ClinVar for MedGen (Select 383840) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25850071.	NM_005989.4(AKR1D1):c.949C>T (p.His317Tyr) GRCh37: Chr7:137801376 GRCh38: Chr7:138116630	AKR1D1	S289L, H276Y, H317Y	Congenital bile acid synthesis defect 2	Uncertain significance	criteria provided, single submitter
Select item 24389572.	NM_005989.4(AKR1D1):c.66_71del (p.Leu23_Gly24del) GRCh37: Chr7:137761328-137761333 GRCh38: Chr7:138076582-138076587	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Dec 4, 2020)	criteria provided, single submitter
Select item 19468623.	NM_005989.4(AKR1D1):c.157G>A (p.Asp53Asn) GRCh37: Chr7:137773410 GRCh38: Chr7:138088664	AKR1D1	D53N	not provided, Congenital bile acid synthesis defect 2	Uncertain significance (Jun 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13238724.	NM_005989.4(AKR1D1):c.864del (p.Ser290fs) GRCh37: Chr7:137798444 GRCh38: Chr7:138113698	AKR1D1	S249fs, S290fs	Congenital bile acid synthesis defect 2	Likely pathogenic (Oct 25, 2021)	criteria provided, single submitter
Select item 10706355.	NM_005989.4(AKR1D1):c.148C>T (p.Arg50Ter) GRCh37: Chr7:137773401 GRCh38: Chr7:138088655	AKR1D1	R50*	not provided, Congenital bile acid synthesis defect 2	Pathogenic (May 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 10644516.	NM_005989.4(AKR1D1):c.797G>A (p.Arg266Gln) GRCh37: Chr7:137792268 GRCh38: Chr7:138107522	AKR1D1	R225Q, R266Q	Congenital bile acid synthesis defect 2	Likely pathogenic (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10309877.	NM_005989.4(AKR1D1):c.675T>A (p.Ser225Arg) GRCh37: Chr7:137791449 GRCh38: Chr7:138106703	AKR1D1	S184R, S225R	Congenital bile acid synthesis defect 2	Uncertain significance (Sep 26, 2019)	criteria provided, single submitter
Select item 10309868.	NM_005989.4(AKR1D1):c.647T>C (p.Ile216Thr) GRCh37: Chr7:137791421 GRCh38: Chr7:138106675	AKR1D1	I216T, I175T	Inborn genetic diseases, Congenital bile acid synthesis defect 2	Uncertain significance (Jun 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10309859.	NM_005989.4(AKR1D1):c.509A>G (p.Asn170Ser) GRCh37: Chr7:137790105 GRCh38: Chr7:138105359	AKR1D1	N170S	Congenital bile acid synthesis defect 2	Uncertain significance (Sep 23, 2020)	criteria provided, single submitter
Select item 91533110.	NM_005989.4(AKR1D1):c.796C>T (p.Arg266Ter) GRCh37: Chr7:137792267 GRCh38: Chr7:138107521	AKR1D1	R225, R266	Congenital bile acid synthesis defect 2	Pathogenic/Likely pathogenic (May 3, 2020)	criteria provided, multiple submitters, no conflicts
Select item 91529011.	NM_005989.4(AKR1D1):c.267G>A (p.Trp89Ter) GRCh37: Chr7:137776519 GRCh38: Chr7:138091773	AKR1D1	W89*	Congenital bile acid synthesis defect 2	Pathogenic (May 3, 2020)	criteria provided, single submitter
Select item 91150112.	NM_005989.4(AKR1D1):c.*1173A>C GRCh37: Chr7:137802581 GRCh38: Chr7:138117835	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91144613.	NM_005989.4(AKR1D1):c.*710T>C GRCh37: Chr7:137802118 GRCh38: Chr7:138117372	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91144514.	NM_005989.4(AKR1D1):c.*667C>T GRCh37: Chr7:137802075 GRCh38: Chr7:138117329	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91144415.	NM_005989.4(AKR1D1):c.*655T>C GRCh37: Chr7:137802063 GRCh38: Chr7:138117317	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91144316.	NM_005989.4(AKR1D1):c.*598G>A GRCh37: Chr7:137802006 GRCh38: Chr7:138117260	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 91144217.	NM_005989.4(AKR1D1):c.*537T>C GRCh37: Chr7:137801945 GRCh38: Chr7:138117199	AKR1D1		not provided, Congenital bile acid synthesis defect 2	Conflicting interpretations of pathogenicity (Dec 1, 2022)	criteria provided, conflicting interpretations
