ClinVar for MedGen (Select 5288) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25785201.	NM_000147.5(FUCA1):c.203C>T (p.Ser68Leu) GRCh37: Chr1:24194574 GRCh38: Chr1:23868084	FUCA1	S68L	Fucosidosis	Likely pathogenic	criteria provided, single submitter
Select item 24458302.	NM_000147.5(FUCA1):c.1289_1301del (p.Leu430fs) GRCh37: Chr1:24172305-24172317 GRCh38: Chr1:23845815-23845827	FUCA1	L430fs	Fucosidosis	Likely pathogenic (Feb 14, 2023)	criteria provided, single submitter
Select item 24403343.	NM_000147.5(FUCA1):c.579T>A (p.Tyr193Ter) GRCh37: Chr1:24189707 GRCh38: Chr1:23863217	FUCA1	Y193*	Fucosidosis	Likely pathogenic (May 26, 2022)	criteria provided, single submitter
Select item 24224674.	NC_000001.10:g.(?_24186268)_(24186413_?)dup GRCh37: Chr1:24186268-24186413	FUCA1		Fucosidosis	Likely pathogenic (Sep 17, 2022)	criteria provided, single submitter
Select item 24224665.	NC_000001.10:g.(?_24172205)_(24194776_?)dup GRCh37: Chr1:24172205-24194776	FUCA1		Fucosidosis	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 24224646.	NC_000001.10:g.(?_24191961)_(24194776_?)del GRCh37: Chr1:24191961-24194776	FUCA1		Fucosidosis	Pathogenic (Oct 21, 2021)	criteria provided, single submitter
Select item 24224637.	NC_000001.10:g.(?_24172205)_(24194776_?)del GRCh37: Chr1:24172205-24194776	FUCA1		Fucosidosis	Pathogenic (Oct 11, 2022)	criteria provided, single submitter
Select item 24219578.	NM_000147.5(FUCA1):c.423C>T (p.Gly141=) GRCh37: Chr1:24192082 GRCh38: Chr1:23865592	LOC126805661, FUCA1		Fucosidosis	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 24153089.	NM_000147.5(FUCA1):c.949G>A (p.Glu317Lys) GRCh37: Chr1:24180870 GRCh38: Chr1:23854380	FUCA1	E317K	Fucosidosis	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 241339410.	NM_000147.5(FUCA1):c.933A>G (p.Ala311=) GRCh37: Chr1:24180886 GRCh38: Chr1:23854396	FUCA1		Fucosidosis	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 220272911.	NM_000147.5(FUCA1):c.194G>A (p.Gly65Asp) GRCh37: Chr1:24194583 GRCh38: Chr1:23868093	FUCA1	G65D	Fucosidosis	Pathogenic (Sep 6, 2022)	criteria provided, single submitter
Select item 220272812.	NM_000147.5(FUCA1):c.459G>A (p.Trp153Ter) GRCh37: Chr1:24192046 GRCh38: Chr1:23865556	FUCA1, LOC126805661	W153*	Fucosidosis	Pathogenic (Jan 22, 2022)	criteria provided, single submitter
Select item 219870613.	NM_000147.5(FUCA1):c.70G>A (p.Ala24Thr) GRCh37: Chr1:24194707 GRCh38: Chr1:23868217	FUCA1	A24T	Fucosidosis	Uncertain significance (Nov 28, 2021)	criteria provided, single submitter
Select item 219752914.	NM_000147.5(FUCA1):c.93C>T (p.Ala31=) GRCh37: Chr1:24194684 GRCh38: Chr1:23868194	FUCA1		Fucosidosis	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 219406815.	NM_000147.5(FUCA1):c.920G>A (p.Arg307His) GRCh37: Chr1:24180899 GRCh38: Chr1:23854409	FUCA1	R307H	Fucosidosis	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 218592816.	NM_000147.5(FUCA1):c.1206G>A (p.Trp402Ter) GRCh37: Chr1:24172618 GRCh38: Chr1:23846128	FUCA1	W402*	Fucosidosis	Pathogenic (Oct 10, 2022)	criteria provided, single submitter
