ClinVar for MedGen (Select 339209) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24995401.	NM_000092.5(COL4A4):c.1181G>T (p.Gly394Val) GRCh37: Chr2:227963433 GRCh38: Chr2:227098717	COL4A4	G394V	Alport syndrome	Likely pathogenic (Apr 5, 2023)	no assertion criteria provided
Select item 18054922.	NM_033380.3(COL4A5):c.3773G>T (p.Gly1258Val) GRCh37: ChrX:107911717 GRCh38: ChrX:108668487	COL4A5	G1258V	Alport syndrome	Likely pathogenic (May 21, 2020)	criteria provided, single submitter
Select item 18032583.	NM_000091.5(COL4A3):c.1025G>A (p.Gly342Asp) GRCh37: Chr2:228122356 GRCh38: Chr2:227257640	COL4A3, MFF-DT	G342D	Alport syndrome	Uncertain significance (Sep 10, 2019)	criteria provided, single submitter
Select item 13446474.	NM_033380.3(COL4A5):c.4809T>G (p.Tyr1603Ter) GRCh37: ChrX:107938139 GRCh38: ChrX:108694909	COL4A5	Y1597, Y1603	X-linked Alport syndrome	Pathogenic (Nov 10, 2021)	criteria provided, single submitter
Select item 13399045.	NM_000092.5(COL4A4):c.3398-5C>G GRCh37: Chr2:227906976 GRCh38: Chr2:227042260	COL4A4		not provided	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 13284756.	NM_000092.5(COL4A4):c.1240G>T (p.Gly414Cys) GRCh37: Chr2:227958970 GRCh38: Chr2:227094254	COL4A4	G414C	Alport syndrome	Likely pathogenic (Nov 13, 2020)	criteria provided, single submitter
Select item 13284737.	NM_033380.3(COL4A5):c.3703G>T (p.Gly1235Cys) GRCh37: ChrX:107911647 GRCh38: ChrX:108668417	COL4A5	G1235C	Alport syndrome	Likely pathogenic (Apr 15, 2021)	criteria provided, single submitter
Select item 13284718.	NM_033380.3(COL4A5):c.936+2T>C GRCh37: ChrX:107824259 GRCh38: ChrX:108581029	COL4A5		Alport syndrome	Pathogenic (Feb 3, 2021)	criteria provided, single submitter
Select item 13284689.	NM_033380.3(COL4A5):c.3553G>C (p.Gly1185Arg) GRCh37: ChrX:107909824 GRCh38: ChrX:108666594	COL4A5	G1185R	Alport syndrome	Likely pathogenic (Jul 13, 2021)	criteria provided, single submitter
Select item 125427210.	NM_000091.5(COL4A3):c.1923A>C (p.Glu641Asp) GRCh37: Chr2:228137829 GRCh38: Chr2:227273113	COL4A3, MFF-DT	E641D	not provided	Conflicting interpretations of pathogenicity (Aug 5, 2022)	criteria provided, conflicting interpretations
Select item 123802711.	NM_000092.5(COL4A4):c.2545+140T>C GRCh37: Chr2:227922015 GRCh38: Chr2:227057299	COL4A4		not provided	Benign (Jul 9, 2018)	criteria provided, single submitter
Select item 123249212.	NM_000092.5(COL4A4):c.2545+178T>C GRCh37: Chr2:227921977 GRCh38: Chr2:227057261	COL4A4		not provided	Benign (Jul 9, 2018)	criteria provided, single submitter
Select item 121022313.	NM_000091.5(COL4A3):c.3026del (p.Gly1009fs) GRCh37: Chr2:228154759 GRCh38: Chr2:227290043	COL4A3, MFF-DT	G1009fs	not provided, Alport syndrome	Pathogenic/Likely pathogenic (Apr 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 120908814.	NM_000092.5(COL4A4):c.3644C>T (p.Pro1215Leu) GRCh37: Chr2:227896926 GRCh38: Chr2:227032210	COL4A4	P1215L	not provided, Benign familial hematuria, Autosomal recessive Alport syndrome	Uncertain significance (May 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120856715.	NM_000092.5(COL4A4):c.3112A>G (p.Arg1038Gly) GRCh37: Chr2:227915731 GRCh38: Chr2:227051015	COL4A4	R1038G	not provided	Uncertain significance (Apr 10, 2019)	criteria provided, single submitter
Select item 120547316.	NM_000091.5(COL4A3):c.3200C>T (p.Pro1067Leu) GRCh37: Chr2:228155592 GRCh38: Chr2:227290876	COL4A3, MFF-DT	P1067L	not provided, Autosomal dominant Alport syndrome, Benign familial hematuria, Autosomal recessive Alport syndrome	Uncertain significance (Sep 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 120450517.	NM_000092.5(COL4A4):c.805A>G (p.Lys269Glu) GRCh37: Chr2:227968699 GRCh38: Chr2:227103983	COL4A4	K269E	not provided	Uncertain significance (Sep 17, 2019)	criteria provided, single submitter
