ClinVar for MedGen (Select 42105) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25792061.	GRCh38/hg38 9q31.1(chr9:101426458-101431155)x0 GRCh38: Chr9:101426458-101431155	ALDOB, LOC130002261		Hereditary fructosuria	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 24317112.	NM_000035.4(ALDOB):c.76A>T (p.Asn26Tyr) GRCh37: Chr9:104193094 GRCh38: Chr9:101430812	ALDOB	N26Y	Hereditary fructosuria	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 24291303.	NC_000009.11:g.(104187910_104188836)_(104193180_104197990)del GRCh37: Chr9:104187910-104197990	ALDOB		Hereditary fructosuria	Pathogenic (Jan 6, 2023)	criteria provided, single submitter
Select item 24221644.	NC_000009.11:g.(?_104124710)_(104500261_?)del GRCh37: Chr9:104124710-104500261	ZNF189, ALDOB, BAAT, GRIN3A, MRPL50, PGAP4, PPP3R2, RNF20		Hereditary fructosuria	Pathogenic (Nov 17, 2021)	criteria provided, single submitter
Select item 22021515.	NM_000035.4(ALDOB):c.556A>G (p.Ile186Val) GRCh37: Chr9:104188905 GRCh38: Chr9:101426623	ALDOB	I186V	Hereditary fructosuria, Inborn genetic diseases	Uncertain significance (Nov 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21930196.	NM_000035.4(ALDOB):c.508G>A (p.Ala170Thr) GRCh37: Chr9:104189796 GRCh38: Chr9:101427514	ALDOB	A170T	Hereditary fructosuria	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 21917037.	NM_000035.4(ALDOB):c.627C>G (p.Val209=) GRCh37: Chr9:104187907 GRCh38: Chr9:101425625	ALDOB		Hereditary fructosuria	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 21819028.	NM_000035.4(ALDOB):c.78T>C (p.Asn26=) GRCh37: Chr9:104193092 GRCh38: Chr9:101430810	ALDOB		Hereditary fructosuria	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 21691529.	NM_000035.4(ALDOB):c.800-7C>T GRCh37: Chr9:104187331 GRCh38: Chr9:101425049	ALDOB		Hereditary fructosuria	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 216810010.	NM_000035.4(ALDOB):c.225G>A (p.Gly75=) GRCh37: Chr9:104192136 GRCh38: Chr9:101429854	ALDOB		Hereditary fructosuria	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 216604811.	NM_000035.4(ALDOB):c.1A>G (p.Met1Val) GRCh37: Chr9:104193169 GRCh38: Chr9:101430887	ALDOB	M1V	Hereditary fructosuria	Likely pathogenic (May 24, 2022)	criteria provided, single submitter
Select item 216192712.	NM_000035.4(ALDOB):c.723C>G (p.Thr241=) GRCh37: Chr9:104187811 GRCh38: Chr9:101425529	ALDOB		Hereditary fructosuria	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 216119313.	NM_000035.4(ALDOB):c.591T>C (p.His197=) GRCh37: Chr9:104188870 GRCh38: Chr9:101426588	ALDOB		Hereditary fructosuria	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 215829514.	NM_000035.4(ALDOB):c.6C>T (p.Ala2=) GRCh37: Chr9:104193164 GRCh38: Chr9:101430882	ALDOB		Hereditary fructosuria	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 215738115.	NM_000035.4(ALDOB):c.346C>T (p.Leu116Phe) GRCh37: Chr9:104190784 GRCh38: Chr9:101428502	ALDOB	L116F	Inborn genetic diseases, Hereditary fructosuria	Uncertain significance (May 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215557116.	NM_000035.4(ALDOB):c.999+10T>C GRCh37: Chr9:104187115 GRCh38: Chr9:101424833	ALDOB		Hereditary fructosuria	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 215466217.	