Select item 218553717.	NM_000147.5(FUCA1):c.1082G>T (p.Trp361Leu) GRCh37: Chr1:24175217 GRCh38: Chr1:23848727	FUCA1	W361L	Fucosidosis	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 218139418.	NM_000147.5(FUCA1):c.525-20G>A GRCh37: Chr1:24189781 GRCh38: Chr1:23863291	FUCA1		Fucosidosis	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 218137019.	NM_000147.5(FUCA1):c.389+18G>A GRCh37: Chr1:24194370 GRCh38: Chr1:23867880	FUCA1		Fucosidosis	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 217931520.	NM_000147.5(FUCA1):c.437C>G (p.Pro146Arg) GRCh37: Chr1:24192068 GRCh38: Chr1:23865578	FUCA1, LOC126805661	P146R	Fucosidosis	Uncertain significance (Jan 22, 2022)	criteria provided, single submitter
Select item 216562221.	NM_000147.5(FUCA1):c.905T>C (p.Phe302Ser) GRCh37: Chr1:24180914 GRCh38: Chr1:23854424	FUCA1	F302S	Fucosidosis	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 216437722.	NM_000147.5(FUCA1):c.16A>G (p.Met6Val) GRCh37: Chr1:24194761 GRCh38: Chr1:23868271	FUCA1	M6V	Fucosidosis	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 216169823.	NM_000147.5(FUCA1):c.55_60dup (p.Leu20_Phe21insLeuLeu) GRCh37: Chr1:24194716-24194717 GRCh38: Chr1:23868226-23868227	FUCA1		Fucosidosis	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 215687824.	NM_000147.5(FUCA1):c.8C>T (p.Ala3Val) GRCh37: Chr1:24194769 GRCh38: Chr1:23868279	FUCA1	A3V	Fucosidosis	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 215365625.	NM_000147.5(FUCA1):c.969+15G>A GRCh37: Chr1:24180835 GRCh38: Chr1:23854345	FUCA1		Fucosidosis	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 215090726.	NM_000147.5(FUCA1):c.863T>G (p.Leu288Trp) GRCh37: Chr1:24180956 GRCh38: Chr1:23854466	FUCA1	L288W	Fucosidosis	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 215022427.	NM_000147.5(FUCA1):c.969+5G>A GRCh37: Chr1:24180845 GRCh38: Chr1:23854355	FUCA1		Fucosidosis	Uncertain significance (Dec 28, 2021)	criteria provided, single submitter
Select item 214573428.	NM_000147.5(FUCA1):c.1102G>A (p.Ala368Thr) GRCh37: Chr1:24175197 GRCh38: Chr1:23848707	FUCA1	A368T	Fucosidosis	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 214266629.	NM_000147.5(FUCA1):c.969G>A (p.Ser323=) GRCh37: Chr1:24180850 GRCh38: Chr1:23854360	FUCA1		Fucosidosis	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 213799130.	NM_000147.5(FUCA1):c.1089C>T (p.Ser363=) GRCh37: Chr1:24175210 GRCh38: Chr1:23848720	FUCA1		Fucosidosis	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 213381931.	NM_000147.5(FUCA1):c.781G>A (p.Val261Ile) GRCh37: Chr1:24181038 GRCh38: Chr1:23854548	FUCA1	V261I	Fucosidosis	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 213030132.	NM_000147.5(FUCA1):c.266A>T (p.Tyr89Phe) GRCh37: Chr1:24194511 GRCh38: Chr1:23868021	FUCA1	Y89F	Fucosidosis	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 212865733.	NM_000147.5(FUCA1):c.385G>T (p.Ala129Ser) GRCh37: Chr1:24194392 GRCh38: Chr1:23867902	FUCA1	A129S	Fucosidosis	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 212521434.	