ClinVar for MedGen (Select 1648433) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25016971.	NM_033380.3(COL4A5):c.3399del (p.Gly1134fs) GRCh37: ChrX:107908759 GRCh38: ChrX:108665529	COL4A5	G1134fs	X-linked Alport syndrome	Likely pathogenic (Mar 27, 2023)	criteria provided, single submitter
Select item 25002582.	NM_033380.3(COL4A5):c.645+3_645+36del GRCh37: ChrX:107821218-107821251 GRCh38: ChrX:108577988-108578021	COL4A5		X-linked Alport syndrome	Likely pathogenic (Oct 10, 2022)	criteria provided, single submitter
Select item 24459043.	NM_033380.3(COL4A5):c.4097_4098inv (p.Gly1366Val) GRCh37: ChrX:107924999-107925000 GRCh38: ChrX:108681769-108681770	COL4A5	G1360V, G1366V	X-linked Alport syndrome	Likely pathogenic (Feb 3, 2023)	criteria provided, single submitter
Select item 24444144.	NM_033380.3(COL4A5):c.4417C>T (p.His1473Tyr) GRCh37: ChrX:107930813 GRCh38: ChrX:108687583	COL4A5	H1467Y, H1473Y	X-linked Alport syndrome	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24442975.	NM_033380.3(COL4A5):c.1634G>A (p.Gly545Asp) GRCh37: ChrX:107840653 GRCh38: ChrX:108597423	COL4A5	G545D	X-linked Alport syndrome	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24442216.	NM_033380.3(COL4A5):c.3499_3504del (p.Gly1167_Lys1168del) GRCh37: ChrX:107909767-107909772 GRCh38: ChrX:108666537-108666542	COL4A5		X-linked Alport syndrome	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24441507.	NM_033380.3(COL4A5):c.2422G>A (p.Gly808Arg) GRCh37: ChrX:107858167 GRCh38: ChrX:108614937	COL4A5	G808R	X-linked Alport syndrome	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24441098.	NM_033380.3(COL4A5):c.1340-2A>G GRCh37: ChrX:107834789 GRCh38: ChrX:108591559	COL4A5		X-linked Alport syndrome	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24403249.	NM_033380.3(COL4A5):c.4970C>A (p.Thr1657Asn) GRCh37: ChrX:107938645 GRCh38: ChrX:108695415	COL4A5	T1651N, T1657N	X-linked Alport syndrome	Uncertain significance (May 11, 2020)	criteria provided, single submitter
Select item 244032310.	NM_033380.3(COL4A5):c.3194A>G (p.Lys1065Arg) GRCh37: ChrX:107869527 GRCh38: ChrX:108626297	COL4A5	K1065R	X-linked Alport syndrome	Uncertain significance (Oct 21, 2021)	criteria provided, single submitter
Select item 244032211.	NM_033380.3(COL4A5):c.4747C>G (p.His1583Asp) GRCh37: ChrX:107938077 GRCh38: ChrX:108694847	COL4A5	H1577D, H1583D	X-linked Alport syndrome	Uncertain significance (Jul 19, 2019)	criteria provided, single submitter
Select item 243940512.	NM_033380.3(COL4A5):c.1949-3_1949delinsAGGATCCCCTGGA GRCh37: ChrX:107844620-107844623 GRCh38: ChrX:108601390-108601393	COL4A5		X-linked Alport syndrome	Likely pathogenic (May 16, 2022)	criteria provided, single submitter
Select item 243939613.	NM_033380.3(COL4A5):c.1736G>A (p.Gly579Glu) GRCh37: ChrX:107840755 GRCh38: ChrX:108597525	COL4A5	G579E	X-linked Alport syndrome	Likely pathogenic (Jun 22, 2022)	criteria provided, single submitter
Select item 243173514.	NM_033380.3(COL4A5):c.4087+1G>C GRCh37: ChrX:107924187 GRCh38: ChrX:108680957	COL4A5		X-linked Alport syndrome	Likely pathogenic (Apr 11, 2022)	criteria provided, single submitter
