Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)	SNV Germline	Chr9:101427574	Pathogenic/Likely pathogenic	Hereditary fructosuria Condition: not provided See cases ALDOB-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA339810	rs_1800546	41 SubmittersRCV000000493 RCV000224056 RCV002251841 RCV003415603 RCV004018526
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)	SNV Germline	Chr9:101427498	Pathogenic	Hereditary fructosuria Condition: not provided ALDOB-related disorder Inborn genetic diseases See cases	Criteria Provided Multiple Submitters No Conflicts	CA339811	rs_76917243	23 SubmittersRCV000000494 RCV000352944 RCV003952332 RCV002512605 RCV002251842
NM_000035.4(ALDOB):c.720C>A (p.Cys240Ter)	SNV Germline	Chr9:101425532	Pathogenic/Likely pathogenic	Hereditary fructosuria	No Assertion Criteria Provided	CA114308	rs_118204426	2 SubmittersRCV000000497
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)	SNV Germline	Chr9:101421899	Pathogenic	Hereditary fructosuria Condition: not provided ALDOB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA339812	rs_78340951	21 SubmittersRCV000000498 RCV000723841 RCV003398398
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)	SNV Germline	Chr9:101430878	Pathogenic/Likely pathogenic	Hereditary fructosuria	Criteria Provided Multiple Submitters No Conflicts	CA114310	rs_118204428	6 SubmittersRCV000000500
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)	SNV Germline	Chr9:101429901	Pathogenic/Likely pathogenic	Hereditary fructosuria Condition: not provided Inborn genetic diseases See cases ALDOB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA339813	rs_118204429	15 SubmittersRCV000000501 RCV000760464 RCV002512606 RCV002251843 RCV003407248
NM_000035.4(ALDOB):c.625-1G>A	SNV Germline	Chr9:101425628	Pathogenic/Likely pathogenic	Hereditary fructosuria	No Assertion Criteria Provided		rs_1564077542	2 SubmittersRCV000000502
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)	SNV Germline	Chr11:22236206	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided ANO5-related disorder Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Miyoshi muscular dystrophy 3 Hereditary fructosuria Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA224418	rs_137854523	26 SubmittersRCV000002249 RCV000082853 RCV000369126 RCV000627782 RCV000762830 RCV000825558 RCV003993729 RCV003993730
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)	SNV Germline	Chr9:101421891	Pathogenic/Likely pathogenic	Hereditary fructosuria Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA199050	rs_77718928	15 SubmittersRCV000169047 RCV000598061
NM_000035.4(ALDOB):c.625-2A>G	SNV Germline	Chr9:101425629	Pathogenic/Likely pathogenic	Hereditary fructosuria	Criteria Provided Multiple Submitters No Conflicts	CA199078	rs_786204503	4 SubmittersRCV000169186
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter)	SNV Germline	Chr9:101426567	Pathogenic/Likely pathogenic	Hereditary fructosuria Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA199058	rs_370793608	7 SubmittersRCV000169110 RCV000723842
NM_000035.4(ALDOB):c.324G>A (p.Lys108=)	SNV Germline	Chr9:101429755	Pathogenic/Likely pathogenic	Hereditary fructosuria	Criteria Provided Multiple Submitters No Conflicts	CA199056	rs_750026492	5 SubmittersRCV000169107
NM_000035.4(ALDOB):c.324+1G>A	SNV Germline	Chr9:101429754	Pathogenic	Hereditary fructosuria	Criteria Provided Multiple Submitters No Conflicts	CA347812	rs_764826805	6 SubmittersRCV000202622
NM_000035.4(ALDOB):c.799+6G>A	SNV Germline	Chr9:101425447	Conflicting classifications of pathogenicity	not specified Hereditary fructosuria Condition: not provided	Criteria Provided Conflicting Classifications	CA5161474	rs_141888548	8 SubmittersRCV000246592 RCV000312799 RCV001705323
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu)	SNV Germline	Chr9:101429815	Conflicting classifications of pathogenicity	Hereditary fructosuria Condition: not provided	Criteria Provided Conflicting Classifications	CA5161686	rs_200585150	5 SubmittersRCV000674895 RCV000725650
NM_000035.4(ALDOB):c.759C>T (p.Thr253=)	SNV Germline	Chr9:101425493	Conflicting classifications of pathogenicity	Hereditary fructosuria not specified	Criteria Provided Conflicting Classifications	CA5161483	rs_146360505	5 SubmittersRCV000367438 RCV000372800
NM_000035.4(ALDOB):c.309C>T (p.Ile103=)	SNV Germline	Chr9:101429770	Conflicting classifications of pathogenicity	Hereditary fructosuria	Criteria Provided Conflicting Classifications	CA5161678	rs_747019279	2 SubmittersRCV000384465
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys)	SNV Germline	Chr9:101426636	Conflicting classifications of pathogenicity	Hereditary fructosuria Condition: not provided ALDOB-related disorder	Criteria Provided Conflicting Classifications	CA5161544	rs_35885472	5 SubmittersRCV000354676 RCV000732883 RCV003902421
NM_000035.4(ALDOB):c.375T>C (p.Ile125=)	SNV Germline	Chr9:101428473	Conflicting classifications of pathogenicity	Hereditary fructosuria	Criteria Provided Conflicting Classifications	CA10631893	rs_886063292	2 SubmittersRCV000265668
NM_000035.4(ALDOB):c.*12C>T	SNV Germline	Chr9:101421797	Conflicting classifications of pathogenicity	Hereditary fructosuria Condition: not provided	Criteria Provided Conflicting Classifications	CA5161378	rs_201867948	3 SubmittersRCV000343917 RCV001718785
NM_000035.4(ALDOB):c.243C>T (p.His81=)	SNV Germline	Chr9:101429836	Conflicting classifications of pathogenicity	Hereditary fructosuria	Criteria Provided Conflicting Classifications	CA5161690	rs_182003715	3 SubmittersRCV000271472
NM_000035.4(ALDOB):c.888G>A (p.Trp296Ter)	SNV Germline	Chr9:101424954	Pathogenic/Likely pathogenic	Hereditary fructosuria	Criteria Provided Multiple Submitters No Conflicts	CA16041283	rs_1057517133	3 SubmittersRCV000409326
NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter)	SNV Germline	Chr9:101427578	Pathogenic/Likely pathogenic	Hereditary fructosuria	Criteria Provided Multiple Submitters No Conflicts	CA16041285	rs_1057516902	4 SubmittersRCV000410511
NM_000035.4(ALDOB):c.379+1G>A	SNV Germline	Chr9:101428468	Pathogenic/Likely pathogenic	Hereditary fructosuria	Criteria Provided Multiple Submitters No Conflicts	CA16041287	rs_138121153	4 SubmittersRCV000409543
NM_000035.4(ALDOB):c.324+2T>A	SNV Germline	Chr9:101429753	Pathogenic/Likely pathogenic	Hereditary fructosuria	Criteria Provided Multiple Submitters No Conflicts	CA16041288	rs_1057516379	3 SubmittersRCV000409519
NM_000035.4(ALDOB):c.488C>T (p.Ala163Val)	SNV Germline	Chr9:101427534	Conflicting classifications of pathogenicity	Condition: not provided Hereditary fructosuria not specified	Criteria Provided Conflicting Classifications	CA5161586	rs_202210810	5 SubmittersRCV000420841 RCV000548672 RCV002271499
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln)	SNV Germline	Chr9:101424931	Conflicting classifications of pathogenicity	Hereditary fructosuria not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5161432	rs_145078268	12 SubmittersRCV000477962 RCV002222519 RCV001567261 RCV002526509
NM_000035.4(ALDOB):c.800-2A>C	SNV Germline	Chr9:101425044	Likely pathogenic	Condition: not provided Hereditary fructosuria	Criteria Provided Multiple Submitters No Conflicts	CA5161455	rs_199965465	5 SubmittersRCV000498914 RCV000667124
NM_000035.4(ALDOB):c.-11+1G>C	SNV Germline	Chr9:101435708	Pathogenic/Likely pathogenic	Hereditary fructosuria	Criteria Provided Multiple Submitters No Conflicts	CA196959550	rs_181639417	6 SubmittersRCV000589599
NM_000035.4(ALDOB):c.-214G>A	SNV Germline	Chr9:101435912	Conflicting classifications of pathogenicity	Condition: not provided Hereditary fructosuria	Criteria Provided Conflicting Classifications	CA196959621	rs_185972191	6 SubmittersRCV000597453 RCV001376734
NM_000035.4(ALDOB):c.525C>T (p.Ala175=)	SNV Germline	Chr9:101427497	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary fructosuria ALDOB-related disorder	Criteria Provided Conflicting Classifications	CA5161571	rs_144196914	6 SubmittersRCV000727347 RCV000591166 RCV001088507 RCV003962717
NM_000035.4(ALDOB):c.538C>A (p.Gln180Lys)	SNV Germline	Chr9:101427484	Conflicting classifications of pathogenicity	Condition: not provided Hereditary fructosuria ALDOB-related disorder	Criteria Provided Conflicting Classifications	CA5161565	rs_574635615	4 SubmittersRCV000595425 RCV001084554 RCV003962720
NM_000035.4(ALDOB):c.906T>C (p.Tyr302=)	SNV Germline	Chr9:101424936	Conflicting classifications of pathogenicity	Condition: not provided Hereditary fructosuria	Criteria Provided Conflicting Classifications	CA5161435	rs_138866018	3 SubmittersRCV000598202 RCV001087309
NM_000035.4(ALDOB):c.681C>T (p.Thr227=)	SNV Germline	Chr9:101425571	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary fructosuria ALDOB-related disorder	Criteria Provided Conflicting Classifications	CA5161503	rs_61757689	5 SubmittersRCV000604275 RCV000730768 RCV001083529 RCV003953074
NM_000035.4(ALDOB):c.325-1G>A	SNV Unknown	Chr9:101428524	Likely pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter		rs_1402966846	1 SubmittersRCV000674247
NM_000035.4(ALDOB):c.522C>G (p.Tyr174Ter)	SNV Germline	Chr9:101427500	Pathogenic	Hereditary fructosuria	Criteria Provided Multiple Submitters No Conflicts		rs_752902486	3 SubmittersRCV000671386
NM_000035.4(ALDOB):c.380-1G>A	SNV Unknown	Chr9:101427643	Likely pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter		rs_1554702666	2 SubmittersRCV000669245
NM_000035.4(ALDOB):c.380-2A>G	SNV Germline	Chr9:101427644	Likely pathogenic	Hereditary fructosuria	Criteria Provided Multiple Submitters No Conflicts		rs_1300461861	2 SubmittersRCV000672258
NM_000035.4(ALDOB):c.1095G>C (p.Ter365Tyr)	SNV Germline	Chr9:101421809	Conflicting classifications of pathogenicity	Hereditary fructosuria ALDOB-related disorder	Criteria Provided Conflicting Classifications		rs_900220679	2 SubmittersRCV000665616 RCV003403538
NM_000035.4(ALDOB):c.964G>T (p.Glu322Ter)	SNV Germline	Chr9:101424878	Pathogenic/Likely pathogenic	Hereditary fructosuria	Criteria Provided Multiple Submitters No Conflicts		rs_1172384674	2 SubmittersRCV000667914
NM_000035.4(ALDOB):c.941G>A (p.Trp314Ter)	SNV Unknown	Chr9:101424901	Likely pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter		rs_1554702325	1 SubmittersRCV000666743
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro)	SNV Germline	Chr9:101425566	Conflicting classifications of pathogenicity	Hereditary fructosuria	Criteria Provided Conflicting Classifications		rs_1554702433	3 SubmittersRCV000665845
NM_000035.4(ALDOB):c.465C>T (p.Ala155=)	SNV Germline	Chr9:101427557	Conflicting classifications of pathogenicity	Condition: not provided Hereditary fructosuria	Criteria Provided Conflicting Classifications		rs_569981883	2 SubmittersRCV000728701 RCV001504961
NM_000035.4(ALDOB):c.1014G>A (p.Ala338=)	SNV Germline	Chr9:101421890	Conflicting classifications of pathogenicity	Condition: not provided Hereditary fructosuria ALDOB-related disorder	Criteria Provided Conflicting Classifications		rs_546735701	3 SubmittersRCV000728974 RCV001079119 RCV003928220
NM_000035.4(ALDOB):c.954T>C (p.Ala318=)	SNV Germline	Chr9:101424888	Conflicting classifications of pathogenicity	Condition: not provided Hereditary fructosuria	Criteria Provided Conflicting Classifications		rs_572044496	3 SubmittersRCV000731014 RCV001167828
NM_000035.4(ALDOB):c.582T>C (p.Asp194=)	SNV Germline	Chr9:101426597	Conflicting classifications of pathogenicity	Condition: not provided Hereditary fructosuria ALDOB-related disorder	Criteria Provided Conflicting Classifications		rs_141988626	4 SubmittersRCV000732867 RCV001476870 RCV003955469
