Related gene-specific medical variations for Gene (Select 152330) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268296	NM_175607.3(CNTN4):c.2959A>G (p.Ile987Val)	CNTN4, CNTN4-AS1 (I987V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146767	NM_175607.3(CNTN4):c.3040A>G (p.Ser1014Gly)	CNTN4, CNTN4-AS1 (S1014G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146766	NM_175607.3(CNTN4):c.3004G>A (p.Ala1002Thr)	CNTN4, CNTN4-AS1 (A673T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146765	NM_175607.3(CNTN4):c.2798T>G (p.Val933Gly)	CNTN4, CNTN4-AS1 (V604G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146764	NM_175607.3(CNTN4):c.2716G>A (p.Gly906Arg)	CNTN4, CNTN4-AS1 (G577R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146761	NM_175607.3(CNTN4):c.2269G>A (p.Ala757Thr)	CNTN4, CNTN4-AS1 (A429T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3146760	NM_175607.3(CNTN4):c.2126G>A (p.Gly709Asp)	CNTN4, LOC126806588 (G709D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146759	NM_175607.3(CNTN4):c.2100A>T (p.Glu700Asp)	CNTN4, LOC126806588 (E700D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062748	GRCh37/hg19 3p26.3(chr3:2311251-2629638)x1	CNTN4	Copy number loss	not specified	GUncertain significance
Select item 3062728	GRCh37/hg19 3p26.2(chr3:2818201-3041367)x3	CNTN4	Copy number gain	not specified	GUncertain significance
Select item 3062718	GRCh37/hg19 3p26.3(chr3:2396801-2663640)x1	CNTN4	Copy number loss	not specified	GUncertain significance
Select item 3062687	GRCh37/hg19 3p26.3(chr3:2604833-2744663)x3	CNTN4	Copy number gain	not specified	GUncertain significance
Select item 3043952	NM_175607.3(CNTN4):c.2715C>T (p.Pro905=)	CNTN4, CNTN4-AS1	Single nucleotide variant (synonymous variant)	CNTN4-related disorder	GLikely benign
Select item 2688805	NM_175607.3(CNTN4):c.2698+1G>A	CNTN4, CNTN4-AS1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2685070	GRCh37/hg19 3p26.3-26.2(chr3:2705933-2878047)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 2685069	GRCh37/hg19 3p26.3(chr3:2493918-2745680)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 2685068	GRCh37/hg19 3p26.3-26.2(chr3:2282130-2823747)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 2685034	GRCh37/hg19 3p26.3(chr3:1467499-2540440)x4	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 2653443	NM_175607.3(CNTN4):c.2787T>C (p.Asn929=)	CNTN4, CNTN4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2632847	NM_175607.3(CNTN4):c.2525G>C (p.Arg842Thr)	CNTN4, CNTN4-AS1 (R513T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	CNTN4-related disorder	GUncertain significance
Select item 2600857	NM_175607.3(CNTN4):c.2893G>A (p.Asp965Asn)	CNTN4, CNTN4-AS1 (D965N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588195	NM_175607.3(CNTN4):c.2594C>T (p.Thr865Met)	CNTN4, CNTN4-AS1 (T536M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551641	NM_175607.3(CNTN4):c.2770G>A (p.Val924Met)	CNTN4, CNTN4-AS1 (V595M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529789	NM_175607.3(CNTN4):c.2326A>G (p.Lys776Glu)	CNTN4, CNTN4-AS1 (K448E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2510614	NM_175607.3(CNTN4):c.2128G>A (p.Gly710Arg)	CNTN4, LOC126806588 (G382R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2505083	GRCh37/hg19 3p26.3(chr3:2593544-2655924)x4	CNTN4	Copy number gain	not provided	Gnot provided
