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 26279071.	NM_033380.3(COL4A5):c.3053G>T (p.Gly1018Val) GRCh37: ChrX:107868971 GRCh38: ChrX:108625741	COL4A5	G1018V	X-linked Alport syndrome	Likely pathogenic (Jun 15, 2023)	criteria provided, single submitter
Select item 26278022.	NM_033380.3(COL4A5):c.547-1G>A GRCh37: ChrX:107819139 GRCh38: ChrX:108575909	COL4A5		X-linked Alport syndrome	Likely pathogenic (Sep 5, 2022)	no assertion criteria provided
Select item 26278013.	NM_033380.3(COL4A5):c.1499G>T (p.Gly500Val) GRCh37: ChrX:107838814 GRCh38: ChrX:108595584	COL4A5	G500V	X-linked Alport syndrome	Likely pathogenic (Sep 5, 2022)	no assertion criteria provided
Select item 26278004.	NM_033380.3(COL4A5):c.2096G>A (p.Gly699Glu) GRCh37: ChrX:107845169 GRCh38: ChrX:108601939	COL4A5	G699E	X-linked Alport syndrome	Likely pathogenic (Sep 5, 2022)	no assertion criteria provided
Select item 26277945.	NM_033380.3(COL4A5):c.2543C>T (p.Pro848Leu) GRCh37: ChrX:107863522 GRCh38: ChrX:108620292	COL4A5	P848L	X-linked Alport syndrome	Uncertain significance (Aug 22, 2023)	criteria provided, single submitter
Select item 26275056.	NM_033380.3(COL4A5):c.2678G>A (p.Gly893Asp) GRCh37: ChrX:107865033 GRCh38: ChrX:108621803	COL4A5	G893D	X-linked Alport syndrome	Uncertain significance	criteria provided, single submitter
Select item 26271467.	NM_033380.3(COL4A5):c.3365G>A (p.Gly1122Glu) GRCh37: ChrX:107898679 GRCh38: ChrX:108655449	COL4A5	G1122E	X-linked Alport syndrome	Likely pathogenic (Sep 7, 2023)	criteria provided, single submitter
Select item 26269498.	NM_033380.3(COL4A5):c.60G>A (p.Trp20Ter) GRCh37: ChrX:107683415 GRCh38: ChrX:108440185	COL4A5	W20*	X-linked Alport syndrome	Likely pathogenic (Sep 18, 2023)	criteria provided, single submitter
Select item 25853339.	NM_033380.3(COL4A5):c.107C>A (p.Ser36Ter) GRCh37: ChrX:107783001 GRCh38: ChrX:108539771	COL4A5	S36*	X-linked Alport syndrome	Pathogenic	criteria provided, single submitter
Select item 258504110.	NM_033380.3(COL4A5):c.2980G>A (p.Gly994Arg) GRCh37: ChrX:107867528 GRCh38: ChrX:108624298	COL4A5	G994R	X-linked Alport syndrome	Likely pathogenic	criteria provided, single submitter
Select item 258440211.	NM_033380.3(COL4A5):c.3791-41A>G GRCh37: ChrX:107913417 GRCh38: ChrX:108670187	COL4A5		X-linked Alport syndrome	Pathogenic (Oct 2, 2023)	criteria provided, single submitter
Select item 258437212.	NM_033380.3(COL4A5):c.546+1G>A GRCh37: ChrX:107816885 GRCh38: ChrX:108573655	COL4A5		X-linked Alport syndrome	Pathogenic (Jun 21, 2023)	criteria provided, single submitter
Select item 258272413.	NM_033380.3(COL4A5):c.687+4A>T GRCh37: ChrX:107821353 GRCh38: ChrX:108578123	COL4A5		X-linked Alport syndrome	Uncertain significance (Oct 9, 2023)	no assertion criteria provided
Select item 258240314.	NM_033380.3(COL4A5):c.4468T>C (p.Tyr1490His) GRCh37: ChrX:107930864 GRCh38: ChrX:108687634	COL4A5	Y1484H, Y1490H	X-linked Alport syndrome	Uncertain significance (Apr 28, 2023)	criteria provided, single submitter
Select item 257744815.	NM_033380.3(COL4A5):c.3097G>T (p.Gly1033Cys) GRCh37: ChrX:107869015 GRCh38: ChrX:108625785	COL4A5	G1033C	X-linked Alport syndrome	Pathogenic (May 10, 2023)	no assertion criteria provided
Select item 257742316.	NM_033380.3(COL4A5):c.1718G>T (p.Gly573Val) GRCh37: ChrX:107840737 GRCh38: ChrX:108597507	COL4A5	G573V	X-linked Alport syndrome	Pathogenic (Sep 13, 2021)	no assertion criteria provided
Select item 257249617.	NM_033380.3(COL4A5):c.938del GRCh37: ChrX:107826113 GRCh38: ChrX:108582883	COL4A5		X-linked Alport syndrome	Likely pathogenic	criteria provided, single submitter
Select item 257245718.	NM_033380.3(COL4A5):c.770_776del (p.Lys257fs) GRCh37: ChrX:107821600-107821606 GRCh38: ChrX:108578370-108578376	COL4A5	K257fs	X-linked Alport syndrome	Likely pathogenic	criteria provided, single submitter
Select item 257240619.	NM_033380.3(COL4A5):c.439G>C (p.Gly147Arg) GRCh37: ChrX:107815041 GRCh38: ChrX:108571811	COL4A5	G147R	X-linked Alport syndrome	Likely pathogenic	criteria provided, single submitter
Select item 250649520.	NM_033380.3(COL4A5):c.3115G>A (p.Gly1039Ser) GRCh37: ChrX:107869448 GRCh38: ChrX:108626218	COL4A5	G1039S	X-linked Alport syndrome	Likely pathogenic (Dec 1, 2022)	criteria provided, single submitter
Select item 250649421.	NM_033380.3(COL4A5):c.4446C>A (p.Cys1482Ter) GRCh37: ChrX:107930842 GRCh38: ChrX:108687612	COL4A5	C1476, C1482	X-linked Alport syndrome	Likely pathogenic (Dec 1, 2022)	criteria provided, single submitter
Select item 250647422.	NM_033380.3(COL4A5):c.82-1G>A GRCh37: ChrX:107782975 GRCh38: ChrX:108539745	COL4A5		X-linked Alport syndrome	Pathogenic (Nov 3, 2022)	criteria provided, single submitter
