ClinVar for MedGen (Select 266045) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24476211.	NM_001014.5(RPS10):c.288T>G (p.Arg96=) GRCh37: Chr6:34392480 GRCh38: Chr6:34424703	RPS10, RPS10-NUDT3		Diamond-Blackfan anemia	Likely benign (Nov 10, 2022)	criteria provided, single submitter
Select item 24267612.	NM_000969.5(RPL5):c.335G>A (p.Arg112Lys) GRCh37: Chr1:93301757 GRCh38: Chr1:92836200	DIPK1A, RPL5	R112K	Diamond-Blackfan anemia	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 24243483.	NC_000023.10:g.(?_48542243)_(48652571_?)del GRCh37: ChrX:48542243-48652571	GLOD5, GATA1, SUV39H1, WAS		GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia	Pathogenic (Jul 25, 2022)	criteria provided, single submitter
Select item 24243474.	NC_000023.10:g.(?_48649517)_(48652571_?)dup GRCh37: ChrX:48649517-48652571	GATA1		GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 24234815.	NC_000019.9:g.(?_42363988)_(42364925_?)del GRCh37: Chr19:42363988-42364925	RPS19		Diamond-Blackfan anemia	Pathogenic (Oct 25, 2021)	criteria provided, single submitter
Select item 24234446.	NC_000001.10:g.(?_24021140)_(24022863_?)del GRCh37: Chr1:24021140-24022863	RPL11		Diamond-Blackfan anemia	Pathogenic (Oct 23, 2021)	criteria provided, single submitter
Select item 24233507.	NC_000019.9:g.(?_39904727)_(42931301_?)dup GRCh37: Chr19:39904727-42931301	DMAC2, GSK3A, EID2B, HIPK4, HNRNPUL1, DYRK1B, EGLN2, EID2, DMRTC2, CD79A, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CIC, CLC, CNFN, COQ8B, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, DEDD2, DLL3, ERF, ERICH4, EXOSC5, FBL, FCGBP, GRIK5, ITPKC, LEUTX, LGALS13, LGALS14, LGALS16, LIPE, LOC100507646, LTBP4, LYPD4, MAP3K10, MEGF8, MIA, NUMBL, PAFAH1B3, PLD3, PLEKHG2, POU2F2, PRR19, PRX, PSMC4, RAB4B, RABAC1, RPS16, RPS19, SELENOV, SERTAD1, SERTAD3, SHKBP1, SNRPA, SPTBN4, SUPT5H, TGFB1, TIMM50, TMEM145, TMEM91, TTC9B, ZNF526, ZNF546, ZNF574, ZNF780A, ZNF780B, ACTMAP, AKT2, ARHGEF1, ATP1A3, AXL, B3GNT8, B9D2, BCKDHA, BLVRB, C19orf47, CCDC97, CCNP		Maple syrup urine disease, TWIST1-related craniosynostosis, MEGF8-related Carpenter syndrome, Diamond-Blackfan anemia	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 24215268.	NM_000987.5(RPL26):c.276C>A (p.Gly92=) GRCh37: Chr17:8283147 GRCh38: Chr17:8379829	RPL26		Diamond-Blackfan anemia	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 24209679.	NM_000969.5(RPL5):c.567A>C (p.Glu189Asp) GRCh37: Chr1:93303052 GRCh38: Chr1:92837495	DIPK1A, RPL5	E189D	Diamond-Blackfan anemia	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 241883410.	NM_033022.4(RPS24):c.4-3C>T GRCh37: Chr10:79795107 GRCh38: Chr10:78035349	RPS24		Diamond-Blackfan anemia	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 241681511.	NM_002049.4(GATA1):c.1005G>A (p.Met335Ile) GRCh37: ChrX:48652334 GRCh38: ChrX:48793927	GATA1	M335I	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 241537912.	NM_001014.5(RPS10):c.26T>C (p.Ile9Thr) GRCh37: Chr6:34392973 GRCh38: Chr6:34425196	RPS10, RPS10-NUDT3	I9T	Diamond-Blackfan anemia	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 241533913.	NM_000975.5(RPL11):c.426A>G (p.Ala142=) GRCh37: Chr1:24022317 GRCh38: Chr1:23695827	RPL11		Diamond-Blackfan anemia	Likely benign (Dec 25, 2021)	criteria provided, single submitter