NM_000147.5(FUCA1):c.655G>T (p.Val219Phe) GRCh37: Chr1:24189631 GRCh38: Chr1:23863141	FUCA1	V219F	Fucosidosis	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 211481535.	NM_000147.5(FUCA1):c.1237C>T (p.Pro413Ser) GRCh37: Chr1:24172587 GRCh38: Chr1:23846097	FUCA1	P413S	Fucosidosis, Inborn genetic diseases	Uncertain significance (Mar 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 211400636.	NM_000147.5(FUCA1):c.662+3A>G GRCh37: Chr1:24189621 GRCh38: Chr1:23863131	FUCA1		Fucosidosis	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 211352637.	NM_000147.5(FUCA1):c.1249T>G (p.Ser417Ala) GRCh37: Chr1:24172575 GRCh38: Chr1:23846085	FUCA1	S417A	Fucosidosis	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 211221838.	NM_000147.5(FUCA1):c.400T>G (p.Leu134Val) GRCh37: Chr1:24192105 GRCh38: Chr1:23865615	FUCA1, LOC126805661	L134V	Fucosidosis	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 209978239.	NM_000147.5(FUCA1):c.1183G>A (p.Val395Ile) GRCh37: Chr1:24172641 GRCh38: Chr1:23846151	FUCA1	V395I	Fucosidosis	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 209371540.	NM_000147.5(FUCA1):c.315C>T (p.Asp105=) GRCh37: Chr1:24194462 GRCh38: Chr1:23867972	FUCA1		Fucosidosis	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 208251141.	NM_000147.5(FUCA1):c.1123T>C (p.Trp375Arg) GRCh37: Chr1:24175176 GRCh38: Chr1:23848686	FUCA1	W375R	Fucosidosis	Uncertain significance (Jan 7, 2022)	criteria provided, single submitter
Select item 208212542.	NM_000147.5(FUCA1):c.917A>G (p.Tyr306Cys) GRCh37: Chr1:24180902 GRCh38: Chr1:23854412	FUCA1	Y306C	Fucosidosis	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 208127643.	NM_000147.5(FUCA1):c.908C>T (p.Ser303Phe) GRCh37: Chr1:24180911 GRCh38: Chr1:23854421	FUCA1	S303F	Fucosidosis	Uncertain significance (Jan 12, 2022)	criteria provided, single submitter
Select item 207987444.	NM_000147.5(FUCA1):c.1286A>G (p.Asp429Gly) GRCh37: Chr1:24172320 GRCh38: Chr1:23845830	FUCA1	D429G	Fucosidosis	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 207094945.	NM_000147.5(FUCA1):c.1260+14G>C GRCh37: Chr1:24172550 GRCh38: Chr1:23846060	FUCA1		Fucosidosis	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 206841046.	NM_000147.5(FUCA1):c.525-7G>C GRCh37: Chr1:24189768 GRCh38: Chr1:23863278	FUCA1		Fucosidosis	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 206135447.	NM_000147.5(FUCA1):c.46_48dup (p.Leu20_Phe21insLeu) GRCh37: Chr1:24194728-24194729 GRCh38: Chr1:23868238-23868239	FUCA1		Fucosidosis	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 205848648.	NM_000147.5(FUCA1):c.1226A>T (p.Asn409Ile) GRCh37: Chr1:24172598 GRCh38: Chr1:23846108	FUCA1	N409I	Fucosidosis	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 205820649.	NM_000147.5(FUCA1):c.5G>A (p.Arg2Gln) GRCh37: Chr1:24194772 GRCh38: Chr1:23868282	FUCA1	R2Q	Fucosidosis	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 205374950.	NM_000147.5(FUCA1):c.769-18T>C GRCh37: Chr1:24181068 GRCh38: Chr1:23854578	FUCA1		Fucosidosis	Likely benign (Nov 30, 2021)	criteria provided, single submitter
