ClinVar for Gene (Select 1272) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3146729	NM_001843.4(CNTN1):c.2993T>C (p.Leu998Pro)	CNTN1 (L987P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3146728	NM_001843.4(CNTN1):c.2528G>A (p.Arg843Gln)	CNTN1 (R843Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146726	NM_001843.4(CNTN1):c.2435C>T (p.Pro812Leu)	CNTN1 (P812L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146725	NM_001843.4(CNTN1):c.1391G>C (p.Trp464Ser)	CNTN1 (W453S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069138	CNTN1, EX2-15DEL and EX18-19DEL	CNTN1	Deletion	Compton-North congenital myopathy	GPathogenic
Select item 3063272	GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3	ABCD2, ADAMTS20 +34 more	Copy number gain	not specified	GPathogenic
Select item 3057569	NM_001843.4(CNTN1):c.227+7T>C	CNTN1	Single nucleotide variant (intron variant)	CNTN1-related disorder	GLikely benign
Select item 3053881	NM_001843.4(CNTN1):c.2787T>G (p.Val929=)	CNTN1	Single nucleotide variant (synonymous variant)	CNTN1-related disorder	GLikely benign
Select item 3045858	NM_001843.4(CNTN1):c.2184+9T>G	CNTN1	Single nucleotide variant (intron variant)	CNTN1-related disorder	GLikely benign
Select item 3018880	NM_001843.4(CNTN1):c.1746A>G (p.Thr582=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 3005875	NM_001843.4(CNTN1):c.1719G>T (p.Ala573=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 2997007	NM_001843.4(CNTN1):c.739C>T (p.Gln247Ter)	CNTN1 (Q236* +1 more)	Single nucleotide variant (nonsense)	Compton-North congenital myopathy	GPathogenic
Select item 2995467	NM_001843.4(CNTN1):c.482dup (p.Tyr162fs)	CNTN1 (Y151fs +1 more)	Duplication (frameshift variant)	Compton-North congenital myopathy	GPathogenic
Select item 2985159	NM_001843.4(CNTN1):c.2184+15G>C	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2977399	NM_001843.4(CNTN1):c.756T>C (p.Tyr252=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 2966393	NM_001843.4(CNTN1):c.227+12C>T	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2963088	NM_001843.4(CNTN1):c.227+13G>A	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2956401	NM_001843.4(CNTN1):c.2524-16T>C	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2916228	NM_001843.4(CNTN1):c.720T>C (p.Tyr240=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 2916095	NM_001843.4(CNTN1):c.2484T>C (p.His828=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 2912592	NM_001843.4(CNTN1):c.95-5T>C	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2912066	NM_001843.4(CNTN1):c.2114-15del	CNTN1	Deletion (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2910519	NM_001843.4(CNTN1):c.1711C>T (p.Arg571Ter)	CNTN1 (R560* +1 more)	Single nucleotide variant (nonsense)	Compton-North congenital myopathy	GPathogenic
Select item 2899708	NM_001843.4(CNTN1):c.2088T>C (p.Ser696=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 2897732	NM_001843.4(CNTN1):c.1804+13A>C	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2886308	NM_001843.4(CNTN1):c.704-1G>A	CNTN1	Single nucleotide variant (splice acceptor variant)	Compton-North congenital myopathy	GLikely pathogenic
Select item 2875068	NM_001843.4(CNTN1):c.94+2T>C	CNTN1	Single nucleotide variant (splice donor variant +1 more)	Compton-North congenital myopathy	GLikely pathogenic
Select item 2869585	NM_001843.4(CNTN1):c.804-7T>C	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2850371	NM_001843.4(CNTN1):c.1805-17C>T	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2844497	NM_001843.4(CNTN1):c.56T>C (p.Leu19Ser)	CNTN1 (L19S)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GLikely benign
Select item 2809600	NM_001843.4(CNTN1):c.621C>A (p.Gly207=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 2786048	NM_001843.4(CNTN1):c.1507+17G>A	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2780513	NM_001843.4(CNTN1):c.1295T>A (p.Val432Glu)	CNTN1 (V432E +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 2780475	NM_001843.4(CNTN1):c.2981-12T>C	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2779337	NM_001843.4(CNTN1):c.573G>A (p.Gln191=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 2761413	NM_001843.4(CNTN1):c.2016C>T (p.Ile672=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 2747829	NM_001843.4(CNTN1):c.3054C>T (p.Phe1018=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 2742506	NM_001843.4(CNTN1):c.2824-15T>A	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2737556	NM_001843.4(CNTN1):c.1964-17C>A	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2732631	NM_001843.4(CNTN1):c.2754T>A (p.Gly918=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 2727445	NM_001843.4(CNTN1):c.2169G>T (p.Leu723=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 2724673	NM_001843.4(CNTN1):c.2823+18T>C	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2724316	NM_001843.4(CNTN1):c.1110+16T>G	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2724003	NM_001843.4(CNTN1):c.438C>T (p.Val146=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 2723902	NM_001843.4(CNTN1):c.2769C>T (p.Ile923=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 2723138	NM_001843.4(CNTN1):c.1508-13del	CNTN1	Deletion (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2710377	NM_001843.4(CNTN1):c.946A>C (p.Arg316=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 2703529	NM_001843.4(CNTN1):c.2367C>T (p.Asn789=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 2688804	NM_001843.4(CNTN1):c.2396C>T (p.Ala799Val)	CNTN1 (A788V +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 2558509	NM_001843.4(CNTN1):c.2173A>G (p.Ile725Val)	CNTN1 (I725V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545783	NM_001843.4(CNTN1):c.427C>G (p.Arg143Gly)	CNTN1 (R132G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525431	NM_001843.4(CNTN1):c.2447G>A (p.Gly816Asp)	CNTN1 (G805D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482821	NM_001843.4(CNTN1):c.1151A>G (p.Glu384Gly)	CNTN1 (E373G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475891	NM_001843.4(CNTN1):c.2542C>A (p.His848Asn)	CNTN1 (H837N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2428436	NM_001843.4(CNTN1):c.20T>A (p.Val7Asp)	CNTN1 (V7D)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 2424252	NC_000012.11:g.(?_41408010)_(41423041_?)del	CNTN1	Deletion	Compton-North congenital myopathy	GUncertain significance
