ClinVar for MedGen (Select 2611) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25062121.	NM_000518.4(HBB):c.-136C>A GRCh37: Chr11:5248387 GRCh38: Chr11:5227157	HBB, LOC106099062, LOC107133510		beta Thalassemia	Likely pathogenic (May 10, 2023)	criteria provided, single submitter
Select item 16873152.	NM_000518.5(HBB):c.269del (p.Ser90fs) GRCh37: Chr11:5247853 GRCh38: Chr11:5226623	HBB, LOC106099062, LOC107133510	S90fs	beta Thalassemia	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 15278573.	NM_000518.5(HBB):c.72T>A (p.Val24=) GRCh37: Chr11:5248180 GRCh38: Chr11:5226950	HBB, LOC106099062, LOC107133510		beta Thalassemia	not provided	no assertion provided
Select item 12172404.	NM_000518.5(HBB):c.241A>T (p.Asn81Tyr) GRCh37: Chr11:5247881 GRCh38: Chr11:5226651	HBB, LOC106099062, LOC107133510	N81Y	not specified	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 10835415.	NM_000518.5(HBB):c.60C>T (p.Asn20=) GRCh37: Chr11:5248192 GRCh38: Chr11:5226962	HBB, LOC106099062, LOC107133510		not provided	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 10651516.	NM_000518.5(HBB):c.233_234del (p.His78fs) GRCh37: Chr11:5247888-5247889 GRCh38: Chr11:5226658-5226659	HBB, LOC106099062, LOC107133510	H78fs	Beta-thalassemia HBB/LCRB, beta Thalassemia	Likely pathogenic (Apr 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10486667.	NC_000011.10:g.5224303_5227790del GRCh37: Chr11:5245533-5249020 GRCh38: Chr11:5224303-5227790	HBB, LOC106099062, LOC107133510, LOC110006319		beta Thalassemia	Pathogenic (Mar 1, 2021)	no assertion criteria provided
Select item 9958018.	NM_000518.5(HBB):c.40G>A (p.Ala14Thr) GRCh37: Chr11:5248212 GRCh38: Chr11:5226982	HBB, LOC106099062, LOC107133510	A14T	beta Thalassemia	Benign (Dec 1, 2020)	no assertion criteria provided
Select item 9958009.	NM_000518.5(HBB):c.373C>A (p.Pro125Thr) GRCh37: Chr11:5246899 GRCh38: Chr11:5225669	HBB, LOC107133510, LOC110006319	P125T	beta Thalassemia	Benign (Dec 1, 2020)	no assertion criteria provided
Select item 99111610.	NM_000518.5(HBB):c.237G>C (p.Leu79=) GRCh37: Chr11:5247885 GRCh38: Chr11:5226655	HBB, LOC106099062, LOC107133510		beta Thalassemia	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 99111511.	NM_000518.5(HBB):c.387T>A (p.Ala129=) GRCh37: Chr11:5246885 GRCh38: Chr11:5225655	LOC107133510, LOC110006319, HBB		not provided	Likely benign (Sep 8, 2022)	criteria provided, single submitter
Select item 98449712.	NC_000011.9:g.(5246957_5247806)_(5248302_?)del GRCh37: Chr11:5246957-5248302	HBB		beta Thalassemia	Pathogenic (Oct 2, 2020)	criteria provided, single submitter
Select item 98200913.	NC_000011.10:g.(?_5225465)_(5227072_?)del GRCh37: Chr11:5246695-5248302	HBB		beta Thalassemia	Pathogenic (Jun 10, 2019)	criteria provided, single submitter
Select item 92876114.	NM_000518.5(HBB):c.167T>C (p.Met56Thr) GRCh37: Chr11:5247955 GRCh38: Chr11:5226725	HBB, LOC106099062, LOC107133510	M56T	not specified	Uncertain significance (Dec 16, 2019)	criteria provided, single submitter
Select item 91808715.	NM_000518.5(HBB):c.-4C>T GRCh37: Chr11:5248255 GRCh38: Chr11:5227025	HBB, LOC106099062, LOC107133510		not specified	Uncertain significance (Mar 6, 2020)	criteria provided, single submitter
Select item 87984016.	NM_000518.5(HBB):c.85C>T (p.Leu29=) GRCh37: Chr11:5248167 GRCh38: Chr11:5226937	HBB, LOC106099062, LOC107133510		not provided, not specified, Fetal hemoglobin quantitative trait locus 1, beta Thalassemia, Hemoglobin E, Hb SS disease	Conflicting interpretations of pathogenicity (Dec 18, 2021)	criteria provided, conflicting interpretations