NM_000035.4(ALDOB):c.341C>T (p.Ala114Val) GRCh37: Chr9:104190789 GRCh38: Chr9:101428507	ALDOB	A114V	Inborn genetic diseases, Hereditary fructosuria	Uncertain significance (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 213931418.	NM_000035.4(ALDOB):c.379+12G>T GRCh37: Chr9:104190739 GRCh38: Chr9:101428457	ALDOB		Hereditary fructosuria	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 213119319.	NM_000035.4(ALDOB):c.2T>G (p.Met1Arg) GRCh37: Chr9:104193168 GRCh38: Chr9:101430886	ALDOB	M1R	Hereditary fructosuria	Likely pathogenic (Apr 28, 2022)	criteria provided, single submitter
Select item 212506620.	NM_000035.4(ALDOB):c.891A>G (p.Lys297=) GRCh37: Chr9:104187233 GRCh38: Chr9:101424951	ALDOB		Hereditary fructosuria	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 211230221.	NM_000035.4(ALDOB):c.380-12T>C GRCh37: Chr9:104189936 GRCh38: Chr9:101427654	ALDOB		Hereditary fructosuria	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 211169922.	NM_000035.4(ALDOB):c.168C>T (p.Arg56=) GRCh37: Chr9:104192193 GRCh38: Chr9:101429911	ALDOB		Hereditary fructosuria	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 211094823.	NM_000035.4(ALDOB):c.324+9C>G GRCh37: Chr9:104192028 GRCh38: Chr9:101429746	ALDOB		Hereditary fructosuria	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 210773424.	NM_000035.4(ALDOB):c.113-2A>G GRCh37: Chr9:104192250 GRCh38: Chr9:101429968	ALDOB		Hereditary fructosuria	Likely pathogenic (Mar 9, 2022)	criteria provided, single submitter
Select item 210580925.	NM_000035.4(ALDOB):c.624+1G>C GRCh37: Chr9:104188836 GRCh38: Chr9:101426554	ALDOB		Hereditary fructosuria	Likely pathogenic (Mar 4, 2022)	criteria provided, single submitter
Select item 209871926.	NM_000035.4(ALDOB):c.855T>C (p.Asn285=) GRCh37: Chr9:104187269 GRCh38: Chr9:101424987	ALDOB		Hereditary fructosuria	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 209455527.	NM_000035.4(ALDOB):c.999+2T>C GRCh37: Chr9:104187123 GRCh38: Chr9:101424841	ALDOB		Hereditary fructosuria	Pathogenic (Feb 9, 2022)	criteria provided, single submitter
Select item 209268128.	NM_000035.4(ALDOB):c.934G>A (p.Ala312Thr) GRCh37: Chr9:104187190 GRCh38: Chr9:101424908	ALDOB	A312T	Hereditary fructosuria	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 208476229.	NM_000035.4(ALDOB):c.102T>C (p.Asp34=) GRCh37: Chr9:104193068 GRCh38: Chr9:101430786	ALDOB		Hereditary fructosuria	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 206920730.	NM_000035.4(ALDOB):c.799+1G>A GRCh37: Chr9:104187734 GRCh38: Chr9:101425452	ALDOB		Hereditary fructosuria	Likely pathogenic (Feb 20, 2022)	criteria provided, single submitter
Select item 203307431.	NM_000035.4(ALDOB):c.477A>G (p.Pro159=) GRCh37: Chr9:104189827 GRCh38: Chr9:101427545	ALDOB		Hereditary fructosuria	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 203065532.	NM_000035.4(ALDOB):c.786T>A (p.Pro262=) GRCh37: Chr9:104187748 GRCh38: Chr9:101425466	ALDOB		Hereditary fructosuria	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 202428833.	NM_000035.4(ALDOB):c.624+9T>G GRCh37: Chr9:104188828 GRCh38: Chr9:101426546	ALDOB		Hereditary fructosuria	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 202360934.	