ClinVar for MedGen (Select 1648334) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25853221.	NM_000092.5(COL4A4):c.2880dup (p.Asp961fs) GRCh37: Chr2:227917108-227917109 GRCh38: Chr2:227052392-227052393	COL4A4	D961fs	Autosomal recessive Alport syndrome	Likely pathogenic	criteria provided, single submitter
Select item 25853212.	NM_000091.5(COL4A3):c.4547G>A (p.Arg1516Gln) GRCh37: Chr2:228173699 GRCh38: Chr2:227308983	COL4A3, MFF-DT	R1516Q	Autosomal recessive Alport syndrome, Benign familial hematuria	Uncertain significance	criteria provided, single submitter
Select item 25827483.	NM_000092.5(COL4A4):c.4523-1G>A GRCh37: Chr2:227873021 GRCh38: Chr2:227008305	COL4A4		Autosomal recessive Alport syndrome	Pathogenic (Oct 9, 2023)	no assertion criteria provided
Select item 25771084.	NM_000091.5(COL4A3):c.1150G>A (p.Gly384Arg) GRCh37: Chr2:228125833 GRCh38: Chr2:227261117	COL4A3, MFF-DT	G384R	Autosomal recessive Alport syndrome	Likely pathogenic (Jul 21, 2023)	criteria provided, single submitter
Select item 25724705.	NM_000091.5(COL4A3):c.3427G>A (p.Gly1143Arg) GRCh37: Chr2:228159688 GRCh38: Chr2:227294972	COL4A3, MFF-DT	G1143R	Autosomal recessive Alport syndrome	Likely pathogenic	criteria provided, single submitter
Select item 25724316.	NM_000091.5(COL4A3):c.2057G>A (p.Gly686Asp) GRCh37: Chr2:228142201 GRCh38: Chr2:227277485	COL4A3, MFF-DT	G686D	Autosomal recessive Alport syndrome	Uncertain significance	criteria provided, single submitter
Select item 25064917.	NM_000091.5(COL4A3):c.1097G>A (p.Gly366Glu) GRCh37: Chr2:228124576 GRCh38: Chr2:227259860	COL4A3, MFF-DT	G366E	Autosomal recessive Alport syndrome	Pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 25064908.	NM_000091.5(COL4A3):c.2480G>A (p.Gly827Glu) GRCh37: Chr2:228145714 GRCh38: Chr2:227280998	COL4A3, MFF-DT	G827E	Autosomal recessive Alport syndrome	Likely pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 25061019.	NM_000092.5(COL4A4):c.139del (p.Cys47fs) GRCh37: Chr2:228004930 GRCh38: Chr2:227140214	COL4A4	C47fs	Autosomal recessive Alport syndrome	Pathogenic (May 11, 2023)	criteria provided, single submitter
Select item 250385610.	NM_000092.5(COL4A4):c.2851G>A (p.Gly951Arg) GRCh37: Chr2:227919319 GRCh38: Chr2:227054603	COL4A4	G951R	Autosomal recessive Alport syndrome	Likely pathogenic (Apr 14, 2023)	criteria provided, single submitter
Select item 244568211.	NM_000091.5(COL4A3):c.3212G>C (p.Gly1071Ala) GRCh37: Chr2:228157908 GRCh38: Chr2:227293192	COL4A3, MFF-DT	G1071A	Autosomal recessive Alport syndrome	Likely pathogenic (Feb 27, 2023)	criteria provided, single submitter
Select item 244435812.	NM_000092.5(COL4A4):c.1666A>G (p.Lys556Glu) GRCh37: Chr2:227946861 GRCh38: Chr2:227082145	COL4A4	K556E	Autosomal recessive Alport syndrome	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 244427513.	NM_000091.5(COL4A3):c.4812C>A (p.Cys1604Ter) GRCh37: Chr2:228175548 GRCh38: Chr2:227310832	COL4A3, MFF-DT	C1604*	Autosomal recessive Alport syndrome	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244422514.	NM_000092.5(COL4A4):c.1459+1G>A GRCh37: Chr2:227954583 GRCh38: Chr2:227089867	COL4A4		Autosomal recessive Alport syndrome	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244303315.	NM_000091.5(COL4A3):c.814C>T (p.Pro272Ser) GRCh37: Chr2:228118876 GRCh38: Chr2:227254160	COL4A3, MFF-DT	P272S	Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome	Uncertain significance (Feb 28, 2023)	criteria provided, single submitter