Select item 120218518.	NM_000092.5(COL4A4):c.2294G>T (p.Gly765Val) GRCh37: Chr2:227924210 GRCh38: Chr2:227059494	COL4A4	G765V	not provided	Uncertain significance (Oct 29, 2020)	criteria provided, single submitter
Select item 119339919.	NM_000092.5(COL4A4):c.3037C>T (p.His1013Tyr) GRCh37: Chr2:227915806 GRCh38: Chr2:227051090	COL4A4	H1013Y	Inborn genetic diseases, not provided, Benign familial hematuria, Autosomal recessive Alport syndrome	Uncertain significance (Feb 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 119152320.	NM_000092.5(COL4A4):c.3355A>G (p.Arg1119Gly) GRCh37: Chr2:227907835 GRCh38: Chr2:227043119	COL4A4	R1119G	not provided	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 118947821.	NM_000092.5(COL4A4):c.4091-305C>T GRCh37: Chr2:227887194 GRCh38: Chr2:227022478	COL4A4		not provided	Likely benign (Jan 13, 2019)	criteria provided, single submitter
Select item 117904522.	NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu) GRCh37: Chr2:227915829 GRCh38: Chr2:227051113	COL4A4	G1005E	Benign familial hematuria, Autosomal recessive Alport syndrome, not provided	Conflicting interpretations of pathogenicity (Sep 13, 2022)	criteria provided, conflicting interpretations
Select item 116478323.	NM_000092.5(COL4A4):c.3974-12dup GRCh37: Chr2:227892728-227892729 GRCh38: Chr2:227028012-227028013	COL4A4		not provided	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 112955624.	NM_000091.5(COL4A3):c.2184G>A (p.Glu728=) GRCh37: Chr2:228144567 GRCh38: Chr2:227279851	COL4A3, MFF-DT		not provided	Likely benign (Apr 16, 2019)	criteria provided, single submitter
Select item 111975425.	NM_000092.5(COL4A4):c.4809+7dup GRCh37: Chr2:227872724-227872725 GRCh38: Chr2:227008008-227008009	COL4A4		not provided	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 109042726.	NM_000091.5(COL4A3):c.1887G>A (p.Thr629=) GRCh37: Chr2:228137793 GRCh38: Chr2:227273077	COL4A3, MFF-DT		not provided	Likely benign (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 108848027.	NM_000091.5(COL4A3):c.4329G>A (p.Thr1443=) GRCh37: Chr2:228172502 GRCh38: Chr2:227307786	COL4A3, MFF-DT		not provided	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 108420728.	NM_000091.5(COL4A3):c.567T>A (p.Gly189=) GRCh37: Chr2:228115876 GRCh38: Chr2:227251160	COL4A3, MFF-DT		not provided	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 107509129.	NM_000091.5(COL4A3):c.92_95dup (p.Lys34fs) GRCh37: Chr2:228102686-228102687 GRCh38: Chr2:227237970-227237971	MFF-DT, COL4A3	K34fs	Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, Benign familial hematuria, not provided	Pathogenic (Sep 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107096130.	NM_000091.5(COL4A3):c.522dup (p.Leu175fs) GRCh37: Chr2:228113209-228113210 GRCh38: Chr2:227248493-227248494	COL4A3, MFF-DT	L175fs	not provided	Pathogenic (Sep 20, 2022)	criteria provided, single submitter
Select item 106794931.	NM_000091.5(COL4A3):c.1114+2T>C GRCh37: Chr2:228124595 GRCh38: Chr2:227259879	COL4A3, MFF-DT		not provided	Likely pathogenic (Apr 20, 2021)	criteria provided, single submitter
