Related gene-specific medical variations for Gene (Select 9378) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 191

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2684564	GRCh37/hg19 2p16.3(chr2:51201101-51512609)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 2684553	GRCh37/hg19 2p16.3(chr2:51130351-51216518)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 2684542	GRCh37/hg19 2p16.3(chr2:51078336-51512609)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 2684531	GRCh37/hg19 2p16.3(chr2:51008640-51089736)x1	NRXN1	Copy number loss	not provided	GUncertain significance
Select item 2684520	GRCh37/hg19 2p16.3(chr2:50975816-51411126)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 2684509	GRCh37/hg19 2p16.3(chr2:50766007-50927534)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 2671590	Single allele	NRXN1	Deletion	not provided	GLikely pathogenic
Select item 2571130	GRCh37/hg19 2p16.3(chr2:50984755-51256334)x1	NRXN1	Copy number loss	not provided	GLikely pathogenic
Select item 2432332	NM_001330078.2(NRXN1):c.3364+1G>T	NRXN1	Single nucleotide variant (splice donor variant)	Pitt-Hopkins-like syndrome 2	GLikely pathogenic
Select item 2430078	NM_001330078.2(NRXN1):c.471dup (p.Leu158fs)	NRXN1 (L158fs)	Duplication (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 2430077	NM_001330078.2(NRXN1):c.1066del (p.Glu356fs)	NRXN1 (E336fs +5 more)	Deletion (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 2429871	NM_001330078.2(NRXN1):c.3071-1G>C	NRXN1	Single nucleotide variant (splice acceptor variant)	Autism spectrum disorder	GUncertain significance
Select item 2429825	NM_001330078.2(NRXN1):c.1832A>T (p.Asp611Val)	NRXN1 (D583V +7 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2428638	NM_001330078.2(NRXN1):c.4265A>C (p.Glu1422Ala)	NRXN1 (E1352A +20 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1808903	GRCh37/hg19 2p16.3(chr2:51047025-51135808)x1	NRXN1	Copy number loss	not provided	GUncertain significance
Select item 1808888	GRCh37/hg19 2p16.3(chr2:50885714-51190225)x3	NRXN1	Copy number gain	not provided	GUncertain significance
Select item 1808732	GRCh37/hg19 2p16.3(chr2:51085470-51400479)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 1808706	GRCh37/hg19 2p16.3(chr2:51183119-51354468)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 1808689	GRCh37/hg19 2p16.3(chr2:51047025-51209824)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 1808660	GRCh37/hg19 2p16.3(chr2:51009232-51492867)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 1808507	GRCh37/hg19 2p16.3(chr2:50961916-51023090)x1	NRXN1	Copy number loss	not provided	GUncertain significance
Select item 1808484	GRCh37/hg19 2p16.3(chr2:50959193-51027599)x1	NRXN1	Copy number loss	not provided	GUncertain significance
Select item 1808458	GRCh37/hg19 2p16.3(chr2:51089736-51113216)x1	NRXN1	Copy number loss	not provided	GUncertain significance
Select item 1807818	GRCh37/hg19 2p16.3(chr2:50838595-51078612)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 1807795	GRCh37/hg19 2p16.3(chr2:50765561-51220138)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 1807791	GRCh37/hg19 2p16.3(chr2:50868551-51521625)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 1807720	GRCh37/hg19 2p16.3(chr2:51014918-51470037)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 1711133	GRCh37/hg19 2p16.3(chr2:51015693-51158769)	NRXN1	Copy number loss	See cases	GUncertain significance
Select item 1710522	GRCh37/hg19 2p16.3(chr2:51139921-51400512)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 1710510	GRCh37/hg19 2p16.3(chr2:51051317-51539568)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 1706495	GRCh37/hg19 2p16.3(chr2:51062934-51433041)x1	NRXN1	Copy number loss	See cases	GPathogenic