Select item 243170515.	NM_033380.3(COL4A5):c.3032del (p.Pro1011fs) GRCh37: ChrX:107868948 GRCh38: ChrX:108625718	COL4A5	P1011fs	X-linked Alport syndrome	Pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 213868516.	NM_033380.3(COL4A5):c.638G>A (p.Gly213Glu) GRCh37: ChrX:107821210 GRCh38: ChrX:108577980	COL4A5	G213E	X-linked Alport syndrome, not provided	Likely pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 202762117.	NM_033380.3(COL4A5):c.3393_3419del (p.Pro1132_Gly1140del) GRCh37: ChrX:107908745-107908771 GRCh38: ChrX:108665515-108665541	COL4A5		X-linked Alport syndrome, not provided	Pathogenic/Likely pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 199237018.	NM_033380.3(COL4A5):c.564_598del (p.Gly189fs) GRCh37: ChrX:107819153-107819187 GRCh38: ChrX:108575923-108575957	COL4A5	G189fs	X-linked Alport syndrome	Pathogenic (May 20, 2022)	criteria provided, single submitter
Select item 199236919.	NM_033380.3(COL4A5):c.4598G>T (p.Cys1533Phe) GRCh37: ChrX:107936047 GRCh38: ChrX:108692817	COL4A5	C1527F, C1533F	X-linked Alport syndrome	Likely pathogenic (May 20, 2022)	criteria provided, single submitter
Select item 199231020.	NM_033380.3(COL4A5):c.2245G>A (p.Gly749Ser) GRCh37: ChrX:107849972 GRCh38: ChrX:108606742	COL4A5	G749S	X-linked Alport syndrome	Pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 187840621.	NC_000023.10:g.(107683437_107782975)_(107834875_107838738)del GRCh37: ChrX:107683437-107838738	COL4A5		X-linked Alport syndrome	Likely pathogenic (Dec 29, 2022)	criteria provided, single submitter
Select item 187836422.	NM_033380.3(COL4A5):c.3017-2A>G GRCh37: ChrX:107868933 GRCh38: ChrX:108625703	COL4A5		not provided, X-linked Alport syndrome	Pathogenic/Likely pathogenic (Dec 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 181020123.	NM_033380.3(COL4A5):c.231+1G>T GRCh37: ChrX:107802384 GRCh38: ChrX:108559154	COL4A5		X-linked Alport syndrome	Likely pathogenic (Jan 5, 2023)	criteria provided, single submitter
Select item 180616924.	NM_033380.3(COL4A5):c.4180G>C (p.Gly1394Arg) GRCh37: ChrX:107925082 GRCh38: ChrX:108681852	COL4A5	G1388R, G1394R	X-linked Alport syndrome	Likely pathogenic (May 6, 2021)	criteria provided, single submitter
Select item 180608225.	NM_033380.3(COL4A5):c.1625G>T (p.Gly542Val) GRCh37: ChrX:107840644 GRCh38: ChrX:108597414	COL4A5	G542V	X-linked Alport syndrome	Likely pathogenic (Oct 19, 2020)	criteria provided, single submitter
Select item 180549826.	NM_033380.3(COL4A5):c.3650G>A (p.Gly1217Asp) GRCh37: ChrX:107911594 GRCh38: ChrX:108668364	COL4A5	G1217D	X-linked Alport syndrome	Pathogenic (Jun 11, 2020)	criteria provided, single submitter
Select item 180549027.	NM_033380.3(COL4A5):c.2104G>C (p.Gly702Arg) GRCh37: ChrX:107845177 GRCh38: ChrX:108601947	COL4A5	G702R	X-linked Alport syndrome	Likely pathogenic (Oct 19, 2020)	criteria provided, single submitter
Select item 180410728.	NM_033380.3(COL4A5):c.1481del (p.Gly494fs) GRCh37: ChrX:107838795 GRCh38: ChrX:108595565	COL4A5	G494fs	X-linked Alport syndrome	Pathogenic (Mar 9, 2022)	criteria provided, single submitter