Select item 220303114.	NM_000975.5(RPL11):c.6+18G>A GRCh37: Chr1:24018337 GRCh38: Chr1:23691847	RPL11		Diamond-Blackfan anemia	Benign (Jan 5, 2022)	criteria provided, single submitter
Select item 220302115.	NM_000969.5(RPL5):c.566A>G (p.Glu189Gly) GRCh37: Chr1:93303051 GRCh38: Chr1:92837494	DIPK1A, RPL5	E189G	Diamond-Blackfan anemia	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 220277716.	NM_000969.5(RPL5):c.173del (p.Arg58fs) GRCh37: Chr1:93299201 GRCh38: Chr1:92833644	DIPK1A, RPL5	R58fs	Diamond-Blackfan anemia	Pathogenic (Apr 11, 2022)	criteria provided, single submitter
Select item 220277617.	NM_000969.5(RPL5):c.2T>G (p.Met1Arg) GRCh37: Chr1:93297673 GRCh38: Chr1:92832116	RPL5	M1R	Diamond-Blackfan anemia	Pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 220260818.	NM_002049.4(GATA1):c.971C>T (p.Thr324Ile) GRCh37: ChrX:48652300 GRCh38: ChrX:48793893	GATA1	T324I	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia	Uncertain significance (Sep 30, 2022)	criteria provided, single submitter
Select item 220256419.	NM_000969.5(RPL5):c.779A>C (p.Glu260Ala) GRCh37: Chr1:93306181 GRCh38: Chr1:92840624	DIPK1A, RPL5	E260A	Diamond-Blackfan anemia	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 220140420.	NM_002049.4(GATA1):c.164C>T (p.Ala55Val) GRCh37: ChrX:48649680 GRCh38: ChrX:48791273	GATA1	A55V	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 220134521.	NM_001022.4(RPS19):c.72-15C>T GRCh37: Chr19:42365166 GRCh38: Chr19:41861097	RPS19		Diamond-Blackfan anemia	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 220024522.	NM_001014.5(RPS10):c.400+20A>G GRCh37: Chr6:34389487 GRCh38: Chr6:34421710	RPS10, RPS10-NUDT3		Diamond-Blackfan anemia	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 220004223.	NM_001014.5(RPS10):c.165A>C (p.Arg55=) GRCh37: Chr6:34392603 GRCh38: Chr6:34424826	RPS10, RPS10-NUDT3		Diamond-Blackfan anemia	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 219970524.	NM_000987.5(RPL26):c.58A>G (p.Asn20Asp) GRCh37: Chr17:8285571 GRCh38: Chr17:8382253	RPL26	N20D	Diamond-Blackfan anemia	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 219970425.	NM_000969.5(RPL5):c.138A>C (p.Thr46=) GRCh37: Chr1:93299166 GRCh38: Chr1:92833609	DIPK1A, RPL5		Diamond-Blackfan anemia	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 219961126.	NM_001014.5(RPS10):c.151-20A>G GRCh37: Chr6:34392637 GRCh38: Chr6:34424860	RPS10, RPS10-NUDT3		Diamond-Blackfan anemia	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 219927427.	NM_002049.4(GATA1):c.156A>C (p.Thr52=) GRCh37: ChrX:48649672 GRCh38: ChrX:48791265	GATA1		GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 219913228.	NM_033022.4(RPS24):c.69+17C>T GRCh37: Chr10:79795192 GRCh38: Chr10:78035434	RPS24		Diamond-Blackfan anemia	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 219852329.	NM_000987.5(RPL26):c.286C>T (p.His96Tyr) GRCh37: Chr17:8283137 GRCh38: Chr17:8379819	RPL26	H96Y	Diamond-Blackfan anemia	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 219802030.	NM_000987.5(RPL26):c.369C>T (p.Ala123=) GRCh37: Chr17:8280951 GRCh38: Chr17:8377633	RPL26		Diamond-Blackfan anemia	Likely benign (Apr 30, 2022)	criteria provided, single submitter
