ClinVar for Gene (Select 53942) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3345481	NM_014361.4(CNTN5):c.2731-4A>G	CNTN5	Single nucleotide variant (intron variant)	CNTN5-related disorder	GUncertain significance
Select item 3345002	NM_014361.4(CNTN5):c.310G>A (p.Glu104Lys)	CNTN5 (E104K +1 more)	Single nucleotide variant (missense variant)	CNTN5-related disorder	GUncertain significance
Select item 3344043	NM_014361.4(CNTN5):c.2534C>T (p.Thr845Ile)	CNTN5 (T771I +1 more)	Single nucleotide variant (missense variant)	CNTN5-related disorder	GUncertain significance
Select item 3268305	NM_014361.4(CNTN5):c.1305G>T (p.Arg435Ser)	CNTN5 (R435S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268304	NM_014361.4(CNTN5):c.1109G>C (p.Arg370Thr)	CNTN5 (R296T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268303	NM_014361.4(CNTN5):c.1337A>C (p.His446Pro)	CNTN5 (H372P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268302	NM_014361.4(CNTN5):c.487A>G (p.Ser163Gly)	CNTN5 (S163G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268301	NM_014361.4(CNTN5):c.862A>C (p.Thr288Pro)	CNTN5 (T288P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268299	NM_014361.4(CNTN5):c.574G>A (p.Ala192Thr)	CNTN5 (A118T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268298	NM_014361.4(CNTN5):c.1902T>G (p.Asp634Glu)	CNTN5 (D560E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268297	NM_014361.4(CNTN5):c.2738A>G (p.Tyr913Cys)	CNTN5 (Y913C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146793	NM_014361.4(CNTN5):c.659C>A (p.Pro220Gln)	CNTN5 (P146Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146792	NM_014361.4(CNTN5):c.551G>A (p.Ser184Asn)	CNTN5 (S110N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146791	NM_014361.4(CNTN5):c.475A>G (p.Ile159Val)	CNTN5 (I85V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146790	NM_014361.4(CNTN5):c.3200G>A (p.Gly1067Asp)	CNTN5 (G1067D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146788	NM_014361.4(CNTN5):c.3002C>G (p.Ala1001Gly)	CNTN5 (A1001G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146787	NM_014361.4(CNTN5):c.2917C>T (p.Pro973Ser)	CNTN5 (P899S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146786	NM_014361.4(CNTN5):c.2537C>T (p.Pro846Leu)	CNTN5 (P846L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146785	NM_014361.4(CNTN5):c.2537C>G (p.Pro846Arg)	CNTN5 (P772R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146784	NM_014361.4(CNTN5):c.2399A>G (p.Glu800Gly)	CNTN5 (E726G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146782	NM_014361.4(CNTN5):c.2299C>T (p.Arg767Cys)	CNTN5 (R767C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146780	NM_014361.4(CNTN5):c.1849G>A (p.Glu617Lys)	CNTN5 (E543K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146779	NM_014361.4(CNTN5):c.1687A>T (p.Ile563Leu)	CNTN5 (I489L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146778	NM_014361.4(CNTN5):c.1610G>A (p.Arg537Gln)	CNTN5 (R537Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146777	NM_014361.4(CNTN5):c.1332G>C (p.Met444Ile)	CNTN5 (M370I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146776	NM_014361.4(CNTN5):c.1037G>A (p.Arg346His)	CNTN5 (R272H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058701	NM_014361.4(CNTN5):c.2730+16T>C	CNTN5	Single nucleotide variant (3 prime UTR variant +1 more)	CNTN5-related disorder	GLikely benign
Select item 3058246	NM_014361.4(CNTN5):c.1658G>T (p.Gly553Val)	CNTN5 (G479V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058029	NM_014361.4(CNTN5):c.3122A>G (p.Tyr1041Cys)	CNTN5 (Y1041C +1 more)	Single nucleotide variant (missense variant)	CNTN5-related disorder	GLikely benign
Select item 3057397	NM_014361.4(CNTN5):c.2556C>T (p.Gly852=)	CNTN5	Single nucleotide variant (synonymous variant)	CNTN5-related disorder	GLikely benign
Select item 3056204	NM_014361.4(CNTN5):c.2291G>A (p.Arg764Gln)	CNTN5 (R690Q +1 more)	Single nucleotide variant (missense variant)	CNTN5-related disorder	GLikely benign
Select item 3054065	NM_014361.4(CNTN5):c.277+10A>G	CNTN5	Single nucleotide variant (intron variant)	CNTN5-related disorder	GBenign
Select item 3047088	NM_014361.4(CNTN5):c.1848C>T (p.Phe616=)	CNTN5	Single nucleotide variant (synonymous variant)	CNTN5-related disorder	GLikely benign