Select item 180410629.	NM_033380.3(COL4A5):c.956G>T (p.Gly319Val) GRCh37: ChrX:107826133 GRCh38: ChrX:108582903	COL4A5	G319V	X-linked Alport syndrome	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 180410530.	NM_033380.3(COL4A5):c.919G>C (p.Gly307Arg) GRCh37: ChrX:107824240 GRCh38: ChrX:108581010	COL4A5	G307R	X-linked Alport syndrome	Likely pathogenic (Mar 21, 2022)	criteria provided, single submitter
Select item 180410431.	NM_033380.3(COL4A5):c.817G>A (p.Gly273Arg) GRCh37: ChrX:107823799 GRCh38: ChrX:108580569	COL4A5	G273R	X-linked Alport syndrome	Likely pathogenic (Aug 1, 2022)	criteria provided, single submitter
Select item 180410332.	NM_033380.3(COL4A5):c.609+1G>A GRCh37: ChrX:107819203 GRCh38: ChrX:108575973	COL4A5		X-linked Alport syndrome	Pathogenic (Sep 9, 2021)	criteria provided, single submitter
Select item 180410233.	NM_033380.3(COL4A5):c.538G>A (p.Gly180Arg) GRCh37: ChrX:107816876 GRCh38: ChrX:108573646	COL4A5	G180R	X-linked Alport syndrome	Likely pathogenic (Aug 1, 2022)	criteria provided, single submitter
Select item 180395434.	NM_033380.3(COL4A5):c.4808A>G (p.Tyr1603Cys) GRCh37: ChrX:107938138 GRCh38: ChrX:108694908	COL4A5	Y1597C, Y1603C	not provided, X-linked Alport syndrome	Conflicting interpretations of pathogenicity (Apr 21, 2022)	criteria provided, conflicting interpretations
Select item 180395335.	NM_033380.3(COL4A5):c.3499G>A (p.Gly1167Ser) GRCh37: ChrX:107909770 GRCh38: ChrX:108666540	COL4A5	G1167S	X-linked Alport syndrome	Likely pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 180395236.	NM_033380.3(COL4A5):c.3008G>T (p.Gly1003Val) GRCh37: ChrX:107867556 GRCh38: ChrX:108624326	COL4A5	G1003V	X-linked Alport syndrome	Likely pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 172698637.	NM_033380.3(COL4A5):c.4313del (p.Pro1438fs) GRCh37: ChrX:107929356 GRCh38: ChrX:108686126	COL4A5	P1432fs, P1438fs	X-linked Alport syndrome	Likely pathogenic (Jan 6, 2022)	criteria provided, single submitter
Select item 172687238.	NM_033380.3(COL4A5):c.1395del (p.Gly466fs) GRCh37: ChrX:107834844 GRCh38: ChrX:108591614	COL4A5	G466fs	X-linked Alport syndrome	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172674639.	NM_033380.3(COL4A5):c.4609_4610del (p.Ser1537fs) GRCh37: ChrX:107936058-107936059 GRCh38: ChrX:108692828-108692829	COL4A5	S1531fs, S1537fs	X-linked Alport syndrome	Likely pathogenic (Dec 31, 2021)	criteria provided, single submitter
Select item 172665440.	NM_033380.3(COL4A5):c.295_296del (p.Gly99fs) GRCh37: ChrX:107811877-107811878 GRCh38: ChrX:108568647-108568648	COL4A5	G99fs	X-linked Alport syndrome	Likely pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 172660441.	NM_033380.3(COL4A5):c.1482_1483del (p.Gln495fs) GRCh37: ChrX:107838797-107838798 GRCh38: ChrX:108595567-108595568	COL4A5	Q495fs	X-linked Alport syndrome	Likely pathogenic (Dec 27, 2021)	criteria provided, single submitter
Select item 172636242.	NM_033380.3(COL4A5):c.3784A>T (p.Arg1262Ter) GRCh37: ChrX:107911728 GRCh38: ChrX:108668498	COL4A5	R1262*	X-linked Alport syndrome	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 172624043.	NM_033380.3(COL4A5):c.469G>T (p.Glu157Ter) GRCh37: ChrX:107816807 GRCh38: ChrX:108573577	COL4A5	E157*	X-linked Alport syndrome	Likely pathogenic (May 30, 2022)	criteria provided, single submitter