Select item 205368751.	NM_000147.5(FUCA1):c.1035A>T (p.Gly345=) GRCh37: Chr1:24175264 GRCh38: Chr1:23848774	FUCA1		Fucosidosis	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 205013352.	NM_000147.5(FUCA1):c.1192A>G (p.Ile398Val) GRCh37: Chr1:24172632 GRCh38: Chr1:23846142	FUCA1	I398V	Fucosidosis	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 204790053.	NM_000147.5(FUCA1):c.89G>C (p.Arg30Pro) GRCh37: Chr1:24194688 GRCh38: Chr1:23868198	FUCA1	R30P	Fucosidosis	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 204593754.	NM_000147.5(FUCA1):c.1016T>C (p.Ile339Thr) GRCh37: Chr1:24175283 GRCh38: Chr1:23848793	FUCA1	I339T	Fucosidosis, Inborn genetic diseases	Uncertain significance (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204592855.	NM_000147.5(FUCA1):c.422G>C (p.Gly141Ala) GRCh37: Chr1:24192083 GRCh38: Chr1:23865593	FUCA1, LOC126805661	G141A	Fucosidosis	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 204015056.	NM_000147.5(FUCA1):c.404C>T (p.Thr135Met) GRCh37: Chr1:24192101 GRCh38: Chr1:23865611	FUCA1, LOC126805661	T135M	Fucosidosis	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 202403057.	NM_000147.5(FUCA1):c.1320C>G (p.Leu440=) GRCh37: Chr1:24172286 GRCh38: Chr1:23845796	FUCA1		Fucosidosis	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 201813658.	NM_000147.5(FUCA1):c.970-18T>C GRCh37: Chr1:24175347 GRCh38: Chr1:23848857	FUCA1		Fucosidosis	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 201248159.	NM_000147.5(FUCA1):c.663-3C>T GRCh37: Chr1:24186396 GRCh38: Chr1:23859906	FUCA1		Fucosidosis	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 201197560.	NM_000147.5(FUCA1):c.162C>T (p.Asp54=) GRCh37: Chr1:24194615 GRCh38: Chr1:23868125	FUCA1		Fucosidosis	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 201064061.	NM_000147.5(FUCA1):c.126G>A (p.Pro42=) GRCh37: Chr1:24194651 GRCh38: Chr1:23868161	FUCA1		Fucosidosis	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 200429662.	NM_000147.5(FUCA1):c.971A>G (p.Glu324Gly) GRCh37: Chr1:24175328 GRCh38: Chr1:23848838	FUCA1	E324G	Fucosidosis	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 200195363.	NM_000147.5(FUCA1):c.606A>C (p.Lys202Asn) GRCh37: Chr1:24189680 GRCh38: Chr1:23863190	FUCA1	K202N	Fucosidosis	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 199635064.	NM_000147.5(FUCA1):c.72G>A (p.Ala24=) GRCh37: Chr1:24194705 GRCh38: Chr1:23868215	FUCA1		Fucosidosis	Likely benign (May 31, 2022)	criteria provided, single submitter
Select item 199337465.	NM_000147.5(FUCA1):c.1136G>C (p.Trp379Ser) GRCh37: Chr1:24175163 GRCh38: Chr1:23848673	FUCA1	W379S	Fucosidosis	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 198578566.	NM_000147.5(FUCA1):c.1214A>T (p.Asn405Ile) GRCh37: Chr1:24172610 GRCh38: Chr1:23846120	FUCA1	N405I	Fucosidosis	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 195789667.	NM_000147.5(FUCA1):c.998G>A (p.Gly333Asp) GRCh37: Chr1:24175301 GRCh38: Chr1:23848811	FUCA1	G333D	Fucosidosis	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 195462068.	