Select item 219793031.	NM_001022.4(RPS19):c.52C>T (p.Leu18=) GRCh37: Chr19:42364896 GRCh38: Chr19:41860826	RPS19		Diamond-Blackfan anemia	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 219709232.	NM_002049.4(GATA1):c.446G>A (p.Gly149Glu) GRCh37: ChrX:48650476 GRCh38: ChrX:48792069	GATA1	G149E	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 219669533.	NM_000987.5(RPL26):c.29A>C (p.Asp10Ala) GRCh37: Chr17:8285600 GRCh38: Chr17:8382282	RPL26	D10A	Diamond-Blackfan anemia	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 219637234.	NM_033022.4(RPS24):c.3+7C>G GRCh37: Chr10:79793669 GRCh38: Chr10:78033911	RPS24		Diamond-Blackfan anemia	Likely benign (Jan 13, 2022)	criteria provided, single submitter
Select item 219485535.	NM_000987.5(RPL26):c.349A>C (p.Lys117Gln) GRCh37: Chr17:8280971 GRCh38: Chr17:8377653	RPL26	K117Q	Diamond-Blackfan anemia	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 219465336.	NM_033022.4(RPS24):c.320G>A (p.Arg107Gln) GRCh37: Chr10:79796992 GRCh38: Chr10:78037234	RPS24	R107Q	Diamond-Blackfan anemia	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 219219937.	NM_000969.5(RPL5):c.4-9T>C GRCh37: Chr1:93298937 GRCh38: Chr1:92833380	DIPK1A, RPL5		Diamond-Blackfan anemia	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 219198538.	NM_033022.4(RPS24):c.277A>C (p.Arg93=) GRCh37: Chr10:79795476 GRCh38: Chr10:78035718	RPS24		Diamond-Blackfan anemia	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 218951339.	NM_000969.5(RPL5):c.319C>T (p.Arg107Cys) GRCh37: Chr1:93300465 GRCh38: Chr1:92834908	DIPK1A, RPL5	R107C	Diamond-Blackfan anemia	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 218855840.	NM_001014.5(RPS10):c.202T>C (p.Tyr68His) GRCh37: Chr6:34392566 GRCh38: Chr6:34424789	RPS10, RPS10-NUDT3	Y68H	Diamond-Blackfan anemia	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 218855741.	NM_001014.5(RPS10):c.473G>A (p.Arg158His) GRCh37: Chr6:34385308 GRCh38: Chr6:34417531	RPS10, RPS10-NUDT3	R158H	Diamond-Blackfan anemia	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 218842742.	NM_002049.4(GATA1):c.300G>C (p.Lys100Asn) GRCh37: ChrX:48650330 GRCh38: ChrX:48791923	GATA1	K100N	Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 218723143.	NM_000975.5(RPL11):c.7C>G (p.Gln3Glu) GRCh37: Chr1:24019099 GRCh38: Chr1:23692609	RPL11	Q3E	Diamond-Blackfan anemia	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 218678944.	NM_000987.5(RPL26):c.377G>C (p.Arg126Pro) GRCh37: Chr17:8280943 GRCh38: Chr17:8377625	RPL26	R126P	Diamond-Blackfan anemia	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 218353645.	NM_000969.5(RPL5):c.233C>G (p.Ala78Gly) GRCh37: Chr1:93300379 GRCh38: Chr1:92834822	DIPK1A, RPL5	A78G	Diamond-Blackfan anemia	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 218300246.	NM_002049.4(GATA1):c.291C>A (p.Ala97=) GRCh37: ChrX:48650321 GRCh38: ChrX:48791914	GATA1		GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 218255447.	NM_000969.5(RPL5):c.324+8C>A GRCh37: Chr1:93300478 GRCh38: Chr1:92834921	DIPK1A, RPL5		Diamond-Blackfan anemia	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 218097248.	NM_001022.4(RPS19):c.120C>G (p.Ala40=) GRCh37: Chr19:42365229 GRCh38: Chr19:41861160	RPS19		Diamond-Blackfan anemia	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 217878049.	