Select item 87941717.	NM_000518.5(HBB):c.*18C>A GRCh37: Chr11:5246810 GRCh38: Chr11:5225580	HBB, LOC107133510, LOC110006319		Fetal hemoglobin quantitative trait locus 1, beta Thalassemia, Hemoglobin E, Hb SS disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87883618.	NM_000518.5(HBB):c.*59A>G GRCh37: Chr11:5246769 GRCh38: Chr11:5225539	HBB, LOC107133510, LOC110006319		beta Thalassemia, Fetal hemoglobin quantitative trait locus 1, Hemoglobin E, Hb SS disease	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 86936319.	NM_000518.5(HBB):c.78dup (p.Glu27Ter) GRCh37: Chr11:5248173-5248174 GRCh38: Chr11:5226943-5226944	HBB, LOC106099062, LOC107133510	E27*	not provided	Pathogenic (Jul 17, 2020)	criteria provided, single submitter
Select item 86936220.	NM_000518.5(HBB):c.74delinsCAC (p.Gly25fs) GRCh37: Chr11:5248178 GRCh38: Chr11:5226948	HBB, LOC106099062, LOC107133510	G25fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86936121.	NM_000518.5(HBB):c.74del (p.Gly25fs) GRCh37: Chr11:5248178 GRCh38: Chr11:5226948	HBB, LOC106099062, LOC107133510	G25fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86936022.	NM_000518.5(HBB):c.68_74del (p.Glu23fs) GRCh37: Chr11:5248178-5248184 GRCh38: Chr11:5226948-5226954	HBB, LOC106099062, LOC107133510	E23fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86935923.	NM_000518.5(HBB):c.67G>T (p.Glu23Ter) GRCh37: Chr11:5248185 GRCh38: Chr11:5226955	HBB, LOC106099062, LOC107133510	E23*	not provided	Pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 86935824.	NM_000518.5(HBB):c.50dup (p.Lys18fs) GRCh37: Chr11:5248201-5248202 GRCh38: Chr11:5226971-5226972	HBB, LOC106099062, LOC107133510	K18fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86935725.	NM_000518.5(HBB):c.50del (p.Gly17fs) GRCh37: Chr11:5248202 GRCh38: Chr11:5226972	HBB, LOC106099062, LOC107133510	G17fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86935626.	NM_000518.5(HBB):c.315+5G>C GRCh37: Chr11:5247802 GRCh38: Chr11:5226572	HBB, LOC106099062, LOC107133510, LOC110006319		not provided	Pathogenic (Mar 14, 2023)	criteria provided, single submitter
Select item 86935527.	NM_000518.5(HBB):c.315+2T>C GRCh37: Chr11:5247805 GRCh38: Chr11:5226575	LOC107133510, LOC110006319, HBB, LOC106099062		Beta zero thalassemia, beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86935428.	NM_000518.5(HBB):c.315+255T>C GRCh37: Chr11:5247552 GRCh38: Chr11:5226322	HBB, LOC107133510, LOC110006319		not provided	Likely benign (Oct 9, 2019)	criteria provided, single submitter
Select item 86935329.	NM_000518.5(HBB):c.315+1del GRCh37: Chr11:5247806 GRCh38: Chr11:5226576	LOC110006319, HBB, LOC106099062, LOC107133510		beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86935230.	NM_000518.5(HBB):c.30dup (p.Ala11fs) GRCh37: Chr11:5248221-5248222 GRCh38: Chr11:5226991-5226992	HBB, LOC106099062, LOC107133510	A11fs	not provided, beta Thalassemia	Pathogenic (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86935131.	NM_000518.5(HBB):c.301_302delinsTCTGAGAACTT (p.Pro101delinsSerGluAsnPhe) GRCh37: Chr11:5247820-5247821 GRCh38: Chr11:5226590-5226591	HBB, LOC106099062, LOC107133510, LOC110006319		beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86935032.	