ClinVar for Gene (Select 9379) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353989	NM_015080.4(NRXN2):c.3403+5489C>T	NRXN2 (P25L)	Single nucleotide variant (missense variant +1 more)	NRXN2-related disorder	GUncertain significance
Select item 3349548	NM_015080.4(NRXN2):c.1238A>G (p.Tyr413Cys)	NRXN2 (Y382C +4 more)	Single nucleotide variant (missense variant)	NRXN2-related disorder	GUncertain significance
Select item 3345162	NM_015080.4(NRXN2):c.4187T>G (p.Leu1396Arg)	NRXN2 (L1326R +8 more)	Single nucleotide variant (missense variant)	NRXN2-related disorder	GUncertain significance
Select item 3344222	NM_015080.4(NRXN2):c.1216G>A (p.Gly406Arg)	NRXN2 (G375R +4 more)	Single nucleotide variant (missense variant)	NRXN2-related disorder	GUncertain significance
Select item 3338591	NM_015080.4(NRXN2):c.1915C>G (p.Leu639Val)	NRXN2 (L608V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3301103	NM_015080.4(NRXN2):c.4865C>T (p.Pro1622Leu)	NRXN2 (P1421L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301102	NM_015080.4(NRXN2):c.3640G>C (p.Asp1214His)	NRXN2 (D89H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301101	NM_015080.4(NRXN2):c.837C>G (p.His279Gln)	NRXN2 (H278Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301100	NM_015080.4(NRXN2):c.5087C>G (p.Pro1696Arg)	NRXN2 (P1502R +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301099	NM_015080.4(NRXN2):c.4862G>A (p.Gly1621Asp)	NRXN2 (G1419D +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301098	NM_015080.4(NRXN2):c.4361C>G (p.Thr1454Arg)	NRXN2 (T1384R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244550	NC_000011.9:g.(?_63731700)_(64572142_?)del	BAD, CATSPERZ +28 more	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3239591	NM_015080.4(NRXN2):c.2708A>G (p.Tyr903Cys)	NRXN2 (Y863C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235835	NM_015080.4(NRXN2):c.2419A>C (p.Lys807Gln)	NRXN2 (K767Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3202252	NM_015080.4(NRXN2):c.832G>A (p.Val278Met)	NRXN2 (V278M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202251	NM_015080.4(NRXN2):c.74G>T (p.Arg25Leu)	NRXN2 (R25L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202250	NM_015080.4(NRXN2):c.73C>G (p.Arg25Gly)	NRXN2 (R25G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3202249	NM_015080.4(NRXN2):c.661G>A (p.Val221Met)	NRXN2 (V221M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202247	NM_015080.4(NRXN2):c.4391C>T (p.Pro1464Leu)	NRXN2 (P1394L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202246	NM_015080.4(NRXN2):c.4162A>G (p.Ser1388Gly)	NRXN2 (S1373G +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202245	NM_015080.4(NRXN2):c.4027G>A (p.Gly1343Arg)	NRXN2 (G218R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202244	NM_015080.4(NRXN2):c.371C>T (p.Thr124Met)	NRXN2 (T124M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202243	NM_015080.4(NRXN2):c.31C>G (p.Pro11Ala)	NRXN2 (P11A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202242	NM_015080.4(NRXN2):c.26C>T (p.Pro9Leu)	NRXN2 (P9L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3202241	NM_015080.4(NRXN2):c.2020G>A (p.Ala674Thr)	NRXN2 (A659T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3061113	NM_015080.4(NRXN2):c.4601C>G (p.Pro1534Arg)	NRXN2 (P1464R +2 more)	Single nucleotide variant (missense variant +1 more)	NRXN2-related disorder	GUncertain significance
Select item 3052308	NM_015080.4(NRXN2):c.1830G>A (p.Pro610=)	NRXN2	Single nucleotide variant (synonymous variant)	NRXN2-related disorder	GLikely benign
Select item 3043046	NM_015080.4(NRXN2):c.2409C>T (p.Cys803=)	NRXN2	Single nucleotide variant (synonymous variant +1 more)	NRXN2-related disorder	GBenign
Select item 3036999	NM_015080.4(NRXN2):c.2253G>A (p.Thr751=)	LOC126861232, NRXN2	Single nucleotide variant (synonymous variant)	NRXN2-related disorder	GLikely benign
