ClinVar for MedGen (Select 43108) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25010511.	NM_000181.4(GUSB):c.724+1G>T GRCh37: Chr7:65444385 GRCh38: Chr7:65979398	GUSB		Mucopolysaccharidosis type 7	Likely pathogenic (Mar 14, 2023)	criteria provided, single submitter
Select item 24406452.	NM_000181.4(GUSB):c.1476_1476+13del GRCh37: Chr7:65435256-65435269 GRCh38: Chr7:65970269-65970282	GUSB		Mucopolysaccharidosis type 7	Likely pathogenic (Apr 27, 2022)	criteria provided, single submitter
Select item 24406353.	NM_000181.4(GUSB):c.1783del (p.Glu595fs) GRCh37: Chr7:65429316 GRCh38: Chr7:65964329	GUSB	E376fs, E405fs, E449fs, E595fs	Mucopolysaccharidosis type 7	Likely pathogenic (Jan 17, 2022)	criteria provided, single submitter
Select item 24323514.	NM_000181.4(GUSB):c.1614G>C (p.Gln538His) GRCh37: Chr7:65432757 GRCh38: Chr7:65967770	GUSB, LOC126860055	Q319H, Q348H, Q392H, Q538H	Mucopolysaccharidosis type 7	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 24323495.	NM_000181.4(GUSB):c.875T>C (p.Leu292Pro) GRCh37: Chr7:65441039 GRCh38: Chr7:65976052	GUSB	L102P, L292P, L73P	Mucopolysaccharidosis type 7	Uncertain significance (Mar 23, 2020)	criteria provided, single submitter
Select item 24323486.	NM_000181.4(GUSB):c.229A>G (p.Met77Val) GRCh37: Chr7:65445378 GRCh38: Chr7:65980391	GUSB	M77V	Mucopolysaccharidosis type 7	Uncertain significance (Oct 13, 2021)	criteria provided, single submitter
Select item 24323477.	NM_000181.4(GUSB):c.388G>A (p.Ala130Thr) GRCh37: Chr7:65445219 GRCh38: Chr7:65980232	GUSB	A130T, C20Y, M1I	Mucopolysaccharidosis type 7	Uncertain significance (Jan 31, 2019)	criteria provided, single submitter
Select item 24323468.	NM_000181.4(GUSB):c.1468G>A (p.Asp490Asn) GRCh37: Chr7:65435277 GRCh38: Chr7:65970290	GUSB	D271N, D300N, D344N, D490N	Mucopolysaccharidosis type 7	Uncertain significance (Nov 11, 2021)	criteria provided, single submitter
Select item 24323459.	NM_000181.4(GUSB):c.1742T>C (p.Val581Ala) GRCh37: Chr7:65429357 GRCh38: Chr7:65964370	GUSB	V362A, V391A, V435A, V581A	Mucopolysaccharidosis type 7	Uncertain significance (Aug 6, 2020)	criteria provided, single submitter
Select item 243234410.	NM_000181.4(GUSB):c.430G>T (p.Gly144Trp) GRCh37: Chr7:65444865 GRCh38: Chr7:65979878	GUSB	G144W	Mucopolysaccharidosis type 7	Uncertain significance (Dec 27, 2019)	criteria provided, single submitter
Select item 243234311.	NM_000181.4(GUSB):c.1192C>T (p.Arg398Cys) GRCh37: Chr7:65439565 GRCh38: Chr7:65974578	GUSB	R179C, R208C, R252C, R398C	Mucopolysaccharidosis type 7	Uncertain significance (Jan 25, 2023)	criteria provided, single submitter
Select item 243234212.	NM_000181.4(GUSB):c.1232G>A (p.Gly411Asp) GRCh37: Chr7:65439525 GRCh38: Chr7:65974538	GUSB	G192D, G221D, G265D, G411D	Mucopolysaccharidosis type 7	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 243234113.	NM_000181.4(GUSB):c.1415C>A (p.Ser472Tyr) GRCh37: Chr7:65435330 GRCh38: Chr7:65970343	GUSB	S253Y, S282Y, S326Y, S472Y	Mucopolysaccharidosis type 7	Uncertain significance (Oct 6, 2020)	criteria provided, single submitter
Select item 243234014.	NM_000181.4(GUSB):c.1285G>A (p.Val429Met) GRCh37: Chr7:65439388 GRCh38: Chr7:65974401	GUSB	V210M, V239M, V283M, V429M	Mucopolysaccharidosis type 7	Uncertain significance (Oct 6, 2020)	criteria provided, single submitter