NM_000035.4(ALDOB):c.489T>A (p.Ala163=)	SNV Germline	Chr9:101427533	Conflicting classifications of pathogenicity	Condition: not provided Hereditary fructosuria	Criteria Provided Conflicting Classifications		rs_578048957	2 SubmittersRCV000733979 RCV001457885
NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter)	SNV Germline	Chr9:101426567	Pathogenic	Hereditary fructosuria	Criteria Provided Multiple Submitters No Conflicts		rs_370793608	5 SubmittersRCV000779689
NM_000035.4(ALDOB):c.849C>T (p.Asn283=)	SNV Germline	Chr9:101424993	Conflicting classifications of pathogenicity	Hereditary fructosuria	Criteria Provided Conflicting Classifications		rs_202062631	3 SubmittersRCV000910721
NM_000035.4(ALDOB):c.486C>T (p.Leu162=)	SNV Germline	Chr9:101427536	Conflicting classifications of pathogenicity	Hereditary fructosuria	Criteria Provided Conflicting Classifications		rs_773334784	3 SubmittersRCV000934352
NM_000035.4(ALDOB):c.282C>T (p.Phe94=)	SNV Germline	Chr9:101429797	Conflicting classifications of pathogenicity	Hereditary fructosuria ALDOB-related disorder	Criteria Provided Conflicting Classifications		rs_549682194	5 SubmittersRCV000936601 RCV003970603
NM_000035.4(ALDOB):c.178C>A (p.Arg60=)	SNV Germline	Chr9:101429901	Conflicting classifications of pathogenicity	Hereditary fructosuria	Criteria Provided Conflicting Classifications		rs_118204429	2 SubmittersRCV001167304
NM_000035.4(ALDOB):c.486C>G (p.Leu162=)	SNV Germline	Chr9:101427536	Conflicting classifications of pathogenicity	Hereditary fructosuria	Criteria Provided Conflicting Classifications		rs_773334784	2 SubmittersRCV001169704
NM_000035.4(ALDOB):c.466G>A (p.Asp156Asn)	SNV Germline	Chr9:101427556	Conflicting classifications of pathogenicity	Hereditary fructosuria Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_752810910	3 SubmittersRCV001169705 RCV002559626
NM_000035.4(ALDOB):c.270G>A (p.Gln90=)	SNV Germline	Chr9:101429809	Conflicting classifications of pathogenicity	Hereditary fructosuria	Criteria Provided Conflicting Classifications		rs_1176960115	2 SubmittersRCV001165721
NM_000035.4(ALDOB):c.2T>C (p.Met1Thr)	SNV Germline	Chr9:101430886	Likely pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter		rs_1270747182	2 SubmittersRCV001215627
NM_000035.4(ALDOB):c.113-1G>A	SNV Germline	Chr9:101429967	Likely pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter		rs_748663340	2 SubmittersRCV001216380
NM_000035.4(ALDOB):c.474T>A (p.Cys158Ter)	SNV Unknown	Chr9:101427548	Likely pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter		rs_1179941004	1 SubmittersRCV001263982
NM_000035.4(ALDOB):c.439A>T (p.Lys147Ter)	SNV Unknown	Chr9:101427583	Likely pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter		rs_1831150965	1 SubmittersRCV001263983
NM_000035.4(ALDOB):c.214C>T (p.Gln72Ter)	SNV Unknown	Chr9:101429865	Likely pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter		rs_1831191030	1 SubmittersRCV001263984
NM_000035.4(ALDOB):c.172C>T (p.Gln58Ter)	SNV Unknown	Chr9:101429907	Likely pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter		rs_1831192129	1 SubmittersRCV001263985
NM_000035.4(ALDOB):c.887G>A (p.Trp296Ter)	SNV Germline	Chr9:101424955	Pathogenic/Likely pathogenic	Hereditary fructosuria Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1249398093	3 SubmittersRCV001283814 RCV001552272
NM_000035.4(ALDOB):c.*516T>A	SNV Unknown	Chr9:101421293	Likely pathogenic	Hereditary fructosuria	No Assertion Criteria Provided		rs_1402343211	1 SubmittersRCV001376728
NM_000035.4(ALDOB):c.932T>C (p.Leu311Pro)	SNV Unknown	Chr9:101424910	Likely pathogenic	Hereditary fructosuria	No Assertion Criteria Provided		rs_2118342191	1 SubmittersRCV001376713
NM_000035.4(ALDOB):c.851T>C (p.Leu284Pro)	SNV Unknown	Chr9:101424991	Likely pathogenic	Hereditary fructosuria	No Assertion Criteria Provided		rs_2118342839	1 SubmittersRCV001376711
NM_000035.4(ALDOB):c.839C>A (p.Ala280Asp)	SNV Unknown	Chr9:101425003	Likely pathogenic	Hereditary fructosuria	No Assertion Criteria Provided		rs_1831103567	1 SubmittersRCV001376710
NM_000035.4(ALDOB):c.799+2T>A	SNV Unknown	Chr9:101425451	Likely pathogenic	Hereditary fructosuria	No Assertion Criteria Provided		rs_2118345193	1 SubmittersRCV001376732
NM_000035.4(ALDOB):c.770T>C (p.Leu257Pro)	SNV Germline	Chr9:101425482	Pathogenic	Hereditary fructosuria	Criteria Provided Multiple Submitters No Conflicts		rs_764701775	3 SubmittersRCV001376709
NM_000035.4(ALDOB):c.677G>A (p.Gly226Asp)	SNV Unknown	Chr9:101425575	Likely pathogenic	Hereditary fructosuria	No Assertion Criteria Provided		rs_2118346537	1 SubmittersRCV001376708
NM_000035.4(ALDOB):c.554C>G (p.Pro185Arg)	SNV Unknown	Chr9:101426625	Likely pathogenic	Hereditary fructosuria	No Assertion Criteria Provided		rs_2118350958	1 SubmittersRCV001376707
NM_000035.4(ALDOB):c.540+1G>C	SNV Unknown	Chr9:101427481	Likely pathogenic	Hereditary fructosuria	No Assertion Criteria Provided		rs_2118354551	1 SubmittersRCV001376731
NM_000035.4(ALDOB):c.532T>C (p.Cys178Arg)	SNV Unknown	Chr9:101427490	Likely pathogenic	Hereditary fructosuria	No Assertion Criteria Provided		rs_2118354587	1 SubmittersRCV001376706
NM_000035.4(ALDOB):c.469C>T (p.Gln157Ter)	SNV Germline	Chr9:101427553	Pathogenic	Hereditary fructosuria	Criteria Provided Multiple Submitters No Conflicts		rs_1831149748	3 SubmittersRCV001376705
NM_000035.4(ALDOB):c.403T>C (p.Cys135Arg)	SNV Unknown	Chr9:101427619	Pathogenic	Hereditary fructosuria	No Assertion Criteria Provided		rs_2118355570	1 SubmittersRCV001376704
NM_000035.4(ALDOB):c.331C>T (p.Gln111Ter)	SNV Germline	Chr9:101428517	Pathogenic	Hereditary fructosuria	Criteria Provided Multiple Submitters No Conflicts		rs_528914024	3 SubmittersRCV001376703
