ClinVar for MedGen (Select 387892) - ClinVar

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Items: 45

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25045861.	NM_033022.4(RPS24):c.273del (p.Ala92fs) GRCh37: Chr10:79795471 GRCh38: Chr10:78035713	RPS24	A92fs	Diamond-Blackfan anemia 3	Likely pathogenic (Jun 9, 2023)	criteria provided, single submitter
Select item 25000812.	NM_001142285.2(RPS24):c.484C>T (p.Arg162Trp) GRCh37: Chr10:79814382 GRCh38: Chr10:78054624	RPS24	R162W	Diamond-Blackfan anemia 3	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 24418803.	NM_001142285.2(RPS24):c.522del (p.Pro173_Trp174insTer) GRCh37: Chr10:79814419 GRCh38: Chr10:78054661	RPS24		Diamond-Blackfan anemia 3	Uncertain significance (Dec 20, 2022)	criteria provided, single submitter
Select item 24354804.	NM_033022.4(RPS24):c.149C>G (p.Thr50Ser) GRCh37: Chr10:79795348 GRCh38: Chr10:78035590	RPS24	T50S	Diamond-Blackfan anemia 3	Uncertain significance (Jan 24, 2023)	criteria provided, single submitter
Select item 16988295.	NM_033022.4(RPS24):c.3G>A (p.Met1Ile) GRCh37: Chr10:79793662 GRCh38: Chr10:78033904	RPS24	M1I	Diamond-Blackfan anemia 3	Uncertain significance (May 20, 2021)	criteria provided, single submitter
Select item 13279736.	NM_033022.4(RPS24):c.3+26C>T GRCh37: Chr10:79793688 GRCh38: Chr10:78033930	RPS24		Diamond-Blackfan anemia 3	Benign (Nov 7, 2021)	criteria provided, single submitter
Select item 13271067.	NM_001142285.2(RPS24):c.799C>G (p.Pro267Ala) GRCh37: Chr10:79814697 GRCh38: Chr10:78054939	RPS24	P267A	Diamond-Blackfan anemia 3	Uncertain significance (Apr 15, 2021)	criteria provided, single submitter
Select item 11647748.	NM_033022.4(RPS24):c.306C>T (p.Thr102=) GRCh37: Chr10:79796978 GRCh38: Chr10:78037220	RPS24		Congenital hypoplastic anemia, Diamond-Blackfan anemia 3	Benign/Likely benign (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11622579.	NM_033022.4(RPS24):c.157del (p.Asp53fs) GRCh37: Chr10:79795355 GRCh38: Chr10:78035597	RPS24	D53fs	Diamond-Blackfan anemia 3	Likely pathogenic	criteria provided, single submitter
Select item 104896810.	NM_001142285.2(RPS24):c.526G>A (p.Val176Met) GRCh37: Chr10:79814424 GRCh38: Chr10:78054666	RPS24	V176M	Diamond-Blackfan anemia 3	Uncertain significance (Nov 14, 2021)	criteria provided, single submitter
Select item 99829011.	NM_001142285.2(RPS24):c.811A>C (p.Ile271Leu) GRCh37: Chr10:79814709 GRCh38: Chr10:78054951	RPS24	I271L	Diamond-Blackfan anemia 3	Uncertain significance (Jan 20, 2019)	criteria provided, single submitter
Select item 99828912.	NM_001142285.2(RPS24):c.659C>T (p.Ala220Val) GRCh37: Chr10:79814557 GRCh38: Chr10:78054799	RPS24	A220V	Diamond-Blackfan anemia 3	Uncertain significance (Jun 20, 2020)	criteria provided, single submitter
Select item 99767513.	NM_001142285.2(RPS24):c.409G>A (p.Gly137Arg) GRCh37: Chr10:79814307 GRCh38: Chr10:78054549	RPS24	G137R	Diamond-Blackfan anemia 3	Uncertain significance (Dec 4, 2020)	criteria provided, single submitter
Select item 99756214.	NM_001142285.2(RPS24):c.439G>A (p.Glu147Lys) GRCh37: Chr10:79814337 GRCh38: Chr10:78054579	RPS24	E147K	Diamond-Blackfan anemia 3	Uncertain significance (Apr 10, 2020)	criteria provided, single submitter
Select item 97366815.	NM_001142285.2(RPS24):c.828C>A (p.Ser276Arg) GRCh37: Chr10:79814726 GRCh38: Chr10:78054968	RPS24	S276R	Diamond-Blackfan anemia 3	Likely benign (May 21, 2020)	no assertion criteria provided
Select item 87847716.	NM_033022.4(RPS24):c.4-7T>C GRCh37: Chr10:79795103 GRCh38: Chr10:78035345	RPS24		Diamond-Blackfan anemia 3	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87847617.	NM_033022.4(RPS24):c.3+15G>A GRCh37: Chr10:79793677 GRCh38: Chr10:78033919	RPS24		Diamond-Blackfan anemia 3	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87745518.	NM_033022.4(RPS24):c.-7C>A GRCh37: Chr10:79793653 GRCh38: Chr10:78033895	RPS24		Diamond-Blackfan anemia 3	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87745419.	NM_033022.4(RPS24):c.-23C>T GRCh37: Chr10:79793637 GRCh38: Chr10:78033879	RPS24		Diamond-Blackfan anemia 3	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87745320.	NM_033022.4(RPS24):c.-32C>T GRCh37: Chr10:79793628 GRCh38: Chr10:78033870	RPS24		Diamond-Blackfan anemia 3	Benign (Jan 15, 2018)	criteria provided, single submitter
Select item 87745221.	NM_033022.4(RPS24):c.-37C>T GRCh37: Chr10:79793623 GRCh38: Chr10:78033865	RPS24		Diamond-Blackfan anemia 3	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 87745122.	NM_033022.3(RPS24):c.-47T>G GRCh37: Chr10:79793613 GRCh38: Chr10:78033855	RPS24		Diamond-Blackfan anemia 3	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 69630123.	NM_033022.4(RPS24):c.3+7C>T GRCh37: Chr10:79793669 GRCh38: Chr10:78033911	RPS24		Diamond-Blackfan anemia 3, Congenital hypoplastic anemia	Conflicting interpretations of pathogenicity (Sep 16, 2022)	criteria provided, conflicting interpretations
Select item 69542824.	NM_033022.4(RPS24):c.378T>G (p.Gly126=) GRCh37: Chr10:79797050 GRCh38: Chr10:78037292	RPS24		Diamond-Blackfan anemia 3, Congenital hypoplastic anemia	Benign/Likely benign (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66530925.	NM_033022.4(RPS24):c.91G>A (p.Gly31Arg) GRCh37: Chr10:79795290 GRCh38: Chr10:78035532	RPS24	G31R	Congenital hypoplastic anemia, Diamond-Blackfan anemia 3	Uncertain significance (Dec 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 54976426.	NM_033022.4(RPS24):c.148A>C (p.Thr50Pro) GRCh37: Chr10:79795347 GRCh38: Chr10:78035589	RPS24	T50P	Diamond-Blackfan anemia 3	Pathogenic (Feb 6, 2018)	criteria provided, single submitter
Select item 43655627.	NM_033022.4(RPS24):c.*11G>A GRCh37: Chr10:79799975 GRCh38: Chr10:78040217	RPS24		not specified, not provided, Diamond-Blackfan anemia 3	Likely benign (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41612828.	NM_033022.4(RPS24):c.363A>G (p.Ala121=) GRCh37: Chr10:79797035 GRCh38: Chr10:78037277	RPS24		Diamond-Blackfan anemia 3, Congenital hypoplastic anemia	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30109929.	NM_033022.4(RPS24):c.*99T>C GRCh37: Chr10:79800452 GRCh38: Chr10:78040694	RPS24		Diamond-Blackfan anemia 3	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30109830.	NM_033022.4(RPS24):c.*21C>T GRCh37: Chr10:79800374 GRCh38: Chr10:78040616	RPS24	P131L	Diamond-Blackfan anemia 3	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30109731.	NM_033022.4(RPS24):c.391-3C>A GRCh37: Chr10:79799959 GRCh38: Chr10:78040201	RPS24		Diamond-Blackfan anemia 3, not specified, Congenital hypoplastic anemia	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30109632.	NM_033022.4(RPS24):c.333G>A (p.Lys111=) GRCh37: Chr10:79797005 GRCh38: Chr10:78037247	RPS24		Diamond-Blackfan anemia 3, Congenital hypoplastic anemia	Likely benign (Oct 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30109433.	NM_033022.4(RPS24):c.235C>T (p.Leu79=) GRCh37: Chr10:79795434 GRCh38: Chr10:78035676	RPS24		Diamond-Blackfan anemia 3, Congenital hypoplastic anemia, not specified	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30109334.	NM_033022.4(RPS24):c.177A>G (p.Gly59=) GRCh37: Chr10:79795376 GRCh38: Chr10:78035618	RPS24		Diamond-Blackfan anemia 3, not provided, Congenital hypoplastic anemia	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30109235.	NM_033022.4(RPS24):c.168T>C (p.Phe56=) GRCh37: Chr10:79795367 GRCh38: Chr10:78035609	RPS24		Congenital hypoplastic anemia, Diamond-Blackfan anemia 3, not specified	Benign/Likely benign (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30109136.	NM_033022.4(RPS24):c.-8T>G GRCh37: Chr10:79793652 GRCh38: Chr10:78033894	POLR3A, RPS24		not specified, Pol III-related leukodystrophy, Diamond-Blackfan anemia 3, Congenital hypoplastic anemia, not provided	Benign/Likely benign (Mar 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30109037.	NM_033022.4(RPS24):c.-36T>G GRCh37: Chr10:79793624 GRCh38: Chr10:78033866	RPS24		Diamond-Blackfan anemia 3	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30108938.	NM_033022.3(RPS24):c.-50G>A GRCh37: Chr10:79793610 GRCh38: Chr10:78033852	RPS24		not specified, Diamond-Blackfan anemia 3	Likely benign (Feb 5, 2018)	criteria provided, multiple submitters, no conflicts
Select item 30108839.	NM_033022.3(RPS24):c.-109A>G GRCh37: Chr10:79793551 GRCh38: Chr10:78033793	POLR3A, RPS24		Diamond-Blackfan anemia 3, Pol III-related leukodystrophy, Congenital hypoplastic anemia	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30108740.	NM_033022.3(RPS24):c.-142A>G GRCh37: Chr10:79793518 GRCh38: Chr10:78033760	RPS24		Diamond-Blackfan anemia 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 24172841.	NM_033022.4(RPS24):c.371A>G (p.Asn124Ser) GRCh37: Chr10:79797043 GRCh38: Chr10:78037285	RPS24	N124S	not specified, Diamond-Blackfan anemia 3, Congenital hypoplastic anemia	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8897742.	NM_007055.3(POLR3A):c.-6128_-995del GRCh37: Chr10:79790160-79795293 GRCh38: Chr10:78030402-78035535	RPS24		Diamond-Blackfan anemia 3	Pathogenic (Nov 1, 2013)	no assertion criteria provided
Select item 724743.	NM_033022.4(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer) GRCh37: Chr10:79795110-79795112 GRCh38: Chr10:78035352-78035354	RPS24		Diamond-Blackfan anemia 3	Pathogenic (Dec 1, 2006)	no assertion criteria provided
Select item 724644.	NM_033022.4(RPS24):c.46C>T (p.Arg16Ter) GRCh37: Chr10:79795152 GRCh38: Chr10:78035394	RPS24	R16*	Congenital hypoplastic anemia	Pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 724545.	NM_033022.4(RPS24):c.316C>T (p.Gln106Ter) GRCh37: Chr10:79796988 GRCh38: Chr10:78037230	RPS24	Q106*	Diamond-Blackfan anemia 3	Pathogenic (Dec 1, 2006)	no assertion criteria provided

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Items: 45