Select item 91144118.	NM_005989.4(AKR1D1):c.*432A>G GRCh37: Chr7:137801840 GRCh38: Chr7:138117094	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91137119.	NM_005989.4(AKR1D1):c.454G>A (p.Glu152Lys) GRCh37: Chr7:137782687 GRCh38: Chr7:138097941	AKR1D1	E152K	Congenital bile acid synthesis defect 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91137020.	NM_005989.4(AKR1D1):c.392T>A (p.Ile131Lys) GRCh37: Chr7:137782625 GRCh38: Chr7:138097879	AKR1D1	I131K	Inborn genetic diseases, Congenital bile acid synthesis defect 2	Uncertain significance (Jan 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 91136921.	NM_005989.4(AKR1D1):c.297C>T (p.Arg99=) GRCh37: Chr7:137776549 GRCh38: Chr7:138091803	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91136822.	NM_005989.4(AKR1D1):c.195G>A (p.Gly65=) GRCh37: Chr7:137773448 GRCh38: Chr7:138088702	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91124123.	NM_005989.4(AKR1D1):c.*421T>C GRCh37: Chr7:137801829 GRCh38: Chr7:138117083	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91124024.	NM_005989.4(AKR1D1):c.*375A>G GRCh37: Chr7:137801783 GRCh38: Chr7:138117037	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91123925.	NM_005989.4(AKR1D1):c.*372C>T GRCh37: Chr7:137801780 GRCh38: Chr7:138117034	AKR1D1		Congenital bile acid synthesis defect 2	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 91116726.	NM_005989.4(AKR1D1):c.-26T>G GRCh37: Chr7:137761239 GRCh38: Chr7:138076493	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91034227.	NM_005989.4(AKR1D1):c.*1631A>C GRCh37: Chr7:137803039 GRCh38: Chr7:138118293	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91034128.	NM_005989.4(AKR1D1):c.*1559A>T GRCh37: Chr7:137802967 GRCh38: Chr7:138118221	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91034029.	NM_005989.4(AKR1D1):c.*1435G>A GRCh37: Chr7:137802843 GRCh38: Chr7:138118097	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91028330.	NM_005989.4(AKR1D1):c.*1139G>T GRCh37: Chr7:137802547 GRCh38: Chr7:138117801	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91028231.	NM_005989.4(AKR1D1):c.*1124A>G GRCh37: Chr7:137802532 GRCh38: Chr7:138117786	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91028132.	NM_005989.4(AKR1D1):c.*1100A>G GRCh37: Chr7:137802508 GRCh38: Chr7:138117762	AKR1D1		Congenital bile acid synthesis defect 2	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90939033.	NM_005989.4(AKR1D1):c.*1384T>G GRCh37: Chr7:137802792 GRCh38: Chr7:138118046	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Feb 16, 2018)	criteria provided, single submitter
Select item 90938934.	NM_005989.4(AKR1D1):c.*1352G>A GRCh37: Chr7:137802760 GRCh38: Chr7:138118014	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90938835.	NM_005989.4(AKR1D1):c.*1326C>T GRCh37: Chr7:137802734 GRCh38: Chr7:138117988	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90938736.	NM_005989.4(AKR1D1):c.*1305C>A GRCh37: Chr7:137802713 GRCh38: Chr7:138117967	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90930937.	NM_005989.4(AKR1D1):c.*1086G>A GRCh37: Chr7:137802494 GRCh38: Chr7:138117748	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90930838.	NM_005989.4(AKR1D1):c.*1084G>A GRCh37: Chr7:137802492 GRCh38: Chr7:138117746	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90930739.	NM_005989.4(AKR1D1):c.