ClinVar for Gene (Select 57555) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 148

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3200426	NM_020795.4(NLGN2):c.245G>A (p.Arg82His)	NLGN2 (R82H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200425	NM_020795.4(NLGN2):c.1828A>G (p.Asn610Asp)	NLGN2 (N610D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200423	NM_020795.4(NLGN2):c.1236C>G (p.Asn412Lys)	NLGN2 (N412K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063511	GRCh37/hg19 17p13.1(chr17:7002380-7469251)x1	PHF23, PLSCR3 +32 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3043717	NM_020795.4(NLGN2):c.2193C>T (p.Ala731=)	NLGN2	Single nucleotide variant (synonymous variant)	NLGN2-related disorder	GLikely benign
Select item 3042506	NM_020795.4(NLGN2):c.457+10C>T	NLGN2	Single nucleotide variant (intron variant)	NLGN2-related disorder	GLikely benign
Select item 3035647	NM_020795.4(NLGN2):c.1965C>G (p.Pro655=)	NLGN2	Single nucleotide variant (synonymous variant)	NLGN2-related disorder	GLikely benign
Select item 3030315	NM_020795.4(NLGN2):c.2495C>T (p.Thr832Ile)	NLGN2 (T832I)	Single nucleotide variant (missense variant)	NLGN2-related disorder	GUncertain significance
Select item 3029306	NM_020795.4(NLGN2):c.2455G>T (p.Ala819Ser)	NLGN2 (A819S)	Single nucleotide variant (missense variant)	NLGN2-related disorder	GLikely benign
Select item 3026518	NM_020795.4(NLGN2):c.1343G>A (p.Arg448His)	NLGN2 (R448H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022222	NM_020795.4(NLGN2):c.1634+13GGGGCTGGGC[3]	NLGN2	Microsatellite (intron variant)	not provided	GBenign
Select item 2980818	NM_020795.4(NLGN2):c.1429C>T (p.Pro477Ser)	NLGN2 (P477S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980167	NM_020795.4(NLGN2):c.1129G>A (p.Asp377Asn)	NLGN2 (D377N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975953	NM_020795.4(NLGN2):c.2274C>G (p.Ala758=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972870	NM_020795.4(NLGN2):c.78G>A (p.Pro26=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972451	NM_020795.4(NLGN2):c.1656G>A (p.Pro552=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961100	NM_020795.4(NLGN2):c.2487C>G (p.Pro829=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958745	NM_020795.4(NLGN2):c.1650G>A (p.Pro550=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918504	NM_020795.4(NLGN2):c.1023C>T (p.Asp341=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911953	NM_020795.4(NLGN2):c.294C>T (p.Asn98=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904026	NM_020795.4(NLGN2):c.792C>T (p.Ser264=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903829	NM_020795.4(NLGN2):c.1875C>T (p.Tyr625=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899640	NM_020795.4(NLGN2):c.1467G>A (p.Ala489=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898350	NM_020795.4(NLGN2):c.879C>T (p.Thr293=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886481	NM_020795.4(NLGN2):c.965_966delinsAT (p.Ser322Asn)	NLGN2 (S322N)	Indel (missense variant)	not provided	GUncertain significance
Select item 2885024	NM_020795.4(NLGN2):c.485C>T (p.Ala162Val)	NLGN2 (A162V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867407	NM_020795.4(NLGN2):c.1922G>C (p.Arg641Pro)	NLGN2 (R641P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831675	NM_020795.4(NLGN2):c.844+20C>G	NLGN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818065	NM_020795.4(NLGN2):c.509-12_509-11insCTCCCCACCCCC	NLGN2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2784879	NM_020795.4(NLGN2):c.2269C>T (p.Pro757Ser)	NLGN2 (P757S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783809	NM_020795.4(NLGN2):c.2197G>A (p.Gly733Ser)	NLGN2 (G733S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778657	NM_020795.4(NLGN2):c.461C>T (p.Pro154Leu)	NLGN2 (P154L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2723018	NM_020795.4(NLGN2):c.1413C>T (p.His471=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717800	NM_020795.4(NLGN2):c.924G>A (p.Thr308=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711881	NM_020795.4(NLGN2):c.1934C>T (p.Pro645Leu)	NLGN2 (P645L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699750	NM_020795.4(NLGN2):c.2025G>A (p.Glu675=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647335	NM_020795.4(NLGN2):c.2406G>A (p.Pro802=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623797	NM_020795.4(NLGN2):c.1835A>G (p.His612Arg)	NLGN2 (H612R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621304	NM_020795.4(NLGN2):c.1153G>A (p.Gly385Arg)	NLGN2 (G385R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582198	NM_020795.4(NLGN2):c.1084G>T (p.Asp362Tyr)	NLGN2 (D362Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581792	NM_020795.4(NLGN2):c.778A>G (p.Thr260Ala)	NLGN2 (T260A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579550	NM_020795.4(NLGN2):c.284G>A (p.Gly95Asp)	NLGN2 (G95D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2577631	NM_020795.4(NLGN2):c.2273C>A (p.Ala758Asp)	NLGN2 (A758D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2536073	NM_020795.4(NLGN2):c.2123G>A (p.Arg708Gln)	NLGN2 (R708Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2519679	NM_020795.4(NLGN2):c.2405C>T (p.Pro802Leu)	NLGN2 (P802L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519576	NM_020795.4(NLGN2):c.241G>A (p.Ala81Thr)	NLGN2 (A81T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2504345	NM_020795.4(NLGN2):c.1178A>G (p.Asp393Gly)	NLGN2 (D393G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498727	GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1	ACADVL, ACAP1 +48 more	Copy number loss	not provided	GPathogenic