Select item 244210816.	NM_000092.5(COL4A4):c.2155G>C (p.Gly719Arg) GRCh37: Chr2:227924861 GRCh38: Chr2:227060145	COL4A4	G719R	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 243154817.	NM_000092.5(COL4A4):c.4079C>T (p.Pro1360Leu) GRCh37: Chr2:227892620 GRCh38: Chr2:227027904	COL4A4	P1360L	Autosomal recessive Alport syndrome	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 242911918.	NM_000091.5(COL4A3):c.610-1G>A GRCh37: Chr2:228116051 GRCh38: Chr2:227251335	COL4A3, MFF-DT		Autosomal recessive Alport syndrome	Likely pathogenic (Jan 5, 2023)	criteria provided, single submitter
Select item 180968519.	NM_000092.5(COL4A4):c.2164+15_2164+16insTTTG GRCh37: Chr2:227924836-227924837 GRCh38: Chr2:227060120-227060121	COL4A4		Autosomal recessive Alport syndrome, Benign familial hematuria	Likely benign (Dec 21, 2021)	criteria provided, single submitter
Select item 180409820.	NM_000092.5(COL4A4):c.3699_3706+1del GRCh37: Chr2:227896863-227896871 GRCh38: Chr2:227032147-227032155	COL4A4		Autosomal recessive Alport syndrome	Pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 180409621.	NM_000091.5(COL4A3):c.2864G>T (p.Gly955Val) GRCh37: Chr2:228149044 GRCh38: Chr2:227284328	COL4A3, MFF-DT	G955V	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 180409422.	NM_000091.5(COL4A3):c.2558G>C (p.Gly853Ala) GRCh37: Chr2:228147150 GRCh38: Chr2:227282434	COL4A3, MFF-DT	G853A	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 180370723.	NM_000092.5(COL4A4):c.895G>A (p.Gly299Arg) GRCh37: Chr2:227967540 GRCh38: Chr2:227102824	COL4A4	G299R	Autosomal recessive Alport syndrome, not provided	Conflicting interpretations of pathogenicity (Apr 6, 2022)	criteria provided, conflicting interpretations
Select item 172695424.	NM_000092.5(COL4A4):c.4271_4272del (p.Gly1424fs) GRCh37: Chr2:227876958-227876959 GRCh38: Chr2:227012242-227012243	COL4A4	G1424fs	Autosomal recessive Alport syndrome	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172693025.	NM_000092.5(COL4A4):c.1400del (p.Pro467fs) GRCh37: Chr2:227954643 GRCh38: Chr2:227089927	COL4A4	P467fs	Autosomal recessive Alport syndrome	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172691526.	NM_000092.5(COL4A4):c.1748del (p.Pro583fs) GRCh37: Chr2:227945214 GRCh38: Chr2:227080498	COL4A4	P583fs	Autosomal recessive Alport syndrome	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172686327.	NM_000092.5(COL4A4):c.2197G>T (p.Gly733Ter) GRCh37: Chr2:227924307 GRCh38: Chr2:227059591	COL4A4	G733*	Autosomal recessive Alport syndrome	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172685128.	NM_000092.5(COL4A4):c.75_76del (p.Leu26fs) GRCh37: Chr2:228009270-228009271 GRCh38: Chr2:227144554-227144555	COL4A4	L26fs	Autosomal recessive Alport syndrome	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172683829.	