Select item 106722632.	NM_033380.3(COL4A5):c.3898G>A (p.Gly1300Ser) GRCh37: ChrX:107920819 GRCh38: ChrX:108677589	COL4A5	G1294S, G1300S	Alport syndrome, not provided	Likely pathogenic (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106691533.	NM_000092.5(COL4A4):c.559-2A>G GRCh37: Chr2:227976431 GRCh38: Chr2:227111715	COL4A4		Autosomal recessive Alport syndrome, Benign familial hematuria, COL4A4-related condition, not provided	Likely pathogenic (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106505834.	NM_016239.4(MYO15A):c.7925C>T (p.Pro2642Leu) GRCh37: Chr17:18055457 GRCh38: Chr17:18152143	MYO15A	P2642L	not provided, Alport syndrome	Uncertain significance (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106496835.	NM_001146079.2(CLDN14):c.49G>A (p.Gly17Ser) GRCh37: Chr21:37833945 GRCh38: Chr21:36461647	CLDN14, CLDN14-AS1	G17S	Alport syndrome	Uncertain significance (Apr 12, 2021)	criteria provided, single submitter
Select item 106384036.	NM_000091.5(COL4A3):c.281G>C (p.Gly94Ala) GRCh37: Chr2:228109668 GRCh38: Chr2:227244952	COL4A3, MFF-DT	G94A	not provided	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 106043637.	NM_000092.5(COL4A4):c.595-7T>A GRCh37: Chr2:227974009 GRCh38: Chr2:227109293	COL4A4		Autosomal recessive Alport syndrome, Benign familial hematuria, not provided	Uncertain significance (Sep 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106031338.	NM_000092.5(COL4A4):c.4694G>A (p.Arg1565His) GRCh37: Chr2:227872849 GRCh38: Chr2:227008133	COL4A4	R1565H	not provided	Uncertain significance (Nov 17, 2021)	criteria provided, single submitter
Select item 105785039.	NM_000091.5(COL4A3):c.272G>A (p.Gly91Asp) GRCh37: Chr2:228109073 GRCh38: Chr2:227244357	COL4A3, MFF-DT	G91D	not provided	Pathogenic/Likely pathogenic (Dec 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105763640.	NM_000091.5(COL4A3):c.4663G>A (p.Ala1555Thr) GRCh37: Chr2:228173942 GRCh38: Chr2:227309226	COL4A3, MFF-DT	A1555T	not provided	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 105510741.	NM_000091.5(COL4A3):c.4781C>G (p.Thr1594Ser) GRCh37: Chr2:228175517 GRCh38: Chr2:227310801	COL4A3, MFF-DT	T1594S	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 104409242.	NM_000091.5(COL4A3):c.4664C>T (p.Ala1555Val) GRCh37: Chr2:228173943 GRCh38: Chr2:227309227	COL4A3, MFF-DT	A1555V	not provided	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 104342643.	NM_000092.5(COL4A4):c.4091G>T (p.Gly1364Val) GRCh37: Chr2:227886889 GRCh38: Chr2:227022173	COL4A4	G1364V	not provided	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 104312344.	NM_000091.5(COL4A3):c.4255C>A (p.Pro1419Thr) GRCh37: Chr2:228172428 GRCh38: Chr2:227307712	COL4A3, MFF-DT	P1419T	not provided	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 104020045.	NM_000092.5(COL4A4):c.3434G>A (p.Gly1145Glu) GRCh37: Chr2:227906935 GRCh38: Chr2:227042219	COL4A4	G1145E	not provided	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 103601246.	NM_000092.5(COL4A4):c.870G>A (p.Lys290=) GRCh37: Chr2:227967860 GRCh38: Chr2:227103144	COL4A4		not provided	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 102602747.	NM_000092.5(COL4A4):c.2383+3A>G GRCh37: Chr2:227924118 GRCh38: Chr2:227059402	COL4A4		not provided	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 102563348.	NM_000092.5(COL4A4):c.2123G>T (p.Arg708Ile) GRCh37: Chr2:227924893 GRCh38: Chr2:227060177	COL4A4	R708I	not provided	Conflicting interpretations of pathogenicity (Oct 7, 2022)	criteria provided, conflicting interpretations
