ClinVar for MedGen (Select 482109) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233755	NM_001330078.2(NRXN1):c.763dup (p.Cys255fs)	NRXN1 (C255fs)	Duplication (frameshift variant)	Pitt-Hopkins-like syndrome 2	GPathogenic
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 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)	Pitt-Hopkins-like syndrome 2	GPathogenic
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
Select item 2961193	NM_001330078.2(NRXN1):c.3071-13G>C	NRXN1	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2957739	NM_001330078.2(NRXN1):c.1647C>T (p.His549=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2957263	NM_001330078.2(NRXN1):c.4G>C (p.Gly2Arg)	NRXN1 (G2R)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2917844	NM_001330078.2(NRXN1):c.637G>T (p.Gly213Trp)	NRXN1 (G213W)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2914054	NM_001330078.2(NRXN1):c.1135-14C>T	NRXN1	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2912900	NM_001330078.2(NRXN1):c.3365-15G>A	NRXN1	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2911043	NM_001330078.2(NRXN1):c.820+11T>C	NRXN1	Single nucleotide variant (intron variant +1 more)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2910638	NM_001330078.2(NRXN1):c.3630G>A (p.Gly1210=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2909219	NM_001330078.2(NRXN1):c.1050C>A (p.Ala350=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2907726	NM_001330078.2(NRXN1):c.2274C>G (p.Thr758=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2905170	NM_001330078.2(NRXN1):c.1128G>T (p.Leu376=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2904671	NM_001330078.2(NRXN1):c.2480A>G (p.Asp827Gly)	NRXN1 (D819G +9 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2904596	NM_001330078.2(NRXN1):c.2910T>C (p.Asn970=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2903653	NM_001330078.2(NRXN1):c.790+19A>G	NRXN1	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2902502	NM_001330078.2(NRXN1):c.4129-9C>A	NRXN1	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2901948	NM_001330078.2(NRXN1):c.338C>G (p.Ala113Gly)	NRXN1 (A113G)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2900732	NM_001330078.2(NRXN1):c.969C>T (p.His323=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2899589	NM_001330078.2(NRXN1):c.832+20C>G	NRXN1	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2899320	NM_001330078.2(NRXN1):c.1503T>A (p.Thr501=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2898226	NM_001330078.2(NRXN1):c.144C>T (p.Ala48=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2897185	NM_001330078.2(NRXN1):c.2205G>A (p.Met735Ile)	NRXN1 (M717I +7 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2895605	NM_001330078.2(NRXN1):c.739C>A (p.Arg247=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2892774	NM_001330078.2(NRXN1):c.789A>G (p.Glu263=)	NRXN1	Single nucleotide variant (synonymous variant +1 more)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2889082	NM_001330078.2(NRXN1):c.255C>T (p.Arg85=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2888616	NM_001330078.2(NRXN1):c.2082G>A (p.Gly694=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2887111	NM_001330078.2(NRXN1):c.1870G>A (p.Gly624Ser)	NRXN1 (G616S +7 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2886736	NM_001330078.2(NRXN1):c.3907A>G (p.Asn1303Asp)	NRXN1 (N1236D +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2884915	NM_001330078.2(NRXN1):c.738G>C (p.Ser246=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2883942	NM_001330078.2(NRXN1):c.820+17T>A	NRXN1	Single nucleotide variant (synonymous variant +1 more)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2882902	NM_001330078.2(NRXN1):c.2348-13C>A	NRXN1	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome 2	GBenign