Select item 2689612	NM_015080.4(NRXN2):c.89A>C (p.Glu30Ala)	NRXN2 (E30A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689611	NM_015080.4(NRXN2):c.1321T>C (p.Ser441Pro)	NRXN2 (S410P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689610	NM_015080.4(NRXN2):c.2515G>C (p.Val839Leu)	NRXN2 (V799L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689609	NM_015080.4(NRXN2):c.1888G>A (p.Gly630Ser)	NRXN2 (G599S +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2689608	NM_015080.4(NRXN2):c.4444del (p.Asp1482fs)	NRXN2 (D1412fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2685408	GRCh37/hg19 11q13.1(chr11:63643711-64533636)x1	BAD, CATSPERZ +29 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2664554	NM_015080.4(NRXN2):c.1108G>A (p.Asp370Asn)	NRXN2 (D346N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2641928	NM_015080.4(NRXN2):c.1523G>A (p.Arg508His)	NRXN2 (R477H +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2641927	NM_015080.4(NRXN2):c.2268G>A (p.Val756=)	LOC126861232, NRXN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636894	NM_015080.4(NRXN2):c.2606G>A (p.Arg869Gln)	NRXN2 (R829Q +4 more)	Single nucleotide variant (missense variant)	NRXN2-related disorder	GUncertain significance
Select item 2636089	NM_015080.4(NRXN2):c.1609C>T (p.Arg537Trp)	NRXN2 (R506W +4 more)	Single nucleotide variant (missense variant)	NRXN2-related disorder	GUncertain significance
Select item 2634931	NM_015080.4(NRXN2):c.3059C>T (p.Ser1020Phe)	NRXN2 (S1005F +4 more)	Single nucleotide variant (missense variant)	NRXN2-related disorder	GUncertain significance
Select item 2631543	NM_015080.4(NRXN2):c.3403+1G>A	NRXN2	Single nucleotide variant (splice donor variant)	NRXN2-related disorder	GUncertain significance
Select item 2629817	NM_015080.4(NRXN2):c.4259A>G (p.Glu1420Gly)	NRXN2 (E1350G +2 more)	Single nucleotide variant (missense variant +1 more)	NRXN2-related disorder	GUncertain significance
Select item 2615043	NM_015080.4(NRXN2):c.801G>C (p.Glu267Asp)	NRXN2 (E267D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613703	NM_015080.4(NRXN2):c.1549A>G (p.Ile517Val)	NRXN2 (I510V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613458	NM_015080.4(NRXN2):c.3556G>A (p.Gly1186Ser)	NRXN2 (G1186S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603981	NM_015080.4(NRXN2):c.10G>A (p.Gly4Arg)	NRXN2 (G4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603319	NM_015080.4(NRXN2):c.1900G>A (p.Gly634Arg)	NRXN2 (G626R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598438	NM_015080.4(NRXN2):c.191C>G (p.Ala64Gly)	NRXN2 (A64G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593272	NM_015080.4(NRXN2):c.1381T>C (p.Phe461Leu)	NRXN2 (F446L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590904	NM_015080.4(NRXN2):c.1327G>A (p.Val443Ile)	NRXN2 (V436I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588642	NM_015080.4(NRXN2):c.3976G>A (p.Glu1326Lys)	NRXN2 (E1256K +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551753	NM_015080.4(NRXN2):c.4987C>T (p.Arg1663Cys)	NRXN2 (R1432C +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549717	NM_015080.4(NRXN2):c.965A>G (p.Gln322Arg)	NRXN2 (Q298R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547868	NM_015080.4(NRXN2):c.2905G>A (p.Glu969Lys)	NRXN2 (E962K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534357	NM_015080.4(NRXN2):c.4823A>G (p.His1608Arg)	NRXN2 (H1608R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2534356	NM_015080.4(NRXN2):c.4651T>C (p.Phe1551Leu)	NRXN2 (F1481L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2530581	NM_015080.4(NRXN2):c.4415C>A (p.Pro1472His)	NRXN2 (P426H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527805	NM_015080.4(NRXN2):c.883A>C (p.Asn295His)	NRXN2 (N271H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524447	NM_015080.4(NRXN2):c.2605C>T (p.Arg869Trp)	NRXN2 (R854W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518731	NM_015080.4(NRXN2):c.601A>G (p.Thr201Ala)	NRXN2 (T201A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2511465	NM_015080.4(NRXN2):c.17G>T (p.Arg6Leu)	NRXN2 (R6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2505115	NM_015080.4(NRXN2):c.5038_5039del (p.Ser1680fs)	NRXN2 (S1449fs +9 more)	Deletion (frameshift variant)	Autism spectrum disorder +1 more	Gnot provided