Select item 102538649.	NM_000091.5(COL4A3):c.685C>T (p.Arg229Trp) GRCh37: Chr2:228118051 GRCh38: Chr2:227253335	COL4A3, MFF-DT	R229W	not provided	Uncertain significance (Jan 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 102182950.	NM_000091.5(COL4A3):c.3116G>A (p.Gly1039Glu) GRCh37: Chr2:228155508 GRCh38: Chr2:227290792	COL4A3, MFF-DT	G1039E	not provided	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 101803851.	NM_000092.5(COL4A4):c.1464T>G (p.Asn488Lys) GRCh37: Chr2:227953528 GRCh38: Chr2:227088812	COL4A4	N488K	not provided, Autosomal recessive Alport syndrome, Benign familial hematuria	Uncertain significance (Sep 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 101723152.	NM_000091.5(COL4A3):c.4643G>A (p.Cys1548Tyr) GRCh37: Chr2:228173922 GRCh38: Chr2:227309206	COL4A3, MFF-DT	C1548Y	not provided	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 101662753.	NM_000092.5(COL4A4):c.1471C>T (p.Leu491Phe) GRCh37: Chr2:227953521 GRCh38: Chr2:227088805	COL4A4	L491F	Autosomal recessive Alport syndrome, Benign familial hematuria, not provided	Conflicting interpretations of pathogenicity (Oct 3, 2022)	criteria provided, conflicting interpretations
Select item 101069954.	NM_000091.5(COL4A3):c.527C>G (p.Pro176Arg) GRCh37: Chr2:228113217 GRCh38: Chr2:227248501	COL4A3, MFF-DT	P176R	not provided, not specified	Uncertain significance (Feb 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 100581355.	NM_000092.5(COL4A4):c.2057G>A (p.Gly686Asp) GRCh37: Chr2:227924959 GRCh38: Chr2:227060243	COL4A4	G686D	not provided	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 100485356.	NM_000091.5(COL4A3):c.63G>A (p.Leu21=) GRCh37: Chr2:228029505 GRCh38: Chr2:227164789	COL4A3, LOC129935730		not provided	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 100281257.	NM_000092.5(COL4A4):c.871-6T>C GRCh37: Chr2:227967570 GRCh38: Chr2:227102854	COL4A4		not provided	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 100274258.	NM_000092.5(COL4A4):c.2611C>T (p.Leu871Phe) GRCh37: Chr2:227920766 GRCh38: Chr2:227056050	COL4A4	L871F	not provided	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 100018159.	NM_000092.5(COL4A4):c.734C>T (p.Pro245Leu) GRCh37: Chr2:227973298 GRCh38: Chr2:227108582	COL4A4	P245L	not provided, Autosomal recessive Alport syndrome, Benign familial hematuria	Uncertain significance (Mar 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99949360.	NM_000092.5(COL4A4):c.192G>A (p.Arg64=) GRCh37: Chr2:228004877 GRCh38: Chr2:227140161	COL4A4		not provided	Pathogenic (Oct 9, 2022)	criteria provided, single submitter
Select item 99452661.	NM_000092.5(COL4A4):c.3771G>A (p.Pro1257=) GRCh37: Chr2:227896707 GRCh38: Chr2:227031991	COL4A4		not provided	Conflicting interpretations of pathogenicity (Aug 5, 2022)	criteria provided, conflicting interpretations
Select item 99063962.	NM_000091.5(COL4A3):c.4765G>A (p.Ala1589Thr) GRCh37: Chr2:228175501 GRCh38: Chr2:227310785	COL4A3, MFF-DT	A1589T	Alport syndrome	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 99063863.	NM_000091.5(COL4A3):c.4450G>A (p.Gly1484Arg) GRCh37: Chr2:228172623 GRCh38: Chr2:227307907	COL4A3, MFF-DT	G1484R	Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, Benign familial hematuria, Inborn genetic diseases	Uncertain significance (Dec 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99063764.	NM_000091.5(COL4A3):c.3857G>T (p.Gly1286Val) GRCh37: Chr2:228163503 GRCh38: Chr2:227298787	COL4A3, MFF-DT	G1286V	Alport syndrome	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 99063665.	NM_000091.5(COL4A3):c.3764C>A (p.Pro1255His) GRCh37: Chr2:228163410 GRCh38: Chr2:227298694	COL4A3, MFF-DT	P1255H	Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, Benign familial hematuria, not provided	Conflicting interpretations of pathogenicity (Sep 9, 2022)	criteria provided, conflicting interpretations