Select item 172617044.	NM_033380.3(COL4A5):c.3955dup (p.Arg1319fs) GRCh37: ChrX:107923919-107923920 GRCh38: ChrX:108680689-108680690	COL4A5	R1313fs, R1319fs	X-linked Alport syndrome	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 172608745.	NM_033380.3(COL4A5):c.3784del (p.Arg1262fs) GRCh37: ChrX:107911728 GRCh38: ChrX:108668498	COL4A5	R1262fs	X-linked Alport syndrome	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 172607746.	NM_033380.3(COL4A5):c.2693_2697del (p.Met898fs) GRCh37: ChrX:107865048-107865052 GRCh38: ChrX:108621818-108621822	COL4A5	M898fs	X-linked Alport syndrome	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 172600847.	NM_033380.3(COL4A5):c.681_682del (p.Glu228fs) GRCh37: ChrX:107821342-107821343 GRCh38: ChrX:108578112-108578113	COL4A5	E228fs	X-linked Alport syndrome	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 172599448.	NM_033380.3(COL4A5):c.4410del (p.Thr1471fs) GRCh37: ChrX:107930805 GRCh38: ChrX:108687575	COL4A5	T1465fs, T1471fs	X-linked Alport syndrome	Likely pathogenic (Apr 30, 2022)	criteria provided, single submitter
Select item 172597749.	NM_033380.3(COL4A5):c.2322del (p.Gly775fs) GRCh37: ChrX:107850046 GRCh38: ChrX:108606816	COL4A5	G775fs	X-linked Alport syndrome	Likely pathogenic (Apr 29, 2022)	criteria provided, single submitter
Select item 172595350.	NM_033380.3(COL4A5):c.3460G>T (p.Gly1154Ter) GRCh37: ChrX:107909731 GRCh38: ChrX:108666501	COL4A5	G1154*	X-linked Alport syndrome	Likely pathogenic (Apr 23, 2022)	criteria provided, single submitter
Select item 172579451.	NM_033380.3(COL4A5):c.2637_2638del (p.Pro880fs) GRCh37: ChrX:107863615-107863616 GRCh38: ChrX:108620385-108620386	COL4A5	P880fs	X-linked Alport syndrome	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 172578752.	NM_033380.3(COL4A5):c.4211T>A (p.Leu1404Ter) GRCh37: ChrX:107925113 GRCh38: ChrX:108681883	COL4A5	L1398, L1404	X-linked Alport syndrome	Likely pathogenic (Dec 7, 2021)	criteria provided, single submitter
Select item 172569953.	NM_033380.3(COL4A5):c.710del (p.Pro237fs) GRCh37: ChrX:107821541 GRCh38: ChrX:108578311	COL4A5	P237fs	X-linked Alport syndrome	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 172565754.	NM_033380.3(COL4A5):c.67_68del (p.Pro23fs) GRCh37: ChrX:107683422-107683423 GRCh38: ChrX:108440192-108440193	COL4A5	P23fs	X-linked Alport syndrome	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172561055.	NM_033380.3(COL4A5):c.3179del (p.Gly1060fs) GRCh37: ChrX:107869511 GRCh38: ChrX:108626281	COL4A5	G1060fs	X-linked Alport syndrome	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172560956.	NM_033380.3(COL4A5):c.4507del (p.Arg1503fs) GRCh37: ChrX:107930900 GRCh38: ChrX:108687670	COL4A5	R1497fs, R1503fs	X-linked Alport syndrome	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172544257.	NM_033380.3(COL4A5):c.703C>T (p.Gln235Ter) GRCh37: ChrX:107821536 GRCh38: ChrX:108578306	COL4A5	Q235*	X-linked Alport syndrome	Likely pathogenic (Mar 21, 2022)	criteria provided, single submitter
