ClinVar for Gene (Select 9378) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370150	NM_001330078.2(NRXN1):c.2537A>G (p.Asn846Ser)	NRXN1 (N809S +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368116	NM_001330078.2(NRXN1):c.-922+1G>A	NRXN1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3366171	NM_001330078.2(NRXN1):c.2514T>G (p.Asp838Glu)	NRXN1 (D801E +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365802	NM_001330078.2(NRXN1):c.1643G>A (p.Gly548Asp)	NRXN1 (G520D +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365625	NM_001330078.2(NRXN1):c.1666A>G (p.Met556Val)	NRXN1 (M528V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365099	NM_001330078.2(NRXN1):c.2626G>C (p.Gly876Arg)	NRXN1 (G839R +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364139	NM_001330078.2(NRXN1):c.3205G>T (p.Ala1069Ser)	NRXN1 (A1032S +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363637	NM_001330078.2(NRXN1):c.202C>A (p.Leu68Ile)	NRXN1 (L68I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363274	NM_001330078.2(NRXN1):c.4051A>C (p.Ile1351Leu)	NRXN1 (I1284L +13 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361282	NM_001330078.2(NRXN1):c.4376A>T (p.Asp1459Val)	NRXN1 (D1389V +20 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360979	NM_001330078.2(NRXN1):c.2666A>G (p.Asp889Gly)	NRXN1 (D852G +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360701	NM_001330078.2(NRXN1):c.3473C>T (p.Thr1158Ile)	NRXN1 (T1121I +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3350058	NM_001330078.2(NRXN1):c.2144-5T>C	NRXN1	Single nucleotide variant (intron variant)	NRXN1-related disorder	GUncertain significance
Select item 3344809	NM_001330078.2(NRXN1):c.1288G>C (p.Val430Leu)	NRXN1 (V402L +7 more)	Single nucleotide variant (missense variant)	NRXN1-related disorder	GUncertain significance
Select item 3343954	NM_001330078.2(NRXN1):c.1538C>T (p.Pro513Leu)	NRXN1 (P485L +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343953	NM_001330078.2(NRXN1):c.2971G>A (p.Val991Met)	NRXN1 (V1031M +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343256	NM_001330078.2(NRXN1):c.2831A>T (p.Tyr944Phe)	NRXN1 (Y907F +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340627	NM_001330078.2(NRXN1):c.175A>T (p.Lys59Ter)	NRXN1 (K59*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3340372	NM_001330078.2(NRXN1):c.3802G>A (p.Asp1268Asn)	NRXN1 (D1246N +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3301097	NM_001330078.2(NRXN1):c.1838T>G (p.Leu613Trp)	NRXN1 (L613W +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301095	NM_001330078.2(NRXN1):c.352C>G (p.Arg118Gly)	NRXN1 (R118G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301094	NM_001330078.2(NRXN1):c.2812C>G (p.Leu938Val)	NRXN1 (L916V +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247395	NC_000002.11:g.(?_51107396)_(51255135_?)del	NRXN1	Deletion	Pitt-Hopkins-like syndrome 2	GLikely pathogenic
Select item 3247394	NC_000002.11:g.(?_50724523)_(50808051_?)del	NRXN1	Deletion	Pitt-Hopkins-like syndrome 2	GLikely pathogenic
Select item 3247393	NC_000002.11:g.(?_50850729)_(50947381_?)del	NRXN1	Deletion	Pitt-Hopkins-like syndrome 2	GLikely pathogenic
Select item 3247392	NC_000002.11:g.(?_51148987)_(51153113_?)dup	NRXN1	Duplication	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 3247390	NC_000002.11:g.(?_50280389)_(50318652_?)dup	NRXN1	Duplication	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 3247389	NC_000002.11:g.(?_50692560)_(50780183_?)dup	NRXN1	Duplication	Pitt-Hopkins-like syndrome 2	GLikely pathogenic
Select item 3247388	NC_000002.11:g.(?_51148997)_(51153103_?)del	NRXN1	Deletion	Pitt-Hopkins-like syndrome 2	GPathogenic
Select item 3247387	NC_000002.11:g.(?_50692560)_(51153113_?)del	NRXN1	Deletion	Pitt-Hopkins-like syndrome 2	GPathogenic
Select item 3247386	NC_000002.11:g.(?_50733613)_(51153113_?)del	NRXN1	Deletion	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 3247385	NC_000002.11:g.(?_49189872)_(50464128_?)del	FSHR, NRXN1	Deletion	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 3247384	NC_000002.11:g.(?_50280399)_(50464118_?)del	NRXN1	Deletion	Pitt-Hopkins-like syndrome 2	GPathogenic
Select item 3247383	NC_000002.11:g.(?_50318441)_(50318652_?)del	NRXN1	Deletion	Pitt-Hopkins-like syndrome 2	GPathogenic