Select item 1705940	GRCh37/hg19 2p16.3(chr2:51125057-51216518)x1	NRXN1	Copy number loss	Motor development delay	GPathogenic
Select item 1696570	NC_000002.12:g.50371182_50397380del	NRXN1	Deletion	NRXN1-related Complex neurodevelopmental disorder	GUncertain significance
Select item 1679188	GRCh37/hg19 2p16.3(chr2:50671549-50860852)x1	NRXN1	Copy number loss	del2p16.3	GPathogenic
Select item 1526718	GRCh37/hg19 2p16.3(chr2:51248751-51354468)x1	NRXN1	Copy number loss	not specified	GPathogenic
Select item 1526707	GRCh37/hg19 2p16.3(chr2:51234059-51263065)	NRXN1	Copy number loss	not specified	GPathogenic
Select item 1526696	GRCh37/hg19 2p16.3(chr2:51225621-51304763)	NRXN1	Copy number loss	not specified	GPathogenic
Select item 1526685	GRCh37/hg19 2p16.3(chr2:51181652-51343169)	NRXN1	Copy number gain	not specified	GUncertain significance
Select item 1526674	GRCh37/hg19 2p16.3(chr2:51125057-51216518)	NRXN1	Copy number loss	not specified	GPathogenic
Select item 1526663	GRCh37/hg19 2p16.3(chr2:51107112-51206342)	NRXN1	Copy number loss	not specified	GPathogenic
Select item 1526652	GRCh37/hg19 2p16.3(chr2:51032041-51189570)	NRXN1	Copy number loss	not specified	GPathogenic
Select item 1526640	GRCh37/hg19 2p16.3(chr2:51027613-51216518)	NRXN1	Copy number loss	not specified	GPathogenic
Select item 1526629	GRCh37/hg19 2p16.3(chr2:50995812-51263065)	NRXN1	Copy number loss	not specified	GPathogenic
Select item 1526618	GRCh37/hg19 2p16.3(chr2:50980691-51236988)	NRXN1	Copy number loss	not specified	GPathogenic
Select item 1526607	GRCh37/hg19 2p16.3(chr2:50964034-51915187)	NRXN1	Copy number loss	not specified	GPathogenic
Select item 1526596	GRCh37/hg19 2p16.3(chr2:50899934-51556145)	NRXN1	Copy number loss	not specified	GPathogenic
Select item 1526585	GRCh37/hg19 2p16.3(chr2:50838594-51119793)	NRXN1	Copy number loss	not specified	GPathogenic
Select item 1526574	GRCh37/hg19 2p16.3(chr2:50813343-50948464)	NRXN1	Copy number loss	not specified	GPathogenic
Select item 1526563	GRCh37/hg19 2p16.3(chr2:50730130-50897456)	NRXN1	Copy number loss	not specified	GPathogenic
Select item 1341259	GRCh37/hg19 2p16.3(chr2:51002884-51257328)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 1341185	GRCh37/hg19 2p16.3(chr2:51089735-51113216)x1	NRXN1	Copy number loss	not provided	GUncertain significance
Select item 1341164	GRCh37/hg19 2p16.3(chr2:50964034-51002770)x1	NRXN1	Copy number loss	not provided	GUncertain significance
Select item 1341137	GRCh37/hg19 2p16.3(chr2:51193858-51433041)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 1341023	GRCh37/hg19 2p16.3(chr2:50871418-51603924)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 1340941	GRCh37/hg19 2p16.3(chr2:50946060-51005515)x1	NRXN1	Copy number loss	not provided	GUncertain significance
Select item 1340730	GRCh37/hg19 2p16.3(chr2:51118080-51348997)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 1340032	GRCh37/hg19 2p16.3(chr2:51193858-51228505)x1	NRXN1	Copy number loss	not provided	GUncertain significance
Select item 1339972	GRCh37/hg19 2p16.3(chr2:50991242-51158769)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 1339920	GRCh37/hg19 2p16.3(chr2:50646240-50775949)x1	NRXN1	Copy number loss	Pitt-Hopkins-like syndrome 2	Gnot provided
Select item 1324821	NM_001330078.2(NRXN1):c.3835C>T (p.Gln1279Ter)	NRXN1 (Q1212* +13 more)	Single nucleotide variant (nonsense)	Pitt-Hopkins-like syndrome 2	GLikely pathogenic
Select item 1324820	NM_001330078.2(NRXN1):c.3625del (p.Asp1209fs)	NRXN1 (D1172fs +10 more)	Deletion (frameshift variant)	Pitt-Hopkins-like syndrome 2	GLikely pathogenic
Select item 1319299	NM_001330078.2(NRXN1):c.1125del (p.Leu376fs)	NRXN1 (L356fs +5 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1299323	NM_001135659.3:c.(?_-921)_(931+1_932-1)del	NRXN1	Deletion	Autism +4 more	GPathogenic
