ClinVar for MedGen (Select 412874) - ClinVar

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Items: 30

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16591371.	NM_001014.5(RPS10):c.351C>T (p.Leu117=) GRCh37: Chr6:34389556 GRCh38: Chr6:34421779	RPS10-NUDT3, RPS10		Diamond-Blackfan anemia 9, Diamond-Blackfan anemia	Likely benign (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15584222.	NM_001014.5(RPS10):c.312T>A (p.Pro104=) GRCh37: Chr6:34392456 GRCh38: Chr6:34424679	RPS10, RPS10-NUDT3		Diamond-Blackfan anemia, Diamond-Blackfan anemia 9	Likely benign (Apr 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13368433.	NM_001014.5(RPS10):c.444C>T (p.Thr148=) GRCh37: Chr6:34386158 GRCh38: Chr6:34418381	RPS10, RPS10-NUDT3		Diamond-Blackfan anemia, not specified, Diamond-Blackfan anemia 9	Benign/Likely benign (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9975114.	NM_001014.5(RPS10):c.89C>T (p.Pro30Leu) GRCh37: Chr6:34392910 GRCh38: Chr6:34425133	RPS10-NUDT3, RPS10	P30L	Diamond-Blackfan anemia 9, Diamond-Blackfan anemia	Uncertain significance (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9075895.	NM_001014.5(RPS10):c.-27C>A GRCh37: Chr6:34393835 GRCh38: Chr6:34426058	RPS10, RPS10-NUDT3		Diamond-Blackfan anemia 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9075886.	NM_001014.5(RPS10):c.-9G>C GRCh37: Chr6:34393817 GRCh38: Chr6:34426040	RPS10, RPS10-NUDT3		Diamond-Blackfan anemia 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9065717.	NM_001014.5(RPS10):c.168C>T (p.Gly56=) GRCh37: Chr6:34392600 GRCh38: Chr6:34424823	RPS10, RPS10-NUDT3		Diamond-Blackfan anemia 9	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 9065708.	NM_001014.5(RPS10):c.432T>G (p.Ala144=) GRCh37: Chr6:34386170 GRCh38: Chr6:34418393	RPS10, RPS10-NUDT3		Diamond-Blackfan anemia, Diamond-Blackfan anemia 9	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9049849.	NM_001014.5(RPS10):c.437C>T (p.Ser146Leu) GRCh37: Chr6:34386165 GRCh38: Chr6:34418388	RPS10, RPS10-NUDT3	S146L	Diamond-Blackfan anemia 9	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 85644410.	NM_001014.5(RPS10):c.40C>T (p.Leu14Phe) GRCh37: Chr6:34392959 GRCh38: Chr6:34425182	RPS10-NUDT3, RPS10	L14F	Diamond-Blackfan anemia, Diamond-Blackfan anemia 9	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 51658811.	NM_001014.5(RPS10):c.1-18A>G GRCh37: Chr6:34393016 GRCh38: Chr6:34425239	RPS10-NUDT3, RPS10		not specified, Diamond-Blackfan anemia 9	Likely benign (Oct 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 46337112.	NM_001014.5(RPS10):c.261G>A (p.Pro87=) GRCh37: Chr6:34392507 GRCh38: Chr6:34424730	RPS10-NUDT3, RPS10		not specified, Diamond-Blackfan anemia, Diamond-Blackfan anemia 9	Conflicting interpretations of pathogenicity (Oct 22, 2022)	criteria provided, conflicting interpretations
Select item 46337013.	NM_001014.5(RPS10):c.204C>T (p.Tyr68=) GRCh37: Chr6:34392564 GRCh38: Chr6:34424787	RPS10, RPS10-NUDT3		Diamond-Blackfan anemia, not specified, Diamond-Blackfan anemia 9	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35643114.	NM_001014.5(RPS10):c.-37C>T GRCh37: Chr6:34393845 GRCh38: Chr6:34426068	RPS10, RPS10-NUDT3		not specified, Diamond-Blackfan anemia 9	Benign (Jan 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 35642815.	NM_001014.5(RPS10):c.