Select item 3045090	NM_014361.4(CNTN5):c.2205T>A (p.Ala735=)	CNTN5	Single nucleotide variant (synonymous variant)	CNTN5-related disorder	GLikely benign
Select item 3044707	NM_014361.4(CNTN5):c.480C>T (p.Ser160=)	CNTN5	Single nucleotide variant (synonymous variant)	CNTN5-related disorder	GLikely benign
Select item 3044243	NM_014361.4(CNTN5):c.329T>C (p.Phe110Ser)	CNTN5 (F110S +1 more)	Single nucleotide variant (missense variant)	CNTN5-related disorder	GLikely benign
Select item 3039934	NM_014361.4(CNTN5):c.982C>G (p.Pro328Ala)	CNTN5 (P254A +1 more)	Single nucleotide variant (missense variant)	CNTN5-related disorder	GLikely benign
Select item 3039543	NM_014361.4(CNTN5):c.1731T>G (p.Thr577=)	CNTN5	Single nucleotide variant (synonymous variant)	CNTN5-related disorder	GLikely benign
Select item 3038642	NM_014361.4(CNTN5):c.2368T>A (p.Leu790Ile)	CNTN5 (L716I +1 more)	Single nucleotide variant (missense variant)	CNTN5-related disorder	GBenign
Select item 3038423	NM_014361.4(CNTN5):c.1290C>T (p.Leu430=)	CNTN5	Single nucleotide variant (synonymous variant)	CNTN5-related disorder	GBenign
Select item 3038032	NM_014361.4(CNTN5):c.3080A>C (p.Gln1027Pro)	CNTN5 (Q1027P +1 more)	Single nucleotide variant (missense variant)	CNTN5-related disorder	GBenign
Select item 2713184	NM_014361.4(CNTN5):c.3091G>A (p.Ala1031Thr)	CNTN5 (A957T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685422	GRCh37/hg19 11q22.1(chr11:99654764-99784227)x1	CNTN5	Copy number loss	not provided	GUncertain significance
Select item 2685420	GRCh37/hg19 11q22.1(chr11:99592795-99755646)x1	CNTN5	Copy number loss	not provided	GUncertain significance
Select item 2684654	GRCh37/hg19 11q21-22.3(chr11:97147292-102979905)x3	ANGPTL5, ARHGAP42 +20 more	Copy number gain	not provided	GUncertain significance
Select item 2681203	NM_014361.4(CNTN5):c.2803G>A (p.Val935Ile)	CNTN5 (V861I +1 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2642311	NM_014361.4(CNTN5):c.1794T>C (p.Asp598=)	CNTN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642310	NM_014361.4(CNTN5):c.981-5C>T	CNTN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2642309	NM_014361.4(CNTN5):c.801T>C (p.Tyr267=)	CNTN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637206	NM_014361.4(CNTN5):c.1664del (p.Asn555fs)	CNTN5 (N481fs +1 more)	Deletion (frameshift variant)	CNTN5-related disorder	GUncertain significance
Select item 2633523	NM_014361.4(CNTN5):c.1586C>T (p.Ala529Val)	CNTN5 (A455V +1 more)	Single nucleotide variant (missense variant)	CNTN5-related disorder	GUncertain significance
Select item 2628553	NM_014361.4(CNTN5):c.2210A>T (p.Asp737Val)	CNTN5 (D663V +1 more)	Single nucleotide variant (missense variant)	CNTN5-related disorder	GUncertain significance
Select item 2611817	NM_014361.4(CNTN5):c.2949G>T (p.Trp983Cys)	CNTN5 (W909C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609148	NM_014361.4(CNTN5):c.1177G>C (p.Val393Leu)	CNTN5 (V319L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602729	NM_014361.4(CNTN5):c.1537A>G (p.Ile513Val)	CNTN5 (I439V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601131	NM_014361.4(CNTN5):c.3251C>T (p.Ser1084Leu)	CNTN5 (S1010L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600825	NM_014361.4(CNTN5):c.2798C>A (p.Ser933Tyr)	CNTN5 (S859Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596667	NM_014361.4(CNTN5):c.1840A>G (p.Ile614Val)	CNTN5 (I540V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594944	NM_014361.4(CNTN5):c.2456G>A (p.Arg819His)	CNTN5 (R819H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570280	NM_014361.4(CNTN5):c.1891T>G (p.Ser631Ala)	CNTN5 (S631A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564802	NM_014361.4(CNTN5):c.2302A>G (p.Thr768Ala)	CNTN5 (T768A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542234	NM_014361.4(CNTN5):c.3116G>A (p.Gly1039Glu)	CNTN5 (G965E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542058	NM_014361.4(CNTN5):c.3050G>T (p.Gly1017Val)	CNTN5 (G943V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534968	NM_014361.4(CNTN5):c.1253G>T (p.Arg418Ile)	CNTN5 (R344I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522462	