NM_000518.5(HBB):c.28_29insTA (p.Ser10fs) GRCh37: Chr11:5248223-5248224 GRCh38: Chr11:5226993-5226994	HBB, LOC106099062, LOC107133510	S10fs	Beta-plus-thalassemia, beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86934933.	NM_000518.5(HBB):c.166dup (p.Met56fs) GRCh37: Chr11:5247955-5247956 GRCh38: Chr11:5226725-5226726	HBB, LOC106099062, LOC107133510	M56fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86934834.	NM_000518.5(HBB):c.166del (p.Met56fs) GRCh37: Chr11:5247956 GRCh38: Chr11:5226726	HBB, LOC106099062, LOC107133510	M56fs	not provided	Pathogenic (Dec 11, 2019)	criteria provided, single submitter
Select item 86934735.	NM_000518.5(HBB):c.165del (p.Met56fs) GRCh37: Chr11:5247957 GRCh38: Chr11:5226727	HBB, LOC106099062, LOC107133510	M56fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86934636.	NM_000518.5(HBB):c.165_177del (p.Met56fs) GRCh37: Chr11:5247945-5247957 GRCh38: Chr11:5226715-5226727	HBB, LOC106099062, LOC107133510	M56fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86934537.	NM_000518.5(HBB):c.163dup (p.Val55fs) GRCh37: Chr11:5247958-5247959 GRCh38: Chr11:5226728-5226729	HBB, LOC106099062, LOC107133510	V55fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86934438.	NM_000518.5(HBB):c.158del (p.Asp53fs) GRCh37: Chr11:5247964 GRCh38: Chr11:5226734	HBB, LOC106099062, LOC107133510	D53fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86934339.	NM_000518.5(HBB):c.153del (p.Pro52fs) GRCh37: Chr11:5247969 GRCh38: Chr11:5226739	HBB, LOC106099062, LOC107133510	P52fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86934240.	NM_000518.5(HBB):c.150del (p.Thr51fs) GRCh37: Chr11:5247972 GRCh38: Chr11:5226742	HBB, LOC106099062, LOC107133510	T51fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86934141.	NM_000518.5(HBB):c.146del (p.Leu49fs) GRCh37: Chr11:5247976 GRCh38: Chr11:5226746	HBB, LOC106099062, LOC107133510	L49fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86934042.	NM_000518.5(HBB):c.142dup (p.Asp48fs) GRCh37: Chr11:5247979-5247980 GRCh38: Chr11:5226749-5226750	LOC106099062, LOC107133510, HBB	D48fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86933943.	NM_000518.5(HBB):c.138dup (p.Gly47fs) GRCh37: Chr11:5247983-5247984 GRCh38: Chr11:5226753-5226754	HBB, LOC106099062, LOC107133510	G47fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86933844.	NM_000518.5(HBB):c.138del (p.Phe46fs) GRCh37: Chr11:5247984 GRCh38: Chr11:5226754	LOC107133510, LOC106099062, HBB	F46fs	Hemoglobinopathy, Dominant beta-thalassemia	Pathogenic (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86933145.	NC_000011.10:g.5284251_5289110del GRCh37: Chr11:5305477-5310336 GRCh38: Chr11:5284247-5289106	HBB, HBB-LCR		beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86933046.	NC_000011.10:g.5227540G>A GRCh37: Chr11:5248770 GRCh38: Chr11:5227540	HBB, LOC106099062, LOC107133510		not provided	Benign (Nov 12, 2018)	criteria provided, single submitter
Select item 86932947.	NC_000011.10:g.5227411G>A GRCh37: Chr11:5248641 GRCh38: Chr11:5227411	HBB, LOC106099062, LOC107133510		not provided	Benign (Nov 12, 2018)	criteria provided, single submitter
Select item 86932848.	NC_000011.10:g.5227159G>C GRCh37: Chr11:5248389 GRCh38: Chr11:5227159	HBB, LOC106099062, LOC107133510		beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86932749.	NC_000011.10:g.5227147G>T GRCh37: Chr11:5248377 GRCh38: Chr11:5227147	HBB, LOC106099062, LOC107133510		beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86932650.	NM_000518.5(HBB):c.-122T>A GRCh37: Chr11:5248373 GRCh38: Chr11:5227143	HBB, LOC106099062, LOC107133510		not specified	Uncertain significance (Oct 10, 2023)	criteria provided, single submitter