*1036T>C GRCh37: Chr7:137802444 GRCh38: Chr7:138117698	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90924340.	NM_005989.4(AKR1D1):c.*171T>C GRCh37: Chr7:137801579 GRCh38: Chr7:138116833	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90924241.	NM_005989.4(AKR1D1):c.*102C>A GRCh37: Chr7:137801510 GRCh38: Chr7:138116764	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90924142.	NM_005989.4(AKR1D1):c.*52G>A GRCh37: Chr7:137801460 GRCh38: Chr7:138116714	AKR1D1		Congenital bile acid synthesis defect 2	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90853343.	NM_005989.4(AKR1D1):c.*1229G>C GRCh37: Chr7:137802637 GRCh38: Chr7:138117891	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90853244.	NM_005989.4(AKR1D1):c.*1218G>A GRCh37: Chr7:137802626 GRCh38: Chr7:138117880	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90846545.	NM_005989.4(AKR1D1):c.*933T>C GRCh37: Chr7:137802341 GRCh38: Chr7:138117595	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90846446.	NM_005989.4(AKR1D1):c.*886T>G GRCh37: Chr7:137802294 GRCh38: Chr7:138117548	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90846347.	NM_005989.4(AKR1D1):c.*834T>G GRCh37: Chr7:137802242 GRCh38: Chr7:138117496	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90846248.	NM_005989.4(AKR1D1):c.*748C>T GRCh37: Chr7:137802156 GRCh38: Chr7:138117410	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90846149.	NM_005989.4(AKR1D1):c.*734T>C GRCh37: Chr7:137802142 GRCh38: Chr7:138117396	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90839350.	NM_005989.4(AKR1D1):c.782G>A (p.Arg261His) GRCh37: Chr7:137792253 GRCh38: Chr7:138107507	AKR1D1	R220H, R261H	Congenital bile acid synthesis defect 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90839251.	NM_005989.4(AKR1D1):c.773T>C (p.Ile258Thr) GRCh37: Chr7:137792244 GRCh38: Chr7:138107498	AKR1D1	I217T, I258T	Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90839152.	NM_005989.4(AKR1D1):c.655T>C (p.Tyr219His) GRCh37: Chr7:137791429 GRCh38: Chr7:138106683	AKR1D1	Y178H, Y219H	Congenital bile acid synthesis defect 2	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90839053.	NM_005989.4(AKR1D1):c.642T>C (p.Ile214=) GRCh37: Chr7:137791416 GRCh38: Chr7:138106670	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 80083954.	NM_005989.4(AKR1D1):c.940T>C (p.Trp314Arg) GRCh37: Chr7:137801367 GRCh38: Chr7:138116621	AKR1D1	W273R, V286A, W314R	Congenital bile acid synthesis defect 2	Likely pathogenic (May 8, 2023)	criteria provided, single submitter
Select item 63249755.	NM_005989.4(AKR1D1):c.689+1G>T GRCh37: Chr7:137791464 GRCh38: Chr7:138106718	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Oct 28, 2016)	criteria provided, single submitter
Select item 59537056.	NM_005989.4(AKR1D1):c.583G>T (p.Glu195Ter) GRCh37: Chr7:137791357 GRCh38: Chr7:138106611	AKR1D1	E195, E154	not provided, Congenital bile acid synthesis defect 2	Conflicting interpretations of pathogenicity (Nov 6, 2018)	criteria provided, conflicting interpretations
Select item 59476657.	NM_005989.4(AKR1D1):c.332T>C (p.Leu111Pro) GRCh37: Chr7:137776584 GRCh38: Chr7:138091838	AKR1D1	L111P	not provided, Congenital bile acid synthesis defect 2	Conflicting interpretations of pathogenicity (May 28, 2019)	criteria provided, conflicting interpretations