Select item 3233755	NM_001330078.2(NRXN1):c.763dup (p.Cys255fs)	NRXN1 (C255fs)	Duplication (frameshift variant)	Pitt-Hopkins-like syndrome 2	GPathogenic
Select item 3202239	NM_001330078.2(NRXN1):c.772+1075A>T	NRXN1 (H272L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3202237	NM_001330078.2(NRXN1):c.718C>A (p.Gln240Lys)	NRXN1 (Q240K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202236	NM_001330078.2(NRXN1):c.4459C>A (p.Gln1487Lys)	NRXN1 (Q122K +20 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202235	NM_001330078.2(NRXN1):c.4339A>G (p.Ile1447Val)	NRXN1 (I1387V +20 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202234	NM_001330078.2(NRXN1):c.404C>T (p.Ala135Val)	NRXN1 (A135V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202233	NM_001330078.2(NRXN1):c.358C>T (p.Arg120Cys)	NRXN1 (R120C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202232	NM_001330078.2(NRXN1):c.3429C>G (p.Asp1143Glu)	NRXN1 (D1126E +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202231	NM_001330078.2(NRXN1):c.2817T>G (p.Asp939Glu)	NRXN1 (D930E +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202230	NM_001330078.2(NRXN1):c.2632G>C (p.Ala878Pro)	NRXN1 (A851P +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202229	NM_001330078.2(NRXN1):c.2579C>T (p.Ser860Phe)	NRXN1 (S838F +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202226	NM_001330078.2(NRXN1):c.2509G>A (p.Gly837Ser)	NRXN1 (G815S +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202225	NM_001330078.2(NRXN1):c.221G>A (p.Gly74Asp)	NRXN1 (G74D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202224	NM_001330078.2(NRXN1):c.1968C>G (p.Ile656Met)	NRXN1 (I648M +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148936	GRCh37/hg19 2p16.3(chr2:51058325-51352282)x1	NRXN1	Copy number loss	not provided	GLikely pathogenic
Select item 3068171	NM_001330078.2(NRXN1):c.4070C>G (p.Thr1357Ser)	NRXN1 (T1290S +13 more)	Single nucleotide variant (missense variant)	Chromosome 2p16.3 deletion syndrome	GUncertain significance
Select item 3067604	NM_001330078.2(NRXN1):c.3365-109885C>G	NRXN1 (A32G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3067267	NM_001330078.2(NRXN1):c.4169G>A (p.Ser1390Asn)	NRXN1 (S1323N +14 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3062652	GRCh37/hg19 2p16.3(chr2:50861048-51874700)x1	NRXN1	Copy number loss	not specified	GPathogenic
Select item 3062649	GRCh37/hg19 2p16.3(chr2:50988748-51289587)x1	NRXN1	Copy number loss	not specified	GPathogenic
Select item 3062630	GRCh37/hg19 2p16.3(chr2:50954599-51351114)x1	NRXN1	Copy number loss	not specified	GPathogenic
Select item 3062598	GRCh37/hg19 2p16.3(chr2:51002769-51188464)x1	NRXN1	Copy number loss	not specified	GPathogenic
Select item 3062580	GRCh37/hg19 2p16.3(chr2:50130766-50170284)x3	NRXN1	Copy number gain	not specified	GUncertain significance
Select item 3062458	GRCh37/hg19 2p16.3(chr2:51027613-51480512)x1	NRXN1	Copy number loss	not specified	GPathogenic
Select item 3058639	NM_001330078.2(NRXN1):c.414G>C (p.Val138=)	NRXN1	Single nucleotide variant (synonymous variant)	NRXN1-related disorder	GLikely benign
Select item 3054421	NM_001330078.2(NRXN1):c.820+35G>C	NRXN1 (Q279H)	Single nucleotide variant (missense variant +1 more)	NRXN1-related disorder	GLikely benign
Select item 3053606	NM_001330078.2(NRXN1):c.832+2687C>T	NRXN1	Single nucleotide variant (3 prime UTR variant +1 more)	NRXN1-related disorder	GBenign
Select item 3051899	NM_001330078.2(NRXN1):c.820+50G>A	NRXN1	Single nucleotide variant (synonymous variant +1 more)	NRXN1-related disorder	GLikely benign
Select item 3051322	NM_001330078.2(NRXN1):c.832+2683A>G	NRXN1	Single nucleotide variant (3 prime UTR variant +1 more)	NRXN1-related disorder	GLikely benign
Select item 3047034	NM_001330078.2(NRXN1):c.3000C>T (p.Leu1000=)	NRXN1	Single nucleotide variant (synonymous variant)	NRXN1-related disorder	GLikely benign
Select item 3042197	NM_001330078.2(NRXN1):c.832+1873C>T	NRXN1	Single nucleotide variant (3 prime UTR variant +1 more)	NRXN1-related disorder	GBenign
Select item 3030553	NM_001330078.2(NRXN1):c.-31G>C	NRXN1	Single nucleotide variant (5 prime UTR variant)	NRXN1-related disorder	GLikely benign