Select item 2485833	NM_175607.3(CNTN4):c.2819A>T (p.Tyr940Phe)	CNTN4, CNTN4-AS1 (Y612F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483981	NM_175607.3(CNTN4):c.2737T>G (p.Ser913Ala)	CNTN4, CNTN4-AS1 (S585A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474488	NM_175607.3(CNTN4):c.2538A>C (p.Lys846Asn)	CNTN4, CNTN4-AS1 (K517N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2396175	NM_175607.3(CNTN4):c.2479G>A (p.Glu827Lys)	CNTN4, CNTN4-AS1 (E498K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368244	NM_175607.3(CNTN4):c.2905A>G (p.Ile969Val)	CNTN4, CNTN4-AS1 (I969V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343692	NM_175607.3(CNTN4):c.2598C>G (p.Asn866Lys)	CNTN4, CNTN4-AS1 (N538K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297616	NM_175607.3(CNTN4):c.2726T>C (p.Ile909Thr)	CNTN4, CNTN4-AS1 (I580T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258686	NM_175607.3(CNTN4):c.2626G>A (p.Ala876Thr)	CNTN4, CNTN4-AS1 (A547T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209384	NM_175607.3(CNTN4):c.2948G>A (p.Ser983Asn)	CNTN4, CNTN4-AS1 (S655N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809285	GRCh37/hg19 3p26.3-26.2(chr3:2705933-2841901)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 1809026	GRCh37/hg19 3p26.3(chr3:2515737-2581603)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 1679721	NM_175607.3(CNTN4):c.-88-87028G>A	CNTN4	Single nucleotide variant (intron variant)	CNTN4-associated neurodevelopmental disorder	GUncertain significance
Select item 1526989	GRCh37/hg19 3p26.2(chr3:2961853-2973663)	CNTN4	Copy number loss	not specified	GUncertain significance
Select item 1526988	GRCh37/hg19 3p26.2(chr3:2940437-3034554)	CNTN4	Copy number loss	not specified	GUncertain significance
Select item 1526985	GRCh37/hg19 3p26.3(chr3:2499707-2679515)	CNTN4	Copy number loss	not specified	GUncertain significance
Select item 1526984	GRCh37/hg19 3p26.3(chr3:2325703-2384268)	CNTN4	Copy number loss	not specified	GUncertain significance
Select item 1526983	GRCh37/hg19 3p26.3-26.2(chr3:2309378-2818049)	CNTN4	Copy number gain	not specified	GUncertain significance
Select item 1526981	GRCh37/hg19 3p26.3(chr3:2212317-2705933)	CNTN4	Copy number gain	not specified	GUncertain significance
Select item 1526980	GRCh37/hg19 3p26.3-26.2(chr3:2206172-2821939)	CNTN4	Copy number loss	not specified	GUncertain significance
Select item 1526979	GRCh37/hg19 3p26.3(chr3:1750535-2301005)	CNTN4	Copy number gain	not specified	GUncertain significance
Select item 1526978	GRCh37/hg19 3p26.3-26.2(chr3:1448822-2918766)x3	CNTN4	Copy number gain	not specified	GUncertain significance
Select item 1341279	GRCh37/hg19 3p26.3(chr3:2347813-2401051)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 1341021	GRCh37/hg19 3p26.3(chr3:2540448-2637661)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 1340899	GRCh37/hg19 3p26.3-26.2(chr3:2212317-2821761)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 1340545	GRCh37/hg19 3p26.3(chr3:2077328-2515894)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 1340536	GRCh37/hg19 3p26.3(chr3:2600696-2744663)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 1340381	GRCh37/hg19 3p26.3(chr3:1479813-2285483)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 1340253	GRCh37/hg19 3p26.3(chr3:2235683-2376679)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 1340199	GRCh37/hg19 3p26.3(chr3:1508494-2708703)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 1340182	GRCh37/hg19 3p26.3(chr3:1949117-2427030)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 1340078	GRCh37/hg19 3p26.3(chr3:2217010-2475799)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 1340031	GRCh37/hg19 3p26.3(chr3:2109853-2401051)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 1290148	NM_175607.3(CNTN4):c.1663-212C>T	CNTN4, LOC132088954	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289118	NM_175607.3(CNTN4):c.1663-174G>A	CNTN4, LOC132088954	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288739	NM_175607.3(CNTN4):c.2398+70G>T	CNTN4, CNTN4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1288342	NM_175607.3(CNTN4):c.2164-205A>G	CNTN4, CNTN4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1288044	NM_175607.3(CNTN4):c.2268T>C (p.Asp756=)	CNTN4, CNTN4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1287127	NM_175607.3(CNTN4):c.2512-218A>T	CNTN4, CNTN4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286695	NM_175607.3(CNTN4):c.2193A>T (p.Arg731=)	CNTN4, CNTN4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1286508	NM_175607.3(CNTN4):c.