Select item 250169723.	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 250025824.	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 244590425.	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 244441426.	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 244429727.	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 244422128.	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 244415029.	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 244410930.	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 244032431.	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 244032332.	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 244032233.	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 243940534.	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 243939635.	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 243173536.	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 243170537.	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 213868538.	NM_033380.3(COL4A5):c.638G>A (p.Gly213Glu) GRCh37: ChrX:107821210 GRCh38: ChrX:108577980	COL4A5	G213E	not provided, X-linked Alport syndrome	Likely pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 212228339.	NM_033380.3(COL4A5):c.160G>C (p.Gly54Arg) GRCh37: ChrX:107802312 GRCh38: ChrX:108559082	COL4A5	G54R	not provided, X-linked Alport syndrome	Pathogenic/Likely pathogenic (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 202762140.	NM_033380.3(COL4A5):c.3393_3419del (p.Pro1132_Gly1140del) GRCh37: ChrX:107908745-107908771 GRCh38: ChrX:108665515-108665541	COL4A5		not provided, X-linked Alport syndrome	Pathogenic/Likely pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 201473641.	NM_033380.3(COL4A5):c.4088-2A>G GRCh37: ChrX:107924988 GRCh38: ChrX:108681758	COL4A5		X-linked Alport syndrome, not provided	Pathogenic/Likely pathogenic (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 199237042.	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 199236943.	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 199231044.	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 187840645.	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 187836446.	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 181020147.	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 180616948.	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 180608249.	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 180549850.	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 180549051.	NM_033380.3(COL4A5):c.2104G>C (p.Gly702Arg) GRCh37: ChrX:107845177 GRCh38: ChrX:108601947	COL4A5	G702R	X-linked Alport syndrome	Likely pathogenic (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180410752.	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 180410653.	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 180410554.	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 180410455.	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 180410356.	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 180410257.	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 180395458.	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 180395359.	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 180395260.	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 172698661.	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 172687262.	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 172674663.	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 172665464.	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 172660465.	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 172636266.	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 172624067.	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 172617068.	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 172608769.	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 172607770.	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 172600871.	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 172599472.	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 172597773.	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 172595374.	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 172579475.	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 172578776.	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 172569977.	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 172565778.	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 172561079.	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 172560980.	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 172544281.	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 172544082.	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 172524483.	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 172517984.	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 172515485.	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 172510486.	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 172499187.	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 172491388.	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 172488489.	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 172487990.	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 172485991.	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 172478692.	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 172478193.	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 172474694.	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 172464695.	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 172453696.	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 172444297.	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 172442698.	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 172439499.	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 1724363100.	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

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