ClinVar 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 3268295	NM_175607.3(CNTN4):c.403C>T (p.Arg135Cys)	CNTN4 (R135C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268294	NM_175607.3(CNTN4):c.1864G>A (p.Asp622Asn)	CNTN4 (D622N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268293	NM_175607.3(CNTN4):c.1279A>G (p.Ile427Val)	CNTN4 (I99V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268292	NM_175607.3(CNTN4):c.506G>A (p.Arg169His)	CNTN4 (R169H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268290	NM_175607.3(CNTN4):c.284C>T (p.Ala95Val)	CNTN4 (A95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268289	NM_175607.3(CNTN4):c.1414G>A (p.Ala472Thr)	CNTN4 (A144T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3146775	NM_175607.3(CNTN4):c.954G>T (p.Trp318Cys)	CNTN4 (W318C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146774	NM_175607.3(CNTN4):c.84T>A (p.Phe28Leu)	CNTN4 (F28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146773	NM_175607.3(CNTN4):c.796C>T (p.Pro266Ser)	CNTN4 (P266S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146772	NM_175607.3(CNTN4):c.508C>T (p.Arg170Cys)	CNTN4 (R170C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146771	NM_175607.3(CNTN4):c.407G>A (p.Arg136Gln)	CNTN4 (R136Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3146770	NM_175607.3(CNTN4):c.366C>G (p.Asp122Glu)	CNTN4 (D122E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3146769	NM_175607.3(CNTN4):c.350A>G (p.Gln117Arg)	CNTN4 (Q117R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146768	NM_175607.3(CNTN4):c.305C>T (p.Ala102Val)	CNTN4 (A102V)	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 3146763	NM_175607.3(CNTN4):c.256A>T (p.Ile86Phe)	CNTN4 (I86F)	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 3146758	NM_175607.3(CNTN4):c.1904G>A (p.Arg635Lys)	CNTN4 (R635K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146757	NM_175607.3(CNTN4):c.1856C>T (p.Pro619Leu)	CNTN4 (P619L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146755	NM_175607.3(CNTN4):c.1633G>A (p.Asp545Asn)	CNTN4 (D217N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146754	NM_175607.3(CNTN4):c.1364C>T (p.Thr455Ile)	CNTN4 (T455I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146753	NM_175607.3(CNTN4):c.1267G>T (p.Gly423Cys)	CNTN4 (G423C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146752	NM_175607.3(CNTN4):c.1188C>G (p.Asn396Lys)	CNTN4 (N396K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146751	NM_175607.3(CNTN4):c.115T>G (p.Leu39Val)	CNTN4 (L39V)	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 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062696	GRCh37/hg19 3p26.3(chr3:698396-2191987)x3	CNTN4, CNTN6	Copy number gain	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 3062684	GRCh37/hg19 3p26.3-26.2(chr3:1921405-3582840)x3	CNTN4, CRBN +2 more	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 3039797	NM_175607.3(CNTN4):c.795G>A (p.Lys265=)	CNTN4	Single nucleotide variant (synonymous variant)	CNTN4-related disorder	GLikely benign
Select item 3033763	NM_175607.3(CNTN4):c.33A>G (p.Gln11=)	CNTN4	Single nucleotide variant (synonymous variant)	CNTN4-related disorder	GLikely benign
Select item 3025046	NM_175607.3(CNTN4):c.577A>G (p.Thr193Ala)	CNTN4 (T193A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024626	GRCh37/hg19 3p26.3-26.2(chr3:299538-2928908)x4	CHL1, CNTN4 +1 more	Copy number gain	not provided	GUncertain significance
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 2685901	GRCh37/hg19 3p26.3-26.2(chr3:2325704-3741221)x3	CNTN4, CRBN +2 more	Copy number gain	not provided	GUncertain significance
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
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 2685019	GRCh37/hg19 3p26.3-26.1(chr3:61892-6743581)x1	ARL8B, BHLHE40 +12 more	Copy number loss	not provided	GUncertain significance
Select item 2671618	Single allele	ARL8B, ARPC4 +36 more	Deletion	not provided	GPathogenic
Select item 2671609	Single allele	ARL8B, BHLHE40 +13 more	Deletion	not provided	GPathogenic