Select item 172544058.	NM_033380.3(COL4A5):c.216del (p.Pro73fs) GRCh37: ChrX:107802365 GRCh38: ChrX:108559135	COL4A5	P73fs	X-linked Alport syndrome	Likely pathogenic (Mar 21, 2022)	criteria provided, single submitter
Select item 172524459.	NM_033380.3(COL4A5):c.3002T>A (p.Leu1001Ter) GRCh37: ChrX:107867550 GRCh38: ChrX:108624320	COL4A5	L1001*	X-linked Alport syndrome	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 172517960.	NM_033380.3(COL4A5):c.948_949del (p.Asp317fs) GRCh37: ChrX:107826124-107826125 GRCh38: ChrX:108582894-108582895	COL4A5	D317fs	X-linked Alport syndrome	Likely pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 172515461.	NM_033380.3(COL4A5):c.4762C>T (p.Gln1588Ter) GRCh37: ChrX:107938092 GRCh38: ChrX:108694862	COL4A5	Q1582, Q1588	X-linked Alport syndrome	Likely pathogenic (Mar 10, 2022)	criteria provided, single submitter
Select item 172510462.	NM_033380.3(COL4A5):c.1748T>A (p.Leu583Ter) GRCh37: ChrX:107840767 GRCh38: ChrX:108597537	COL4A5	L583*	X-linked Alport syndrome	Likely pathogenic (Mar 8, 2022)	criteria provided, single submitter
Select item 172499163.	NM_033380.3(COL4A5):c.4378_4379insA (p.Gly1460fs) GRCh37: ChrX:107930774-107930775 GRCh38: ChrX:108687544-108687545	COL4A5	G1454fs, G1460fs	X-linked Alport syndrome	Likely pathogenic (Mar 4, 2022)	criteria provided, single submitter
Select item 172491364.	NM_033380.3(COL4A5):c.2576del (p.Pro859fs) GRCh37: ChrX:107863551 GRCh38: ChrX:108620321	COL4A5	P859fs	X-linked Alport syndrome	Likely pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 172488465.	NM_033380.3(COL4A5):c.2683A>T (p.Lys895Ter) GRCh37: ChrX:107865038 GRCh38: ChrX:108621808	COL4A5	K895*	X-linked Alport syndrome	Likely pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 172487966.	NM_033380.3(COL4A5):c.3371del (p.Pro1124fs) GRCh37: ChrX:107898683 GRCh38: ChrX:108655453	COL4A5	P1124fs	X-linked Alport syndrome	Likely pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 172485967.	NM_033380.3(COL4A5):c.2668G>T (p.Gly890Ter) GRCh37: ChrX:107863647 GRCh38: ChrX:108620417	COL4A5	G890*	X-linked Alport syndrome	Likely pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 172478668.	NM_033380.3(COL4A5):c.515del (p.Asn172fs) GRCh37: ChrX:107816852 GRCh38: ChrX:108573622	COL4A5	N172fs	X-linked Alport syndrome	Likely pathogenic (Feb 27, 2022)	criteria provided, single submitter
Select item 172478169.	NM_033380.3(COL4A5):c.4057G>T (p.Glu1353Ter) GRCh37: ChrX:107924156 GRCh38: ChrX:108680926	COL4A5	E1347, E1353	X-linked Alport syndrome	Likely pathogenic (Nov 19, 2021)	criteria provided, single submitter
Select item 172474670.	NM_033380.3(COL4A5):c.40_41del (p.Leu14fs) GRCh37: ChrX:107683395-107683396 GRCh38: ChrX:108440165-108440166	COL4A5	L14fs	X-linked Alport syndrome	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 172464671.	NM_033380.3(COL4A5):c.2910_2912delinsA (p.Leu971fs) GRCh37: ChrX:107866048-107866050 GRCh38: ChrX:108622818-108622820	COL4A5	L971fs	X-linked Alport syndrome	Likely pathogenic (Feb 24, 2022)	criteria provided, single submitter