NM_000091.5(COL4A3):c.4634_4635del (p.Ile1545fs) GRCh37: Chr2:228173782-228173783 GRCh38: Chr2:227309066-227309067	COL4A3, MFF-DT	I1545fs	Autosomal recessive Alport syndrome	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172680530.	NM_000092.5(COL4A4):c.3281del (p.Gly1094fs) GRCh37: Chr2:227912199 GRCh38: Chr2:227047483	COL4A4	G1094fs	Autosomal recessive Alport syndrome	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 172677531.	NM_000092.5(COL4A4):c.487dup (p.Leu163fs) GRCh37: Chr2:227983362-227983363 GRCh38: Chr2:227118646-227118647	COL4A4	L163fs	Autosomal recessive Alport syndrome	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172677332.	NM_000092.5(COL4A4):c.3039_3040del (p.His1013fs) GRCh37: Chr2:227915803-227915804 GRCh38: Chr2:227051087-227051088	COL4A4	H1013fs	Autosomal recessive Alport syndrome	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172675433.	NM_000091.5(COL4A3):c.4004del (p.Pro1335fs) GRCh37: Chr2:228168622 GRCh38: Chr2:227303906	COL4A3, MFF-DT	P1335fs	Autosomal recessive Alport syndrome	Likely pathogenic (Dec 31, 2021)	criteria provided, single submitter
Select item 172671634.	NM_000091.5(COL4A3):c.1361del (p.Pro454fs) GRCh37: Chr2:228131177 GRCh38: Chr2:227266461	COL4A3, MFF-DT	P454fs	Autosomal recessive Alport syndrome	Likely pathogenic (Dec 31, 2021)	criteria provided, single submitter
Select item 172664735.	NM_000092.5(COL4A4):c.171T>A (p.Cys57Ter) GRCh37: Chr2:228004898 GRCh38: Chr2:227140182	COL4A4	C57*	Autosomal recessive Alport syndrome	Likely pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 172659536.	NM_000092.5(COL4A4):c.640G>T (p.Gly214Ter) GRCh37: Chr2:227973957 GRCh38: Chr2:227109241	COL4A4	G214*	Autosomal recessive Alport syndrome	Likely pathogenic (Dec 27, 2021)	criteria provided, single submitter
Select item 172656237.	NM_000091.5(COL4A3):c.2950A>T (p.Lys984Ter) GRCh37: Chr2:228153934 GRCh38: Chr2:227289218	COL4A3, MFF-DT	K984*	Autosomal recessive Alport syndrome	Likely pathogenic (Dec 21, 2021)	criteria provided, single submitter
Select item 172653438.	NM_000092.5(COL4A4):c.2297_2298del (p.His766fs) GRCh37: Chr2:227924206-227924207 GRCh38: Chr2:227059490-227059491	COL4A4	H766fs	Autosomal recessive Alport syndrome	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 172642939.	NM_000092.5(COL4A4):c.4208C>G (p.Ser1403Ter) GRCh37: Chr2:227886772 GRCh38: Chr2:227022056	COL4A4	S1403*	Autosomal recessive Alport syndrome	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 172637040.	NM_000091.5(COL4A3):c.1879del (p.Gln627fs) GRCh37: Chr2:228137784 GRCh38: Chr2:227273068	COL4A3, MFF-DT	Q627fs	Autosomal recessive Alport syndrome	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 172636841.	NM_000091.5(COL4A3):c.737_738insATGTGTATAAGAGACA (p.Val246_Thr247insCysValTer) GRCh37: Chr2:228118326-228118327 GRCh38: Chr2:227253610-227253611	COL4A3, MFF-DT		Autosomal recessive Alport syndrome	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 172636142.	NM_000091.5(COL4A3):c.1507A>T (p.Arg503Ter) GRCh37: Chr2:228134628 GRCh38: Chr2:227269912	COL4A3, MFF-DT	R503*	Autosomal recessive Alport syndrome	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 172633943.	