NM_000035.4(ALDOB):c.231G>A (p.Val77=) GRCh37: Chr9:104192130 GRCh38: Chr9:101429848	ALDOB		Hereditary fructosuria	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 202275635.	NM_000035.4(ALDOB):c.840C>T (p.Ala280=) GRCh37: Chr9:104187284 GRCh38: Chr9:101425002	ALDOB		Hereditary fructosuria	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 202105436.	NM_000035.4(ALDOB):c.669C>T (p.Tyr223=) GRCh37: Chr9:104187865 GRCh38: Chr9:101425583	ALDOB		Hereditary fructosuria	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 201889137.	NM_000035.4(ALDOB):c.1008C>T (p.Cys336=) GRCh37: Chr9:104184178 GRCh38: Chr9:101421896	ALDOB		Hereditary fructosuria	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 201641438.	NM_000035.4(ALDOB):c.642C>A (p.Tyr214Ter) GRCh37: Chr9:104187892 GRCh38: Chr9:101425610	ALDOB	Y214*	Hereditary fructosuria	Pathogenic (Jul 13, 2022)	criteria provided, single submitter
Select item 201045339.	NM_000035.4(ALDOB):c.72T>C (p.Val24=) GRCh37: Chr9:104193098 GRCh38: Chr9:101430816	ALDOB		Hereditary fructosuria	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 200856240.	NM_000035.4(ALDOB):c.96T>C (p.Ala32=) GRCh37: Chr9:104193074 GRCh38: Chr9:101430792	ALDOB		Hereditary fructosuria	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 200820341.	NM_000035.4(ALDOB):c.972C>G (p.Thr324=) GRCh37: Chr9:104187152 GRCh38: Chr9:101424870	ALDOB		Hereditary fructosuria	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 200416442.	NM_000035.4(ALDOB):c.1059C>T (p.Ser353=) GRCh37: Chr9:104184127 GRCh38: Chr9:101421845	ALDOB		Hereditary fructosuria	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 200089743.	NM_000035.4(ALDOB):c.627C>T (p.Val209=) GRCh37: Chr9:104187907 GRCh38: Chr9:101425625	ALDOB		Hereditary fructosuria	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 199502444.	NM_000035.4(ALDOB):c.705T>G (p.Thr235=) GRCh37: Chr9:104187829 GRCh38: Chr9:101425547	ALDOB		Hereditary fructosuria	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 199064545.	NM_000035.4(ALDOB):c.771C>T (p.Leu257=) GRCh37: Chr9:104187763 GRCh38: Chr9:101425481	ALDOB		Hereditary fructosuria	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 198770046.	NM_000035.4(ALDOB):c.113-10C>T GRCh37: Chr9:104192258 GRCh38: Chr9:101429976	ALDOB		Hereditary fructosuria	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 197729347.	NM_000035.4(ALDOB):c.27C>G (p.Thr9=) GRCh37: Chr9:104193143 GRCh38: Chr9:101430861	ALDOB		Hereditary fructosuria	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 197571448.	NM_000035.4(ALDOB):c.603C>T (p.His201=) GRCh37: Chr9:104188858 GRCh38: Chr9:101426576	ALDOB		Hereditary fructosuria	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 197487049.	NM_000035.4(ALDOB):c.594C>T (p.Asp198=) GRCh37: Chr9:104188867 GRCh38: Chr9:101426585	ALDOB		Hereditary fructosuria	Likely benign (May 31, 2022)	criteria provided, single submitter
Select item 195470350.	NM_000035.4(ALDOB):c.539del (p.Gln180fs) GRCh37: Chr9:104189765 GRCh38: Chr9:101427483	ALDOB	Q180fs	Hereditary fructosuria	Pathogenic (Sep 4, 2022)	criteria provided, single submitter