NM_001014.5(RPS10):c.463G>A (p.Gly155Arg) GRCh37: Chr6:34385318 GRCh38: Chr6:34417541	RPS10, RPS10-NUDT3	G155R	Diamond-Blackfan anemia	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 217860050.	NM_000987.5(RPL26):c.309+18T>C GRCh37: Chr17:8283096 GRCh38: Chr17:8379778	RPL26		Diamond-Blackfan anemia	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 217287851.	NM_000969.5(RPL5):c.393T>C (p.Asn131=) GRCh37: Chr1:93301815 GRCh38: Chr1:92836258	DIPK1A, RPL5		Diamond-Blackfan anemia	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 217270152.	NM_000969.5(RPL5):c.220A>G (p.Ile74Val) GRCh37: Chr1:93300366 GRCh38: Chr1:92834809	DIPK1A, RPL5	I74V	Diamond-Blackfan anemia	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 217054553.	NM_001022.4(RPS19):c.213G>T (p.Gly71=) GRCh37: Chr19:42373141 GRCh38: Chr19:41869071	RPS19	G76C	Diamond-Blackfan anemia	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 216819854.	NM_002049.4(GATA1):c.832G>A (p.Val278Met) GRCh37: ChrX:48651666 GRCh38: ChrX:48793259	GATA1	V278M	Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis	Uncertain significance (Sep 18, 2022)	criteria provided, single submitter
Select item 216652755.	NM_000969.5(RPL5):c.891C>A (p.Ser297Arg) GRCh37: Chr1:93307419 GRCh38: Chr1:92841862	DIPK1A, RPL5	S297R	Diamond-Blackfan anemia	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 216300756.	NM_001022.4(RPS19):c.356+15G>A GRCh37: Chr19:42373299 GRCh38: Chr19:41869229	RPS19		Diamond-Blackfan anemia	Likely benign (Oct 30, 2022)	criteria provided, single submitter
Select item 216239757.	NM_000987.5(RPL26):c.382G>A (p.Val128Ile) GRCh37: Chr17:8280938 GRCh38: Chr17:8377620	RPL26	V128I	Diamond-Blackfan anemia	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 216089858.	NM_000969.5(RPL5):c.257A>G (p.Tyr86Cys) GRCh37: Chr1:93300403 GRCh38: Chr1:92834846	DIPK1A, RPL5	Y86C	Diamond-Blackfan anemia	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 216069859.	NM_002049.4(GATA1):c.976G>A (p.Ala326Thr) GRCh37: ChrX:48652305 GRCh38: ChrX:48793898	GATA1	A326T	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 216064160.	NM_000975.5(RPL11):c.157+9T>G GRCh37: Chr1:24019258 GRCh38: Chr1:23692768	RPL11		Diamond-Blackfan anemia	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 216051061.	NM_001014.5(RPS10):c.151-19G>A GRCh37: Chr6:34392636 GRCh38: Chr6:34424859	RPS10, RPS10-NUDT3		Diamond-Blackfan anemia	Uncertain significance (Oct 1, 2022)	criteria provided, single submitter
Select item 216030262.	NM_001022.4(RPS19):c.365A>G (p.Lys122Arg) GRCh37: Chr19:42373777 GRCh38: Chr19:41869707	RPS19	K122R	Diamond-Blackfan anemia	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 215932263.	NM_000969.5(RPL5):c.479_480del (p.Phe160fs) GRCh37: Chr1:93301898-93301899 GRCh38: Chr1:92836341-92836342	DIPK1A, RPL5	F160fs	Diamond-Blackfan anemia	Pathogenic (Aug 3, 2022)	criteria provided, single submitter
Select item 215761064.	NM_000987.5(RPL26):c.310-16dup GRCh37: Chr17:8281025-8281026 GRCh38: Chr17:8377707-8377708	RPL26		Diamond-Blackfan anemia	Benign (Oct 11, 2022)	criteria provided, single submitter
