ClinVar for MedGen (Select 1627611) - ClinVar

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Items: 29

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25849001.	NM_017807.4(OSGEP):c.875G>A (p.Cys292Tyr) GRCh37: Chr14:20915674 GRCh38: Chr14:20447515	OSGEP	C292Y	Galloway-Mowat syndrome 3	Uncertain significance	criteria provided, single submitter
Select item 24345162.	NM_017807.4(OSGEP):c.711_712del (p.Phe238fs) GRCh37: Chr14:20916144-20916145 GRCh38: Chr14:20447985-20447986	OSGEP	F238fs	Galloway-Mowat syndrome 3	Uncertain significance (Jan 10, 2022)	criteria provided, single submitter
Select item 16840383.	NM_017807.4(OSGEP):c.560G>T (p.Gly187Val) GRCh37: Chr14:20916968 GRCh38: Chr14:20448809	OSGEP	G187V	Galloway-Mowat syndrome 3	Likely pathogenic (May 14, 2022)	criteria provided, single submitter
Select item 16765124.	NM_017807.4(OSGEP):c.365G>T (p.Gly122Val)	OSGEP	G122V	Galloway-Mowat syndrome 3	Likely pathogenic (Apr 19, 2022)	criteria provided, single submitter
Select item 14319925.	NM_017807.4(OSGEP):c.763C>T (p.Gln255Ter) GRCh37: Chr14:20916093 GRCh38: Chr14:20447934	OSGEP	Q255*	Galloway-Mowat syndrome 3, not provided	Uncertain significance (Aug 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13316846.	NM_017807.4(OSGEP):c.550G>A (p.Ala184Thr) GRCh37: Chr14:20917130 GRCh38: Chr14:20448971	OSGEP	A184T	Galloway-Mowat syndrome 3	Uncertain significance	no assertion criteria provided
Select item 12361707.	NM_017807.4(OSGEP):c.839G>T (p.Arg280Leu) GRCh37: Chr14:20915804 GRCh38: Chr14:20447645	OSGEP	R280L	Galloway-Mowat syndrome 3	Likely pathogenic	criteria provided, single submitter
Select item 12361698.	NM_017807.4(OSGEP):c.695C>A (p.Ser232Tyr) GRCh37: Chr14:20916272 GRCh38: Chr14:20448113	OSGEP	S232Y	Galloway-Mowat syndrome 3	Likely pathogenic	criteria provided, single submitter
Select item 12297289.	NM_017807.4(OSGEP):c.236-32T>C GRCh37: Chr14:20920340 GRCh38: Chr14:20452181	LOC107372315, OSGEP		not provided, Galloway-Mowat syndrome 3	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 116818910.	NM_017807.4(OSGEP):c.558-17C>T GRCh37: Chr14:20916987 GRCh38: Chr14:20448828	OSGEP		not provided, Galloway-Mowat syndrome 3	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116535411.	NM_017807.4(OSGEP):c.294A>G (p.Gln98=) GRCh37: Chr14:20920250 GRCh38: Chr14:20452091	LOC107372315, OSGEP		Galloway-Mowat syndrome 3, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116535312.	NM_017807.4(OSGEP):c.570A>G (p.Leu190=) GRCh37: Chr14:20916958 GRCh38: Chr14:20448799	OSGEP		Galloway-Mowat syndrome 3, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116499113.	NM_017807.4(OSGEP):c.412-17T>A GRCh37: Chr14:20917442 GRCh38: Chr14:20449283	OSGEP		Galloway-Mowat syndrome 3, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103344714.	NM_017807.4(OSGEP):c.841G>A (p.Gly281Arg) GRCh37: Chr14:20915802 GRCh38: Chr14:20447643	OSGEP	G281R	Galloway-Mowat syndrome 3, Inborn genetic diseases	Uncertain significance (Jun 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103344615.	NM_017807.4(OSGEP):c.317G>T (p.Gly106Val) GRCh37: Chr14:20920227 GRCh38: Chr14:20452068	LOC107372315, OSGEP	G106V	Galloway-Mowat syndrome 3	Uncertain significance (Jul 20, 2018)	criteria provided, single submitter