Select item 86932451.	NM_000518.5(HBB):c.[17del;9dup] GRCh37: Chr11:5248235 Chr11:5248242-5248243 GRCh38: Chr11:5227005 Chr11:5227012-5227013	HBB, LOC106099062, LOC107133510, HBB, LOC106099062, LOC107133510	P6fs, L4fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86932352.	NM_000518.5(HBB):c.94del (p.Leu32fs) GRCh37: Chr11:5248028 GRCh38: Chr11:5226798	HBB, LOC106099062, LOC107133510	L32fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86932253.	NM_000518.5(HBB):c.92_94dup (p.Arg31dup) GRCh37: Chr11:5248027-5248028 GRCh38: Chr11:5226797-5226798	HBB, LOC106099062, LOC107133510		beta Thalassemia, Dominant beta-thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86932154.	NM_000518.5(HBB):c.93G>C (p.Arg31Ser) GRCh37: Chr11:5248029 GRCh38: Chr11:5226799	HBB, LOC106099062, LOC107133510	R31S	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86932055.	NM_000518.5(HBB):c.44dup (p.Trp16fs) GRCh37: Chr11:5248207-5248208 GRCh38: Chr11:5226977-5226978	HBB, LOC106099062, LOC107133510	W16fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86931956.	NM_000518.5(HBB):c.44del (p.Leu15fs) GRCh37: Chr11:5248208 GRCh38: Chr11:5226978	LOC106099062, LOC107133510, HBB	L15fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86931857.	NM_000518.5(HBB):c.429_430del (p.His144fs) GRCh37: Chr11:5246842-5246843 GRCh38: Chr11:5225612-5225613	HBB, LOC107133510, LOC110006319	H144fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86931758.	NM_000518.5(HBB):c.417dup (p.Asn140Ter) GRCh37: Chr11:5246854-5246855 GRCh38: Chr11:5225624-5225625	HBB, LOC107133510, LOC110006319	N140*	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86931659.	NM_000518.5(HBB):c.3G>T (p.Met1Ile) GRCh37: Chr11:5248249 GRCh38: Chr11:5227019	HBB, LOC106099062, LOC107133510	M1I	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86931560.	NM_000518.5(HBB):c.3G>C (p.Met1Ile) GRCh37: Chr11:5248249 GRCh38: Chr11:5227019	HBB, LOC106099062, LOC107133510	M1I	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86931461.	NM_000518.5(HBB):c.397A>T (p.Lys133Ter) GRCh37: Chr11:5246875 GRCh38: Chr11:5225645	HBB, LOC107133510, LOC110006319	K133*	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86931362.	NM_000518.5(HBB):c.[385_388delinsCCACA;397_407del] GRCh37: Chr11:5246884-5246887 Chr11:5246865-5246875 GRCh38: Chr11:5225654-5225657 Chr11:5225635-5225645	HBB, LOC107133510, LOC110006319, HBB, LOC107133510, LOC110006319	A129fs, K133fs	Dominant beta-thalassemia, beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86931263.	NM_000518.5(HBB):c.395dup (p.Lys133fs) GRCh37: Chr11:5246876-5246877 GRCh38: Chr11:5225646-5225647	LOC110006319, HBB, LOC107133510	K133fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86931164.	NM_000518.5(HBB):c.394C>T (p.Gln132Ter) GRCh37: Chr11:5246878 GRCh38: Chr11:5225648	HBB, LOC107133510, LOC110006319	Q132*	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86931065.	NM_000518.5(HBB):c.275dup (p.His93fs) GRCh37: Chr11:5247846-5247847 GRCh38: Chr11:5226616-5226617	HBB, LOC106099062, LOC107133510	H93fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86930966.	