Select item 3026997	NM_001330078.2(NRXN1):c.3443G>A (p.Arg1148Gln)	NRXN1 (R1111Q +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024985	NM_001330078.2(NRXN1):c.454G>A (p.Gly152Ser)	NRXN1 (G152S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024346	GRCh38/hg38 2p16.3(chr2:50590007-50802034)	LOC110121071, LOC129388861 +2 more	Copy number loss	Autism spectrum disorder	GLikely pathogenic
Select item 3024297	NM_001330078.2(NRXN1):c.314C>G (p.Ala105Gly)	NRXN1 (A105G)	Single nucleotide variant (missense variant)	Chromosome 2p16.3 deletion syndrome +1 more	GUncertain significance
Select item 3024175	NC_000002.12:g.(?_50574106)_(50580198_?)del	NRXN1	Deletion	Autism spectrum disorder	GUncertain significance
Select item 3023450	NM_001330078.2(NRXN1):c.1790C>A (p.Pro597His)	NRXN1 (P569H +7 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 3019696	NM_001330078.2(NRXN1):c.4129-11T>C	NRXN1	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 3019190	NM_001330078.2(NRXN1):c.2563C>T (p.Arg855Ter)	NRXN1 (R828* +9 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3018616	NM_001330078.2(NRXN1):c.2347+9C>G	NRXN1	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 3013801	NM_001330078.2(NRXN1):c.2144-15A>G	NRXN1	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 3013349	NM_001330078.2(NRXN1):c.3244+7G>T	NRXN1	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 3012423	NM_001330078.2(NRXN1):c.317A>C (p.Asp106Ala)	NRXN1 (D106A)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 3012376	NM_001330078.2(NRXN1):c.791-18C>T	NRXN1	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 3011488	NM_001330078.2(NRXN1):c.772+1141T>C	NRXN1	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 3010833	NM_001330078.2(NRXN1):c.2458A>G (p.Ser820Gly)	NRXN1 (S793G +9 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 3008602	NM_001330078.2(NRXN1):c.449T>G (p.Phe150Cys)	NRXN1 (F150C)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 3007426	NM_001330078.2(NRXN1):c.772+1053T>A	NRXN1 (C265S)	Single nucleotide variant (missense variant +1 more)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 3005682	NM_001330078.2(NRXN1):c.467G>C (p.Gly156Ala)	NRXN1 (G156A)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 3005631	NM_001330078.2(NRXN1):c.2807C>T (p.Thr936Ile)	NRXN1 (T899I +9 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2999929	NM_001330078.2(NRXN1):c.1787C>T (p.Thr596Ile)	NRXN1 (T578I +7 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2999440	NM_001330078.2(NRXN1):c.317A>G (p.Asp106Gly)	NRXN1 (D106G)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2998859	NM_001330078.2(NRXN1):c.1967T>C (p.Ile656Thr)	NRXN1 (I648T +7 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2996120	NM_001330078.2(NRXN1):c.480G>A (p.Pro160=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2995794	NM_001330078.2(NRXN1):c.4110A>G (p.Thr1370=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2990604	NM_001330078.2(NRXN1):c.159G>C (p.Glu53Asp)	NRXN1 (E53D)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2990000	NM_001330078.2(NRXN1):c.3720A>G (p.Gly1240=)	NRXN1	Single nucleotide variant (synonymous variant +1 more)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2986903	NM_001330078.2(NRXN1):c.1449C>T (p.Thr483=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2982510	NM_001330078.2(NRXN1):c.773-17T>C	NRXN1	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2979309	NM_001330078.2(NRXN1):c.4022C>G (p.Thr1341Ser)	NRXN1 (T1274S +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2976852	NM_001330078.2(NRXN1):c.2217T>C (p.Ala739=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2965606	NM_001330078.2(NRXN1):c.334G>A (p.Gly112Ser)	NRXN1 (G112S)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2964097	NM_001330078.2(NRXN1):c.1828G>A (p.Asp610Asn)	NRXN1 (D582N +7 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2963980	NM_001330078.2(NRXN1):c.1394T>C (p.Ile465Thr)	NRXN1 (I437T +7 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2961324	NM_001330078.2(NRXN1):c.3364+19_3364+20delinsGC	NRXN1	Indel (intron variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance

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