Select item 2421744	NM_001843.4(CNTN1):c.1590T>C (p.Phe530=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 2419834	NM_001843.4(CNTN1):c.1398T>C (p.Asp466=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 2418825	NM_001843.4(CNTN1):c.2711-19A>G	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2413919	NM_001843.4(CNTN1):c.618A>C (p.Lys206Asn)	CNTN1 (K195N +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 2335030	NM_001843.4(CNTN1):c.184T>G (p.Ser62Ala)	CNTN1 (S51A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328552	NM_001843.4(CNTN1):c.949G>A (p.Gly317Arg)	CNTN1 (G306R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325207	NM_001843.4(CNTN1):c.185C>T (p.Ser62Leu)	CNTN1 (S62L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288715	NM_001843.4(CNTN1):c.1027G>A (p.Asp343Asn)	CNTN1 (D332N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256446	NM_001843.4(CNTN1):c.1931T>G (p.Ile644Ser)	CNTN1 (I644S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245608	NM_001843.4(CNTN1):c.3037C>A (p.Leu1013Ile)	CNTN1 (L1002I +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy +1 more	GUncertain significance
Select item 2202448	NM_001843.4(CNTN1):c.2167C>G (p.Leu723Val)	CNTN1 (L723V +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 2201451	NM_001843.4(CNTN1):c.692C>T (p.Pro231Leu)	CNTN1 (P231L +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 2201221	NM_001843.4(CNTN1):c.1789G>C (p.Asp597His)	CNTN1 (D586H +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 2200050	NM_001843.4(CNTN1):c.2930G>A (p.Arg977His)	CNTN1 (R966H +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 2198595	NM_001843.4(CNTN1):c.1116T>G (p.His372Gln)	CNTN1 (H361Q +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 2198221	NM_001843.4(CNTN1):c.441A>G (p.Arg147=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 2197998	NM_001843.4(CNTN1):c.803+14C>T	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2195948	NM_001843.4(CNTN1):c.2710+12G>A	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2191498	NM_001843.4(CNTN1):c.2523+5G>A	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GUncertain significance
Select item 2186450	NM_001843.4(CNTN1):c.497-19A>T	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2181325	NM_001843.4(CNTN1):c.1491A>T (p.Gly497=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 2179956	NM_001843.4(CNTN1):c.281T>C (p.Val94Ala)	CNTN1 (V94A +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy +1 more	GUncertain significance
Select item 2174268	NM_001843.4(CNTN1):c.1508-4A>G	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2165389	NM_001843.4(CNTN1):c.496+20_496+23del	CNTN1	Deletion (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2165363	NM_001843.4(CNTN1):c.436G>A (p.Val146Ile)	CNTN1 (V135I +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 2163651	NM_001843.4(CNTN1):c.221T>G (p.Val74Gly)	CNTN1 (V63G +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 2162649	NM_001843.4(CNTN1):c.480C>T (p.Pro160=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 2158673	NM_001843.4(CNTN1):c.1110+15G>A	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2152818	NM_001843.4(CNTN1):c.409C>G (p.Pro137Ala)	CNTN1 (P126A +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 2141828	NM_001843.4(CNTN1):c.2113+7A>G	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2141534	NM_001843.4(CNTN1):c.2896A>G (p.Ile966Val)	CNTN1 (I955V +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 2140838	NM_001843.4(CNTN1):c.497-16C>T	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2132358	NM_001843.4(CNTN1):c.1636G>C (p.Val546Leu)	CNTN1 (V535L +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 2131651	NM_001843.4(CNTN1):c.2454A>G (p.Lys818=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 2128711	NM_001843.4(CNTN1):c.2725C>G (p.Pro909Ala)	CNTN1 (P898A +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 2126618	NM_001843.4(CNTN1):c.268C>T (p.Arg90Ter)	CNTN1 (R90* +1 more)	Single nucleotide variant (nonsense)	Compton-North congenital myopathy	GPathogenic
Select item 2122612	NM_001843.4(CNTN1):c.701_703dup (p.Glu234_Arg235insGln)	CNTN1	Duplication (inframe_insertion)	Compton-North congenital myopathy	GUncertain significance
Select item 2119908	NM_001843.4(CNTN1):c.1874G>T (p.Ser625Ile)	CNTN1 (S625I +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 2115432	NM_001843.4(CNTN1):c.1804+16T>A	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2113800	NM_001843.4(CNTN1):c.1641C>A (p.Ile547=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 2110055	NM_001843.4(CNTN1):c.2153G>A (p.Gly718Glu)	CNTN1 (G707E +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 2097193	NM_001843.4(CNTN1):c.2524-9T>C	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2093874	NM_001843.4(CNTN1):c.2139A>G (p.Val713=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 2090859	NM_001843.4(CNTN1):c.2185-6A>G	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign

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