NM_000518.5(HBB):c.272_295dup (p.Glu91_His98dup) GRCh37: Chr11:5247826-5247827 GRCh38: Chr11:5226596-5226597	HBB, LOC106099062, LOC107133510		beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86930867.	NM_000518.5(HBB):c.270_271del (p.Ser90fs) GRCh37: Chr11:5247851-5247852 GRCh38: Chr11:5226621-5226622	LOC106099062, LOC107133510, HBB	S90fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86930768.	NM_000518.5(HBB):c.27_28insAGAA (p.Ser10fs) GRCh37: Chr11:5248224-5248225 GRCh38: Chr11:5226994-5226995	HBB, LOC106099062, LOC107133510	S10fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86930669.	NM_000518.5(HBB):c.266dup (p.Ser90fs) GRCh37: Chr11:5247855-5247856 GRCh38: Chr11:5226625-5226626	HBB, LOC106099062, LOC107133510	S90fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86930570.	NM_000518.5(HBB):c.266_267del (p.Leu89fs) GRCh37: Chr11:5247855-5247856 GRCh38: Chr11:5226625-5226626	HBB, LOC106099062, LOC107133510	L89fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86930471.	NM_000518.5(HBB):c.265_266del (p.Leu89fs) GRCh37: Chr11:5247856-5247857 GRCh38: Chr11:5226626-5226627	HBB, LOC106099062, LOC107133510	L89fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86930372.	NM_000518.5(HBB):c.258dup (p.Ala87fs) GRCh37: Chr11:5247863-5247864 GRCh38: Chr11:5226633-5226634	HBB, LOC106099062, LOC107133510	A87fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86930273.	NM_000518.5(HBB):c.255dup (p.Phe86fs) GRCh37: Chr11:5247866-5247867 GRCh38: Chr11:5226636-5226637	HBB, LOC106099062, LOC107133510	F86fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86930174.	NM_000518.5(HBB):c.253_260del (p.Thr85fs) GRCh37: Chr11:5247862-5247869 GRCh38: Chr11:5226632-5226639	HBB, LOC106099062, LOC107133510	T85fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86930075.	NM_000518.5(HBB):c.24dup (p.Lys9fs) GRCh37: Chr11:5248227-5248228 GRCh38: Chr11:5226997-5226998	HBB, LOC106099062, LOC107133510	K9fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86929976.	NM_000518.5(HBB):c.244del (p.Leu82fs) GRCh37: Chr11:5247878 GRCh38: Chr11:5226648	HBB, LOC106099062, LOC107133510	L82fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86929877.	NM_000518.5(HBB):c.130dup (p.Glu44fs) GRCh37: Chr11:5247991-5247992 GRCh38: Chr11:5226761-5226762	HBB, LOC106099062, LOC107133510	E44fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86929778.	NM_000518.5(HBB):c.129dup (p.Glu44Ter) GRCh37: Chr11:5247992-5247993 GRCh38: Chr11:5226762-5226763	LOC106099062, LOC107133510, HBB	E44*	Hemoglobinopathy	Pathogenic (Feb 19, 2021)	criteria provided, single submitter
Select item 86929679.	NM_000518.5(HBB):c.129del (p.Phe43fs) GRCh37: Chr11:5247993 GRCh38: Chr11:5226763	HBB, LOC106099062, LOC107133510	F43fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86929580.	NM_000518.5(HBB):c.125dup (p.Phe43fs) GRCh37: Chr11:5247996-5247997 GRCh38: Chr11:5226766-5226767	HBB, LOC106099062, LOC107133510	F43fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86929481.	NM_000518.5(HBB):c.123del (p.Arg41fs) GRCh37: Chr11:5247999 GRCh38: Chr11:5226769	HBB, LOC106099062, LOC107133510	R41fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86929382.	NM_000518.5(HBB):c.11dup (p.Thr5fs) GRCh37: Chr11:5248240-5248241 GRCh38: Chr11:5227010-5227011	HBB, LOC106099062, LOC107133510	T5fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86929283.	NM_000518.5(HBB):c.118del (p.Gln40fs) GRCh37: Chr11:5248004 GRCh38: Chr11:5226774	LOC106099062, LOC107133510, HBB	Q40fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86929184.	NC_000011.10:g.5227131_5227256del GRCh37: Chr11:5248361-5248486 GRCh38: Chr11:5227131-5227256	HBB, LOC106099062, LOC107133510		beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86929085.	NC_000011.10:g.5227101A>G GRCh37: Chr11:5248331 GRCh38: Chr11:5227101	HBB, LOC106099062, LOC107133510		not provided	Pathogenic (Dec 12, 2019)	criteria provided, single submitter