NM_000147.5(FUCA1):c.775G>T (p.Val259Leu) GRCh37: Chr1:24181044 GRCh38: Chr1:23854554	FUCA1	V259L	Fucosidosis	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 194109469.	NM_000147.5(FUCA1):c.1048A>G (p.Ile350Val) GRCh37: Chr1:24175251 GRCh38: Chr1:23848761	FUCA1	I350V	Fucosidosis	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 191839970.	NM_000147.5(FUCA1):c.1180G>A (p.Ala394Thr) GRCh37: Chr1:24172644 GRCh38: Chr1:23846154	FUCA1	A394T	Fucosidosis	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 191814371.	NM_000147.5(FUCA1):c.54G>A (p.Leu18=) GRCh37: Chr1:24194723 GRCh38: Chr1:23868233	FUCA1		Fucosidosis	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 190298572.	NM_000147.5(FUCA1):c.45G>A (p.Leu15=) GRCh37: Chr1:24194732 GRCh38: Chr1:23868242	FUCA1		Fucosidosis	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 172721073.	NM_000147.5(FUCA1):c.577dup (p.Tyr193fs) GRCh37: Chr1:24189708-24189709 GRCh38: Chr1:23863218-23863219	FUCA1	Y193fs	Fucosidosis	Pathogenic (Oct 31, 2022)	criteria provided, single submitter
Select item 169849474.	NM_000147.5(FUCA1):c.485G>A (p.Arg162Gln) GRCh37: Chr1:24192020 GRCh38: Chr1:23865530	FUCA1, LOC126805661	R162Q	Fucosidosis, not specified	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167357475.	NM_000147.5(FUCA1):c.927C>T (p.Asp309=) GRCh37: Chr1:24180892 GRCh38: Chr1:23854402	FUCA1		Fucosidosis	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 166373176.	NM_000147.5(FUCA1):c.1272G>T (p.Leu424=) GRCh37: Chr1:24172334 GRCh38: Chr1:23845844	FUCA1		Fucosidosis	Likely benign (Jan 27, 2021)	criteria provided, single submitter
Select item 166054877.	NM_000147.5(FUCA1):c.541C>T (p.Leu181=) GRCh37: Chr1:24189745 GRCh38: Chr1:23863255	FUCA1		Fucosidosis	Likely benign (Jul 14, 2021)	criteria provided, single submitter
Select item 165688978.	NM_000147.5(FUCA1):c.1077G>A (p.Gly359=) GRCh37: Chr1:24175222 GRCh38: Chr1:23848732	FUCA1		Fucosidosis	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 165461879.	NM_000147.5(FUCA1):c.465C>T (p.Ser155=) GRCh37: Chr1:24192040 GRCh38: Chr1:23865550	FUCA1, LOC126805661		Fucosidosis	Likely benign (Apr 30, 2021)	criteria provided, single submitter
Select item 165269180.	NM_000147.5(FUCA1):c.662+8A>G GRCh37: Chr1:24189616 GRCh38: Chr1:23863126	FUCA1		Fucosidosis	Likely benign (Dec 3, 2021)	criteria provided, single submitter
Select item 164617981.	NM_000147.5(FUCA1):c.969+18T>A GRCh37: Chr1:24180832 GRCh38: Chr1:23854342	FUCA1		Fucosidosis	Benign (Oct 30, 2022)	criteria provided, single submitter
Select item 164399582.	NM_000147.5(FUCA1):c.639A>G (p.Pro213=) GRCh37: Chr1:24189647 GRCh38: Chr1:23863157	FUCA1		Fucosidosis	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 164104583.	NM_000147.5(FUCA1):c.969+11C>A GRCh37: Chr1:24180839 GRCh38: Chr1:23854349	FUCA1		Fucosidosis	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 164026284.	NM_000147.5(FUCA1):c.1160+9T>C GRCh37: Chr1:24175130 GRCh38: Chr1:23848640	FUCA1		Fucosidosis	Likely benign (Jan 14, 2022)	criteria provided, single submitter