*137G>C	CNTN4, CNTN4-AS1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1283767	NM_175607.3(CNTN4):c.1663-178C>T	CNTN4, LOC132088954	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283437	NM_175607.3(CNTN4):c.2511+165T>C	CNTN4, CNTN4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281257	NM_175607.3(CNTN4):c.2512-221T>G	CNTN4, CNTN4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279497	NM_175607.3(CNTN4):c.2093-90C>T	CNTN4, LOC126806588	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278521	NM_175607.3(CNTN4):c.2164-177C>T	CNTN4, CNTN4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1276669	NM_175607.3(CNTN4):c.2398+181G>A	CNTN4, CNTN4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275201	NM_175607.3(CNTN4):c.2093-165G>A	CNTN4, LOC126806588	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272534	NM_175607.3(CNTN4):c.2093-6G>C	CNTN4, LOC126806588	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265754	NM_175607.3(CNTN4):c.2812-50G>C	CNTN4, CNTN4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262848	NM_175607.3(CNTN4):c.2398+48T>A	CNTN4, CNTN4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1252819	NM_175607.3(CNTN4):c.2980+300dup	CNTN4, CNTN4-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1244560	NM_175607.3(CNTN4):c.2698+157C>T	CNTN4, CNTN4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242402	NM_175607.3(CNTN4):c.2512-8C>T	CNTN4, CNTN4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1230031	NM_175607.3(CNTN4):c.2093-108C>T	CNTN4, LOC126806588	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222103	NM_175607.3(CNTN4):c.2511+173C>T	CNTN4, CNTN4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221661	NM_175607.3(CNTN4):c.2398+4T>C	CNTN4, CNTN4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1182930	NM_175607.3(CNTN4):c.2812-87G>A	CNTN4, CNTN4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179663	NM_175607.3(CNTN4):c.1663-158A>G	CNTN4, LOC132088954	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177914	NM_175607.3(CNTN4):c.2511+41A>G	CNTN4, CNTN4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1023974	NM_175607.3(CNTN4):c.2295G>C (p.Glu765Asp)	CNTN4, CNTN4-AS1 (E436D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 979438	GRCh37/hg19 3p26.3-26.2(chr3:2371830-2918744)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 979437	GRCh37/hg19 3p26.3-26.2(chr3:2212317-2878047)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 979436	GRCh37/hg19 3p26.3(chr3:1967627-2770509)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 979431	GRCh37/hg19 3p26.3(chr3:2034354-2573779)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 979429	GRCh37/hg19 3p26.3(chr3:1564082-2199002)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 979427	GRCh37/hg19 3p26.3(chr3:2347812-2401051)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 979425	GRCh37/hg19 3p26.3(chr3:1975943-2426277)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 979422	GRCh37/hg19 3p26.3(chr3:2593153-2637571)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 929400	GRCh37/hg19 3p26.3(chr3:1772716-2368791)x1	CNTN4	Copy number loss	See cases	GUncertain significance
Select item 929308	GRCh37/hg19 3p26.3-26.2(chr3:2152370-2806287)x1	CNTN4	Copy number loss	See cases	GLikely benign
Select item 816601	GRCh37/hg19 3p26.3(chr3:1827966-2770509)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 816600	GRCh37/hg19 3p26.3(chr3:1775844-2278069)x3	CNTN4	Copy number gain	not provided	GUncertain significance
Select item 814415	GRCh37/hg19 3p26.2(chr3:2878327-2940382)x1	CNTN4	Copy number loss	not provided	GUncertain significance
Select item 814414	GRCh37/hg19 3p26.2(chr3:2801518-2872587)x1	CNTN4	Copy number loss	not provided	GUncertain significance

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