NM_014361.4(CNTN5):c.377G>A (p.Arg126His)	CNTN5 (R126H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516510	NM_014361.4(CNTN5):c.2125C>T (p.Arg709Cys)	CNTN5 (R635C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514694	NM_014361.4(CNTN5):c.194C>A (p.Ser65Tyr)	CNTN5 (S65Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507738	NM_014361.4(CNTN5):c.1261T>C (p.Tyr421His)	CNTN5 (Y347H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481172	NM_014361.4(CNTN5):c.1636G>C (p.Glu546Gln)	CNTN5 (E546Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479240	NM_014361.4(CNTN5):c.829A>G (p.Asn277Asp)	CNTN5 (N203D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472908	NM_014361.4(CNTN5):c.915T>G (p.His305Gln)	CNTN5 (H231Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472210	NM_014361.4(CNTN5):c.464G>A (p.Gly155Asp)	CNTN5 (G81D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470198	NM_014361.4(CNTN5):c.2015G>A (p.Gly672Asp)	CNTN5 (G672D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470124	NM_014361.4(CNTN5):c.2651C>T (p.Ala884Val)	CNTN5 (A810V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398379	NM_014361.4(CNTN5):c.2611G>C (p.Ala871Pro)	CNTN5 (A797P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390135	NM_014361.4(CNTN5):c.2170G>A (p.Glu724Lys)	CNTN5 (E650K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388535	NM_014361.4(CNTN5):c.2510G>A (p.Arg837Gln)	CNTN5 (R763Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386321	NM_014361.4(CNTN5):c.2935A>G (p.Ser979Gly)	CNTN5 (S905G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339872	NM_014361.4(CNTN5):c.1314G>A (p.Met438Ile)	CNTN5 (M364I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337061	NM_014361.4(CNTN5):c.1861G>A (p.Gly621Arg)	CNTN5 (G547R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331208	NM_014361.4(CNTN5):c.1043G>A (p.Arg348Gln)	CNTN5 (R274Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319812	NM_014361.4(CNTN5):c.385C>T (p.Pro129Ser)	CNTN5 (P129S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311892	NM_014361.4(CNTN5):c.1562C>A (p.Ala521Glu)	CNTN5 (A521E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306552	NM_014361.4(CNTN5):c.2887A>G (p.Ser963Gly)	CNTN5 (S889G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301018	NM_014361.4(CNTN5):c.359C>A (p.Ala120Glu)	CNTN5 (A46E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295105	NM_014361.4(CNTN5):c.3100C>T (p.Pro1034Ser)	CNTN5 (P1034S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289834	NM_014361.4(CNTN5):c.1513C>T (p.Pro505Ser)	CNTN5 (P431S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280663	NM_014361.4(CNTN5):c.1196C>T (p.Thr399Ile)	CNTN5 (T399I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279246	NM_014361.4(CNTN5):c.2839C>G (p.His947Asp)	CNTN5 (H947D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273280	NM_014361.4(CNTN5):c.2194T>C (p.Ser732Pro)	CNTN5 (S658P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269000	NM_014361.4(CNTN5):c.23T>A (p.Met8Lys)	CNTN5 (M8K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265781	NM_014361.4(CNTN5):c.1074T>G (p.Asn358Lys)	CNTN5 (N358K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262020	NM_014361.4(CNTN5):c.207G>T (p.Trp69Cys)	CNTN5 (W69C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260984	NM_014361.4(CNTN5):c.2376T>G (p.Ile792Met)	CNTN5 (I792M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255692	NM_014361.4(CNTN5):c.982C>T (p.Pro328Ser)	CNTN5 (P254S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247438	NM_014361.4(CNTN5):c.3008A>T (p.Glu1003Val)	CNTN5 (E929V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243009	NM_014361.4(CNTN5):c.2915C>A (p.Ser972Tyr)	CNTN5 (S898Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236951	NM_014361.4(CNTN5):c.1060C>A (p.Leu354Met)	CNTN5 (L280M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225183	NM_014361.4(CNTN5):c.2050G>A (p.Glu684Lys)	CNTN5 (E684K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222299	NM_014361.4(CNTN5):c.883A>T (p.Met295Leu)	CNTN5 (M295L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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