NM_000091.5(COL4A3):c.4298del (p.Gly1433fs) GRCh37: Chr2:228172470 GRCh38: Chr2:227307754	COL4A3, MFF-DT	G1433fs	Autosomal recessive Alport syndrome	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 172631844.	NM_000091.5(COL4A3):c.304dup (p.Ser102fs) GRCh37: Chr2:228109687-228109688 GRCh38: Chr2:227244971-227244972	COL4A3, MFF-DT	S102fs	Autosomal recessive Alport syndrome	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 172624145.	NM_000092.5(COL4A4):c.727G>T (p.Gly243Ter) GRCh37: Chr2:227973305 GRCh38: Chr2:227108589	COL4A4	G243*	Autosomal recessive Alport syndrome	Likely pathogenic (May 30, 2022)	criteria provided, single submitter
Select item 172618846.	NM_000091.5(COL4A3):c.4625_4626del (p.Glu1542fs) GRCh37: Chr2:228173776-228173777 GRCh38: Chr2:227309060-227309061	COL4A3, MFF-DT	E1542fs	Autosomal recessive Alport syndrome	Likely pathogenic (May 21, 2022)	criteria provided, single submitter
Select item 172615147.	NM_000091.5(COL4A3):c.3327_3330del (p.Gly1110fs) GRCh37: Chr2:228158022-228158025 GRCh38: Chr2:227293306-227293309	COL4A3, MFF-DT	G1110fs	Autosomal recessive Alport syndrome	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 172614648.	NM_000092.5(COL4A4):c.1850dup (p.Leu618fs) GRCh37: Chr2:227942746-227942747 GRCh38: Chr2:227078030-227078031	COL4A4	L618fs	Autosomal recessive Alport syndrome	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 172613549.	NM_000092.5(COL4A4):c.3005dup (p.Glu1003fs) GRCh37: Chr2:227915837-227915838 GRCh38: Chr2:227051121-227051122	COL4A4	E1003fs	Autosomal recessive Alport syndrome	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 172611350.	NM_000092.5(COL4A4):c.1809_1813del (p.Asp603fs) GRCh37: Chr2:227942784-227942788 GRCh38: Chr2:227078068-227078072	COL4A4	D603fs	Autosomal recessive Alport syndrome	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 172610851.	NM_000091.5(COL4A3):c.803dup (p.Glu269fs) GRCh37: Chr2:228118862-228118863 GRCh38: Chr2:227254146-227254147	COL4A3, MFF-DT	E269fs	Autosomal recessive Alport syndrome	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 172608252.	NM_000092.5(COL4A4):c.3194_3195del (p.Asp1065fs) GRCh37: Chr2:227914803-227914804 GRCh38: Chr2:227050087-227050088	COL4A4	D1065fs	Autosomal recessive Alport syndrome	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 172607353.	NM_000092.5(COL4A4):c.3466dup (p.Gln1156fs) GRCh37: Chr2:227906902-227906903 GRCh38: Chr2:227042186-227042187	COL4A4	Q1156fs	Autosomal recessive Alport syndrome	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 172602854.	NM_000091.5(COL4A3):c.3647del (p.Gly1216fs) GRCh37: Chr2:228162470 GRCh38: Chr2:227297754	COL4A3, MFF-DT	G1216fs	Autosomal recessive Alport syndrome	Likely pathogenic (May 7, 2022)	criteria provided, single submitter
Select item 172601155.	NM_000092.5(COL4A4):c.2672_2673insCATCATC (p.Pro892fs) GRCh37: Chr2:227920704-227920705 GRCh38: Chr2:227055988-227055989	COL4A4	P892fs	Autosomal recessive Alport syndrome	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 172598356.	NM_000092.5(COL4A4):c.2211delinsTGCTAATTC (p.Ser738fs) GRCh37: Chr2:227924293 GRCh38: Chr2:227059577	COL4A4	S738fs	Autosomal recessive Alport syndrome	Likely pathogenic (Apr 29, 2022)	criteria provided, single submitter