Select item 172453672.	NM_033380.3(COL4A5):c.4783G>T (p.Gly1595Ter) GRCh37: ChrX:107938113 GRCh38: ChrX:108694883	COL4A5	G1589, G1595	X-linked Alport syndrome	Likely pathogenic (Feb 19, 2022)	criteria provided, single submitter
Select item 172444273.	NM_033380.3(COL4A5):c.3782_3783del (p.Gly1261fs) GRCh37: ChrX:107911725-107911726 GRCh38: ChrX:108668495-108668496	COL4A5	G1261fs	X-linked Alport syndrome	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 172442674.	NM_033380.3(COL4A5):c.694C>T (p.Gln232Ter) GRCh37: ChrX:107821527 GRCh38: ChrX:108578297	COL4A5	Q232*	X-linked Alport syndrome	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 172439475.	NM_033380.3(COL4A5):c.2202_2204delinsA (p.Leu735fs) GRCh37: ChrX:107846249-107846251 GRCh38: ChrX:108603019-108603021	COL4A5	L735fs	X-linked Alport syndrome	Likely pathogenic (Feb 12, 2022)	criteria provided, single submitter
Select item 172436376.	NM_033380.3(COL4A5):c.367G>T (p.Gly123Ter) GRCh37: ChrX:107812034 GRCh38: ChrX:108568804	COL4A5	G123*	X-linked Alport syndrome	Likely pathogenic (Feb 11, 2022)	criteria provided, single submitter
Select item 172431777.	NM_033380.3(COL4A5):c.2180_2183del (p.Pro727fs) GRCh37: ChrX:107846227-107846230 GRCh38: ChrX:108602997-108603000	COL4A5	P727fs	X-linked Alport syndrome	Likely pathogenic (Feb 5, 2022)	criteria provided, single submitter
Select item 172422378.	NM_033380.3(COL4A5):c.3488del (p.Pro1163fs) GRCh37: ChrX:107909758 GRCh38: ChrX:108666528	COL4A5	P1163fs	X-linked Alport syndrome	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 172405879.	NM_033380.3(COL4A5):c.4504A>T (p.Lys1502Ter) GRCh37: ChrX:107930900 GRCh38: ChrX:108687670	COL4A5	K1496, K1502	X-linked Alport syndrome	Likely pathogenic (Jan 24, 2022)	criteria provided, single submitter
Select item 172396280.	NM_033380.3(COL4A5):c.272_275delinsCTTTTAAT (p.Ile91fs) GRCh37: ChrX:107807152-107807155 GRCh38: ChrX:108563922-108563925	COL4A5	I91fs	X-linked Alport syndrome	Likely pathogenic (Jan 17, 2022)	criteria provided, single submitter
Select item 172394481.	NM_033380.3(COL4A5):c.4752_4753delinsA (p.Ser1584fs) GRCh37: ChrX:107938082-107938083 GRCh38: ChrX:108694852-108694853	COL4A5	S1578fs, S1584fs	X-linked Alport syndrome	Likely pathogenic (Jan 15, 2022)	criteria provided, single submitter
Select item 172318382.	NM_033380.3(COL4A5):c.3622G>C (p.Gly1208Arg) GRCh37: ChrX:107911566 GRCh38: ChrX:108668336	COL4A5	G1208R	X-linked Alport syndrome	Likely pathogenic (Nov 10, 2022)	criteria provided, single submitter
Select item 171118583.	NM_033380.3(COL4A5):c.4822-10T>C GRCh37: ChrX:107938487 GRCh38: ChrX:108695257	COL4A5		not provided	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 171118084.	NM_033380.3(COL4A5):c.4432del (p.Asp1478fs) GRCh37: ChrX:107930827 GRCh38: ChrX:108687597	COL4A5	D1472fs, D1478fs	X-linked Alport syndrome	Pathogenic (Jan 8, 2021)	no assertion criteria provided
Select item 171117185.	NM_033380.3(COL4A5):c.835-9T>A GRCh37: ChrX:107823903 GRCh38: ChrX:108580673	COL4A5		X-linked Alport syndrome	Pathogenic (Jan 8, 2021)	no assertion criteria provided