NM_000035.4(ALDOB):c.325-1G>C	SNV Unknown	Chr9:101428524	Likely pathogenic	Hereditary fructosuria	No Assertion Criteria Provided		rs_1402966846	1 SubmittersRCV001376730
NM_000035.4(ALDOB):c.170G>C (p.Arg57Pro)	SNV Unknown	Chr9:101429909	Likely pathogenic	Hereditary fructosuria	No Assertion Criteria Provided		rs_370761101	1 SubmittersRCV001376702
NM_000035.4(ALDOB):c.112+1G>A	SNV Unknown	Chr9:101430775	Likely pathogenic	Hereditary fructosuria	No Assertion Criteria Provided		rs_2118366070	1 SubmittersRCV001376729
NM_000035.4(ALDOB):c.379+1G>T	SNV Germline	Chr9:101428468	Pathogenic/Likely pathogenic	Hereditary fructosuria	Criteria Provided Multiple Submitters No Conflicts		rs_138121153	3 SubmittersRCV001377835
NM_000035.4(ALDOB):c.607C>T (p.Gln203Ter)	SNV Germline	Chr9:101426572	Pathogenic	Hereditary fructosuria	Criteria Provided Multiple Submitters No Conflicts		rs_868392830	2 SubmittersRCV001381253
NM_000035.4(ALDOB):c.325-1G>T	SNV Germline	Chr9:101428524	Pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter		rs_1402966846	1 SubmittersRCV001384210
NM_000035.4(ALDOB):c.34C>T (p.Gln12Ter)	SNV Germline	Chr9:101430854	Pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter		rs_190631679	1 SubmittersRCV001941654
NM_000035.4(ALDOB):c.113-1G>C	SNV Germline	Chr9:101429967	Pathogenic/Likely pathogenic	Hereditary fructosuria ALDOB-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_748663340	3 SubmittersRCV002023331 RCV003418338
NM_000035.4(ALDOB):c.255C>G (p.Tyr85Ter)	SNV Germline	Chr9:101429824	Pathogenic	Hereditary fructosuria Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_761063847	2 SubmittersRCV002007182 RCV002563614
NM_000035.4(ALDOB):c.61C>T (p.Gln21Ter)	SNV Germline	Chr9:101430827	Pathogenic/Likely pathogenic	Hereditary fructosuria	Criteria Provided Multiple Submitters No Conflicts		rs_2118366288	2 SubmittersRCV001920274
NM_000035.4(ALDOB):c.812T>C (p.Leu271Ser)	SNV Germline	Chr9:101425030	Pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter		rs_2118343224	1 SubmittersRCV002211036
NM_000035.4(ALDOB):c.227G>T (p.Gly76Val)	SNV Germline	Chr9:101429852	Likely pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter		rs_764779161	1 SubmittersRCV002248966
NM_000035.4(ALDOB):c.724A>T (p.Lys242Ter)	SNV Unknown	Chr9:101425528	Likely pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter			1 SubmittersRCV002309759
NM_000035.4(ALDOB):c.157G>T (p.Glu53Ter)	SNV Unknown	Chr9:101429922	Likely pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter			1 SubmittersRCV002309134
NM_000035.4(ALDOB):c.1A>G (p.Met1Val)	SNV Germline	Chr9:101430887	Likely pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter			1 SubmittersRCV003084680
NM_000035.4(ALDOB):c.508G>A (p.Ala170Thr)	SNV Germline	Chr9:101427514	Conflicting classifications of pathogenicity	Hereditary fructosuria ALDOB-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications			3 SubmittersRCV002643886 RCV003906543 RCV004070655
NM_000035.4(ALDOB):c.642C>A (p.Tyr214Ter)	SNV Germline	Chr9:101425610	Pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter			1 SubmittersRCV002851560
NM_000035.4(ALDOB):c.799+1G>A	SNV Germline	Chr9:101425452	Likely pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter			1 SubmittersRCV002961981
NM_000035.4(ALDOB):c.999+2T>C	SNV Germline	Chr9:101424841	Pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter			1 SubmittersRCV003010311
NM_000035.4(ALDOB):c.624+1G>C	SNV Germline	Chr9:101426554	Likely pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter			1 SubmittersRCV003015009
NM_000035.4(ALDOB):c.113-2A>G	SNV Germline	Chr9:101429968	Likely pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter			1 SubmittersRCV003033790
NM_000035.4(ALDOB):c.2T>G (p.Met1Arg)	SNV Germline	Chr9:101430886	Likely pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter			1 SubmittersRCV003048085
NM_000035.4(ALDOB):c.538C>T (p.Gln180Ter)	SNV Unknown	Chr9:101427484	Pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter			1 SubmittersRCV003460178
NM_000035.4(ALDOB):c.742C>T (p.Gln248Ter)	SNV Germline	Chr9:101425510	Pathogenic/Likely pathogenic	Hereditary fructosuria	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003468125
NM_000035.4(ALDOB):c.800-2A>G	SNV Unknown	Chr9:101425044	Likely pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter			1 SubmittersRCV003468129
NM_000035.4(ALDOB):c.606C>A (p.Cys202Ter)	SNV Unknown	Chr9:101426573	Likely pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter			1 SubmittersRCV003460199
NM_000035.4(ALDOB):c.624+1G>A	SNV Unknown	Chr9:101426554	Likely pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter			1 SubmittersRCV003460205
NM_000035.4(ALDOB):c.541-2A>G	SNV Unknown	Chr9:101426640	Likely pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter			1 SubmittersRCV003460212
NM_000035.4(ALDOB):c.799+2T>C	SNV Unknown	Chr9:101425451	Likely pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter			1 SubmittersRCV003461477
NM_000035.4(ALDOB):c.1A>T (p.Met1Leu)	SNV Germline	Chr9:101430887	Likely pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter			1 SubmittersRCV003599815
NM_000035.4(ALDOB):c.414C>A (p.Tyr138Ter)	SNV Germline	Chr9:101427608	Pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter			1 SubmittersRCV003599796
NM_000035.4(ALDOB):c.271G>T (p.Gly91Ter)	SNV Germline	Chr9:101429808	Pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter			1 SubmittersRCV003597587
NM_000035.4(ALDOB):c.732T>A (p.Tyr244Ter)	SNV Unknown	Chr9:101425520	Likely pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter			1 SubmittersRCV004575876
NM_000035.4(ALDOB):c.405T>A (p.Cys135Ter)	SNV Unknown	Chr9:101427617	Likely pathogenic	Hereditary fructosuria	Criteria Provided Single Submitter			1 SubmittersRCV004576390

NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)

SNV
Germline

Chr9:101427574

Pathogenic/Likely pathogenic

Hereditary fructosuria
Condition: not provided
See cases
ALDOB-related disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA339810

rs_1800546

41 SubmittersRCV000000493 RCV000224056 RCV002251841 RCV003415603 RCV004018526

NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)

SNV
Germline

Chr9:101427498

Pathogenic

Hereditary fructosuria
Condition: not provided
ALDOB-related disorder
Inborn genetic diseases
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA339811

rs_76917243

23 SubmittersRCV000000494 RCV000352944 RCV003952332 RCV002512605 RCV002251842

NM_000035.4(ALDOB):c.720C>A (p.Cys240Ter)

SNV
Germline

Chr9:101425532

Pathogenic/Likely pathogenic

Hereditary fructosuria

No Assertion Criteria Provided

CA114308

rs_118204426

2 SubmittersRCV000000497

NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)

SNV
Germline

Chr9:101421899

Pathogenic

Hereditary fructosuria
Condition: not provided
ALDOB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA339812

rs_78340951

21 SubmittersRCV000000498 RCV000723841 RCV003398398

NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)

SNV
Germline

Chr9:101430878

Pathogenic/Likely pathogenic

Hereditary fructosuria

Criteria Provided
Multiple Submitters
No Conflicts

CA114310

rs_118204428

6 SubmittersRCV000000500

NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)

SNV
Germline

Chr9:101429901

Pathogenic/Likely pathogenic

Hereditary fructosuria
Condition: not provided
Inborn genetic diseases
See cases
ALDOB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA339813

rs_118204429

15 SubmittersRCV000000501 RCV000760464 RCV002512606 RCV002251843 RCV003407248

NM_000035.4(ALDOB):c.625-1G>A

SNV
Germline

Chr9:101425628

Pathogenic/Likely pathogenic

Hereditary fructosuria

No Assertion Criteria Provided

rs_1564077542

2 SubmittersRCV000000502

NM_213599.3(ANO5):c.692G>T (p.Gly231Val)

SNV
Germline

Chr11:22236206

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
ANO5-related disorder
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3
Hereditary fructosuria
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA224418

rs_137854523

26 SubmittersRCV000002249 RCV000082853 RCV000369126 RCV000627782 RCV000762830 RCV000825558 RCV003993729 RCV003993730

NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)

SNV
Germline

Chr9:101421891

Pathogenic/Likely pathogenic

Hereditary fructosuria
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA199050

rs_77718928

15 SubmittersRCV000169047 RCV000598061

NM_000035.4(ALDOB):c.625-2A>G

SNV
Germline

Chr9:101425629

Pathogenic/Likely pathogenic

Hereditary fructosuria

Criteria Provided
Multiple Submitters
No Conflicts

CA199078

rs_786204503

4 SubmittersRCV000169186

NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter)

SNV
Germline

Chr9:101426567

Pathogenic/Likely pathogenic

Hereditary fructosuria
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA199058

rs_370793608

7 SubmittersRCV000169110 RCV000723842

NM_000035.4(ALDOB):c.324G>A (p.Lys108=)

SNV
Germline

Chr9:101429755

Pathogenic/Likely pathogenic

Hereditary fructosuria

Criteria Provided
Multiple Submitters
No Conflicts

CA199056

rs_750026492

5 SubmittersRCV000169107

NM_000035.4(ALDOB):c.324+1G>A

SNV
Germline

Chr9:101429754

Pathogenic

Hereditary fructosuria

Criteria Provided
Multiple Submitters
No Conflicts

CA347812

rs_764826805

6 SubmittersRCV000202622

NM_000035.4(ALDOB):c.799+6G>A

SNV
Germline

Chr9:101425447

Conflicting classifications of pathogenicity

not specified
Hereditary fructosuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5161474

rs_141888548

8 SubmittersRCV000246592 RCV000312799 RCV001705323

NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu)

SNV
Germline

Chr9:101429815

Conflicting classifications of pathogenicity

Hereditary fructosuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5161686

rs_200585150

5 SubmittersRCV000674895 RCV000725650

NM_000035.4(ALDOB):c.759C>T (p.Thr253=)

SNV
Germline

Chr9:101425493

Conflicting classifications of pathogenicity

Hereditary fructosuria
not specified

Criteria Provided
Conflicting Classifications

CA5161483

rs_146360505

5 SubmittersRCV000367438 RCV000372800

NM_000035.4(ALDOB):c.309C>T (p.Ile103=)

SNV
Germline

Chr9:101429770

Conflicting classifications of pathogenicity

Hereditary fructosuria

Criteria Provided
Conflicting Classifications

CA5161678

rs_747019279

2 SubmittersRCV000384465

NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys)

SNV
Germline

Chr9:101426636

Conflicting classifications of pathogenicity

Hereditary fructosuria
Condition: not provided
ALDOB-related disorder

Criteria Provided
Conflicting Classifications

CA5161544

rs_35885472

5 SubmittersRCV000354676 RCV000732883 RCV003902421

NM_000035.4(ALDOB):c.375T>C (p.Ile125=)

SNV
Germline

Chr9:101428473

Conflicting classifications of pathogenicity

Hereditary fructosuria

Criteria Provided
Conflicting Classifications

CA10631893

rs_886063292

2 SubmittersRCV000265668

NM_000035.4(ALDOB):c.*12C>T

SNV
Germline

Chr9:101421797

Conflicting classifications of pathogenicity

Hereditary fructosuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5161378

rs_201867948

3 SubmittersRCV000343917 RCV001718785

NM_000035.4(ALDOB):c.243C>T (p.His81=)

SNV
Germline

Chr9:101429836

Conflicting classifications of pathogenicity

Hereditary fructosuria

Criteria Provided
Conflicting Classifications

CA5161690

rs_182003715

3 SubmittersRCV000271472

NM_000035.4(ALDOB):c.888G>A (p.Trp296Ter)