Select item 215720265.	NM_001022.4(RPS19):c.49G>A (p.Ala17Thr) GRCh37: Chr19:42364893 GRCh38: Chr19:41860823	RPS19	A17T	Diamond-Blackfan anemia	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 215719366.	NM_033022.4(RPS24):c.280-19G>T GRCh37: Chr10:79796933 GRCh38: Chr10:78037175	RPS24		Diamond-Blackfan anemia	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 215715367.	NM_002049.4(GATA1):c.1229C>T (p.Pro410Leu) GRCh37: ChrX:48652558 GRCh38: ChrX:48794151	GATA1	P410L	Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 215693068.	NM_000969.5(RPL5):c.179T>C (p.Ile60Thr) GRCh37: Chr1:93299207 GRCh38: Chr1:92833650	DIPK1A, RPL5	I60T	Diamond-Blackfan anemia	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 215666369.	NM_002049.4(GATA1):c.1043A>C (p.Glu348Ala) GRCh37: ChrX:48652372 GRCh38: ChrX:48793965	GATA1	E348A	Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 215612070.	NM_002049.4(GATA1):c.416A>G (p.Glu139Gly) GRCh37: ChrX:48650446 GRCh38: ChrX:48792039	GATA1	E139G	Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 215553871.	NM_001014.5(RPS10):c.151-4A>G GRCh37: Chr6:34392621 GRCh38: Chr6:34424844	RPS10, RPS10-NUDT3		Diamond-Blackfan anemia	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 215538472.	NM_001022.4(RPS19):c.108C>T (p.Thr36=) GRCh37: Chr19:42365217 GRCh38: Chr19:41861148	RPS19		Diamond-Blackfan anemia	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 215469973.	NM_002049.4(GATA1):c.871-20C>T GRCh37: ChrX:48652180 GRCh38: ChrX:48793773	LOC119407405, GATA1		GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia	Benign (Oct 12, 2022)	criteria provided, single submitter
Select item 215460274.	NM_001022.4(RPS19):c.132G>A (p.Glu44=) GRCh37: Chr19:42365241 GRCh38: Chr19:41861172	RPS19		Diamond-Blackfan anemia	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 215418975.	NM_000969.5(RPL5):c.527+14_527+17dup GRCh37: Chr1:93301962-93301963 GRCh38: Chr1:92836405-92836406	DIPK1A, RPL5		Diamond-Blackfan anemia	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 215335676.	NM_002049.4(GATA1):c.1236C>A (p.Ser412Arg) GRCh37: ChrX:48652565 GRCh38: ChrX:48794158	GATA1	S412R	Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 214944677.	NM_002049.4(GATA1):c.1146C>T (p.Phe382=) GRCh37: ChrX:48652475 GRCh38: ChrX:48794068	GATA1		Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 214909078.	NM_033022.4(RPS24):c.384C>G (p.Gly128=) GRCh37: Chr10:79797056 GRCh38: Chr10:78037298	RPS24		Diamond-Blackfan anemia	Likely benign (Dec 8, 2021)	criteria provided, single submitter
Select item 214884579.	NM_000987.5(RPL26):c.357C>G (p.Leu119=) GRCh37: Chr17:8280963 GRCh38: Chr17:8377645	RPL26		Diamond-Blackfan anemia	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 214821980.	NM_001022.4(RPS19):c.141C>T (p.Pro47=) GRCh37: Chr19:42365250 GRCh38: Chr19:41861181	RPS19		Diamond-Blackfan anemia	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 214813681.	NM_000969.5(RPL5):c.377C>T (p.Thr126Ile) GRCh37: Chr1:93301799 GRCh38: Chr1:92836242	DIPK1A, RPL5	T126I	Diamond-Blackfan anemia	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 214786782.	NM_002049.4(GATA1):c.143C>A (p.Thr48Asn) GRCh37: ChrX:48649659 GRCh38: ChrX:48791252	GATA1	T48N	Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 214516883.	NM_000969.5(RPL5):c.3+18T>G GRCh37: Chr1:93297692 GRCh38: Chr1:92832135	RPL5		Diamond-Blackfan anemia	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 214510184.	