Select item 99232416.	NM_017807.4(OSGEP):c.556C>T (p.Arg186Ter) GRCh37: Chr14:20917124 GRCh38: Chr14:20448965	OSGEP	R186*	Galloway-Mowat syndrome 3, not provided	Likely pathogenic (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97448817.	NM_017807.4(OSGEP):c.81C>G (p.Asn27Lys) GRCh37: Chr14:20922762 GRCh38: Chr14:20454603	LOC107372315, OSGEP	N27K	Galloway-Mowat syndrome 3	Likely pathogenic (Feb 1, 2020)	criteria provided, single submitter
Select item 97448718.	NM_017807.4(OSGEP):c.157A>T (p.Ile53Phe) GRCh37: Chr14:20920566 GRCh38: Chr14:20452407	LOC107372315, OSGEP	I53F	Galloway-Mowat syndrome 3	Likely pathogenic (Feb 1, 2020)	criteria provided, single submitter
Select item 59915719.	NM_017807.4(OSGEP):c.892A>T (p.Met298Leu) GRCh37: Chr14:20915657 GRCh38: Chr14:20447498	OSGEP	M298L	Galloway-Mowat syndrome 3	Uncertain significance (Aug 15, 2018)	no assertion criteria provided
Select item 52115720.	NM_017807.4(OSGEP):c.319G>A (p.Val107Met) GRCh37: Chr14:20920225 GRCh38: Chr14:20452066	OSGEP, LOC107372315	V107M	Inborn genetic diseases, Galloway-Mowat syndrome 3	Likely pathogenic (Feb 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44968721.	NM_017807.4(OSGEP):c.973C>T (p.Arg325Trp) GRCh37: Chr14:20915434 GRCh38: Chr14:20447275	OSGEP	R325W	Galloway-Mowat syndrome 3, not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 44489322.	NM_017807.4(OSGEP):c.740G>A (p.Arg247Gln) GRCh37: Chr14:20916116 GRCh38: Chr14:20447957	OSGEP	R247Q	Galloway-Mowat syndrome 3, not provided	Pathogenic (Sep 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44489223.	NM_017807.4(OSGEP):c.838C>T (p.Arg280Cys) GRCh37: Chr14:20915805 GRCh38: Chr14:20447646	OSGEP	R280C	Galloway-Mowat syndrome 3, Inborn genetic diseases, not provided	Likely pathogenic (Feb 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44489124.	NM_017807.4(OSGEP):c.332T>C (p.Ile111Thr) GRCh37: Chr14:20920212 GRCh38: Chr14:20452053	LOC107372315, OSGEP	I111T	not provided, Galloway-Mowat syndrome 3	Pathogenic/Likely pathogenic (Oct 26, 2017)	no assertion criteria provided
Select item 44489025.	NM_017807.4(OSGEP):c.839G>A (p.Arg280His) GRCh37: Chr14:20915804 GRCh38: Chr14:20447645	OSGEP	R280H	Galloway-Mowat syndrome 3	Pathogenic (Jun 8, 2020)	criteria provided, single submitter
Select item 44488926.	NM_017807.4(OSGEP):c.40A>T (p.Ile14Phe) GRCh37: Chr14:20922803 GRCh38: Chr14:20454644	LOC107372315, OSGEP	I14F	not provided	Pathogenic (Oct 23, 2020)	criteria provided, single submitter
Select item 44488827.	NM_017807.4(OSGEP):c.530G>C (p.Gly177Ala) GRCh37: Chr14:20917150 GRCh38: Chr14:20448991	OSGEP	G177A	not provided	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 44488728.	NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg) GRCh37: Chr14:20920216 GRCh38: Chr14:20452057	LOC107372315, OSGEP	C110R	See cases, Galloway-Mowat syndrome 3, not provided	Pathogenic/Likely pathogenic (Jul 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 44488629.	NM_017807.4(OSGEP):c.974G>A (p.Arg325Gln) GRCh37: Chr14:20915433 GRCh38: Chr14:20447274	OSGEP	R325Q	Galloway-Mowat syndrome	Pathogenic	criteria provided, single submitter

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Items: 29