Select item 35899858.	NM_005989.4(AKR1D1):c.*1484T>C GRCh37: Chr7:137802892 GRCh38: Chr7:138118146	AKR1D1		Congenital bile acid synthesis defect 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35899759.	NM_005989.4(AKR1D1):c.*1417C>T GRCh37: Chr7:137802825 GRCh38: Chr7:138118079	AKR1D1		Congenital bile acid synthesis defect 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35899660.	NM_005989.4(AKR1D1):c.*1363A>G GRCh37: Chr7:137802771 GRCh38: Chr7:138118025	AKR1D1		Congenital bile acid synthesis defect 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35899461.	NM_005989.4(AKR1D1):c.*1343C>T GRCh37: Chr7:137802751 GRCh38: Chr7:138118005	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35899362.	NM_005989.4(AKR1D1):c.*1311A>C GRCh37: Chr7:137802719 GRCh38: Chr7:138117973	AKR1D1		Congenital bile acid synthesis defect 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35899263.	NM_005989.4(AKR1D1):c.*1298A>G GRCh37: Chr7:137802706 GRCh38: Chr7:138117960	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35899164.	NM_005989.4(AKR1D1):c.*1288A>C GRCh37: Chr7:137802696 GRCh38: Chr7:138117950	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35899065.	NM_005989.4(AKR1D1):c.*1282G>A GRCh37: Chr7:137802690 GRCh38: Chr7:138117944	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35898966.	NM_005989.4(AKR1D1):c.*1274A>G GRCh37: Chr7:137802682 GRCh38: Chr7:138117936	AKR1D1		Congenital bile acid synthesis defect 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35898867.	NM_005989.4(AKR1D1):c.*1270T>C GRCh37: Chr7:137802678 GRCh38: Chr7:138117932	AKR1D1		Congenital bile acid synthesis defect 2	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35898768.	NM_005989.4(AKR1D1):c.*1265A>G GRCh37: Chr7:137802673 GRCh38: Chr7:138117927	AKR1D1		Congenital bile acid synthesis defect 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35898669.	NM_005989.4(AKR1D1):c.*1219C>T GRCh37: Chr7:137802627 GRCh38: Chr7:138117881	AKR1D1		Congenital bile acid synthesis defect 2	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35898570.	NM_005989.4(AKR1D1):c.*1214A>G GRCh37: Chr7:137802622 GRCh38: Chr7:138117876	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35898471.	NM_005989.4(AKR1D1):c.*1199T>A GRCh37: Chr7:137802607 GRCh38: Chr7:138117861	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35898372.	NM_005989.4(AKR1D1):c.*1185G>A GRCh37: Chr7:137802593 GRCh38: Chr7:138117847	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35898273.	NM_005989.4(AKR1D1):c.*1173A>T GRCh37: Chr7:137802581 GRCh38: Chr7:138117835	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35898174.	NM_005989.4(AKR1D1):c.*1163T>C GRCh37: Chr7:137802571 GRCh38: Chr7:138117825	AKR1D1		Congenital bile acid synthesis defect 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35898075.	NM_005989.4(AKR1D1):c.*1153C>T GRCh37: Chr7:137802561 GRCh38: Chr7:138117815	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35897976.	NM_005989.4(AKR1D1):c.*1153C>G GRCh37: Chr7:137802561 GRCh38: Chr7:138117815	AKR1D1		Congenital bile acid synthesis defect 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35897877.	NM_005989.4(AKR1D1):c.*1151A>G GRCh37: Chr7:137802559 GRCh38: Chr7:138117813	AKR1D1		Congenital bile acid synthesis defect 2	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35897778.	NM_005989.4(AKR1D1):c.*1149A>C GRCh37: Chr7:137802557 GRCh38: Chr7:138117811	AKR1D1		Congenital bile acid synthesis defect 2	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35897679.	NM_005989.4(AKR1D1):c.*1139G>C GRCh37: Chr7:137802547 GRCh38: Chr7:138117801	AKR1D1		Congenital bile acid synthesis defect 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35897580.	NM_005989.4(AKR1D1):c.*1095T>C GRCh37: Chr7:137802503 GRCh38: Chr7:138117757	AKR1D1		Congenital bile acid synthesis defect 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35897481.	