Select item 997090	GRCh37/hg19 2p16.3(chr2:50850691-51358881)	NRXN1	Copy number loss	Functional abnormality of the bladder +1 more	GPathogenic
Select item 997063	GRCh37/hg19 2p16.3(chr2:51172123-51314430)	NRXN1	Copy number loss	Delayed speech and language development	GPathogenic
Select item 997062	GRCh37/hg19 2p16.3(chr2:51251498-51491417)	NRXN1	Copy number loss	Atypical behavior +1 more	GPathogenic
Select item 983388	NM_001330078.2(NRXN1):c.832+42589_832+123997del	NRXN1	Deletion (intron variant)	Intellectual disability	GUncertain significance
Select item 980992	GRCh37/hg19 2p16.3(chr2:50379638-50453751)x1	NRXN1	Copy number loss	not provided	GUncertain significance
Select item 980991	GRCh37/hg19 2p16.3(chr2:50770184-50813046)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 980990	GRCh37/hg19 2p16.3(chr2:51080862-51411126)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 980989	GRCh37/hg19 2p16.3(chr2:51148272-51363855)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 980988	GRCh37/hg19 2p16.3(chr2:51150534-51188464)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 980987	GRCh37/hg19 2p16.3(chr2:50947539-51512609)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 980986	GRCh37/hg19 2p16.3(chr2:51141570-51272118)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 980985	GRCh37/hg19 2p16.3(chr2:50975815-51328796)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 980984	GRCh37/hg19 2p16.3(chr2:50889123-51375539)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 980983	GRCh37/hg19 2p16.3(chr2:50369632-50470202)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 979349	GRCh37/hg19 2p16.3(chr2:51259520-51301447)x1	NRXN1	Copy number loss	not provided	GUncertain significance
Select item 979348	GRCh37/hg19 2p16.3(chr2:50927073-50996165)x1	NRXN1	Copy number loss	not provided	GUncertain significance
Select item 979347	GRCh37/hg19 2p16.3(chr2:50977215-51085505)x1	NRXN1	Copy number loss	not provided	GUncertain significance
Select item 979346	GRCh37/hg19 2p16.3(chr2:50860228-50971175)x1	NRXN1	Copy number loss	not provided	GUncertain significance
Select item 979345	GRCh37/hg19 2p16.3(chr2:51089735-51118081)x1	NRXN1	Copy number loss	not provided	GUncertain significance
Select item 979342	GRCh37/hg19 2p16.3(chr2:50250334-50272270)x1	NRXN1	Copy number loss	not provided	GUncertain significance
Select item 979340	GRCh37/hg19 2p16.3(chr2:51027613-51147477)x1	NRXN1	Copy number loss	not provided	GUncertain significance
Select item 975306	NM_001330078.2(NRXN1):c.1697T>C (p.Leu566Pro)	NRXN1 (L538P +7 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975305	NM_001330078.2(NRXN1):c.3112T>G (p.Ser1038Ala)	NRXN1 (S1001A +9 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 932129	NM_001330078.2(NRXN1):c.4444G>A (p.Val1482Ile)	NRXN1 (V1412I +20 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 931071	NM_001330078.2(NRXN1):c.3365-109952G>T	NRXN1 (A10S)	Single nucleotide variant (missense variant +1 more)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 930930	NM_001330078.2(NRXN1):c.772+1116A>G	NRXN1 (K286E)	Single nucleotide variant (missense variant +1 more)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 814258	GRCh37/hg19 2p16.3(chr2:51248751-51540487)x1	NRXN1	Copy number loss	not provided	GLikely pathogenic
Select item 814257	GRCh37/hg19 2p16.3(chr2:51141391-51324495)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 814256	GRCh37/hg19 2p16.3(chr2:51139206-51602566)x1	NRXN1	Copy number loss	not provided	GPathogenic
Select item 814255	GRCh37/hg19 2p16.3(chr2:51099779-51490709)x1	NRXN1	Copy number loss	not provided	GPathogenic

<< First< Prev

Page of 2