Select item 243233915.	NM_000181.4(GUSB):c.1883A>C (p.Lys628Thr) GRCh37: Chr7:65425957 GRCh38: Chr7:65960970	GUSB	K409T, K438T, K482T, K628T	Mucopolysaccharidosis type 7	Uncertain significance (Oct 16, 2020)	criteria provided, single submitter
Select item 243233816.	NM_000181.4(GUSB):c.582-3T>G GRCh37: Chr7:65444531 GRCh38: Chr7:65979544	GUSB		Mucopolysaccharidosis type 7	Uncertain significance (Apr 25, 2019)	criteria provided, single submitter
Select item 242137917.	NM_000181.4(GUSB):c.12G>A (p.Gly4=) GRCh37: Chr7:65447159 GRCh38: Chr7:65982172	GUSB		Mucopolysaccharidosis type 7	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 220236918.	NM_000181.4(GUSB):c.1792C>G (p.Pro598Ala) GRCh37: Chr7:65426048 GRCh38: Chr7:65961061	GUSB	P379A, P408A, P452A, P598A	Mucopolysaccharidosis type 7	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 220044819.	NM_000181.4(GUSB):c.1654-14G>T GRCh37: Chr7:65429459 GRCh38: Chr7:65964472	GUSB		Mucopolysaccharidosis type 7	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 219828220.	NM_000181.4(GUSB):c.1770C>T (p.Ala590=) GRCh37: Chr7:65429329 GRCh38: Chr7:65964342	GUSB		Mucopolysaccharidosis type 7	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 219762421.	NM_000181.4(GUSB):c.396+1G>A GRCh37: Chr7:65445210 GRCh38: Chr7:65980223	GUSB		Mucopolysaccharidosis type 7	Likely pathogenic (Jun 14, 2022)	criteria provided, single submitter
Select item 219686222.	NM_000181.4(GUSB):c.393C>T (p.Ile131=) GRCh37: Chr7:65445214 GRCh38: Chr7:65980227	GUSB	R22C, S3L	Mucopolysaccharidosis type 7	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 219679323.	NM_000181.4(GUSB):c.17C>A (p.Ala6Glu) GRCh37: Chr7:65447154 GRCh38: Chr7:65982167	GUSB	A6E	Mucopolysaccharidosis type 7	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 219537024.	NM_000181.4(GUSB):c.1430G>A (p.Arg477Gln) GRCh37: Chr7:65435315 GRCh38: Chr7:65970328	GUSB	R477Q, R258Q, R287Q, R331Q	Mucopolysaccharidosis type 7	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 219433525.	NM_000181.4(GUSB):c.1330G>A (p.Val444Met) GRCh37: Chr7:65439343 GRCh38: Chr7:65974356	GUSB	V254M, V225M, V298M, V444M	Mucopolysaccharidosis type 7	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 219064526.	NM_000181.4(GUSB):c.1581C>T (p.Asn527=) GRCh37: Chr7:65432790 GRCh38: Chr7:65967803	GUSB, LOC126860055		Mucopolysaccharidosis type 7	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 218960327.	NM_000181.4(GUSB):c.695C>T (p.Thr232Ile) GRCh37: Chr7:65444415 GRCh38: Chr7:65979428	GUSB	T42I, T232I	Mucopolysaccharidosis type 7	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 217007728.	NM_000181.4(GUSB):c.1886T>C (p.Ile629Thr) GRCh37: Chr7:65425954 GRCh38: Chr7:65960967	GUSB	I410T, I439T, I629T, I483T	Mucopolysaccharidosis type 7	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 216826129.	NM_000181.4(GUSB):c.725-11G>A GRCh37: Chr7:65441200 GRCh38: Chr7:65976213	GUSB		Mucopolysaccharidosis type 7	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 215307430.	NM_000181.4(GUSB):c.828C>T (p.Thr276=) GRCh37: Chr7:65441086 GRCh38: Chr7:65976099	GUSB		Mucopolysaccharidosis type 7	Likely benign (Dec 15, 2021)	criteria provided, single submitter