Select item 194669651.	NM_000035.4(ALDOB):c.774C>T (p.His258=) GRCh37: Chr9:104187760 GRCh38: Chr9:101425478	ALDOB		Hereditary fructosuria	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 192088352.	NM_000035.4(ALDOB):c.794T>C (p.Val265Ala) GRCh37: Chr9:104187740 GRCh38: Chr9:101425458	ALDOB	V265A	Hereditary fructosuria	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 191557753.	NM_000035.4(ALDOB):c.171G>C (p.Arg57=) GRCh37: Chr9:104192190 GRCh38: Chr9:101429908	ALDOB		Hereditary fructosuria	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 190134954.	NM_000035.4(ALDOB):c.113-4A>G GRCh37: Chr9:104192252 GRCh38: Chr9:101429970	ALDOB		Hereditary fructosuria	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 190110555.	NM_000035.4(ALDOB):c.756C>T (p.Ala252=) GRCh37: Chr9:104187778 GRCh38: Chr9:101425496	ALDOB		Hereditary fructosuria	Likely benign (Mar 6, 2022)	criteria provided, single submitter
Select item 189983656.	NM_000035.4(ALDOB):c.372C>G (p.Thr124=) GRCh37: Chr9:104190758 GRCh38: Chr9:101428476	ALDOB		Hereditary fructosuria	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 172669057.	NM_000035.4(ALDOB):c.227del (p.Gly76fs) GRCh37: Chr9:104192134 GRCh38: Chr9:101429852	ALDOB	G76fs	Hereditary fructosuria	Likely pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 172545058.	NM_000035.4(ALDOB):c.157G>T (p.Glu53Ter) GRCh37: Chr9:104192204 GRCh38: Chr9:101429922	ALDOB	E53*	Hereditary fructosuria	Likely pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 172449159.	NM_000035.4(ALDOB):c.724A>T (p.Lys242Ter) GRCh37: Chr9:104187810 GRCh38: Chr9:101425528	ALDOB	K242*	Hereditary fructosuria	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 172414260.	NM_000035.4(ALDOB):c.457_458del (p.Arg153fs) GRCh37: Chr9:104189846-104189847 GRCh38: Chr9:101427564-101427565	ALDOB	R153fs	Hereditary fructosuria	Likely pathogenic (Jan 27, 2022)	criteria provided, single submitter
Select item 168523961.	NM_000035.4(ALDOB):c.227G>T (p.Gly76Val) GRCh37: Chr9:104192134 GRCh38: Chr9:101429852	ALDOB	G76V	Hereditary fructosuria	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 167530762.	NM_000035.4(ALDOB):c.812T>C (p.Leu271Ser) GRCh37: Chr9:104187312 GRCh38: Chr9:101425030	ALDOB	L271S	Hereditary fructosuria	Pathogenic (Jan 1, 2022)	criteria provided, single submitter
Select item 167466163.	NM_000035.4(ALDOB):c.435T>C (p.Phe145=) GRCh37: Chr9:104189869 GRCh38: Chr9:101427587	ALDOB		Hereditary fructosuria	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 166117864.	NM_000035.4(ALDOB):c.112+10A>G GRCh37: Chr9:104193048 GRCh38: Chr9:101430766	ALDOB		Hereditary fructosuria	Likely benign (May 30, 2021)	criteria provided, single submitter
Select item 166106365.	NM_000035.4(ALDOB):c.96T>G (p.Ala32=) GRCh37: Chr9:104193074 GRCh38: Chr9:101430792	ALDOB		Hereditary fructosuria	Likely benign (Dec 12, 2020)	criteria provided, single submitter
Select item 165473266.	NM_000035.4(ALDOB):c.324+9C>T GRCh37: Chr9:104192028 GRCh38: Chr9:101429746	ALDOB		Hereditary fructosuria	Likely benign (Nov 22, 2020)	criteria provided, single submitter
Select item 165431367.	NM_000035.4(ALDOB):c.912G>A (p.Arg304=) GRCh37: Chr9:104187212 GRCh38: Chr9:101424930	ALDOB		Hereditary fructosuria	Likely benign (Nov 6, 2021)	criteria provided, single submitter