Select item 163088685.	NM_000147.5(FUCA1):c.524+18G>T GRCh37: Chr1:24191963 GRCh38: Chr1:23865473	FUCA1, LOC126805661		Fucosidosis	Likely benign (Nov 14, 2021)	criteria provided, single submitter
Select item 162829786.	NM_000147.5(FUCA1):c.339C>T (p.Arg113=) GRCh37: Chr1:24194438 GRCh38: Chr1:23867948	FUCA1		Fucosidosis	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 162499487.	NM_000147.5(FUCA1):c.525-9_525-5del GRCh37: Chr1:24189766-24189770 GRCh38: Chr1:23863276-23863280	FUCA1		Fucosidosis	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 162065488.	NM_000147.5(FUCA1):c.1260+14G>A GRCh37: Chr1:24172550 GRCh38: Chr1:23846060	FUCA1		Fucosidosis	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 160524589.	NM_000147.5(FUCA1):c.39C>T (p.Pro13=) GRCh37: Chr1:24194738 GRCh38: Chr1:23868248	FUCA1		Fucosidosis	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 160158290.	NM_000147.5(FUCA1):c.389+14C>T GRCh37: Chr1:24194374 GRCh38: Chr1:23867884	FUCA1		Fucosidosis	Benign (Oct 31, 2022)	criteria provided, single submitter
Select item 159095991.	NM_000147.5(FUCA1):c.1260+14_1260+15insGACTGACTAA GRCh37: Chr1:24172549-24172550 GRCh38: Chr1:23846059-23846060	FUCA1		Fucosidosis	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 158898892.	NM_000147.5(FUCA1):c.1386G>C (p.Leu462=) GRCh37: Chr1:24172220 GRCh38: Chr1:23845730	FUCA1		Fucosidosis	Likely benign (Nov 23, 2021)	criteria provided, single submitter
Select item 158675993.	NM_000147.5(FUCA1):c.502T>C (p.Leu168=) GRCh37: Chr1:24192003 GRCh38: Chr1:23865513	FUCA1, LOC126805661		Fucosidosis	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 158350394.	NM_000147.5(FUCA1):c.390-20T>C GRCh37: Chr1:24192135 GRCh38: Chr1:23865645	FUCA1, LOC126805661		Fucosidosis	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 158186795.	NM_000147.5(FUCA1):c.6G>A (p.Arg2=) GRCh37: Chr1:24194771 GRCh38: Chr1:23868281	FUCA1		Fucosidosis	Likely benign (Sep 2, 2021)	criteria provided, single submitter
Select item 157989996.	NM_000147.5(FUCA1):c.1014C>T (p.Asn338=) GRCh37: Chr1:24175285 GRCh38: Chr1:23848795	FUCA1		Fucosidosis	Likely benign (Sep 26, 2021)	criteria provided, single submitter
Select item 157676797.	NM_000147.5(FUCA1):c.970-20A>G GRCh37: Chr1:24175349 GRCh38: Chr1:23848859	FUCA1		Fucosidosis	Likely benign (Jun 28, 2021)	criteria provided, single submitter
Select item 157544998.	NM_000147.5(FUCA1):c.294G>C (p.Pro98=) GRCh37: Chr1:24194483 GRCh38: Chr1:23867993	FUCA1		Fucosidosis	Likely benign (Nov 23, 2021)	criteria provided, single submitter
Select item 157418499.	NM_000147.5(FUCA1):c.933A>C (p.Ala311=) GRCh37: Chr1:24180886 GRCh38: Chr1:23854396	FUCA1		Fucosidosis	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 1573695100.	NM_000147.5(FUCA1):c.438G>A (p.Pro146=) GRCh37: Chr1:24192067 GRCh38: Chr1:23865577	FUCA1, LOC126805661		Fucosidosis	Likely benign (Feb 20, 2022)	criteria provided, single submitter

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