Select item 213654331.	NM_000181.4(GUSB):c.1820G>C (p.Gly607Ala) GRCh37: Chr7:65426020 GRCh38: Chr7:65961033	GUSB	G461A, G388A, G607A, G417A	Mucopolysaccharidosis type 7	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 213350632.	NM_000181.4(GUSB):c.1509C>T (p.Ser503=) GRCh37: Chr7:65432862 GRCh38: Chr7:65967875	GUSB, LOC126860055		Mucopolysaccharidosis type 7	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 213287033.	NM_000181.4(GUSB):c.420A>C (p.Leu140=) GRCh37: Chr7:65444875 GRCh38: Chr7:65979888	GUSB		Mucopolysaccharidosis type 7	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 213057934.	NM_000181.4(GUSB):c.1790-11T>C GRCh37: Chr7:65426061 GRCh38: Chr7:65961074	GUSB		Mucopolysaccharidosis type 7	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 212946335.	NM_000181.4(GUSB):c.582-7A>C GRCh37: Chr7:65444535 GRCh38: Chr7:65979548	GUSB		Mucopolysaccharidosis type 7	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 211825736.	NM_000181.4(GUSB):c.397-10G>C GRCh37: Chr7:65444908 GRCh38: Chr7:65979921	GUSB		Mucopolysaccharidosis type 7	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 211712237.	NM_000181.4(GUSB):c.604C>T (p.Gln202Ter) GRCh37: Chr7:65444506 GRCh38: Chr7:65979519	GUSB	Q202, Q12	Mucopolysaccharidosis type 7	Pathogenic (Mar 26, 2022)	criteria provided, single submitter
Select item 211687138.	NM_000181.4(GUSB):c.1382A>T (p.Tyr461Phe) GRCh37: Chr7:65439291 GRCh38: Chr7:65974304	GUSB	Y271F, Y315F, Y461F, Y242F	Mucopolysaccharidosis type 7	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 211140339.	NM_000181.4(GUSB):c.24del (p.Trp9fs) GRCh37: Chr7:65447147 GRCh38: Chr7:65982160	GUSB	W9fs	Mucopolysaccharidosis type 7	Pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 211095440.	NM_000181.4(GUSB):c.210+5G>A GRCh37: Chr7:65446956 GRCh38: Chr7:65981969	GUSB		Mucopolysaccharidosis type 7	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 210932941.	NM_000181.4(GUSB):c.1401C>T (p.Ile467=) GRCh37: Chr7:65435344 GRCh38: Chr7:65970357	GUSB		Mucopolysaccharidosis type 7	Likely benign (Dec 22, 2021)	criteria provided, single submitter
Select item 210742442.	NM_000181.4(GUSB):c.238C>G (p.Pro80Ala) GRCh37: Chr7:65445369 GRCh38: Chr7:65980382	GUSB	P80A	Mucopolysaccharidosis type 7	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 210730143.	NM_000181.4(GUSB):c.970G>A (p.Val324Met) GRCh37: Chr7:65440001 GRCh38: Chr7:65975014	GUSB	V178M, V324M, V105M, V134M	Mucopolysaccharidosis type 7	Uncertain significance (Mar 6, 2022)	criteria provided, single submitter
Select item 210505144.	NM_000181.4(GUSB):c.781C>G (p.Arg261Gly) GRCh37: Chr7:65441133 GRCh38: Chr7:65976146	GUSB	R71G, R261G, R42G	Mucopolysaccharidosis type 7	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 210492445.	NM_000181.4(GUSB):c.1877A>G (p.Tyr626Cys) GRCh37: Chr7:65425963 GRCh38: Chr7:65960976	GUSB	Y407C, Y436C, Y626C, Y480C	Mucopolysaccharidosis type 7	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 210428346.	NM_000181.4(GUSB):c.1905T>C (p.Tyr635=) GRCh37: Chr7:65425935 GRCh38: Chr7:65960948	GUSB		Mucopolysaccharidosis type 7	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 209697247.	NM_000181.4(GUSB):c.560_581+13del GRCh37: Chr7:65444701-65444735 GRCh38: Chr7:65979714-65979748	GUSB		Mucopolysaccharidosis type 7	Likely pathogenic (Feb 13, 2022)	criteria provided, single submitter