Select item 164649568.	NM_000035.4(ALDOB):c.972C>T (p.Thr324=) GRCh37: Chr9:104187152 GRCh38: Chr9:101424870	ALDOB		Hereditary fructosuria	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 163958769.	NM_000035.4(ALDOB):c.474T>C (p.Cys158=) GRCh37: Chr9:104189830 GRCh38: Chr9:101427548	ALDOB		Hereditary fructosuria	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 163913270.	NM_000035.4(ALDOB):c.379+9A>T GRCh37: Chr9:104190742 GRCh38: Chr9:101428460	ALDOB		Hereditary fructosuria	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 163136671.	NM_000035.4(ALDOB):c.51A>G (p.Ser17=) GRCh37: Chr9:104193119 GRCh38: Chr9:101430837	ALDOB		Hereditary fructosuria	Likely benign (Aug 2, 2021)	criteria provided, single submitter
Select item 163040372.	NM_000035.4(ALDOB):c.399G>A (p.Glu133=) GRCh37: Chr9:104189905 GRCh38: Chr9:101427623	ALDOB		Hereditary fructosuria	Likely benign (Nov 2, 2022)	criteria provided, single submitter
Select item 162938373.	NM_000035.4(ALDOB):c.201C>T (p.Asp67=) GRCh37: Chr9:104192160 GRCh38: Chr9:101429878	ALDOB		Hereditary fructosuria	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 162826674.	NM_000035.4(ALDOB):c.531C>T (p.Ile177=) GRCh37: Chr9:104189773 GRCh38: Chr9:101427491	ALDOB		Hereditary fructosuria	Likely benign (Sep 17, 2021)	criteria provided, single submitter
Select item 162526475.	NM_000035.4(ALDOB):c.264C>T (p.Asp88=) GRCh37: Chr9:104192097 GRCh38: Chr9:101429815	ALDOB		Hereditary fructosuria	Likely benign (Apr 29, 2021)	criteria provided, single submitter
Select item 162469076.	NM_000035.4(ALDOB):c.113-9C>T GRCh37: Chr9:104192257 GRCh38: Chr9:101429975	ALDOB		Hereditary fructosuria	Likely benign (Jul 8, 2021)	criteria provided, single submitter
Select item 162300577.	NM_000035.4(ALDOB):c.204T>C (p.Ser68=) GRCh37: Chr9:104192157 GRCh38: Chr9:101429875	ALDOB		Hereditary fructosuria	Likely benign (Dec 22, 2020)	criteria provided, single submitter
Select item 162293478.	NM_000035.4(ALDOB):c.541-5T>C GRCh37: Chr9:104188925 GRCh38: Chr9:101426643	ALDOB		Hereditary fructosuria	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 161753879.	NM_000035.4(ALDOB):c.315G>A (p.Val105=) GRCh37: Chr9:104192046 GRCh38: Chr9:101429764	ALDOB		Hereditary fructosuria	Likely benign (Jan 20, 2021)	criteria provided, single submitter
Select item 160558380.	NM_000035.4(ALDOB):c.351A>G (p.Ala117=) GRCh37: Chr9:104190779 GRCh38: Chr9:101428497	ALDOB		Hereditary fructosuria	Likely benign (Sep 18, 2021)	criteria provided, single submitter
Select item 160476481.	NM_000035.4(ALDOB):c.547C>T (p.Leu183=) GRCh37: Chr9:104188914 GRCh38: Chr9:101426632	ALDOB		Hereditary fructosuria	Likely benign (Sep 15, 2021)	criteria provided, single submitter
Select item 160317482.	NM_000035.4(ALDOB):c.441G>A (p.Lys147=) GRCh37: Chr9:104189863 GRCh38: Chr9:101427581	ALDOB		Hereditary fructosuria	Likely benign (Sep 6, 2021)	criteria provided, single submitter
Select item 159495183.	NM_000035.4(ALDOB):c.105A>G (p.Glu35=) GRCh37: Chr9:104193065 GRCh38: Chr9:101430783	ALDOB		Hereditary fructosuria	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 159040084.	NM_000035.4(ALDOB):c.277C>T (p.Leu93=) GRCh37: Chr9:104192084 GRCh38: Chr9:101429802	ALDOB		Hereditary fructosuria	Likely benign (Nov 5, 2021)	criteria provided, single submitter
