2175[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 545153	NC_000011.10:g.(?_96535656)_(99184810_?)del	CNTN5, LINC02553 +19 more	Deletion	Autism	GLikely pathogenic
Select item 147379	GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1	LOC132089949, LOC132089950 +149 more	Copy number loss	See cases	GPathogenic
Select item 153210	GRCh38/hg38 11q22.1(chr11:98761073-99150243)x1	CNTN5, LOC129390345 +2 more	Copy number loss	See cases	GLikely benign
Select item 149099	GRCh38/hg38 11q22.1(chr11:98806292-99946244)x1	CNTN5, LOC126861310 +10 more	Copy number loss	See cases	GUncertain significance
Select item 157221	NC_000011.10:g.99506676_99703958dup	CNTN5	Duplication	Small for gestational age	Gnot provided
Select item 151073	GRCh38/hg38 11q22.1(chr11:99543142-99600896)x1	CNTN5	Copy number loss	See cases	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 157222	NM_175566.2(CNTN5):c.55+98126_55+139782del	CNTN5	Deletion	Gestational diabetes mellitus uncontrolled	Gnot provided
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 2204748	NM_014361.4(CNTN5):c.205T>G (p.Trp69Gly)	CNTN5 (W69G)	Single nucleotide variant (missense variant +1 more)	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 768471	NM_014361.4(CNTN5):c.209T>G (p.Leu70Arg)	CNTN5 (L70R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2206394	NM_014361.4(CNTN5):c.215C>A (p.Ala72Glu)	CNTN5 (A72E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3054065	NM_014361.4(CNTN5):c.277+10A>G	CNTN5	Single nucleotide variant (intron variant)	CNTN5-related disorder	GBenign
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 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 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 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 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 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 720168	NM_014361.4(CNTN5):c.474T>G (p.Ile158Met)	CNTN5 (I158M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3044707	NM_014361.4(CNTN5):c.480C>T (p.Ser160=)	CNTN5	Single nucleotide variant (synonymous variant)	CNTN5-related disorder	GLikely benign
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 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 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 739238	NM_014361.4(CNTN5):c.630C>T (p.Gly210=)	CNTN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1342622	NM_014361.4(CNTN5):c.714T>G (p.Phe238Leu)	CNTN5 (F164L +1 more)	Single nucleotide variant (missense variant)	CNTN5-related Neurodevelopmental disorder	GUncertain significance
Select item 2642309	NM_014361.4(CNTN5):c.801T>C (p.Tyr267=)	CNTN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2222299	NM_014361.4(CNTN5):c.883A>T (p.Met295Leu)	CNTN5 (M295L +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 153913	GRCh38/hg38 11q22.1(chr11:100019656-100758582)x3	ARHGAP42, ARHGAP42-AS1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 57211	GRCh38/hg38 11q22.1(chr11:100042662-100756524)x3	ARHGAP42, ARHGAP42-AS1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 2642310	NM_014361.4(CNTN5):c.981-5C>T	CNTN5	Single nucleotide variant (intron variant)	not provided	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 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 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 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 446039	NM_014361.4(CNTN5):c.1047A>T (p.Lys349Asn)	CNTN5 (K349N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
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 1111506	NM_014361.4(CNTN5):c.1070C>T (p.Pro357Leu)	CNTN5 (P283L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 779943	NM_014361.4(CNTN5):c.1125T>A (p.Arg375=)	CNTN5	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 786209	NM_014361.4(CNTN5):c.1281A>G (p.Gly427=)	CNTN5	Single nucleotide variant (synonymous variant)	not provided	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 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 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 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 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 2071470	NM_014361.4(CNTN5):c.1502T>C (p.Ile501Thr)	CNTN5 (I427T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 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 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 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 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 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 2637206	NM_014361.4(CNTN5):c.1664del (p.Asn555fs)	CNTN5 (N481fs +1 more)	Deletion (frameshift variant)	CNTN5-related disorder	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 3039543	NM_014361.4(CNTN5):c.1731T>G (p.Thr577=)	CNTN5	Single nucleotide variant (synonymous variant)	CNTN5-related disorder	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 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 3047088	NM_014361.4(CNTN5):c.1848C>T (p.Phe616=)	CNTN5	Single nucleotide variant (synonymous variant)	CNTN5-related disorder	GLikely benign
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 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 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 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 721544	NM_014361.4(CNTN5):c.2006-7C>T	CNTN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 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 3045090	NM_014361.4(CNTN5):c.2205T>A (p.Ala735=)	CNTN5	Single nucleotide variant (synonymous variant)	CNTN5-related disorder	GLikely benign
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 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 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 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 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 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 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 769805	NM_014361.4(CNTN5):c.2415A>C (p.Glu805Asp)	CNTN5 (E805D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 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 3057397	NM_014361.4(CNTN5):c.2556C>T (p.Gly852=)	CNTN5	Single nucleotide variant (synonymous variant)	CNTN5-related disorder	GLikely benign
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

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