-29C>T GRCh37: Chr6:34393837 GRCh38: Chr6:34426060	RPS10, RPS10-NUDT3		Diamond-Blackfan anemia 9	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35642716.	NM_001014.5(RPS10):c.-21C>G GRCh37: Chr6:34393829 GRCh38: Chr6:34426052	RPS10, RPS10-NUDT3		Diamond-Blackfan anemia 9	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35642617.	NM_001014.5(RPS10):c.-14C>T GRCh37: Chr6:34393822 GRCh38: Chr6:34426045	RPS10, RPS10-NUDT3		Diamond-Blackfan anemia 9	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35642418.	NM_001014.5(RPS10):c.1-3C>G GRCh37: Chr6:34393001 GRCh38: Chr6:34425224	RPS10-NUDT3, RPS10		Diamond-Blackfan anemia 9	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35642319.	NM_001014.5(RPS10):c.6G>A (p.Leu2=) GRCh37: Chr6:34392993 GRCh38: Chr6:34425216	RPS10, RPS10-NUDT3		Diamond-Blackfan anemia, Diamond-Blackfan anemia 9	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35642220.	NM_001014.5(RPS10):c.71A>G (p.Lys24Arg) GRCh37: Chr6:34392928 GRCh38: Chr6:34425151	RPS10-NUDT3, RPS10	K24R	Inborn genetic diseases, Diamond-Blackfan anemia, Diamond-Blackfan anemia 9	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 35642121.	NM_001014.5(RPS10):c.111C>G (p.Asp37Glu) GRCh37: Chr6:34392888 GRCh38: Chr6:34425111	RPS10, RPS10-NUDT3	D37E	Diamond-Blackfan anemia, Diamond-Blackfan anemia 9	Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35642022.	NM_001014.5(RPS10):c.364G>A (p.Ala122Thr) GRCh37: Chr6:34389543 GRCh38: Chr6:34421766	RPS10, RPS10-NUDT3	A122T	Diamond-Blackfan anemia 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35641923.	NM_001014.5(RPS10):c.408C>T (p.Ala136=) GRCh37: Chr6:34386194 GRCh38: Chr6:34418417	RPS10-NUDT3, RPS10		not specified, not provided, Diamond-Blackfan anemia, Diamond-Blackfan anemia 9	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35641824.	NM_001014.5(RPS10):c.*25G>T GRCh37: Chr6:34385258 GRCh38: Chr6:34417481	RPS10, RPS10-NUDT3		Diamond-Blackfan anemia 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35641725.	NM_001014.5(RPS10):c.*43A>G GRCh37: Chr6:34385240 GRCh38: Chr6:34417463	RPS10, RPS10-NUDT3		Diamond-Blackfan anemia 9	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 23821126.	NM_001014.5(RPS10):c.231G>A (p.Gln77=) GRCh37: Chr6:34392537 GRCh38: Chr6:34424760	RPS10, RPS10-NUDT3		Diamond-Blackfan anemia 9, not specified, Diamond-Blackfan anemia	Benign/Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22546127.	NM_001014.5(RPS10):c.322+2_322+4dup GRCh37: Chr6:34392441-34392442 GRCh38: Chr6:34424664-34424665	RPS10, RPS10-NUDT3		Diamond-Blackfan anemia 9	Uncertain significance (Mar 18, 2016)	criteria provided, single submitter
Select item 618728.	NM_001014.5(RPS10):c.337C>T (p.Arg113Ter) GRCh37: Chr6:34389570 GRCh38: Chr6:34421793	RPS10-NUDT3, RPS10	R113*	Diamond-Blackfan anemia	Pathogenic (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 618629.	NM_001014.5(RPS10):c.260dup (p.Glu88fs) GRCh37: Chr6:34392507-34392508 GRCh38: Chr6:34424730-34424731	RPS10-NUDT3, RPS10	E88fs	Diamond-Blackfan anemia 9	Pathogenic (Feb 12, 2010)	no assertion criteria provided
Select item 618530.	NM_001014.5(RPS10):c.3G>A (p.Met1Ile) GRCh37: Chr6:34392996 GRCh38: Chr6:34425219	RPS10-NUDT3, RPS10	M1I	Diamond-Blackfan anemia 9	Pathogenic (Feb 12, 2010)	no assertion criteria provided

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Items: 30