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Items: 1 to 100 of 406

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr2:227973339
GRCh38:
Chr2:227108623
COL4A4Benign familial hematuriaLikely pathogenic
(Nov 18, 2022)		criteria provided, single submitter
2.
GRCh37:
Chr2:227924120
GRCh38:
Chr2:227059404
COL4A4Benign familial hematuriaLikely pathogenic
(Feb 23, 2023)		criteria provided, single submitter
3.
GRCh37:
Chr2:227915788
GRCh38:
Chr2:227051072
COL4A4E1019Knot provided, Benign familial hematuriaUncertain significance
(Feb 22, 2022)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr2:227924836-227924837
GRCh38:
Chr2:227060120-227060121
COL4A4Autosomal recessive Alport syndrome, Benign familial hematuriaLikely benign
(Dec 21, 2021)		criteria provided, single submitter
5.
GRCh37:
Chr2:228012189-228012190
GRCh38:
Chr2:227147473-227147474
COL4A4L4fsBenign familial hematuriaLikely pathogenic
(Jul 29, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr2:227924120
GRCh38:
Chr2:227059404
COL4A4Benign familial hematuriaLikely pathogenic
(May 3, 2022)		criteria provided, single submitter
7.
GRCh37:
Chr2:227872733
GRCh38:
Chr2:227008017
COL4A4Benign familial hematuriaLikely pathogenic
(Mar 29, 2022)		criteria provided, single submitter
8.
GRCh37:
Chr2:227954638
GRCh38:
Chr2:227089922
COL4A4G469RBenign familial hematuriaLikely pathogenic
(Jan 18, 2022)		criteria provided, single submitter
9.
GRCh37:
Chr2:227945211
GRCh38:
Chr2:227080495
COL4A4G584EBenign familial hematuriaLikely pathogenic
(Jun 30, 2022)		criteria provided, single submitter
10.
GRCh37:
Chr2:227896923
GRCh38:
Chr2:227032207
COL4A4G1216EBenign familial hematuriaLikely pathogenic
(Apr 26, 2022)		criteria provided, single submitter
11.
GRCh37:
Chr2:227966615
GRCh38:
Chr2:227101899
COL4A4G314DAutosomal recessive Alport syndrome, Benign familial hematuriaLikely pathogenic
(Aug 3, 2022)		criteria provided, single submitter
12.
GRCh37:
Chr2:227983360-227983361
GRCh38:
Chr2:227118644-227118645
COL4A4G164fsBenign familial hematuriaLikely pathogenic
(May 22, 2022)		criteria provided, single submitter
13.
GRCh37:
Chr2:227942781-227942790
GRCh38:
Chr2:227078065-227078074
COL4A4D603fsBenign familial hematuriaLikely pathogenic
(May 22, 2022)		criteria provided, single submitter
14.
GRCh37:
Chr2:227922246-227922247
GRCh38:
Chr2:227057530-227057531
COL4A4V820fsBenign familial hematuriaLikely pathogenic
(Dec 17, 2020)		criteria provided, single submitter
15.
GRCh37:
Chr2:228131709
GRCh38:
Chr2:227266993
COL4A3, MFF-DTG470EAutosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, Benign familial hematuria,
not provided, Autosomal dominant Alport syndrome		Conflicting interpretations of pathogenicity
(Apr 19, 2022)		criteria provided, conflicting interpretations
16.
GRCh37:
Chr2:227895273
GRCh38:
Chr2:227030557
COL4A4L1287VAutosomal recessive Alport syndrome, Benign familial hematuria, not provided
Conflicting interpretations of pathogenicity
(Aug 20, 2022)		criteria provided, conflicting interpretations
17.