Select item 86928986.	NC_000011.10:g.5227101A>C GRCh37: Chr11:5248331 GRCh38: Chr11:5227101	HBB, LOC106099062, LOC107133510		beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86928887.	NC_000011.10:g.5227100T>G GRCh37: Chr11:5248330 GRCh38: Chr11:5227100	HBB, LOC106099062, LOC107133510		beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86928788.	NC_000011.10:g.5227098T>A GRCh37: Chr11:5248328 GRCh38: Chr11:5227098	HBB, LOC106099062, LOC107133510		beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86928689.	NC_000011.10:g.5227097T>G GRCh37: Chr11:5248327 GRCh38: Chr11:5227097	HBB, LOC106099062, LOC107133510		beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86928590.	NM_000518.5(HBB):c.378del (p.Val127fs) GRCh37: Chr11:5246894 GRCh38: Chr11:5225664	HBB, LOC107133510, LOC110006319	V127fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86928491.	NM_000518.5(HBB):c.375dup (p.Pro126fs) GRCh37: Chr11:5246896-5246897 GRCh38: Chr11:5225666-5225667	HBB, LOC107133510, LOC110006319	P126fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86928392.	NM_000518.5(HBB):c.354del (p.Phe119fs) GRCh37: Chr11:5246918 GRCh38: Chr11:5225688	LOC110006319, HBB, LOC107133510	F119fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86928293.	NM_000518.5(HBB):c.349_350insTGAT (p.His117fs) GRCh37: Chr11:5246922-5246923 GRCh38: Chr11:5225692-5225693	HBB, LOC107133510, LOC110006319	H117fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86928194.	NM_000518.5(HBB):c.33del (p.Val12fs) GRCh37: Chr11:5248219 GRCh38: Chr11:5226989	LOC107133510, HBB, LOC106099062	V12fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86928095.	NM_000518.5(HBB):c.339T>A (p.Cys113Ter) GRCh37: Chr11:5246933 GRCh38: Chr11:5225703	HBB, LOC107133510, LOC110006319	C113*	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86927996.	NM_000518.5(HBB):c.339_345dup (p.Ala116fs) GRCh37: Chr11:5246926-5246927 GRCh38: Chr11:5225696-5225697	HBB, LOC107133510, LOC110006319	A116fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86927897.	NM_000518.5(HBB):c.319C>G (p.Leu107Val) GRCh37: Chr11:5246953 GRCh38: Chr11:5225723	HBB, LOC107133510, LOC110006319	L107V	not provided	Uncertain significance (Apr 19, 2020)	criteria provided, single submitter
Select item 86927798.	NM_000518.5(HBB):c.316-98_316-86dup GRCh37: Chr11:5247041-5247042 GRCh38: Chr11:5225811-5225812	HBB, LOC107133510, LOC110006319		beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 86927599.	NM_000518.5(HBB):c.244_265del (p.Asn81_Leu82insTer) GRCh37: Chr11:5247857-5247878 GRCh38: Chr11:5226627-5226648	HBB, LOC106099062, LOC107133510		beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided
Select item 869274100.	NM_000518.5(HBB):c.237_256del (p.Asp80fs) GRCh37: Chr11:5247866-5247885 GRCh38: Chr11:5226636-5226655	HBB, LOC106099062, LOC107133510	D80fs	beta Thalassemia	Pathogenic (Nov 25, 2019)	no assertion criteria provided

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