Select item 2464673	NM_020795.4(NLGN2):c.2423C>A (p.Pro808His)	NLGN2 (P808H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459695	NM_020795.4(NLGN2):c.1991G>A (p.Arg664His)	NLGN2 (R664H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459568	NM_020795.4(NLGN2):c.1432G>A (p.Val478Ile)	NLGN2 (V478I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446339	NM_020795.4(NLGN2):c.137C>T (p.Thr46Met)	NLGN2 (T46M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429622	NM_020795.4(NLGN2):c.2326del (p.Ala776fs)	NLGN2 (A776fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2424768	NC_000017.10:g.(?_7123304)_(7606804_?)del	ACADVL, ACAP1 +40 more	Deletion	Common variable immunodeficiency	GUncertain significance
Select item 2423278	NC_000017.10:g.(?_7120455)_(8151423_?)del	ALOX15B, ACADVL +66 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2422139	NC_000017.10:g.(?_7123304)_(8193254_?)del	NEURL4, NLGN2 +69 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2422136	NC_000017.10:g.(?_6328780)_(7606804_?)dup	POLR2A, RNASEK +62 more	Duplication	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 2413050	NM_020795.4(NLGN2):c.408C>G (p.Asn136Lys)	NLGN2 (N136K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2400881	NM_020795.4(NLGN2):c.1466C>T (p.Ala489Val)	NLGN2 (A489V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391172	NM_020795.4(NLGN2):c.2405C>G (p.Pro802Arg)	NLGN2 (P802R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377521	NM_020795.4(NLGN2):c.2201G>A (p.Arg734His)	NLGN2 (R734H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2373433	NM_020795.4(NLGN2):c.1883G>A (p.Arg628His)	NLGN2 (R628H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356540	NM_020795.4(NLGN2):c.1765G>A (p.Val589Met)	NLGN2 (V589M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337511	NM_020795.4(NLGN2):c.967G>A (p.Ala323Thr)	NLGN2 (A323T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329335	NM_020795.4(NLGN2):c.1625C>T (p.Ala542Val)	NLGN2 (A542V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265551	NM_020795.4(NLGN2):c.1267G>C (p.Gly423Arg)	NLGN2 (G423R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250050	NM_020795.4(NLGN2):c.2257G>T (p.Val753Phe)	NLGN2 (V753F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2192972	NM_020795.4(NLGN2):c.84C>T (p.Gly28=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174636	NM_020795.4(NLGN2):c.1924C>T (p.Arg642Trp)	NLGN2 (R642W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2146897	NM_020795.4(NLGN2):c.1960G>A (p.Glu654Lys)	NLGN2 (E654K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084708	NM_020795.4(NLGN2):c.1965C>T (p.Pro655=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2054406	NM_020795.4(NLGN2):c.1914G>A (p.Pro638=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2041516	NM_020795.4(NLGN2):c.573G>A (p.Gly191=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2001022	NM_020795.4(NLGN2):c.672C>G (p.Thr224=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1991171	NM_020795.4(NLGN2):c.2441C>T (p.Pro814Leu)	NLGN2 (P814L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984769	NM_020795.4(NLGN2):c.1543G>A (p.Ala515Thr)	NLGN2 (A515T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980783	NM_020795.4(NLGN2):c.2297C>T (p.Pro766Leu)	NLGN2 (P766L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1953776	NM_020795.4(NLGN2):c.844+10G>A	NLGN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1906747	NM_020795.4(NLGN2):c.2135T>C (p.Leu712Pro)	NLGN2 (L712P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712832	NM_020795.4(NLGN2):c.865G>A (p.Ala289Thr)	NLGN2 (A289T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706691	NM_020795.4(NLGN2):c.644G>A (p.Arg215His)	NLGN2 (R215H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698056	NM_020795.4(NLGN2):c.2465ACA[2] (p.Asn824del)	NLGN2 (N824del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1697049	NM_020795.4(NLGN2):c.1484G>T (p.Trp495Leu)	NLGN2 (W495L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1687708	NM_020795.4(NLGN2):c.1838C>A (p.Thr613Lys)	NLGN2 (T613K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679726	NM_020795.4(NLGN2):c.2436C>G (p.Phe812Leu)	NLGN2 (F812L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1667544	NM_020795.4(NLGN2):c.509-12dup	NLGN2	Duplication (intron variant)	not provided	GBenign
Select item 1660235	NM_020795.4(NLGN2):c.1533C>T (p.Pro511=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1659164	NM_020795.4(NLGN2):c.2148C>T (p.Gly716=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1656852	NM_020795.4(NLGN2):c.2260G>A (p.Gly754Arg)	NLGN2 (G754R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1639557	NM_020795.4(NLGN2):c.845-5G>T	NLGN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634861	NM_020795.4(NLGN2):c.2268C>T (p.Asp756=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1601290	NM_020795.4(NLGN2):c.738T>C (p.Ser246=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1601168	NM_020795.4(NLGN2):c.1128C>T (p.Tyr376=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1576609	NM_020795.4(NLGN2):c.2148C>G (p.Gly716=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1562065	NM_020795.4(NLGN2):c.2264C>T (p.Ala755Val)	NLGN2 (A755V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1559266	NM_020795.4(NLGN2):c.515G>A (p.Arg172His)	NLGN2 (R172H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1556964	NM_020795.4(NLGN2):c.1971C>T (p.Pro657=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1556954	NM_020795.4(NLGN2):c.1143C>T (p.Gly381=)	NLGN2	Single nucleotide variant (synonymous variant)	not provided	GBenign

<< First< Prev

Page of 2