Select item 2489543	NM_015080.4(NRXN2):c.4813G>C (p.Gly1605Arg)	NRXN2 (G1535R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486173	NM_015080.4(NRXN2):c.4777C>A (p.Pro1593Thr)	NRXN2 (P1523T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477204	NM_015080.4(NRXN2):c.1289G>C (p.Gly430Ala)	NRXN2 (G399A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476886	NM_015080.4(NRXN2):c.1378G>A (p.Asp460Asn)	NRXN2 (D429N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471328	NM_015080.4(NRXN2):c.3037G>A (p.Val1013Met)	NRXN2 (V998M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468659	NM_015080.4(NRXN2):c.4595C>A (p.Pro1532His)	NRXN2 (P1532H +2 more)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 2467817	NM_015080.4(NRXN2):c.287C>T (p.Ala96Val)	NRXN2 (A96V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463018	NM_015080.4(NRXN2):c.2456A>G (p.Asn819Ser)	NRXN2 (N779S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457877	NM_015080.4(NRXN2):c.1906C>T (p.Arg636Trp)	NRXN2 (R605W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443001	NM_015080.4(NRXN2):c.4323del (p.Phe1442fs)	NRXN2 (F1372fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2429007	NM_015080.4(NRXN2):c.1334A>G (p.Asn445Ser)	NRXN2 (N414S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2405920	NM_015080.4(NRXN2):c.4811C>T (p.Pro1604Leu)	NRXN2 (P558L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389321	NM_015080.4(NRXN2):c.376C>G (p.Leu126Val)	NRXN2 (L126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388503	NM_015080.4(NRXN2):c.7T>G (p.Ser3Ala)	NRXN2 (S3A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388502	NM_015080.4(NRXN2):c.19T>G (p.Trp7Gly)	NRXN2 (W7G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387769	NM_015080.4(NRXN2):c.1648C>T (p.Arg550Trp)	NRXN2 (R519W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375662	NM_015080.4(NRXN2):c.17G>C (p.Arg6Pro)	NRXN2 (R6P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373385	NM_015080.4(NRXN2):c.2053T>G (p.Phe685Val)	NRXN2 (F677V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370117	NM_015080.4(NRXN2):c.2738G>A (p.Arg913His)	NRXN2 (R905H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360197	NM_015080.4(NRXN2):c.641C>G (p.Ala214Gly)	NRXN2 (A214G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348189	NM_015080.4(NRXN2):c.143C>T (p.Ala48Val)	NRXN2 (A48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345126	NM_015080.4(NRXN2):c.23G>C (p.Arg8Pro)	NRXN2 (R8P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334104	NM_015080.4(NRXN2):c.1654G>A (p.Asp552Asn)	NRXN2 (D537N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322507	NM_015080.4(NRXN2):c.3254G>T (p.Arg1085Leu)	NRXN2 (R1045L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320722	NM_015080.4(NRXN2):c.4096A>G (p.Met1366Val)	NRXN2 (M1351V +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318320	NM_015080.4(NRXN2):c.4053G>T (p.Glu1351Asp)	NRXN2 (E1281D +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308967	NM_015080.4(NRXN2):c.2344C>T (p.Arg782Cys)	LOC126861232, NRXN2 (R782C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303460	NM_015080.4(NRXN2):c.1606C>T (p.Arg536Trp)	NRXN2 (R505W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296718	NM_015080.4(NRXN2):c.2132G>A (p.Arg711His)	NRXN2 (R680H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296653	NM_015080.4(NRXN2):c.4455C>A (p.Asp1485Glu)	NRXN2 (D1415E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278676	NM_015080.4(NRXN2):c.826G>A (p.Gly276Ser)	NRXN2 (G275S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270094	NM_015080.4(NRXN2):c.1607G>A (p.Arg536Gln)	NRXN2 (R528Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265611	NM_015080.4(NRXN2):c.3898C>T (p.Arg1300Trp)	NRXN2 (R1263W +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258631	NM_015080.4(NRXN2):c.3883A>T (p.Ile1295Phe)	NRXN2 (I1225F +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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