ClinVar for MedGen (Select 1718072) - ClinVar - NCBI

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Items: 18

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24344671.	NM_015354.3(NUP188):c.1355G>A (p.Arg452Gln) GRCh37: Chr9:131742970 GRCh38: Chr9:128980691	NUP188	R452Q	Sandestig-stefanova syndrome	Uncertain significance (Jan 27, 2022)	criteria provided, single submitter
Select item 23695502.	NM_015354.3(NUP188):c.1900C>T (p.Arg634Cys) GRCh37: Chr9:131745768 GRCh38: Chr9:128983489	NUP188	R634C	Inborn genetic diseases, Sandestig-stefanova syndrome	Uncertain significance (Jan 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21819703.	NM_015354.3(NUP188):c.3377_3378del (p.Ser1126fs) GRCh37: Chr9:131760453-131760454 GRCh38: Chr9:128998174-128998175	NUP188	S1126fs	Sandestig-stefanova syndrome, not provided	Pathogenic/Likely pathogenic (Jun 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13270184.	NM_015354.3(NUP188):c.1797-24T>C GRCh37: Chr9:131745548 GRCh38: Chr9:128983269	NUP188		Sandestig-stefanova syndrome	Benign (Sep 5, 2021)	criteria provided, single submitter
Select item 13270175.	NM_015354.3(NUP188):c.1203+31T>C GRCh37: Chr9:131735559 GRCh38: Chr9:128973280	NUP188		Sandestig-stefanova syndrome	Benign (Sep 5, 2021)	criteria provided, single submitter
Select item 11726176.	NM_015354.3(NUP188):c.1851_1852delinsG (p.Cys617fs) GRCh37: Chr9:131745626-131745627 GRCh38: Chr9:128983347-128983348	NUP188	C617fs	Sandestig-stefanova syndrome, Microcephaly	Likely pathogenic (Dec 14, 2020)	criteria provided, single submitter
Select item 11726167.	NM_015354.3(NUP188):c.3515+1G>A GRCh37: Chr9:131760903 GRCh38: Chr9:128998624	NUP188		Sandestig-stefanova syndrome, Microcephaly	Likely pathogenic (Dec 14, 2020)	criteria provided, single submitter
Select item 9180118.	NM_015354.3(NUP188):c.4078C>T (p.Gln1360Ter) GRCh37: Chr9:131764196 GRCh38: Chr9:129001917	NUP188	Q1360*	Sandestig-stefanova syndrome	Pathogenic (Jun 16, 2020)	no assertion criteria provided
Select item 9180109.	NM_015354.3(NUP188):c.1890G>A (p.Trp630Ter) GRCh37: Chr9:131745758 GRCh38: Chr9:128983479	NUP188	W630*	Sandestig-stefanova syndrome	Pathogenic (Jun 16, 2020)	no assertion criteria provided
Select item 91800910.	NM_015354.3(NUP188):c.5032dup (p.Arg1678fs) GRCh37: Chr9:131768601-131768602 GRCh38: Chr9:129006322-129006323	NUP188	R1678fs	Sandestig-stefanova syndrome	Pathogenic (Jun 16, 2020)	no assertion criteria provided
Select item 91800811.	NM_015354.3(NUP188):c.3144C>G (p.Tyr1048Ter) GRCh37: Chr9:131757191 GRCh38: Chr9:128994912	NUP188	Y1048*	Sandestig-stefanova syndrome	Pathogenic (Jun 16, 2020)	no assertion criteria provided
Select item 91800712.	NM_015354.3(NUP188):c.904_907del (p.Ile302fs) GRCh37: Chr9:131731783-131731786 GRCh38: Chr9:128969504-128969507	NUP188	I302fs	Sandestig-stefanova syndrome	Pathogenic (Jun 16, 2020)	no assertion criteria provided
Select item 81669413.	NM_015354.3(NUP188):c.287dup (p.Tyr96Ter) GRCh37: Chr9:131719270-131719271 GRCh38: Chr9:128956991-128956992	NUP188	Y96*	not provided	Uncertain significance (Oct 1, 2019)	criteria provided, single submitter
Select item 81043814.	NM_015354.3(NUP188):c.337C>T (p.Gln113Ter) GRCh37: Chr9:131720298 GRCh38: Chr9:128958019	NUP188	Q113*	not provided	Likely pathogenic (Dec 1, 2018)	criteria provided, single submitter
Select item 40326615.	NM_015354.3(NUP188):c.4596A>C (p.Ser1532=) GRCh37: Chr9:131767668 GRCh38: Chr9:129005389	NUP188		Sandestig-stefanova syndrome, not specified	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 40326516.	NM_015354.3(NUP188):c.4044+6A>C GRCh37: Chr9:131764014 GRCh38: Chr9:129001735	NUP188		not specified, Sandestig-stefanova syndrome, not provided	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 40326417.	NM_015354.3(NUP188):c.3662-4A>G GRCh37: Chr9:131761899 GRCh38: Chr9:128999620	NUP188		Sandestig-stefanova syndrome, not specified	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 40326318.	NM_015354.3(NUP188):c.3516-14A>G GRCh37: Chr9:131761437 GRCh38: Chr9:128999158	NUP188		Sandestig-stefanova syndrome, not specified	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts