ClinVar for MedGen (Select 899109) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17043761.	NM_017875.4(SLC25A38):c.85A>G (p.Lys29Glu) GRCh37: Chr3:39431001 GRCh38: Chr3:39389510	SLC25A38	K29E	Sideroblastic anemia 2	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 12921522.	NM_017875.4(SLC25A38):c.626-36G>C GRCh37: Chr3:39435865 GRCh38: Chr3:39394374	SLC25A38		Sideroblastic anemia 2, not provided	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12920853.	NM_017875.4(SLC25A38):c.456+36G>A GRCh37: Chr3:39433147 GRCh38: Chr3:39391656	SLC25A38		Sideroblastic anemia 2, not provided	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11725114.	NM_017875.4(SLC25A38):c.626-2A>T GRCh37: Chr3:39435899 GRCh38: Chr3:39394408	SLC25A38		Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 11725105.	NM_017875.4(SLC25A38):c.562G>C (p.Asp188His) GRCh37: Chr3:39433449 GRCh38: Chr3:39391958	SLC25A38	D188H	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 11725096.	NM_017875.4(SLC25A38):c.409dup (p.Ala137fs) GRCh37: Chr3:39433063-39433064 GRCh38: Chr3:39391572-39391573	SLC25A38	A137fs	Sideroblastic anemia 2, not provided	Pathogenic (May 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11725087.	NM_017875.4(SLC25A38):c.587T>C (p.Leu196Pro) GRCh37: Chr3:39433474 GRCh38: Chr3:39391983	SLC25A38	L196P	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 11725078.	NM_017875.4(SLC25A38):c.440T>A (p.Ile147Asn) GRCh37: Chr3:39433095 GRCh38: Chr3:39391604	SLC25A38	I147N	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 11725069.	NM_017875.4(SLC25A38):c.166C>A (p.Gln56Lys) GRCh37: Chr3:39431082 GRCh38: Chr3:39389591	SLC25A38	Q56K	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117250510.	NM_017875.4(SLC25A38):c.879T>G (p.Tyr293Ter) GRCh37: Chr3:39437975 GRCh38: Chr3:39396484	SLC25A38	Y293*	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117250411.	NM_017875.4(SLC25A38):c.276+1G>T GRCh37: Chr3:39431999 GRCh38: Chr3:39390508	SLC25A38		Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117250312.	NM_017875.4(SLC25A38):c.227_236del (p.Lys76fs) GRCh37: Chr3:39431949-39431958 GRCh38: Chr3:39390458-39390467	SLC25A38	K76fs	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117250213.	NM_017875.4(SLC25A38):c.858del (p.Ala287fs) GRCh37: Chr3:39437954 GRCh38: Chr3:39396463	SLC25A38	A287fs, S231fs	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117250114.	NM_017875.4(SLC25A38):c.324_330del (p.Leu108_Tyr109insTer) GRCh37: Chr3:39432974-39432980 GRCh38: Chr3:39391483-39391489	SLC25A38		Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117250015.	NM_017875.4(SLC25A38):c.429_431delinsAG (p.Ile144fs) GRCh37: Chr3:39433084-39433086 GRCh38: Chr3:39391593-39391595	SLC25A38	I144fs	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117249916.	NM_017875.4(SLC25A38):c.260G>A (p.Trp87Ter) GRCh37: Chr3:39431982 GRCh38: Chr3:39390491	SLC25A38	W87*	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117249817.	NM_017875.4(SLC25A38):c.689T>C (p.Leu230Pro) GRCh37: Chr3:39435964 GRCh38: Chr3:39394473	SLC25A38	L230P	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117249718.	NM_017875.4(SLC25A38):c.469G>C (p.Gly157Arg) GRCh37: Chr3:39433356 GRCh38: Chr3:39391865	SLC25A38	G157R	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117249619.	NM_017875.4(SLC25A38):c.281T>A (p.Ile94Asn) GRCh37: Chr3:39432936 GRCh38: Chr3:39391445	SLC25A38	I94N	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117249520.	NM_017875.4(SLC25A38):c.683G>T (p.Gly228Val) GRCh37: Chr3:39435958 GRCh38: Chr3:39394467	SLC25A38	G228V	not provided, Sideroblastic anemia 2	Conflicting interpretations of pathogenicity (Mar 29, 2022)	criteria provided, conflicting interpretations
Select item 117249421.	NM_017875.4(SLC25A38):c.832C>G (p.Arg278Gly) GRCh37: Chr3:39437928 GRCh38: Chr3:39396437	SLC25A38	P222R, R278G	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117249322.	NM_017875.4(SLC25A38):c.569C>G (p.Pro190Arg) GRCh37: Chr3:39433456 GRCh38: Chr3:39391965	SLC25A38	P190R	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117249223.	NM_017875.4(SLC25A38):c.389G>A (p.Gly130Glu) GRCh37: Chr3:39433044 GRCh38: Chr3:39391553	SLC25A38	G130E	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117249124.	NM_017875.4(SLC25A38):c.336_346del (p.Lys112fs) GRCh37: Chr3:39432991-39433001 GRCh38: Chr3:39391500-39391510	SLC25A38	K112fs	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117249025.	NM_017875.4(SLC25A38):c.832C>T (p.Arg278Ter) GRCh37: Chr3:39437928 GRCh38: Chr3:39396437	SLC25A38	P222L, R278*	Sideroblastic anemia 2	Pathogenic (Mar 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117248926.	NM_017875.4(SLC25A38):c.175C>T (p.Gln59Ter) GRCh37: Chr3:39431091 GRCh38: Chr3:39389600	SLC25A38	Q59*	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117248827.	NM_017875.4(SLC25A38):c.401G>A (p.Arg134His) GRCh37: Chr3:39433056 GRCh38: Chr3:39391565	SLC25A38	R134H	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117248728.	NM_017875.4(SLC25A38):c.672delinsTT (p.Ile225fs) GRCh37: Chr3:39435947 GRCh38: Chr3:39394456	SLC25A38	I225fs	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117248629.	NM_017875.4(SLC25A38):c.560G>A (p.Arg187Gln) GRCh37: Chr3:39433447 GRCh38: Chr3:39391956	SLC25A38	R187Q	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117248530.	NM_017875.4(SLC25A38):c.480dup (p.Ile161fs) GRCh37: Chr3:39433366-39433367 GRCh38: Chr3:39391875-39391876	SLC25A38	I161fs	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117248431.	NM_017875.4(SLC25A38):c.913T>C (p.Ter305Arg) GRCh37: Chr3:39438009 GRCh38: Chr3:39396518	SLC25A38		Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117248332.	NM_017875.4(SLC25A38):c.305G>A (p.Gly102Glu) GRCh37: Chr3:39432960 GRCh38: Chr3:39391469	SLC25A38	G102E	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117248233.	NM_017875.4(SLC25A38):c.809dup (p.Phe271fs) GRCh37: Chr3:39437903-39437904 GRCh38: Chr3:39396412-39396413	SLC25A38	F271fs, L215fs	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117248134.	NM_017875.4(SLC25A38):c.792+5G>C GRCh37: Chr3:39436072 GRCh38: Chr3:39394581	SLC25A38		Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117248035.	NM_017875.4(SLC25A38):c.669_682del (p.Cys223fs) GRCh37: Chr3:39435940-39435953 GRCh38: Chr3:39394449-39394462	SLC25A38	C223fs	Sideroblastic anemia 2, not provided	Conflicting interpretations of pathogenicity (Sep 1, 2021)	criteria provided, conflicting interpretations
Select item 117247936.	NM_017875.4(SLC25A38):c.475del (p.Glu159fs) GRCh37: Chr3:39433362 GRCh38: Chr3:39391871	SLC25A38	E159fs	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117247837.	NM_017875.4(SLC25A38):c.457-1G>T GRCh37: Chr3:39433343 GRCh38: Chr3:39391852	SLC25A38		Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117247738.	NM_017875.4(SLC25A38):c.388G>A (p.Gly130Arg) GRCh37: Chr3:39433043 GRCh38: Chr3:39391552	SLC25A38	G130R	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117247639.	NM_017875.4(SLC25A38):c.362del (p.Pro121fs) GRCh37: Chr3:39433013 GRCh38: Chr3:39391522	SLC25A38	P121fs	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117247540.	NM_017875.4(SLC25A38):c.277-2A>C GRCh37: Chr3:39432930 GRCh38: Chr3:39391439	SLC25A38		Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117247441.	NM_017875.4(SLC25A38):c.276+1G>A GRCh37: Chr3:39431999 GRCh38: Chr3:39390508	SLC25A38		Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 117247342.	NM_017875.4(SLC25A38):c.207_214del (p.Met70fs) GRCh37: Chr3:39431923-39431930 GRCh38: Chr3:39390432-39390439	SLC25A38	M70fs	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 90363143.	NM_017875.4(SLC25A38):c.*718G>A GRCh37: Chr3:39438729 GRCh38: Chr3:39397238	SLC25A38		Sideroblastic anemia 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90363044.	NM_017875.4(SLC25A38):c.*549G>A GRCh37: Chr3:39438560 GRCh38: Chr3:39397069	SLC25A38		Sideroblastic anemia 2	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90362945.	NM_017875.4(SLC25A38):c.*548G>A GRCh37: Chr3:39438559 GRCh38: Chr3:39397068	SLC25A38		Sideroblastic anemia 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90362846.	NM_017875.4(SLC25A38):c.*547C>T GRCh37: Chr3:39438558 GRCh38: Chr3:39397067	SLC25A38		Sideroblastic anemia 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90356547.	NM_017875.4(SLC25A38):c.199C>T (p.Arg67Cys) GRCh37: Chr3:39431921 GRCh38: Chr3:39390430	SLC25A38	R67C	not provided, Inborn genetic diseases, Sideroblastic anemia 2	Uncertain significance (Jul 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90356448.	NM_017875.4(SLC25A38):c.-15C>A GRCh37: Chr3:39425201 GRCh38: Chr3:39383710	LOC129936510, SLC25A38		Sideroblastic anemia 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90168049.	NM_017875.4(SLC25A38):c.*395G>A GRCh37: Chr3:39438406 GRCh38: Chr3:39396915	SLC25A38		Sideroblastic anemia 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90167950.	NM_017875.4(SLC25A38):c.*381G>C GRCh37: Chr3:39438392 GRCh38: Chr3:39396901	SLC25A38		Sideroblastic anemia 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90167851.	NM_017875.4(SLC25A38):c.*305G>A GRCh37: Chr3:39438316 GRCh38: Chr3:39396825	SLC25A38		Sideroblastic anemia 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90161652.	NM_017875.4(SLC25A38):c.-39G>C GRCh37: Chr3:39425177 GRCh38: Chr3:39383686	SLC25A38, LOC129936510		Sideroblastic anemia 2	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 90114453.	NM_017875.4(SLC25A38):c.*212T>G GRCh37: Chr3:39438223 GRCh38: Chr3:39396732	SLC25A38		not provided, Sideroblastic anemia 2	Benign (Jul 9, 2018)	criteria provided, multiple submitters, no conflicts
Select item 90114354.	NM_017875.4(SLC25A38):c.780A>G (p.Thr260=) GRCh37: Chr3:39436055 GRCh38: Chr3:39394564	SLC25A38		Sideroblastic anemia 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90114255.	NM_017875.4(SLC25A38):c.626-5T>C GRCh37: Chr3:39435896 GRCh38: Chr3:39394405	SLC25A38		Sideroblastic anemia 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90114156.	NM_017875.4(SLC25A38):c.625G>A (p.Asp209Asn) GRCh37: Chr3:39433512 GRCh38: Chr3:39392021	SLC25A38	D209N, G209R	Sideroblastic anemia 2	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 90114057.	NM_017875.4(SLC25A38):c.528C>A (p.Gly176=) GRCh37: Chr3:39433415 GRCh38: Chr3:39391924	SLC25A38		Sideroblastic anemia 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90107058.	NM_017875.4(SLC25A38):c.-273G>A GRCh37: Chr3:39424943 GRCh38: Chr3:39383452	SLC25A38		not provided, Sideroblastic anemia 2	Likely benign (Jul 9, 2018)	criteria provided, multiple submitters, no conflicts
Select item 89996359.	NM_017875.4(SLC25A38):c.456+10A>G GRCh37: Chr3:39433121 GRCh38: Chr3:39391630	SLC25A38		not provided, Sideroblastic anemia 2	Conflicting interpretations of pathogenicity (Jul 3, 2022)	criteria provided, conflicting interpretations
Select item 89996260.	NM_017875.4(SLC25A38):c.302T>C (p.Val101Ala) GRCh37: Chr3:39432957 GRCh38: Chr3:39391466	SLC25A38	V101A	Sideroblastic anemia 2, not provided	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89996161.	NM_017875.4(SLC25A38):c.280A>G (p.Ile94Val) GRCh37: Chr3:39432935 GRCh38: Chr3:39391444	SLC25A38	I94V	Sideroblastic anemia 2	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 80443562.	NM_017875.4(SLC25A38):c.671_672insT (p.Ile225fs) GRCh37: Chr3:39435946-39435947 GRCh38: Chr3:39394455-39394456	SLC25A38	I225fs	Sideroblastic anemia 2	Likely pathogenic (Jun 20, 2019)	criteria provided, single submitter
Select item 77796463.	NM_017875.4(SLC25A38):c.11A>G (p.Asn4Ser) GRCh37: Chr3:39425226 GRCh38: Chr3:39383735	LOC129936510, SLC25A38	N4S	not provided, Sideroblastic anemia 2	Conflicting interpretations of pathogenicity (Jun 1, 2023)	criteria provided, conflicting interpretations
Select item 63192064.	NM_017875.4(SLC25A38):c.625G>C (p.Asp209His) GRCh37: Chr3:39433512 GRCh38: Chr3:39392021	SLC25A38	D209H, G209R	Sideroblastic anemia 2	Pathogenic/Likely pathogenic (Jun 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63191965.	NM_017875.4(SLC25A38):c.400C>T (p.Arg134Cys) GRCh37: Chr3:39433055 GRCh38: Chr3:39391564	SLC25A38	R134C	Sideroblastic anemia 2	Conflicting interpretations of pathogenicity (Jun 1, 2021)	criteria provided, conflicting interpretations
Select item 56110866.	NM_017875.4(SLC25A38):c.70-2A>C GRCh37: Chr3:39430984 GRCh38: Chr3:39389493	SLC25A38		Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 50683367.	NM_017875.4(SLC25A38):c.486C>T (p.Tyr162=) GRCh37: Chr3:39433373 GRCh38: Chr3:39391882	SLC25A38		Sideroblastic anemia 2, not specified, not provided	Conflicting interpretations of pathogenicity (Oct 14, 2022)	criteria provided, conflicting interpretations
Select item 38303168.	NM_017875.4(SLC25A38):c.196A>G (p.Arg66Gly) GRCh37: Chr3:39431918 GRCh38: Chr3:39390427	SLC25A38	R66G	not provided, Sideroblastic anemia 2	Benign/Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38204369.	NM_017875.4(SLC25A38):c.525G>C (p.Arg175=) GRCh37: Chr3:39433412 GRCh38: Chr3:39391921	SLC25A38		Sideroblastic anemia 2, not provided	Conflicting interpretations of pathogenicity (May 1, 2023)	criteria provided, conflicting interpretations
Select item 34515970.	NM_017875.4(SLC25A38):c.*588T>A GRCh37: Chr3:39438599 GRCh38: Chr3:39397108	SLC25A38		not provided, Sideroblastic anemia 2, Refractory anemia with ringed sideroblasts (clinical)	Benign/Likely benign (May 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34515871.	NM_017875.4(SLC25A38):c.*490G>A GRCh37: Chr3:39438501 GRCh38: Chr3:39397010	SLC25A38		X-linked sideroblastic anemia 1, Sideroblastic anemia 2	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 34515772.	NM_017875.4(SLC25A38):c.*472G>T GRCh37: Chr3:39438483 GRCh38: Chr3:39396992	SLC25A38		X-linked sideroblastic anemia 1, not provided, Sideroblastic anemia 2	Benign/Likely benign (May 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34515673.	NM_017875.4(SLC25A38):c.*431G>A GRCh37: Chr3:39438442 GRCh38: Chr3:39396951	SLC25A38		not provided, Sideroblastic anemia 2, Refractory anemia with ringed sideroblasts (clinical)	Conflicting interpretations of pathogenicity (May 24, 2021)	criteria provided, conflicting interpretations
Select item 34515574.	NM_017875.4(SLC25A38):c.*404G>A GRCh37: Chr3:39438415 GRCh38: Chr3:39396924	SLC25A38		Sideroblastic anemia 2, Refractory anemia with ringed sideroblasts (clinical)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34515475.	NM_017875.4(SLC25A38):c.*370C>T GRCh37: Chr3:39438381 GRCh38: Chr3:39396890	SLC25A38		Sideroblastic anemia 2, Refractory anemia with ringed sideroblasts (clinical)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34515376.	NM_017875.4(SLC25A38):c.*310A>T GRCh37: Chr3:39438321 GRCh38: Chr3:39396830	SLC25A38		not provided, Sideroblastic anemia 2, Refractory anemia with ringed sideroblasts (clinical)	Benign (Jun 14, 2018)	criteria provided, multiple submitters, no conflicts
Select item 34515277.	NM_017875.4(SLC25A38):c.*304C>T GRCh37: Chr3:39438315 GRCh38: Chr3:39396824	SLC25A38		Sideroblastic anemia 2, X-linked sideroblastic anemia 1	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 34515178.	NM_017875.4(SLC25A38):c.652A>T (p.Ile218Phe) GRCh37: Chr3:39435927 GRCh38: Chr3:39394436	SLC25A38	I218F	not provided, Sideroblastic anemia 2, Refractory anemia with ringed sideroblasts (clinical)	Uncertain significance (Jun 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34515079.	NM_017875.4(SLC25A38):c.570C>A (p.Pro190=) GRCh37: Chr3:39433457 GRCh38: Chr3:39391966	SLC25A38		Sideroblastic anemia 2, Refractory anemia with ringed sideroblasts (clinical)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34514980.	NM_017875.4(SLC25A38):c.462G>A (p.Gly154=) GRCh37: Chr3:39433349 GRCh38: Chr3:39391858	SLC25A38		not provided, Sideroblastic anemia 2, X-linked sideroblastic anemia 1	Conflicting interpretations of pathogenicity (Oct 4, 2021)	criteria provided, conflicting interpretations
Select item 34514881.	NM_017875.4(SLC25A38):c.446C>T (p.Thr149Met) GRCh37: Chr3:39433101 GRCh38: Chr3:39391610	SLC25A38	T149M	X-linked sideroblastic anemia 1, Sideroblastic anemia 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34514782.	NM_017875.4(SLC25A38):c.382A>G (p.Met128Val) GRCh37: Chr3:39433037 GRCh38: Chr3:39391546	SLC25A38	M128V	Sideroblastic anemia 2, not specified, not provided, X-linked sideroblastic anemia 1	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34514683.	NM_017875.4(SLC25A38):c.288A>G (p.Arg96=) GRCh37: Chr3:39432943 GRCh38: Chr3:39391452	SLC25A38		not provided, Sideroblastic anemia 2, Refractory anemia with ringed sideroblasts (clinical)	Uncertain significance (Oct 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34514584.	NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg) GRCh37: Chr3:39431961 GRCh38: Chr3:39390470	SLC25A38	T80R	Inborn genetic diseases, not specified, Sideroblastic anemia 2, not provided, X-linked sideroblastic anemia 1	Conflicting interpretations of pathogenicity (Oct 1, 2023)	criteria provided, conflicting interpretations
Select item 34514485.	NM_017875.4(SLC25A38):c.161G>A (p.Arg54His) GRCh37: Chr3:39431077 GRCh38: Chr3:39389586	SLC25A38	R54H	not provided, Sideroblastic anemia 2, X-linked sideroblastic anemia 1	Uncertain significance (Jul 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34514386.	NM_017875.4(SLC25A38):c.12C>T (p.Asn4=) GRCh37: Chr3:39425227 GRCh38: Chr3:39383736	LOC129936510, SLC25A38		not provided, Sideroblastic anemia 2, X-linked sideroblastic anemia 1	Conflicting interpretations of pathogenicity (Nov 2, 2022)	criteria provided, conflicting interpretations
Select item 34514287.	NM_017875.4(SLC25A38):c.-69C>T GRCh37: Chr3:39425147 GRCh38: Chr3:39383656	SLC25A38		Sideroblastic anemia 2, X-linked sideroblastic anemia 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34514188.	NM_017875.4(SLC25A38):c.-161G>A GRCh37: Chr3:39425055 GRCh38: Chr3:39383564	SLC25A38		Sideroblastic anemia 2, Refractory anemia with ringed sideroblasts (clinical)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34514089.	NM_017875.4(SLC25A38):c.-209A>G GRCh37: Chr3:39425007 GRCh38: Chr3:39383516	SLC25A38		Sideroblastic anemia 2, not provided, Refractory anemia with ringed sideroblasts (clinical)	Benign/Likely benign (Jun 28, 2018)	criteria provided, multiple submitters, no conflicts
Select item 34513990.	NM_017875.4(SLC25A38):c.-219T>C GRCh37: Chr3:39424997 GRCh38: Chr3:39383506	SLC25A38		X-linked sideroblastic anemia 1, Sideroblastic anemia 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34513891.	NM_017875.4(SLC25A38):c.-225G>A GRCh37: Chr3:39424991 GRCh38: Chr3:39383500	SLC25A38		X-linked sideroblastic anemia 1, Sideroblastic anemia 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34513792.	NM_017875.4(SLC25A38):c.-227G>A GRCh37: Chr3:39424989 GRCh38: Chr3:39383498	SLC25A38		X-linked sideroblastic anemia 1, Sideroblastic anemia 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34513693.	NM_017875.4(SLC25A38):c.-237G>A GRCh37: Chr3:39424979 GRCh38: Chr3:39383488	SLC25A38		Sideroblastic anemia 2, X-linked sideroblastic anemia 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34513594.	NM_017875.4(SLC25A38):c.-292G>A GRCh37: Chr3:39424924 GRCh38: Chr3:39383433	SLC25A38		not provided, Sideroblastic anemia 2, X-linked sideroblastic anemia 1	Conflicting interpretations of pathogenicity (Jul 7, 2018)	criteria provided, conflicting interpretations
Select item 34513495.	NM_017875.4(SLC25A38):c.-303A>C GRCh37: Chr3:39424913 GRCh38: Chr3:39383422	SLC25A38		X-linked sideroblastic anemia 1, Sideroblastic anemia 2, not provided	Benign/Likely benign (Jun 28, 2018)	criteria provided, multiple submitters, no conflicts
Select item 34513396.	NM_017875.4(SLC25A38):c.-325G>C GRCh37: Chr3:39424891 GRCh38: Chr3:39383400	SLC25A38		Sideroblastic anemia 2, X-linked sideroblastic anemia 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 28168097.	NM_017875.4(SLC25A38):c.165G>A (p.Leu55=) GRCh37: Chr3:39431081 GRCh38: Chr3:39389590	SLC25A38		not specified, Refractory anemia with ringed sideroblasts (clinical), not provided, Sideroblastic anemia 2	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 112298.	NM_017875.4(SLC25A38):c.790A>T (p.Lys264Ter) GRCh37: Chr3:39436065 GRCh38: Chr3:39394574	SLC25A38	K264*	Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 112199.	NM_017875.4(SLC25A38):c.277-1G>A GRCh37: Chr3:39432931 GRCh38: Chr3:39391440	SLC25A38		Sideroblastic anemia 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 1120100.	NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro) GRCh37: Chr3:39433447 GRCh38: Chr3:39391956	SLC25A38	R187P	not provided, Sideroblastic anemia 2	Conflicting interpretations of pathogenicity (Aug 21, 2022)	criteria provided, conflicting interpretations

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