Select item 170995486.	NM_033380.3(COL4A5):c.711_716del (p.Gly239_Pro240del) GRCh37: ChrX:107821544-107821549 GRCh38: ChrX:108578314-108578319	COL4A5		X-linked Alport syndrome	Likely pathogenic (Sep 7, 2021)	criteria provided, single submitter
Select item 170940787.	NM_033380.3(COL4A5):c.554C>G (p.Pro185Arg) GRCh37: ChrX:107819147 GRCh38: ChrX:108575917	COL4A5	P185R	X-linked Alport syndrome	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 170805588.	NM_033380.3(COL4A5):c.219_226del (p.Arg74fs) GRCh37: ChrX:107802370-107802377 GRCh38: ChrX:108559140-108559147	COL4A5	R74fs	X-linked Alport syndrome	Likely pathogenic (Jun 7, 2022)	criteria provided, single submitter
Select item 170572289.	NM_033380.3(COL4A5):c.609+5G>A GRCh37: ChrX:107819207 GRCh38: ChrX:108575977	COL4A5		X-linked Alport syndrome	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 170562890.	NM_033380.3(COL4A5):c.891_891+1del GRCh37: ChrX:107823966-107823967 GRCh38: ChrX:108580736-108580737	COL4A5		X-linked Alport syndrome	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170549691.	NM_033380.3(COL4A5):c.2732G>A (p.Gly911Glu) GRCh37: ChrX:107865087 GRCh38: ChrX:108621857	COL4A5	G911E	X-linked Alport syndrome	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170546192.	NM_033380.3(COL4A5):c.2474del (p.Gly825fs) GRCh37: ChrX:107858218 GRCh38: ChrX:108614988	COL4A5	G825fs	X-linked Alport syndrome	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170544793.	NM_033380.3(COL4A5):c.3053G>A (p.Gly1018Asp) GRCh37: ChrX:107868971 GRCh38: ChrX:108625741	COL4A5	G1018D	X-linked Alport syndrome	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170541494.	NM_033380.3(COL4A5):c.1825G>T (p.Gly609Cys) GRCh37: ChrX:107841977 GRCh38: ChrX:108598747	COL4A5	G609C	X-linked Alport syndrome	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 170534595.	NM_033380.3(COL4A5):c.3142G>A (p.Gly1048Arg) GRCh37: ChrX:107869475 GRCh38: ChrX:108626245	COL4A5	G1048R	X-linked Alport syndrome	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 170531196.	NM_033380.3(COL4A5):c.511G>T (p.Gly171Cys) GRCh37: ChrX:107816849 GRCh38: ChrX:108573619	COL4A5	G171C	X-linked Alport syndrome	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170325697.	NM_033380.3(COL4A5):c.385-716G>A GRCh37: ChrX:107813927 GRCh38: ChrX:108570697	COL4A5		X-linked Alport syndrome	Pathogenic	no assertion criteria provided
Select item 170001498.	NM_033380.3(COL4A5):c.1312G>C (p.Gly438Arg) GRCh37: ChrX:107834434 GRCh38: ChrX:108591204	COL4A5	G438R	X-linked Alport syndrome	Likely pathogenic (Jun 9, 2022)	criteria provided, single submitter
Select item 170000999.	NM_033380.3(COL4A5):c.427C>T (p.Gln143Ter) GRCh37: ChrX:107814685 GRCh38: ChrX:108571455	COL4A5	Q143*	X-linked Alport syndrome	Likely pathogenic (Aug 1, 2022)	criteria provided, single submitter
Select item 1698726100.	NM_033380.3(COL4A5):c.1332_1335dup (p.Pro446fs) GRCh37: ChrX:107834452-107834453 GRCh38: ChrX:108591222-108591223	COL4A5	P446fs	X-linked Alport syndrome	Likely pathogenic (Mar 2, 2021)	criteria provided, single submitter

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