Select item 2881949	NM_001330078.2(NRXN1):c.3195C>A (p.Leu1065=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2881690	NM_001330078.2(NRXN1):c.4140C>T (p.Asp1380=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2878843	NM_001330078.2(NRXN1):c.1323T>C (p.Val441=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2877537	NM_001330078.2(NRXN1):c.791-5_791-4insA	NRXN1	Insertion (intron variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2876469	NM_001330078.2(NRXN1):c.4200G>A (p.Pro1400=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2871100	NM_001330078.2(NRXN1):c.772+1043C>A	NRXN1 (F261L)	Single nucleotide variant (intron variant +1 more)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2870311	NM_001330078.2(NRXN1):c.3247C>T (p.Pro1083Ser)	NRXN1 (P1061S +9 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2869944	NM_001330078.2(NRXN1):c.1159-20C>T	NRXN1	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2868557	NM_001330078.2(NRXN1):c.1824C>T (p.Asp608=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2865881	NM_001330078.2(NRXN1):c.4217-14C>A	NRXN1	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2865629	NM_001330078.2(NRXN1):c.1134+20G>A	NRXN1	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2862559	NM_001330078.2(NRXN1):c.3757C>A (p.Arg1253=)	NRXN1	Single nucleotide variant (synonymous variant +1 more)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2861953	NM_001330078.2(NRXN1):c.1153G>T (p.Ala385Ser)	NRXN1 (A381S +4 more)	Single nucleotide variant (missense variant +1 more)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2861941	NM_001330078.2(NRXN1):c.1030A>C (p.Ile344Leu)	NRXN1 (I324L +5 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2859806	NM_001330078.2(NRXN1):c.2094T>C (p.Tyr698=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2859383	NM_001330078.2(NRXN1):c.3778C>T (p.Arg1260Ter)	NRXN1 (R1251* +7 more)	Single nucleotide variant (nonsense +1 more)	Pitt-Hopkins-like syndrome 2	GPathogenic
Select item 2858371	NM_001330078.2(NRXN1):c.3657G>A (p.Arg1219=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2857422	NM_001330078.2(NRXN1):c.2297C>T (p.Thr766Ile)	NRXN1 (T748I +7 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2856621	NM_001330078.2(NRXN1):c.3070+20G>C	NRXN1	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2855743	NM_001330078.2(NRXN1):c.3809-10_3809-8del	NRXN1	Microsatellite (intron variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2855277	NM_001330078.2(NRXN1):c.1059A>G (p.Ala353=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2854928	NM_001330078.2(NRXN1):c.3864G>C (p.Glu1288Asp)	NRXN1 (E1231D +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2854717	NM_001330078.2(NRXN1):c.2225_2228dup (p.Leu744fs)	NRXN1 (L731fs +7 more)	Duplication (frameshift variant)	Pitt-Hopkins-like syndrome 2	GPathogenic
Select item 2853858	NM_001330078.2(NRXN1):c.1007A>G (p.Lys336Arg)	NRXN1 (K332R +5 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2853405	NM_001330078.2(NRXN1):c.3738C>T (p.Arg1246=)	NRXN1	Single nucleotide variant (synonymous variant +1 more)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2851555	NM_001330078.2(NRXN1):c.505C>T (p.Leu169Phe)	NRXN1 (L169F)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2851450	NM_001330078.2(NRXN1):c.2447G>T (p.Arg816Leu)	NRXN1 (R815L +9 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2851410	NM_001330078.2(NRXN1):c.2204T>G (p.Met735Arg)	NRXN1 (M707R +7 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2850975	NM_001330078.2(NRXN1):c.340T>G (p.Trp114Gly)	NRXN1 (W114G)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2848929	NM_001330078.2(NRXN1):c.3070+1G>A	NRXN1	Single nucleotide variant (splice donor variant)	Pitt-Hopkins-like syndrome 2	GLikely pathogenic
Select item 2848848	NM_001330078.2(NRXN1):c.673G>A (p.Gly225Ser)	NRXN1 (G225S)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2848610	NM_001330078.2(NRXN1):c.2638A>C (p.Ile880Leu)	NRXN1 (I863L +9 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2848238	NM_001330078.2(NRXN1):c.1652A>G (p.Tyr551Cys)	NRXN1 (Y547C +7 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2847609	NM_001330078.2(NRXN1):c.3546+20G>T	NRXN1	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2847576	NM_001330078.2(NRXN1):c.85A>C (p.Ser29Arg)	NRXN1 (S29R)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2846671	NM_001330078.2(NRXN1):c.791-8C>T	NRXN1	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2845444	NM_001330078.2(NRXN1):c.2000G>T (p.Gly667Val)	NRXN1 (G659V +7 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 2845190	NM_001330078.2(NRXN1):c.6G>C (p.Gly2=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2	GLikely benign
Select item 2844253	NM_001330078.2(NRXN1):c.1463_1464del (p.Glu488fs)	NRXN1 (E475fs +7 more)	Microsatellite (frameshift variant)	Pitt-Hopkins-like syndrome 2	GPathogenic

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