Select item 172598057.	NM_000091.5(COL4A3):c.94_95del (p.Val32fs) GRCh37: Chr2:228102687-228102688 GRCh38: Chr2:227237971-227237972	COL4A3, MFF-DT	V32fs	Autosomal recessive Alport syndrome	Likely pathogenic (Apr 29, 2022)	criteria provided, single submitter
Select item 172597058.	NM_000091.5(COL4A3):c.4307del (p.Gly1436fs) GRCh37: Chr2:228172479 GRCh38: Chr2:227307763	COL4A3, MFF-DT	G1436fs	Autosomal recessive Alport syndrome	Likely pathogenic (Dec 8, 2021)	criteria provided, single submitter
Select item 172596259.	NM_000092.5(COL4A4):c.3244_3245delinsT (p.Gly1082fs) GRCh37: Chr2:227912235-227912236 GRCh38: Chr2:227047519-227047520	COL4A4	G1082fs	Autosomal recessive Alport syndrome	Likely pathogenic (Apr 23, 2022)	criteria provided, single submitter
Select item 172595860.	NM_000092.5(COL4A4):c.1543G>T (p.Gly515Ter) GRCh37: Chr2:227953449 GRCh38: Chr2:227088733	COL4A4	G515*	Autosomal recessive Alport syndrome	Likely pathogenic (Apr 23, 2022)	criteria provided, single submitter
Select item 172588061.	NM_000092.5(COL4A4):c.1268del (p.Gly423fs) GRCh37: Chr2:227958942 GRCh38: Chr2:227094226	COL4A4	G423fs	Autosomal recessive Alport syndrome	Likely pathogenic (Apr 4, 2022)	criteria provided, single submitter
Select item 172584462.	NM_000092.5(COL4A4):c.2672_2680delinsT (p.Gly891fs) GRCh37: Chr2:227920697-227920705 GRCh38: Chr2:227055981-227055989	COL4A4	G891fs	Autosomal recessive Alport syndrome	Likely pathogenic (Apr 3, 2022)	criteria provided, single submitter
Select item 172580263.	NM_000091.5(COL4A3):c.4240A>T (p.Lys1414Ter) GRCh37: Chr2:228169787 GRCh38: Chr2:227305071	COL4A3, MFF-DT	K1414*	Autosomal recessive Alport syndrome	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 172577664.	NM_000092.5(COL4A4):c.1153G>T (p.Gly385Ter) GRCh37: Chr2:227963461 GRCh38: Chr2:227098745	COL4A4	G385*	Autosomal recessive Alport syndrome	Likely pathogenic (Dec 7, 2021)	criteria provided, single submitter
Select item 172577565.	NM_000092.5(COL4A4):c.3719del (p.Pro1240fs) GRCh37: Chr2:227896759 GRCh38: Chr2:227032043	COL4A4	P1240fs	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 172575466.	NM_000092.5(COL4A4):c.186dup (p.Ser63fs) GRCh37: Chr2:228004882-228004883 GRCh38: Chr2:227140166-227140167	COL4A4	S63fs	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 172572067.	NM_000092.5(COL4A4):c.3130_3132delinsT (p.Pro1044fs) GRCh37: Chr2:227915711-227915713 GRCh38: Chr2:227050995-227050997	COL4A4	P1044fs	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 172570168.	NM_000092.5(COL4A4):c.3626_3627del (p.Lys1209fs) GRCh37: Chr2:227896943-227896944 GRCh38: Chr2:227032227-227032228	COL4A4	K1209fs	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 172564769.	NM_000092.5(COL4A4):c.913G>T (p.Gly305Ter) GRCh37: Chr2:227967522 GRCh38: Chr2:227102806	COL4A4	G305*	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172560270.	NM_000092.5(COL4A4):c.3594del (p.Pro1199fs) GRCh37: Chr2:227896976 GRCh38: Chr2:227032260	COL4A4	P1199fs	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172557371.	NM_000091.5(COL4A3):c.4559C>A (p.Ser1520Ter) GRCh37: Chr2:228173711 GRCh38: Chr2:227308995	COL4A3, MFF-DT	S1520*	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172555472.	