SNV
Germline

Chr9:101424954

Pathogenic/Likely pathogenic

Hereditary fructosuria

Criteria Provided
Multiple Submitters
No Conflicts

CA16041283

rs_1057517133

3 SubmittersRCV000409326

NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter)

SNV
Germline

Chr9:101427578

Pathogenic/Likely pathogenic

Hereditary fructosuria

Criteria Provided
Multiple Submitters
No Conflicts

CA16041285

rs_1057516902

4 SubmittersRCV000410511

NM_000035.4(ALDOB):c.379+1G>A

SNV
Germline

Chr9:101428468

Pathogenic/Likely pathogenic

Hereditary fructosuria

Criteria Provided
Multiple Submitters
No Conflicts

CA16041287

rs_138121153

4 SubmittersRCV000409543

NM_000035.4(ALDOB):c.324+2T>A

SNV
Germline

Chr9:101429753

Pathogenic/Likely pathogenic

Hereditary fructosuria

Criteria Provided
Multiple Submitters
No Conflicts

CA16041288

rs_1057516379

3 SubmittersRCV000409519

NM_000035.4(ALDOB):c.488C>T (p.Ala163Val)

SNV
Germline

Chr9:101427534

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary fructosuria
not specified

Criteria Provided
Conflicting Classifications

CA5161586

rs_202210810

5 SubmittersRCV000420841 RCV000548672 RCV002271499

NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln)

SNV
Germline

Chr9:101424931

Conflicting classifications of pathogenicity

Hereditary fructosuria
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5161432

rs_145078268

12 SubmittersRCV000477962 RCV002222519 RCV001567261 RCV002526509

NM_000035.4(ALDOB):c.800-2A>C

SNV
Germline

Chr9:101425044

Likely pathogenic

Condition: not provided
Hereditary fructosuria

Criteria Provided
Multiple Submitters
No Conflicts

CA5161455

rs_199965465

5 SubmittersRCV000498914 RCV000667124

NM_000035.4(ALDOB):c.-11+1G>C

SNV
Germline

Chr9:101435708

Pathogenic/Likely pathogenic

Hereditary fructosuria

Criteria Provided
Multiple Submitters
No Conflicts

CA196959550

rs_181639417

6 SubmittersRCV000589599

NM_000035.4(ALDOB):c.-214G>A

SNV
Germline

Chr9:101435912

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary fructosuria

Criteria Provided
Conflicting Classifications

CA196959621

rs_185972191

6 SubmittersRCV000597453 RCV001376734

NM_000035.4(ALDOB):c.525C>T (p.Ala175=)

SNV
Germline

Chr9:101427497

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary fructosuria
ALDOB-related disorder

Criteria Provided
Conflicting Classifications

CA5161571

rs_144196914

6 SubmittersRCV000727347 RCV000591166 RCV001088507 RCV003962717

NM_000035.4(ALDOB):c.538C>A (p.Gln180Lys)

SNV
Germline

Chr9:101427484

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary fructosuria
ALDOB-related disorder

Criteria Provided
Conflicting Classifications

CA5161565

rs_574635615

4 SubmittersRCV000595425 RCV001084554 RCV003962720

NM_000035.4(ALDOB):c.906T>C (p.Tyr302=)

SNV
Germline

Chr9:101424936

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary fructosuria

Criteria Provided
Conflicting Classifications

CA5161435

rs_138866018

3 SubmittersRCV000598202 RCV001087309

NM_000035.4(ALDOB):c.681C>T (p.Thr227=)

SNV
Germline

Chr9:101425571

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary fructosuria
ALDOB-related disorder

Criteria Provided
Conflicting Classifications

CA5161503

rs_61757689

5 SubmittersRCV000604275 RCV000730768 RCV001083529 RCV003953074

NM_000035.4(ALDOB):c.325-1G>A

SNV
Unknown

Chr9:101428524

Likely pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

rs_1402966846

1 SubmittersRCV000674247

NM_000035.4(ALDOB):c.522C>G (p.Tyr174Ter)

SNV
Germline

Chr9:101427500

Pathogenic

Hereditary fructosuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_752902486

3 SubmittersRCV000671386

NM_000035.4(ALDOB):c.380-1G>A

SNV
Unknown

Chr9:101427643

Likely pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

rs_1554702666

2 SubmittersRCV000669245

NM_000035.4(ALDOB):c.380-2A>G

SNV
Germline

Chr9:101427644

Likely pathogenic

Hereditary fructosuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_1300461861

2 SubmittersRCV000672258

NM_000035.4(ALDOB):c.1095G>C (p.Ter365Tyr)

SNV
Germline

Chr9:101421809

Conflicting classifications of pathogenicity

Hereditary fructosuria
ALDOB-related disorder

Criteria Provided
Conflicting Classifications

rs_900220679

2 SubmittersRCV000665616 RCV003403538

NM_000035.4(ALDOB):c.964G>T (p.Glu322Ter)

SNV
Germline

Chr9:101424878

Pathogenic/Likely pathogenic

Hereditary fructosuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_1172384674

2 SubmittersRCV000667914

NM_000035.4(ALDOB):c.941G>A (p.Trp314Ter)

SNV
Unknown

Chr9:101424901

Likely pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

rs_1554702325

1 SubmittersRCV000666743

NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro)

SNV
Germline

Chr9:101425566

Conflicting classifications of pathogenicity

Hereditary fructosuria

Criteria Provided
Conflicting Classifications

rs_1554702433

3 SubmittersRCV000665845

NM_000035.4(ALDOB):c.465C>T (p.Ala155=)

SNV
Germline

Chr9:101427557

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary fructosuria

Criteria Provided
Conflicting Classifications

rs_569981883

2 SubmittersRCV000728701 RCV001504961

NM_000035.4(ALDOB):c.1014G>A (p.Ala338=)

SNV
Germline

Chr9:101421890

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary fructosuria
ALDOB-related disorder

Criteria Provided
Conflicting Classifications

rs_546735701

3 SubmittersRCV000728974 RCV001079119 RCV003928220

NM_000035.4(ALDOB):c.954T>C (p.Ala318=)

SNV
Germline

Chr9:101424888

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary fructosuria

Criteria Provided
Conflicting Classifications

rs_572044496

3 SubmittersRCV000731014 RCV001167828

NM_000035.4(ALDOB):c.582T>C (p.Asp194=)

SNV
Germline

Chr9:101426597

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary fructosuria
ALDOB-related disorder

Criteria Provided
Conflicting Classifications

rs_141988626

4 SubmittersRCV000732867 RCV001476870 RCV003955469

NM_000035.4(ALDOB):c.489T>A (p.Ala163=)