Select item 209411048.	NM_000181.4(GUSB):c.582-15G>A GRCh37: Chr7:65444543 GRCh38: Chr7:65979556	GUSB		Mucopolysaccharidosis type 7	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 209309349.	NM_000181.4(GUSB):c.1167A>C (p.Ala389=) GRCh37: Chr7:65439590 GRCh38: Chr7:65974603	GUSB		Mucopolysaccharidosis type 7	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 209303650.	NM_000181.4(GUSB):c.953A>G (p.Asp318Gly) GRCh37: Chr7:65440018 GRCh38: Chr7:65975031	GUSB	D128G, D172G, D318G, D99G	Mucopolysaccharidosis type 7	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 209151151.	NM_000181.4(GUSB):c.1273C>A (p.His425Asn) GRCh37: Chr7:65439400 GRCh38: Chr7:65974413	GUSB	H206N, H279N, H425N, H235N	Mucopolysaccharidosis type 7	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 208730452.	NM_000181.4(GUSB):c.1703A>G (p.Gln568Arg) GRCh37: Chr7:65429396 GRCh38: Chr7:65964409	GUSB	Q349R, Q568R, Q378R, Q422R	Mucopolysaccharidosis type 7	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 208707753.	NM_000181.4(GUSB):c.932dup (p.Ser312fs) GRCh37: Chr7:65440038-65440039 GRCh38: Chr7:65975051-65975052	GUSB	S122fs, S312fs, S93fs, S166fs	Mucopolysaccharidosis type 7	Pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 208483554.	NM_000181.4(GUSB):c.303C>T (p.Tyr101=) GRCh37: Chr7:65445304 GRCh38: Chr7:65980317	GUSB		Mucopolysaccharidosis type 7	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 208376555.	NM_000181.4(GUSB):c.396+8C>T GRCh37: Chr7:65445203 GRCh38: Chr7:65980216	GUSB		Mucopolysaccharidosis type 7	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 208141656.	NM_000181.4(GUSB):c.1227C>T (p.Gly409=) GRCh37: Chr7:65439530 GRCh38: Chr7:65974543	GUSB		Mucopolysaccharidosis type 7	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 207423757.	NM_000181.4(GUSB):c.979C>T (p.Arg327Cys) GRCh37: Chr7:65439992 GRCh38: Chr7:65975005	GUSB	R137C, R181C, R327C, R108C	Mucopolysaccharidosis type 7	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 207356858.	NM_000181.4(GUSB):c.1945C>T (p.Leu649=) GRCh37: Chr7:65425895 GRCh38: Chr7:65960908	GUSB		Mucopolysaccharidosis type 7	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 207175059.	NM_000181.4(GUSB):c.411C>T (p.Val137=) GRCh37: Chr7:65444884 GRCh38: Chr7:65979897	GUSB		Mucopolysaccharidosis type 7	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 207120660.	NM_000181.4(GUSB):c.812C>T (p.Ala271Val) GRCh37: Chr7:65441102 GRCh38: Chr7:65976115	GUSB	A271V, A81V, A52V	Mucopolysaccharidosis type 7	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 207105161.	NM_000181.4(GUSB):c.1829C>T (p.Thr610Ile) GRCh37: Chr7:65426011 GRCh38: Chr7:65961024	GUSB	T610I, T464I, T391I, T420I	Mucopolysaccharidosis type 7	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 206999862.	NM_000181.4(GUSB):c.1527C>A (p.His509Gln) GRCh37: Chr7:65432844 GRCh38: Chr7:65967857	GUSB, LOC126860055	H363Q, H290Q, H319Q, H509Q	not provided, Mucopolysaccharidosis type 7, Inborn genetic diseases	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206960263.	NM_000181.4(GUSB):c.1244+19C>T GRCh37: Chr7:65439494 GRCh38: Chr7:65974507	GUSB		Mucopolysaccharidosis type 7	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 206422564.	NM_000181.4(GUSB):c.1654-9G>A GRCh37: Chr7:65429454 GRCh38: Chr7:65964467	GUSB		Mucopolysaccharidosis type 7	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 206347265.	NM_000181.4(GUSB):c.429G>T (p.Glu143Asp) GRCh37: Chr7:65444866 GRCh38: Chr7:65979879	GUSB	E143D	Mucopolysaccharidosis type 7	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 206206766.	NM_000181.4(GUSB):c.185A>C (p.Gln62Pro) GRCh37: Chr7:65446986 GRCh38: Chr7:65981999	GUSB	Q62P	Mucopolysaccharidosis type 7	Uncertain significance (Dec 28, 2021)	criteria provided, single submitter