NM_000092.5(COL4A4):c.2207del (p.Lys736fs) GRCh37: Chr2:227924297 GRCh38: Chr2:227059581	COL4A4	K736fs	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172555373.	NM_000092.5(COL4A4):c.3424G>T (p.Gly1142Ter) GRCh37: Chr2:227906945 GRCh38: Chr2:227042229	COL4A4	G1142*	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172554174.	NM_000091.5(COL4A3):c.2170G>T (p.Gly724Ter) GRCh37: Chr2:228144553 GRCh38: Chr2:227279837	COL4A3, MFF-DT	G724*	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172554075.	NM_000092.5(COL4A4):c.3297del (p.Phe1099fs) GRCh37: Chr2:227907893 GRCh38: Chr2:227043177	COL4A4	F1099fs	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172553376.	NM_000091.5(COL4A3):c.3968_3970delinsTT (p.Asn1323fs) GRCh37: Chr2:228168587-228168589 GRCh38: Chr2:227303871-227303873	COL4A3, MFF-DT	N1323fs	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172552277.	NM_000091.5(COL4A3):c.1662_1663del (p.Asp555fs) GRCh37: Chr2:228135571-228135572 GRCh38: Chr2:227270855-227270856	COL4A3, MFF-DT	D555fs	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 172546578.	NM_000092.5(COL4A4):c.3177del (p.Gly1060fs) GRCh37: Chr2:227914821 GRCh38: Chr2:227050105	COL4A4	G1060fs	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 25, 2022)	criteria provided, single submitter
Select item 172542079.	NM_000092.5(COL4A4):c.2532T>A (p.Tyr844Ter) GRCh37: Chr2:227922168 GRCh38: Chr2:227057452	COL4A4	Y844*	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 20, 2022)	criteria provided, single submitter
Select item 172541980.	NM_000091.5(COL4A3):c.1015_1016insTGAAA (p.Gly339fs) GRCh37: Chr2:228122346-228122347 GRCh38: Chr2:227257630-227257631	COL4A3, MFF-DT	G339fs	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 20, 2022)	criteria provided, single submitter
Select item 172541781.	NM_000092.5(COL4A4):c.1554del (p.Leu519fs) GRCh37: Chr2:227953438 GRCh38: Chr2:227088722	COL4A4	L519fs	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 20, 2022)	criteria provided, single submitter
Select item 172534682.	NM_000091.5(COL4A3):c.643A>T (p.Lys215Ter) GRCh37: Chr2:228116085 GRCh38: Chr2:227251369	COL4A3, MFF-DT	K215*	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 17, 2022)	criteria provided, single submitter
Select item 172527683.	NM_000091.5(COL4A3):c.3292G>T (p.Gly1098Ter) GRCh37: Chr2:228157988 GRCh38: Chr2:227293272	COL4A3, MFF-DT	G1098*	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 172524884.	NM_000092.5(COL4A4):c.3755del (p.Lys1252fs) GRCh37: Chr2:227896723 GRCh38: Chr2:227032007	COL4A4	K1252fs	Autosomal recessive Alport syndrome	Likely pathogenic (Dec 2, 2021)	criteria provided, single submitter
Select item 172522985.	NM_000092.5(COL4A4):c.556C>T (p.Gln186Ter) GRCh37: Chr2:227979346 GRCh38: Chr2:227114630	COL4A4	Q186*	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 172521586.	NM_000092.5(COL4A4):c.3000_3004del (p.Gly1002fs) GRCh37: Chr2:227915839-227915843 GRCh38: Chr2:227051123-227051127	COL4A4	G1002fs	Autosomal recessive Alport syndrome	Likely pathogenic (Dec 2, 2021)	criteria provided, single submitter
