBL	Copy number gain	not provided	GUncertain significance
Select item 687984	GRCh37/hg19 7p12.1(chr7:50873282-51113681)x3	COBL	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 685175	GRCh37/hg19 7p12.1(chr7:50978109-51377859)x3	COBL	Copy number gain	not provided	GUncertain significance
Select item 684947	GRCh37/hg19 7p12.1(chr7:51287201-51316816)x1	COBL	Copy number loss	not provided	GUncertain significance
Select item 684945	GRCh37/hg19 7p12.1(chr7:51287201-51316816)x1	COBL	Copy number loss	not provided	GUncertain significance
Select item 599188	Single allele	COBL	Duplication	Silver Russell Syndrome-related disorder	GUncertain significance
Select item 563303	GRCh37/hg19 7p12.1(chr7:51188386-51313596)x1	COBL	Copy number loss	not provided	GLikely benign
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	ABCA13, ABCB5 +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395472	GRCh37/hg19 7p12.1(chr7:50981149-51358173)x3	COBL	Copy number gain	See cases	GLikely benign
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

ClinVar

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Items: 100