NM_005989.4(AKR1D1):c.*1093C>G GRCh37: Chr7:137802501 GRCh38: Chr7:138117755	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35897382.	NM_005989.4(AKR1D1):c.*1091C>T GRCh37: Chr7:137802499 GRCh38: Chr7:138117753	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35897283.	NM_005989.4(AKR1D1):c.*1085C>T GRCh37: Chr7:137802493 GRCh38: Chr7:138117747	AKR1D1		Congenital bile acid synthesis defect 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35897184.	NM_005989.4(AKR1D1):c.*1083T>C GRCh37: Chr7:137802491 GRCh38: Chr7:138117745	AKR1D1		Congenital bile acid synthesis defect 2	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 35897085.	NM_005989.4(AKR1D1):c.*1082G>C GRCh37: Chr7:137802490 GRCh38: Chr7:138117744	AKR1D1		Congenital bile acid synthesis defect 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35896986.	NM_005989.4(AKR1D1):c.*944T>C GRCh37: Chr7:137802352 GRCh38: Chr7:138117606	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35896887.	NM_005989.4(AKR1D1):c.*914C>T GRCh37: Chr7:137802322 GRCh38: Chr7:138117576	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35896788.	NM_005989.4(AKR1D1):c.*897T>C GRCh37: Chr7:137802305 GRCh38: Chr7:138117559	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35896689.	NM_005989.4(AKR1D1):c.*879T>C GRCh37: Chr7:137802287 GRCh38: Chr7:138117541	AKR1D1		Congenital bile acid synthesis defect 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35896590.	NM_005989.4(AKR1D1):c.*507G>A GRCh37: Chr7:137801915 GRCh38: Chr7:138117169	AKR1D1		Congenital bile acid synthesis defect 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35896491.	NM_005989.4(AKR1D1):c.*417A>G GRCh37: Chr7:137801825 GRCh38: Chr7:138117079	AKR1D1		Congenital bile acid synthesis defect 2	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35896392.	NM_005989.4(AKR1D1):c.*373G>A GRCh37: Chr7:137801781 GRCh38: Chr7:138117035	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35896293.	NM_005989.4(AKR1D1):c.*362A>C GRCh37: Chr7:137801770 GRCh38: Chr7:138117024	AKR1D1		Congenital bile acid synthesis defect 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35896194.	NM_005989.4(AKR1D1):c.*298A>G GRCh37: Chr7:137801706 GRCh38: Chr7:138116960	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35896095.	NM_005989.4(AKR1D1):c.*294C>A GRCh37: Chr7:137801702 GRCh38: Chr7:138116956	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35895996.	NM_005989.4(AKR1D1):c.*197G>T GRCh37: Chr7:137801605 GRCh38: Chr7:138116859	AKR1D1		Congenital bile acid synthesis defect 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35895897.	NM_005989.4(AKR1D1):c.*58G>C GRCh37: Chr7:137801466 GRCh38: Chr7:138116720	AKR1D1		Congenital bile acid synthesis defect 2	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35895798.	NM_005989.4(AKR1D1):c.*48C>T GRCh37: Chr7:137801456 GRCh38: Chr7:138116710	AKR1D1		Congenital bile acid synthesis defect 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35895699.	NM_005989.4(AKR1D1):c.*36C>T GRCh37: Chr7:137801444 GRCh38: Chr7:138116698	AKR1D1		Congenital bile acid synthesis defect 2, not provided	Benign (Nov 10, 2018)	criteria provided, multiple submitters, no conflicts
Select item 358955100.	NM_005989.4(AKR1D1):c.446C>T (p.Ala149Val) GRCh37: Chr7:137782679 GRCh38: Chr7:138097933	AKR1D1	A149V	Congenital bile acid synthesis defect 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter

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