Select item 172516787.	NM_000091.5(COL4A3):c.2444dup (p.Ala816fs) GRCh37: Chr2:228145674-228145675 GRCh38: Chr2:227280958-227280959	COL4A3, MFF-DT	A816fs	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 11, 2022)	criteria provided, single submitter
Select item 172510288.	NM_000091.5(COL4A3):c.2602G>T (p.Gly868Ter) GRCh37: Chr2:228147194 GRCh38: Chr2:227282478	COL4A3, MFF-DT	G868*	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 8, 2022)	criteria provided, single submitter
Select item 172505189.	NM_000091.5(COL4A3):c.4710T>A (p.Cys1570Ter) GRCh37: Chr2:228173989 GRCh38: Chr2:227309273	COL4A3, MFF-DT	C1570*	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 6, 2022)	criteria provided, single submitter
Select item 172504190.	NM_000091.5(COL4A3):c.1767_1773del (p.Ser589fs) GRCh37: Chr2:228137669-228137675 GRCh38: Chr2:227272953-227272959	COL4A3, MFF-DT	S589fs	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 5, 2022)	criteria provided, single submitter
Select item 172500291.	NM_000091.5(COL4A3):c.570del (p.Pro191fs) GRCh37: Chr2:228115876 GRCh38: Chr2:227251160	COL4A3, MFF-DT	P191fs	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 4, 2022)	criteria provided, single submitter
Select item 172494792.	NM_000091.5(COL4A3):c.4615A>T (p.Arg1539Ter) GRCh37: Chr2:228173767 GRCh38: Chr2:227309051	COL4A3, MFF-DT	R1539*	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 172494193.	NM_000092.5(COL4A4):c.1444_1446delinsTC (p.Pro482fs) GRCh37: Chr2:227954597-227954599 GRCh38: Chr2:227089881-227089883	COL4A4	P482fs	Autosomal recessive Alport syndrome	Likely pathogenic (Nov 25, 2021)	criteria provided, single submitter
Select item 172492594.	NM_000091.5(COL4A3):c.1572dup (p.Pro525fs) GRCh37: Chr2:228134690-228134691 GRCh38: Chr2:227269974-227269975	COL4A3, MFF-DT	P525fs	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 172489995.	NM_000091.5(COL4A3):c.2870del (p.Pro957fs) GRCh37: Chr2:228149049 GRCh38: Chr2:227284333	COL4A3, MFF-DT	P957fs	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 172487596.	NM_000091.5(COL4A3):c.3749del (p.Pro1250fs) GRCh37: Chr2:228162571 GRCh38: Chr2:227297855	COL4A3, MFF-DT	P1250fs	Autosomal recessive Alport syndrome	Likely pathogenic (Nov 23, 2021)	criteria provided, single submitter
Select item 172487197.	NM_000091.5(COL4A3):c.2673_2676delinsATTTTCGA (p.Gly892fs) GRCh37: Chr2:228148499-228148502 GRCh38: Chr2:227283783-227283786	COL4A3, MFF-DT	G892fs	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 172486598.	NM_000092.5(COL4A4):c.3058A>T (p.Lys1020Ter) GRCh37: Chr2:227915785 GRCh38: Chr2:227051069	COL4A4	K1020*	Autosomal recessive Alport syndrome	Likely pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 172481699.	NM_000091.5(COL4A3):c.615del (p.Pro206fs) GRCh37: Chr2:228116055 GRCh38: Chr2:227251339	COL4A3, MFF-DT	P206fs	Autosomal recessive Alport syndrome	Likely pathogenic (Feb 28, 2022)	criteria provided, single submitter
Select item 1724804100.	NM_000092.5(COL4A4):c.2241del (p.Gly748fs) GRCh37: Chr2:227924263 GRCh38: Chr2:227059547	COL4A4	G748fs	Autosomal recessive Alport syndrome	Likely pathogenic (Feb 28, 2022)	criteria provided, single submitter

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