ClinVar for MedGen (Select 1788942) - ClinVar - NCBI

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Items: 13

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24345301.	NM_001136157.2(OTUD5):c.657G>C (p.Lys219Asn) GRCh37: ChrX:48801482 GRCh38: ChrX:48944221	OTUD5	K219N, K2N	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 24345292.	NM_001136157.2(OTUD5):c.1375C>A (p.His459Asn) GRCh37: ChrX:48781218 GRCh38: ChrX:48923941	OTUD5	H242N, H459N, H464N	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	Uncertain significance (Sep 30, 2022)	criteria provided, single submitter
Select item 22040873.	NM_001136157.2(OTUD5):c.1543C>T (p.Arg515Trp) GRCh37: ChrX:48780946 GRCh38: ChrX:48923669	OTUD5	R520W, R298W, R515W	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Feb 23, 2023)	criteria provided, conflicting interpretations
Select item 18017204.	NM_001136157.2(OTUD5):c.655A>G (p.Lys219Glu) GRCh37: ChrX:48801484 GRCh38: ChrX:48944223	OTUD5	K219E, K2E	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	Uncertain significance (Nov 17, 2022)	criteria provided, single submitter
Select item 17101545.	NM_001136157.2(OTUD5):c.1511C>T (p.Pro504Leu) GRCh37: ChrX:48780978 GRCh38: ChrX:48923701	OTUD5	P287L, P504L, P509L	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	Uncertain significance (Oct 9, 2022)	no assertion criteria provided
Select item 16993706.	NM_001136157.2(OTUD5):c.491G>A (p.Gly164Asp) GRCh37: ChrX:48814342 GRCh38: ChrX:48957080	OTUD5	G164D	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 16965247.	NM_001136157.2(OTUD5):c.151G>A (p.Asp51Asn) GRCh37: ChrX:48814682 GRCh38: ChrX:48957420	OTUD5	D51N	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	Uncertain significance (Jul 30, 2021)	criteria provided, single submitter
Select item 11745018.	NM_001136157.2(OTUD5):c.1477C>T (p.Gln493Ter) GRCh37: ChrX:48781012 GRCh38: ChrX:48923735	OTUD5	Q276, Q493, Q498*	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	Pathogenic (Apr 22, 2021)	no assertion criteria provided
Select item 9963269.	NM_001136157.2(OTUD5):c.1195C>T (p.Arg399Trp) GRCh37: ChrX:48783191 GRCh38: ChrX:48925915	OTUD5	R404W, R182W, R399W	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	Pathogenic (Feb 9, 2021)	no assertion criteria provided
Select item 99632510.	NM_001136157.2(OTUD5):c.820C>T (p.Arg274Trp) GRCh37: ChrX:48792074 GRCh38: ChrX:48934801	OTUD5	R274W, R57W	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	Pathogenic (Feb 9, 2021)	no assertion criteria provided
Select item 99632411.	NM_001136157.2(OTUD5):c.1040T>C (p.Leu347Pro) GRCh37: ChrX:48791756 GRCh38: ChrX:48934483	OTUD5	L352P, L130P, L347P	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	Pathogenic (Aug 6, 2021)	no assertion criteria provided
Select item 99632312.	NM_001136157.2(OTUD5):c.1465G>A (p.Gly489Ser) GRCh37: ChrX:48781128 GRCh38: ChrX:48923851	OTUD5	G494S, G272S, G489S	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	Pathogenic (Apr 6, 2021)	criteria provided, single submitter
Select item 99632213.	NM_001136157.2(OTUD5):c.598G>A (p.Glu200Lys) GRCh37: ChrX:48801541 GRCh38: ChrX:48944280	OTUD5	E200K	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	Pathogenic (Feb 9, 2021)	no assertion criteria provided