Select item 206103267.	NM_000181.4(GUSB):c.808G>A (p.Val270Met) GRCh37: Chr7:65441106 GRCh38: Chr7:65976119	GUSB	V80M, V270M, V51M	Mucopolysaccharidosis type 7	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 206022368.	NM_000181.4(GUSB):c.812C>A (p.Ala271Glu) GRCh37: Chr7:65441102 GRCh38: Chr7:65976115	GUSB	A271E, A52E, A81E	Mucopolysaccharidosis type 7	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 205988369.	NM_000181.4(GUSB):c.1476+13G>T GRCh37: Chr7:65435256 GRCh38: Chr7:65970269	GUSB		Mucopolysaccharidosis type 7	Likely benign (Apr 13, 2022)	criteria provided, single submitter
Select item 205536570.	NM_000181.4(GUSB):c.464_475del (p.Asn155_Val159delinsMet) GRCh37: Chr7:65444820-65444831 GRCh38: Chr7:65979833-65979844	GUSB		Mucopolysaccharidosis type 7	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 205153271.	NM_000181.4(GUSB):c.112T>C (p.Cys38Arg) GRCh37: Chr7:65447059 GRCh38: Chr7:65982072	GUSB	C38R	Mucopolysaccharidosis type 7	Uncertain significance (Feb 26, 2022)	criteria provided, single submitter
Select item 205098072.	NM_000181.4(GUSB):c.1245-19C>A GRCh37: Chr7:65439447 GRCh38: Chr7:65974460	GUSB		Mucopolysaccharidosis type 7	Likely benign (Dec 21, 2021)	criteria provided, single submitter
Select item 204898673.	NM_000181.4(GUSB):c.1350C>T (p.Asn450=) GRCh37: Chr7:65439323 GRCh38: Chr7:65974336	GUSB		Mucopolysaccharidosis type 7	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 204807774.	NM_000181.4(GUSB):c.210+5G>C GRCh37: Chr7:65446956 GRCh38: Chr7:65981969	GUSB		Mucopolysaccharidosis type 7	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 204591775.	NM_000181.4(GUSB):c.738C>G (p.Tyr246Ter) GRCh37: Chr7:65441176 GRCh38: Chr7:65976189	GUSB	Y56, Y246, Y27*	Mucopolysaccharidosis type 7	Pathogenic (Aug 12, 2022)	criteria provided, single submitter
Select item 204590976.	NM_000181.4(GUSB):c.6C>G (p.Ala2=) GRCh37: Chr7:65447165 GRCh38: Chr7:65982178	GUSB		Mucopolysaccharidosis type 7	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 204531277.	NM_000181.4(GUSB):c.1533C>T (p.Tyr511=) GRCh37: Chr7:65432838 GRCh38: Chr7:65967851	GUSB, LOC126860055		Mucopolysaccharidosis type 7	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 204261778.	NM_000181.4(GUSB):c.14C>T (p.Ser5Leu) GRCh37: Chr7:65447157 GRCh38: Chr7:65982170	GUSB	S5L	Mucopolysaccharidosis type 7	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 204168979.	NM_000181.4(GUSB):c.245G>A (p.Ser82Asn) GRCh37: Chr7:65445362 GRCh38: Chr7:65980375	GUSB	S82N	Mucopolysaccharidosis type 7	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 204133880.	NM_000181.4(GUSB):c.251A>G (p.Asn84Ser) GRCh37: Chr7:65445356 GRCh38: Chr7:65980369	GUSB	N84S	Mucopolysaccharidosis type 7	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 204126081.	NM_000181.4(GUSB):c.1391+5G>A GRCh37: Chr7:65439277 GRCh38: Chr7:65974290	GUSB		Mucopolysaccharidosis type 7	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 204116182.	NM_000181.4(GUSB):c.417G>A (p.Thr139=) GRCh37: Chr7:65444878 GRCh38: Chr7:65979891	GUSB		Mucopolysaccharidosis type 7	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 203992083.	