Select item 156807385.	NM_000035.4(ALDOB):c.567A>G (p.Pro189=) GRCh37: Chr9:104188894 GRCh38: Chr9:101426612	ALDOB		Hereditary fructosuria	Likely benign (Jun 23, 2021)	criteria provided, single submitter
Select item 156675586.	NM_000035.4(ALDOB):c.625-9G>T GRCh37: Chr9:104187918 GRCh38: Chr9:101425636	ALDOB		Hereditary fructosuria	Likely benign (Jun 17, 2021)	criteria provided, single submitter
Select item 156451687.	NM_000035.4(ALDOB):c.948C>A (p.Gly316=) GRCh37: Chr9:104187176 GRCh38: Chr9:101424894	ALDOB		Hereditary fructosuria	Likely benign (Jun 6, 2021)	criteria provided, single submitter
Select item 156208188.	NM_000035.4(ALDOB):c.33G>A (p.Glu11=) GRCh37: Chr9:104193137 GRCh38: Chr9:101430855	ALDOB		Hereditary fructosuria	Likely benign (Feb 10, 2021)	criteria provided, single submitter
Select item 155986689.	NM_000035.4(ALDOB):c.800-8C>T GRCh37: Chr9:104187332 GRCh38: Chr9:101425050	ALDOB		Hereditary fructosuria	Likely benign (Dec 1, 2021)	criteria provided, single submitter
Select item 155841990.	NM_000035.4(ALDOB):c.147G>A (p.Val49=) GRCh37: Chr9:104192214 GRCh38: Chr9:101429932	ALDOB		Hereditary fructosuria	Likely benign (Dec 15, 2021)	criteria provided, single submitter
Select item 154513691.	NM_000035.4(ALDOB):c.113-8C>A GRCh37: Chr9:104192256 GRCh38: Chr9:101429974	ALDOB		Hereditary fructosuria	Likely benign (Nov 30, 2021)	criteria provided, single submitter
Select item 154318392.	NM_000035.4(ALDOB):c.426T>C (p.Gly142=) GRCh37: Chr9:104189878 GRCh38: Chr9:101427596	ALDOB		Hereditary fructosuria	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 154071393.	NM_000035.4(ALDOB):c.595C>T (p.Leu199=) GRCh37: Chr9:104188866 GRCh38: Chr9:101426584	ALDOB		Hereditary fructosuria	Likely benign (Mar 13, 2021)	criteria provided, single submitter
Select item 153979494.	NM_000035.4(ALDOB):c.800-10C>G GRCh37: Chr9:104187334 GRCh38: Chr9:101425052	ALDOB		Hereditary fructosuria	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 153748995.	NM_000035.4(ALDOB):c.780T>C (p.Thr260=) GRCh37: Chr9:104187754 GRCh38: Chr9:101425472	ALDOB		Hereditary fructosuria	Likely benign (Aug 18, 2021)	criteria provided, single submitter
Select item 153574696.	NM_000035.4(ALDOB):c.312G>T (p.Val104=) GRCh37: Chr9:104192049 GRCh38: Chr9:101429767	ALDOB		Hereditary fructosuria	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 152921197.	NM_000035.4(ALDOB):c.171G>A (p.Arg57=) GRCh37: Chr9:104192190 GRCh38: Chr9:101429908	ALDOB		Hereditary fructosuria	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 152568898.	NC_000009.11:g.(?_104184081)_(104184196_?)del GRCh37: Chr9:104184081-104184196	ALDOB		Hereditary fructosuria	Likely pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 151304199.	NM_000035.4(ALDOB):c.113-1G>C GRCh37: Chr9:104192249 GRCh38: Chr9:101429967	ALDOB		Hereditary fructosuria, ALDOB-related condition	Likely pathogenic (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1496198100.	NM_000035.4(ALDOB):c.505A>G (p.Asn169Asp) GRCh37: Chr9:104189799 GRCh38: Chr9:101427517	ALDOB	N169D	Hereditary fructosuria	Uncertain significance (Nov 22, 2021)	criteria provided, single submitter

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