Select item 99063566.	NM_000091.5(COL4A3):c.3735C>G (p.Gly1245=) GRCh37: Chr2:228162559 GRCh38: Chr2:227297843	COL4A3, MFF-DT		Alport syndrome	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 99063467.	NM_000091.5(COL4A3):c.3254T>G (p.Met1085Arg) GRCh37: Chr2:228157950 GRCh38: Chr2:227293234	COL4A3, MFF-DT	M1085R	Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, Benign familial hematuria, not provided	Uncertain significance (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99063368.	NM_000091.5(COL4A3):c.1727T>C (p.Val576Ala) GRCh37: Chr2:228135637 GRCh38: Chr2:227270921	COL4A3, MFF-DT	V576A	Alport syndrome	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 99063269.	NM_000091.5(COL4A3):c.1167C>G (p.Gly389=) GRCh37: Chr2:228128512 GRCh38: Chr2:227263796	COL4A3, MFF-DT		not provided	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 99063170.	NM_000091.5(COL4A3):c.964T>C (p.Leu322=) GRCh37: Chr2:228121089 GRCh38: Chr2:227256373	COL4A3, MFF-DT		Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, Benign familial hematuria, not provided	Likely benign (Aug 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99063071.	NM_000091.5(COL4A3):c.668T>C (p.Ile223Thr) GRCh37: Chr2:228118034 GRCh38: Chr2:227253318	COL4A3, MFF-DT	I223T	Alport syndrome	Uncertain significance (Nov 5, 2020)	no assertion criteria provided
Select item 99062972.	NM_000092.5(COL4A4):c.232C>T (p.Pro78Ser) GRCh37: Chr2:227985825 GRCh38: Chr2:227121109	COL4A4	P78S	Benign familial hematuria, Autosomal recessive Alport syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 98951673.	NM_000092.5(COL4A4):c.766C>T (p.Pro256Ser) GRCh37: Chr2:227968738 GRCh38: Chr2:227104022	COL4A4	P256S	Alport syndrome	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 98951574.	NM_000092.5(COL4A4):c.846A>C (p.Gly282=) GRCh37: Chr2:227967884 GRCh38: Chr2:227103168	COL4A4		Alport syndrome	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 98951475.	NM_000092.5(COL4A4):c.847C>A (p.Leu283Met) GRCh37: Chr2:227967883 GRCh38: Chr2:227103167	COL4A4	L283M	Alport syndrome	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 98951376.	NM_000092.5(COL4A4):c.1585C>T (p.Pro529Ser) GRCh37: Chr2:227953407 GRCh38: Chr2:227088691	COL4A4	P529S	Alport syndrome	Uncertain significance (Aug 15, 2020)	no assertion criteria provided
Select item 98951277.	NM_000092.5(COL4A4):c.3696A>G (p.Pro1232=) GRCh37: Chr2:227896874 GRCh38: Chr2:227032158	COL4A4		Alport syndrome	Uncertain significance (Sep 4, 2020)	no assertion criteria provided
Select item 98951178.	NM_000092.5(COL4A4):c.4095A>G (p.Glu1365=) GRCh37: Chr2:227886885 GRCh38: Chr2:227022169	COL4A4		Alport syndrome	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 98951079.	NM_000092.5(COL4A4):c.4829A>G (p.Gln1610Arg) GRCh37: Chr2:227872285 GRCh38: Chr2:227007569	COL4A4	Q1610R	Alport syndrome	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 98825780.	NM_033380.3(COL4A5):c.438+1_438+3dup GRCh37: ChrX:107814695-107814696 GRCh38: ChrX:108571465-108571466	COL4A5		Alport syndrome	Likely pathogenic (Dec 11, 2016)	no assertion criteria provided
Select item 98825681.	NM_033380.3(COL4A5):c.3556C>T (p.Gln1186Ter) GRCh37: ChrX:107910365 GRCh38: ChrX:108667135	COL4A5	Q1186*	Alport syndrome	Pathogenic (Oct 25, 2018)	no assertion criteria provided
Select item 98825582.	NM_033380.3(COL4A5):c.4769C>A (p.Pro1590His) GRCh37: ChrX:107938099 GRCh38: ChrX:108694869	COL4A5	P1584H, P1590H	Alport syndrome	Pathogenic (Oct 24, 2018)	no assertion criteria provided
Select item 98825483.	NM_033380.3(COL4A5):c.2329C>T (p.Arg777Cys) GRCh37: ChrX:107850056 GRCh38: ChrX:108606826	COL4A5	R777C	not provided	Likely benign (Mar 25, 2022)	criteria provided, single submitter