NM_000181.4(GUSB):c.10G>A (p.Gly4Arg) GRCh37: Chr7:65447161 GRCh38: Chr7:65982174	GUSB	G4R	Mucopolysaccharidosis type 7	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 203815184.	NM_000181.4(GUSB):c.1341T>C (p.Ser447=) GRCh37: Chr7:65439332 GRCh38: Chr7:65974345	GUSB		Mucopolysaccharidosis type 7	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 201029985.	NM_000181.4(GUSB):c.78G>T (p.Gly26=) GRCh37: Chr7:65447093 GRCh38: Chr7:65982106	GUSB		Mucopolysaccharidosis type 7	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 200922086.	NM_000181.4(GUSB):c.465C>G (p.Asn155Lys) GRCh37: Chr7:65444830 GRCh38: Chr7:65979843	GUSB	N155K	Mucopolysaccharidosis type 7	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 199164887.	NM_000181.4(GUSB):c.383C>T (p.Ser128Phe) GRCh37: Chr7:65445224 GRCh38: Chr7:65980237	GUSB	S128F	Mucopolysaccharidosis type 7	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 198693988.	NM_000181.4(GUSB):c.570T>C (p.Thr190=) GRCh37: Chr7:65444725 GRCh38: Chr7:65979738	GUSB		Mucopolysaccharidosis type 7	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 198372189.	NM_000181.4(GUSB):c.582-19C>G GRCh37: Chr7:65444547 GRCh38: Chr7:65979560	GUSB		Mucopolysaccharidosis type 7	Likely benign (Apr 22, 2022)	criteria provided, single submitter
Select item 197598190.	NM_000181.4(GUSB):c.366G>A (p.Arg122=) GRCh37: Chr7:65445241 GRCh38: Chr7:65980254	GUSB	D13N	Mucopolysaccharidosis type 7	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 197581291.	NM_000181.4(GUSB):c.582-9C>T GRCh37: Chr7:65444537 GRCh38: Chr7:65979550	GUSB		Mucopolysaccharidosis type 7	Likely benign (Dec 30, 2021)	criteria provided, single submitter
Select item 197325792.	NM_000181.4(GUSB):c.1797G>A (p.Thr599=) GRCh37: Chr7:65426043 GRCh38: Chr7:65961056	GUSB		Mucopolysaccharidosis type 7	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 197237293.	NM_000181.4(GUSB):c.210+13G>A GRCh37: Chr7:65446948 GRCh38: Chr7:65981961	GUSB		Mucopolysaccharidosis type 7	Likely benign (Jun 18, 2022)	criteria provided, single submitter
Select item 196815294.	NM_000181.4(GUSB):c.1245-5C>T GRCh37: Chr7:65439433 GRCh38: Chr7:65974446	GUSB		Mucopolysaccharidosis type 7	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 196768095.	NM_000181.4(GUSB):c.1044C>T (p.Val348=) GRCh37: Chr7:65439927 GRCh38: Chr7:65974940	GUSB		Mucopolysaccharidosis type 7	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 196463596.	NM_000181.4(GUSB):c.201G>T (p.Pro67=) GRCh37: Chr7:65446970 GRCh38: Chr7:65981983	GUSB		Mucopolysaccharidosis type 7	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 196330597.	NM_000181.4(GUSB):c.912+18C>G GRCh37: Chr7:65440984 GRCh38: Chr7:65975997	GUSB		Mucopolysaccharidosis type 7	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 196228398.	NM_000181.4(GUSB):c.1927C>T (p.Gln643Ter) GRCh37: Chr7:65425913 GRCh38: Chr7:65960926	GUSB	Q643, Q424, Q497, Q453	Mucopolysaccharidosis type 7	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 196219099.	NM_000181.4(GUSB):c.1065+18G>A GRCh37: Chr7:65439888 GRCh38: Chr7:65974901	GUSB		Mucopolysaccharidosis type 7	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 1959199100.	NM_000181.4(GUSB):c.396+17G>A GRCh37: Chr7:65445194 GRCh38: Chr7:65980207	GUSB		Mucopolysaccharidosis type 7	Likely benign (Feb 22, 2022)	criteria provided, single submitter

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