SNV
Germline

Chr9:101427533

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary fructosuria

Criteria Provided
Conflicting Classifications

rs_578048957

2 SubmittersRCV000733979 RCV001457885

NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter)

SNV
Germline

Chr9:101426567

Pathogenic

Hereditary fructosuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_370793608

5 SubmittersRCV000779689

NM_000035.4(ALDOB):c.849C>T (p.Asn283=)

SNV
Germline

Chr9:101424993

Conflicting classifications of pathogenicity

Hereditary fructosuria

Criteria Provided
Conflicting Classifications

rs_202062631

3 SubmittersRCV000910721

NM_000035.4(ALDOB):c.486C>T (p.Leu162=)

SNV
Germline

Chr9:101427536

Conflicting classifications of pathogenicity

Hereditary fructosuria

Criteria Provided
Conflicting Classifications

rs_773334784

3 SubmittersRCV000934352

NM_000035.4(ALDOB):c.282C>T (p.Phe94=)

SNV
Germline

Chr9:101429797

Conflicting classifications of pathogenicity

Hereditary fructosuria
ALDOB-related disorder

Criteria Provided
Conflicting Classifications

rs_549682194

5 SubmittersRCV000936601 RCV003970603

NM_000035.4(ALDOB):c.178C>A (p.Arg60=)

SNV
Germline

Chr9:101429901

Conflicting classifications of pathogenicity

Hereditary fructosuria

Criteria Provided
Conflicting Classifications

rs_118204429

2 SubmittersRCV001167304

NM_000035.4(ALDOB):c.486C>G (p.Leu162=)

SNV
Germline

Chr9:101427536

Conflicting classifications of pathogenicity

Hereditary fructosuria

Criteria Provided
Conflicting Classifications

rs_773334784

2 SubmittersRCV001169704

NM_000035.4(ALDOB):c.466G>A (p.Asp156Asn)

SNV
Germline

Chr9:101427556

Conflicting classifications of pathogenicity

Hereditary fructosuria
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_752810910

3 SubmittersRCV001169705 RCV002559626

NM_000035.4(ALDOB):c.270G>A (p.Gln90=)

SNV
Germline

Chr9:101429809

Conflicting classifications of pathogenicity

Hereditary fructosuria

Criteria Provided
Conflicting Classifications

rs_1176960115

2 SubmittersRCV001165721

NM_000035.4(ALDOB):c.2T>C (p.Met1Thr)

SNV
Germline

Chr9:101430886

Likely pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

rs_1270747182

2 SubmittersRCV001215627

NM_000035.4(ALDOB):c.113-1G>A

SNV
Germline

Chr9:101429967

Likely pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

rs_748663340

2 SubmittersRCV001216380

NM_000035.4(ALDOB):c.474T>A (p.Cys158Ter)

SNV
Unknown

Chr9:101427548

Likely pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

rs_1179941004

1 SubmittersRCV001263982

NM_000035.4(ALDOB):c.439A>T (p.Lys147Ter)

SNV
Unknown

Chr9:101427583

Likely pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

rs_1831150965

1 SubmittersRCV001263983

NM_000035.4(ALDOB):c.214C>T (p.Gln72Ter)

SNV
Unknown

Chr9:101429865

Likely pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

rs_1831191030

1 SubmittersRCV001263984

NM_000035.4(ALDOB):c.172C>T (p.Gln58Ter)

SNV
Unknown

Chr9:101429907

Likely pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

rs_1831192129

1 SubmittersRCV001263985

NM_000035.4(ALDOB):c.887G>A (p.Trp296Ter)

SNV
Germline

Chr9:101424955

Pathogenic/Likely pathogenic

Hereditary fructosuria
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1249398093

3 SubmittersRCV001283814 RCV001552272

NM_000035.4(ALDOB):c.*516T>A

SNV
Unknown

Chr9:101421293

Likely pathogenic

Hereditary fructosuria

No Assertion Criteria Provided

rs_1402343211

1 SubmittersRCV001376728

NM_000035.4(ALDOB):c.932T>C (p.Leu311Pro)

SNV
Unknown

Chr9:101424910

Likely pathogenic

Hereditary fructosuria

No Assertion Criteria Provided

rs_2118342191

1 SubmittersRCV001376713

NM_000035.4(ALDOB):c.851T>C (p.Leu284Pro)

SNV
Unknown

Chr9:101424991

Likely pathogenic

Hereditary fructosuria

No Assertion Criteria Provided

rs_2118342839

1 SubmittersRCV001376711

NM_000035.4(ALDOB):c.839C>A (p.Ala280Asp)

SNV
Unknown

Chr9:101425003

Likely pathogenic

Hereditary fructosuria

No Assertion Criteria Provided

rs_1831103567

1 SubmittersRCV001376710

NM_000035.4(ALDOB):c.799+2T>A

SNV
Unknown

Chr9:101425451

Likely pathogenic

Hereditary fructosuria

No Assertion Criteria Provided

rs_2118345193

1 SubmittersRCV001376732

NM_000035.4(ALDOB):c.770T>C (p.Leu257Pro)

SNV
Germline

Chr9:101425482

Pathogenic

Hereditary fructosuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_764701775

3 SubmittersRCV001376709

NM_000035.4(ALDOB):c.677G>A (p.Gly226Asp)

SNV
Unknown

Chr9:101425575

Likely pathogenic

Hereditary fructosuria

No Assertion Criteria Provided

rs_2118346537

1 SubmittersRCV001376708

NM_000035.4(ALDOB):c.554C>G (p.Pro185Arg)

SNV
Unknown

Chr9:101426625

Likely pathogenic

Hereditary fructosuria

No Assertion Criteria Provided

rs_2118350958

1 SubmittersRCV001376707

NM_000035.4(ALDOB):c.540+1G>C

SNV
Unknown

Chr9:101427481

Likely pathogenic

Hereditary fructosuria

No Assertion Criteria Provided

rs_2118354551

1 SubmittersRCV001376731

NM_000035.4(ALDOB):c.532T>C (p.Cys178Arg)

SNV
Unknown

Chr9:101427490

Likely pathogenic

Hereditary fructosuria

No Assertion Criteria Provided

rs_2118354587

1 SubmittersRCV001376706

NM_000035.4(ALDOB):c.469C>T (p.Gln157Ter)

SNV
Germline

Chr9:101427553

Pathogenic

Hereditary fructosuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_1831149748

3 SubmittersRCV001376705

NM_000035.4(ALDOB):c.403T>C (p.Cys135Arg)