Select item 2664610	NM_175607.3(CNTN4):c.1250C>A (p.Thr417Asn)	CNTN4 (T417N +1 more)	Single nucleotide variant (missense variant)	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 2629866	NM_175607.3(CNTN4):c.1877C>T (p.Pro626Leu)	CNTN4 (P297L +2 more)	Single nucleotide variant (missense variant)	CNTN4-related disorder	GUncertain significance
Select item 2628671	NM_175607.3(CNTN4):c.1427C>T (p.Thr476Ile)	CNTN4 (T148I +1 more)	Single nucleotide variant (missense variant)	CNTN4-related disorder	GUncertain significance
Select item 2621263	NM_175607.3(CNTN4):c.1397A>G (p.Asn466Ser)	CNTN4 (N138S +1 more)	Single nucleotide variant (missense variant)	not specified	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 2598516	NM_175607.3(CNTN4):c.1835C>G (p.Thr612Ser)	CNTN4 (T284S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593195	NM_175607.3(CNTN4):c.526A>G (p.Thr176Ala)	CNTN4 (T176A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2551829	NM_175607.3(CNTN4):c.718G>A (p.Gly240Arg)	CNTN4 (G240R)	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 2549696	NM_175607.3(CNTN4):c.979G>T (p.Val327Leu)	CNTN4 (V327L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538728	NM_175607.3(CNTN4):c.638T>A (p.Ile213Lys)	CNTN4 (I213K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538301	NM_175607.3(CNTN4):c.998T>C (p.Val333Ala)	CNTN4 (V333A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536137	NM_175607.3(CNTN4):c.479A>G (p.Asn160Ser)	CNTN4 (N160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530164	NM_175607.3(CNTN4):c.1532T>C (p.Val511Ala)	CNTN4 (V183A +1 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 2523771	NM_175607.3(CNTN4):c.997G>T (p.Val333Phe)	CNTN4 (V333F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522289	NM_175607.3(CNTN4):c.1466C>G (p.Thr489Ser)	CNTN4 (T489S +1 more)	Single nucleotide variant (missense variant)	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 2507517	NM_175607.3(CNTN4):c.172C>A (p.Pro58Thr)	CNTN4 (P58T)	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 2494015	NM_175607.3(CNTN4):c.799A>G (p.Ile267Val)	CNTN4 (I267V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2478771	NM_175607.3(CNTN4):c.511T>G (p.Phe171Val)	CNTN4 (F171V)	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 2462826	NM_175607.3(CNTN4):c.175C>A (p.His59Asn)	CNTN4 (H59N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462109	NM_175607.3(CNTN4):c.1805C>A (p.Ala602Asp)	CNTN4 (A602D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461767	NM_175607.3(CNTN4):c.2045T>C (p.Ile682Thr)	CNTN4 (I353T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411007	NM_175607.3(CNTN4):c.1565C>T (p.Thr522Met)	CNTN4 (T522M +1 more)	Single nucleotide variant (missense variant)	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 2370364	NM_175607.3(CNTN4):c.2018G>A (p.Arg673His)	CNTN4 (R345H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369005	NM_175607.3(CNTN4):c.1399G>A (p.Val467Ile)	CNTN4 (V139I +1 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 2353903	NM_175607.3(CNTN4):c.227G>A (p.Arg76His)	CNTN4 (R76H)	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 2341849	NM_175607.3(CNTN4):c.1976C>T (p.Ala659Val)	CNTN4 (A330V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324370	NM_175607.3(CNTN4):c.1553C>T (p.Pro518Leu)	CNTN4 (P190L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298330	NM_175607.3(CNTN4):c.215G>C (p.Gly72Ala)	CNTN4 (G72A)	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 2289048	NM_175607.3(CNTN4):c.1378G>A (p.Gly460Arg)	CNTN4 (G460R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288625	NM_175607.3(CNTN4):c.1298C>T (p.Ala433Val)	CNTN4 (A105V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285698	NM_175607.3(CNTN4):c.49C>G (p.Leu17Val)	CNTN4 (L17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283745	NM_175607.3(CNTN4):c.787G>A (p.Asp263Asn)	CNTN4 (D263N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266175	NM_175607.3(CNTN4):c.1492A>C (p.Thr498Pro)	CNTN4 (T170P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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