NM_000969.5(RPL5):c.528-20T>C GRCh37: Chr1:93302993 GRCh38: Chr1:92837436	DIPK1A, RPL5		Diamond-Blackfan anemia	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 214464385.	NM_000975.5(RPL11):c.490C>T (p.Arg164Cys) GRCh37: Chr1:24022381 GRCh38: Chr1:23695891	RPL11	R164C, R163C	Diamond-Blackfan anemia	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 214363186.	NM_002049.4(GATA1):c.598+14A>T GRCh37: ChrX:48650642 GRCh38: ChrX:48792235	GATA1		GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 214286287.	NM_001022.4(RPS19):c.200G>A (p.Arg67Gln) GRCh37: Chr19:42373128 GRCh38: Chr19:41869058	RPS19	R67Q	Diamond-Blackfan anemia	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 214271288.	NM_001022.4(RPS19):c.411+19G>A GRCh37: Chr19:42373842 GRCh38: Chr19:41869772	RPS19		Diamond-Blackfan anemia	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 214231589.	NM_000975.5(RPL11):c.38G>A (p.Arg13Gln) GRCh37: Chr1:24019130 GRCh38: Chr1:23692640	RPL11	R12Q, R13Q	Diamond-Blackfan anemia	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 214147490.	NM_000969.5(RPL5):c.877C>T (p.Arg293Trp) GRCh37: Chr1:93307405 GRCh38: Chr1:92841848	DIPK1A, RPL5	R293W	Diamond-Blackfan anemia	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 213974191.	NM_000987.5(RPL26):c.168+15T>G GRCh37: Chr17:8285446 GRCh38: Chr17:8382128	RPL26		Diamond-Blackfan anemia	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 213923892.	NM_002049.4(GATA1):c.510T>G (p.Ser170Arg) GRCh37: ChrX:48650540 GRCh38: ChrX:48792133	GATA1	S170R	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 213830093.	NM_001022.4(RPS19):c.166C>T (p.Arg56Ter) GRCh37: Chr19:42365275 GRCh38: Chr19:41861206	RPS19	R56*	Diamond-Blackfan anemia	Pathogenic (Apr 23, 2022)	criteria provided, single submitter
Select item 213829994.	NM_001022.4(RPS19):c.94G>T (p.Glu32Ter) GRCh37: Chr19:42365203 GRCh38: Chr19:41861134	RPS19	E32*	Diamond-Blackfan anemia, not provided	Pathogenic (Feb 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 213449795.	NM_001014.5(RPS10):c.317C>T (p.Pro106Leu) GRCh37: Chr6:34392451 GRCh38: Chr6:34424674	RPS10, RPS10-NUDT3	P106L	Diamond-Blackfan anemia	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 212901496.	NM_001022.4(RPS19):c.101del (p.Val34fs) GRCh37: Chr19:42365210 GRCh38: Chr19:41861141	RPS19	V34fs	Diamond-Blackfan anemia	Pathogenic (Apr 21, 2022)	criteria provided, single submitter
Select item 212535697.	NM_002049.4(GATA1):c.155_174dup (p.Ala59fs) GRCh37: ChrX:48649670-48649671 GRCh38: ChrX:48791263-48791264	GATA1	A59fs	Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis	Pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 212081098.	NM_001022.4(RPS19):c.328C>G (p.Leu110Val) GRCh37: Chr19:42373256 GRCh38: Chr19:41869186	RPS19	A114G, L110V	Diamond-Blackfan anemia	Uncertain significance (Jan 14, 2022)	criteria provided, single submitter
Select item 211812199.	NM_001022.4(RPS19):c.266C>G (p.Pro89Arg) GRCh37: Chr19:42373194 GRCh38: Chr19:41869124	RPS19	P89R	Diamond-Blackfan anemia	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 2117621100.	NM_000975.5(RPL11):c.142C>T (p.Pro48Ser) GRCh37: Chr1:24019234 GRCh38: Chr1:23692744	RPL11	P47S, P48S	Diamond-Blackfan anemia	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter

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