SNV
Unknown

Chr9:101427619

Pathogenic

Hereditary fructosuria

No Assertion Criteria Provided

rs_2118355570

1 SubmittersRCV001376704

NM_000035.4(ALDOB):c.331C>T (p.Gln111Ter)

SNV
Germline

Chr9:101428517

Pathogenic

Hereditary fructosuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_528914024

3 SubmittersRCV001376703

NM_000035.4(ALDOB):c.325-1G>C

SNV
Unknown

Chr9:101428524

Likely pathogenic

Hereditary fructosuria

No Assertion Criteria Provided

rs_1402966846

1 SubmittersRCV001376730

NM_000035.4(ALDOB):c.170G>C (p.Arg57Pro)

SNV
Unknown

Chr9:101429909

Likely pathogenic

Hereditary fructosuria

No Assertion Criteria Provided

rs_370761101

1 SubmittersRCV001376702

NM_000035.4(ALDOB):c.112+1G>A

SNV
Unknown

Chr9:101430775

Likely pathogenic

Hereditary fructosuria

No Assertion Criteria Provided

rs_2118366070

1 SubmittersRCV001376729

NM_000035.4(ALDOB):c.379+1G>T

SNV
Germline

Chr9:101428468

Pathogenic/Likely pathogenic

Hereditary fructosuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_138121153

3 SubmittersRCV001377835

NM_000035.4(ALDOB):c.607C>T (p.Gln203Ter)

SNV
Germline

Chr9:101426572

Pathogenic

Hereditary fructosuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_868392830

2 SubmittersRCV001381253

NM_000035.4(ALDOB):c.325-1G>T

SNV
Germline

Chr9:101428524

Pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

rs_1402966846

1 SubmittersRCV001384210

NM_000035.4(ALDOB):c.34C>T (p.Gln12Ter)

SNV
Germline

Chr9:101430854

Pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

rs_190631679

1 SubmittersRCV001941654

NM_000035.4(ALDOB):c.113-1G>C

SNV
Germline

Chr9:101429967

Pathogenic/Likely pathogenic

Hereditary fructosuria
ALDOB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_748663340

3 SubmittersRCV002023331 RCV003418338

NM_000035.4(ALDOB):c.255C>G (p.Tyr85Ter)

SNV
Germline

Chr9:101429824

Pathogenic

Hereditary fructosuria
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_761063847

2 SubmittersRCV002007182 RCV002563614

NM_000035.4(ALDOB):c.61C>T (p.Gln21Ter)

SNV
Germline

Chr9:101430827

Pathogenic/Likely pathogenic

Hereditary fructosuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_2118366288

2 SubmittersRCV001920274

NM_000035.4(ALDOB):c.812T>C (p.Leu271Ser)

SNV
Germline

Chr9:101425030

Pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

rs_2118343224

1 SubmittersRCV002211036

NM_000035.4(ALDOB):c.227G>T (p.Gly76Val)

SNV
Germline

Chr9:101429852

Likely pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

rs_764779161

1 SubmittersRCV002248966

NM_000035.4(ALDOB):c.724A>T (p.Lys242Ter)

SNV
Unknown

Chr9:101425528

Likely pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

1 SubmittersRCV002309759

NM_000035.4(ALDOB):c.157G>T (p.Glu53Ter)

SNV
Unknown

Chr9:101429922

Likely pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

1 SubmittersRCV002309134

NM_000035.4(ALDOB):c.1A>G (p.Met1Val)

SNV
Germline

Chr9:101430887

Likely pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

1 SubmittersRCV003084680

NM_000035.4(ALDOB):c.508G>A (p.Ala170Thr)

SNV
Germline

Chr9:101427514

Conflicting classifications of pathogenicity

Hereditary fructosuria
ALDOB-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002643886 RCV003906543 RCV004070655

NM_000035.4(ALDOB):c.642C>A (p.Tyr214Ter)

SNV
Germline

Chr9:101425610

Pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

1 SubmittersRCV002851560

NM_000035.4(ALDOB):c.799+1G>A

SNV
Germline

Chr9:101425452

Likely pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

1 SubmittersRCV002961981

NM_000035.4(ALDOB):c.999+2T>C

SNV
Germline

Chr9:101424841

Pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

1 SubmittersRCV003010311

NM_000035.4(ALDOB):c.624+1G>C

SNV
Germline

Chr9:101426554

Likely pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

1 SubmittersRCV003015009

NM_000035.4(ALDOB):c.113-2A>G

SNV
Germline

Chr9:101429968

Likely pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

1 SubmittersRCV003033790

NM_000035.4(ALDOB):c.2T>G (p.Met1Arg)

SNV
Germline

Chr9:101430886

Likely pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

1 SubmittersRCV003048085

NM_000035.4(ALDOB):c.538C>T (p.Gln180Ter)

SNV
Unknown

Chr9:101427484

Pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460178

NM_000035.4(ALDOB):c.742C>T (p.Gln248Ter)

SNV
Germline

Chr9:101425510

Pathogenic/Likely pathogenic

Hereditary fructosuria

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003468125

NM_000035.4(ALDOB):c.800-2A>G

SNV
Unknown

Chr9:101425044

Likely pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

1 SubmittersRCV003468129

NM_000035.4(ALDOB):c.606C>A (p.Cys202Ter)

SNV
Unknown

Chr9:101426573

Likely pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460199

NM_000035.4(ALDOB):c.624+1G>A

SNV
Unknown

Chr9:101426554

Likely pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460205

NM_000035.4(ALDOB):c.541-2A>G

SNV
Unknown

Chr9:101426640

Likely pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

1 SubmittersRCV003460212

NM_000035.4(ALDOB):c.799+2T>C

SNV
Unknown

Chr9:101425451

Likely pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

1 SubmittersRCV003461477

NM_000035.4(ALDOB):c.1A>T (p.Met1Leu)

SNV
Germline

Chr9:101430887

Likely pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

1 SubmittersRCV003599815

NM_000035.4(ALDOB):c.414C>A (p.Tyr138Ter)

SNV
Germline

Chr9:101427608

Pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

1 SubmittersRCV003599796

NM_000035.4(ALDOB):c.271G>T (p.Gly91Ter)

SNV
Germline

Chr9:101429808

Pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

1 SubmittersRCV003597587

NM_000035.4(ALDOB):c.732T>A (p.Tyr244Ter)

SNV
Unknown

Chr9:101425520

Likely pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

1 SubmittersRCV004575876

NM_000035.4(ALDOB):c.405T>A (p.Cys135Ter)

SNV
Unknown

Chr9:101427617

Likely pathogenic

Hereditary fructosuria

Criteria Provided
Single Submitter

1 SubmittersRCV004576390