ClinVar for MedGen (Select 902184) - ClinVar

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Items: 21

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24291751.	NM_007363.5(NONO):c.276_288del (p.Lys92fs) GRCh37: ChrX:70511748-70511760 GRCh38: ChrX:71291898-71291910	NONO	K3fs, K92fs	Syndromic X-linked intellectual disability 34	Likely pathogenic (Jan 25, 2023)	criteria provided, single submitter
Select item 18059812.	NM_007363.5(NONO):c.298_307del (p.Ala100fs) GRCh37: ChrX:70511769-70511778 GRCh38: ChrX:71291919-71291928	NONO	A100fs, A11fs	Syndromic X-linked intellectual disability 34	Pathogenic (Sep 2, 2022)	criteria provided, single submitter
Select item 17046533.	NM_007363.5(NONO):c.154+1GT[2] GRCh37: ChrX:70510642-70510643 GRCh38: ChrX:71290792-71290793	NONO		Syndromic X-linked intellectual disability 34	Pathogenic (Sep 12, 2022)	no assertion criteria provided
Select item 17002154.	NM_007363.5(NONO):c.201_202dup (p.Lys68fs) GRCh37: ChrX:70511670-70511671 GRCh38: ChrX:71291820-71291821	NONO	K68fs	Syndromic X-linked intellectual disability 34	Pathogenic	criteria provided, single submitter
Select item 17002145.	NM_007363.5(NONO):c.279_282del (p.Phe94fs) GRCh37: ChrX:70511752-70511755 GRCh38: ChrX:71291902-71291905	NONO	F5fs, F94fs	Syndromic X-linked intellectual disability 34	Pathogenic	criteria provided, single submitter
Select item 16793536.	NM_007363.5(NONO):c.1242del (p.Gly415fs) GRCh37: ChrX:70518627 GRCh38: ChrX:71298777	NONO	G326fs, G415fs	Syndromic X-linked intellectual disability 34	Likely pathogenic (Aug 1, 2021)	criteria provided, single submitter
Select item 15962357.	NM_007363.5(NONO):c.154+11G>C GRCh37: ChrX:70510652 GRCh38: ChrX:71290802	NONO		not provided, Syndromic X-linked intellectual disability 34	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15262298.	NM_007363.5(NONO):c.315_318del (p.His106fs) GRCh37: ChrX:70511784-70511787 GRCh38: ChrX:71291934-71291937	NONO	H106fs, H17fs	Syndromic X-linked intellectual disability 34	Likely pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 13418449.	NM_007363.5(NONO):c.107C>T (p.Pro36Leu) GRCh37: ChrX:70510594 GRCh38: ChrX:71290744	NONO	P36L	Syndromic X-linked intellectual disability 34	Uncertain significance (Jan 22, 2021)	criteria provided, single submitter
Select item 121728910.	NM_007363.5(NONO):c.322_348+280del GRCh37: ChrX:70511796-70512102 GRCh38: ChrX:71291946-71292252	NONO		Syndromic X-linked intellectual disability 34	Likely pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 87344811.	NM_007363.5(NONO):c.651-1G>C GRCh37: ChrX:70516414 GRCh38: ChrX:71296564	NONO		Syndromic X-linked intellectual disability 34	Likely pathogenic (Oct 16, 2019)	criteria provided, single submitter
Select item 83399912.	NM_007363.5(NONO):c.457C>T (p.Arg153Ter) GRCh37: ChrX:70514185 GRCh38: ChrX:71294335	NONO	R64, R153	Syndromic X-linked intellectual disability 34	Pathogenic (Jul 1, 2019)	criteria provided, single submitter
Select item 81217913.	NM_007363.5(NONO):c.1191_1192del (p.Asn397fs) GRCh37: ChrX:70518575-70518576 GRCh38: ChrX:71298725-71298726	NONO	N308fs, N397fs	Syndromic X-linked intellectual disability 34	Likely pathogenic (Dec 11, 2019)	criteria provided, single submitter
Select item 80745214.	NM_007363.5(NONO):c.107del (p.Pro36fs) GRCh37: ChrX:70510593 GRCh38: ChrX:71290743	NONO	P36fs	Syndromic X-linked intellectual disability 34	Pathogenic (May 16, 2018)	criteria provided, single submitter
Select item 69162115.	NM_007363.5(NONO):c.550C>T (p.Arg184Ter) GRCh37: ChrX:70514278 GRCh38: ChrX:71294428	NONO	R184, R95	Inborn genetic diseases	Pathogenic (Dec 19, 2017)	criteria provided, single submitter
Select item 43877816.	NM_007363.5(NONO):c.731dup (p.Asn244fs) GRCh37: ChrX:70516489-70516490 GRCh38: ChrX:71296639-71296640	NONO	N155fs, N244fs	Syndromic X-linked intellectual disability 34	Pathogenic	criteria provided, single submitter
Select item 42777817.	NM_007363.5(NONO):c.1171G>T (p.Gly391Cys) GRCh37: ChrX:70518358 GRCh38: ChrX:71298508	NONO	G391C, G302C	Syndromic X-linked intellectual disability 34	Pathogenic (Aug 20, 2021)	no assertion criteria provided
Select item 23509918.	NM_007363.5(NONO):c.1171+1G>T GRCh37: ChrX:70518359 GRCh38: ChrX:71298509	NONO		Syndromic X-linked intellectual disability 34	Pathogenic (Sep 16, 2019)	no assertion criteria provided
Select item 22208319.	NM_007363.5(NONO):c.1093C>T (p.Arg365Ter) GRCh37: ChrX:70517750 GRCh38: ChrX:71297900	NONO	R365, R276	Syndromic X-linked intellectual disability 34	Pathogenic (Aug 20, 2021)	no assertion criteria provided
Select item 22208220.	NM_007363.5(NONO):c.1394dup (p.Asn466fs) GRCh37: ChrX:70519900-70519901 GRCh38: ChrX:71300050-71300051	NONO	N377fs, N466fs	Syndromic X-linked intellectual disability 34	Pathogenic (Aug 28, 2019)	criteria provided, single submitter
Select item 22208121.	NM_007363.5(NONO):c.1131G>A (p.Ala377=) GRCh37: ChrX:70517788 GRCh38: ChrX:71297938	NONO		Inborn genetic diseases, Syndromic X-linked intellectual disability 34, not provided	Pathogenic (May 6, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 21