Select item 98825284.	NM_000091.5(COL4A3):c.4462G>C (p.Gly1488Arg) GRCh37: Chr2:228172635 GRCh38: Chr2:227307919	COL4A3, MFF-DT	G1488R	Alport syndrome	Uncertain significance (Oct 24, 2018)	no assertion criteria provided
Select item 98818685.	NM_033380.3(COL4A5):c.4376dup (p.Gly1460fs) GRCh37: ChrX:107930767-107930768 GRCh38: ChrX:108687537-108687538	COL4A5	G1454fs, G1460fs	Alport syndrome	Pathogenic (Oct 24, 2018)	no assertion criteria provided
Select item 98818486.	NM_033380.3(COL4A5):c.1763_1779+3del GRCh37: ChrX:107840780-107840799 GRCh38: ChrX:108597550-108597569	COL4A5		Alport syndrome	Pathogenic (Oct 24, 2018)	no assertion criteria provided
Select item 98818387.	NM_033380.3(COL4A5):c.434C>T (p.Pro145Leu) GRCh37: ChrX:107814692 GRCh38: ChrX:108571462	COL4A5	P145L	Alport syndrome	Uncertain significance (Jan 9, 2018)	no assertion criteria provided
Select item 98818088.	NM_033380.3(COL4A5):c.3374-1G>A GRCh37: ChrX:107908736 GRCh38: ChrX:108665506	COL4A5		Alport syndrome	Pathogenic (Jun 1, 2018)	no assertion criteria provided
Select item 98817989.	NM_000092.5(COL4A4):c.4198A>G (p.Arg1400Gly) GRCh37: Chr2:227886782 GRCh38: Chr2:227022066	COL4A4	R1400G	not provided	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 98815890.	NM_033380.3(COL4A5):c.2678G>C (p.Gly893Ala) GRCh37: ChrX:107865033 GRCh38: ChrX:108621803	COL4A5	G893A	Alport syndrome	Pathogenic (Oct 24, 2018)	no assertion criteria provided
Select item 98815791.	NM_033380.3(COL4A5):c.3883C>T (p.Gln1295Ter) GRCh37: ChrX:107920804 GRCh38: ChrX:108677574	COL4A5	Q1289, Q1295	Alport syndrome	Pathogenic (Dec 6, 2019)	no assertion criteria provided
Select item 98815692.	NM_033380.3(COL4A5):c.2129G>A (p.Gly710Glu) GRCh37: ChrX:107845202 GRCh38: ChrX:108601972	COL4A5	G710E	Alport syndrome	Likely pathogenic (Oct 24, 2019)	no assertion criteria provided
Select item 98815593.	NM_033380.3(COL4A5):c.1532del (p.Pro511fs) GRCh37: ChrX:107840241 GRCh38: ChrX:108597011	COL4A5	P511fs	Alport syndrome	Likely pathogenic (Aug 16, 2019)	no assertion criteria provided
Select item 98815494.	NM_033380.3(COL4A5):c.2042-2A>C GRCh37: ChrX:107845113 GRCh38: ChrX:108601883	COL4A5		Alport syndrome	Likely pathogenic (Jan 28, 2020)	no assertion criteria provided
Select item 98815395.	NM_033380.3(COL4A5):c.1033-3A>G GRCh37: ChrX:107829842 GRCh38: ChrX:108586612	COL4A5		not provided	Uncertain significance (Dec 18, 2020)	criteria provided, single submitter
Select item 98815296.	NM_033380.3(COL4A5):c.5074T>A (p.Ter1692Lys) GRCh37: ChrX:107939606 GRCh38: ChrX:108696376	COL4A5		Alport syndrome	Uncertain significance (Apr 3, 2018)	no assertion criteria provided
Select item 98814997.	NM_000092.5(COL4A4):c.2752G>A (p.Gly918Arg) GRCh37: Chr2:227919418 GRCh38: Chr2:227054702	COL4A4	G918R	not provided, Autosomal recessive Alport syndrome	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 98811898.	NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg) GRCh37: ChrX:107840236 GRCh38: ChrX:108597006	COL4A5	G509R	not provided, X-linked Alport syndrome	Likely pathogenic (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98811799.	NM_033380.3(COL4A5):c.4291_4297delinsCT (p.Asp1431fs) GRCh37: ChrX:107929335-107929341 GRCh38: ChrX:108686105-108686111	COL4A5	D1425fs, D1431fs	Alport syndrome	Likely pathogenic (May 31, 2018)	no assertion criteria provided
Select item 988116100.	NM_033380.3(COL4A5):c.276+2dup GRCh37: ChrX:107807157-107807158 GRCh38: ChrX:108563927-108563928	COL4A5		Alport syndrome	Likely pathogenic (Aug 27, 2018)	no assertion criteria provided

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