GRCh37:
Chr2:228112259
GRCh38:
Chr2:227247543
COL4A3, MFF-DTAutosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, Benign familial hematuria,
not provided		Benign/Likely benign
(Mar 31, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr2:227954567-227954568
GRCh38:
Chr2:227089851-227089852
COL4A4Autosomal recessive Alport syndrome, Benign familial hematuria, not provided
Likely benign
(Oct 23, 2021)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr2:228157900
GRCh38:
Chr2:227293184
MFF-DT, COL4A3not provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria		Likely benign
(Sep 18, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr2:227924832-227924833
GRCh38:
Chr2:227060116-227060117
COL4A4Autosomal recessive Alport syndrome, Benign familial hematuria, not provided
Likely benign
(May 9, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr2:227886907
GRCh38:
Chr2:227022191
COL4A4not provided, Autosomal recessive Alport syndrome, Benign familial hematuria
Likely benign
(Sep 16, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr2:228157894
GRCh38:
Chr2:227293178
COL4A3, MFF-DTAutosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, Benign familial hematuria,
not provided		Likely benign
(Sep 17, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr2:228128656
GRCh38:
Chr2:227263940
COL4A3, MFF-DTnot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria		Likely benign
(Apr 8, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr2:227898133
GRCh38:
Chr2:227033417
COL4A4Autosomal recessive Alport syndrome, Benign familial hematuria, not provided
Likely benign
(Dec 16, 2021)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr2:228145591
GRCh38:
Chr2:227280875
COL4A3, MFF-DTnot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria		Likely benign
(Apr 27, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr2:227872143
GRCh38:
Chr2:227007427
COL4A4not provided, Autosomal recessive Alport syndrome, Benign familial hematuria
Likely benign
(Sep 13, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr2:228122313
GRCh38:
Chr2:227257597
COL4A3, MFF-DTAutosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, Benign familial hematuria,
not provided		Likely benign
(Aug 3, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr2:228110650
GRCh38:
Chr2:227245934
COL4A3, MFF-DTnot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria		Likely benign
(Jan 27, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr2:228119448
GRCh38:
Chr2:227254732
COL4A3, MFF-DTnot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria		Benign/Likely benign
(Sep 23, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr2:228158048
GRCh38:
Chr2:227293332
COL4A3, MFF-DTAutosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, Benign familial hematuria,
not provided		Likely benign
(Jul 25, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr2:228009292
GRCh38:
Chr2:227144576
COL4A4Autosomal recessive Alport syndrome, Benign familial hematuria, not provided
Likely benign
(Aug 1, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr2:227954690
GRCh38:
Chr2:227089974
COL4A4Autosomal recessive Alport syndrome, Benign familial hematuria, not provided
Likely benign
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr2:227942594-227942595
GRCh38:
Chr2:227077878-227077879
COL4A4Autosomal recessive Alport syndrome, Benign familial hematuria, not provided
Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr2:228125786
GRCh38:
Chr2:227261070
COL4A3, MFF-DTnot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria		Likely benign
(Mar 18, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr2:228142283
GRCh38:
Chr2:227277567
COL4A3, MFF-DTnot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria		Likely benign
(May 17, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr2:227963438
GRCh38:
Chr2:227098722
COL4A4Autosomal recessive Alport syndrome, Benign familial hematuria, not provided
Likely benign
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr2:227872842
GRCh38:
Chr2:227008126
COL4A4Benign familial hematuria, Autosomal recessive Alport syndrome, not provided
Likely benign
(Sep 12, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr2:227979366
GRCh38:
Chr2:227114650
COL4A4L179*Benign familial hematuriaLikely pathogenic
(Mar 22, 2022)		criteria provided, single submitter
39.
GRCh37:
Chr2:227967898
GRCh38:
Chr2:227103182
COL4A4P278SBenign familial hematuriaUncertain significance
(Mar 22, 2022)		criteria provided, single submitter
40.
GRCh37:
Chr2:227963405
GRCh38:
Chr2:227098689
COL4A4Benign familial hematuria, Autosomal recessive Alport syndrome, not provided
Uncertain significance
(Mar 26, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr2:228115877
GRCh38:
Chr2:227251161
COL4A3, MFF-DTF190Lnot provided, Benign familial hematuria, Autosomal dominant Alport syndrome,
Autosomal recessive Alport syndrome		Conflicting interpretations of pathogenicity
(Aug 16, 2022)		criteria provided, conflicting interpretations
42.
GRCh37:
Chr2:228145262
GRCh38:
Chr2:227280546
COL4A3, MFF-DTG777Vnot provided, Benign familial hematuria, Autosomal dominant Alport syndrome,
Autosomal recessive Alport syndrome		Pathogenic/Likely pathogenic
(Jan 25, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr2:228135504
GRCh38:
Chr2:227270788
COL4A3, MFF-DTG532Snot provided, Benign familial hematuria, Autosomal dominant Alport syndrome,
Autosomal recessive Alport syndrome		Likely pathogenic
(Mar 12, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr2:228104949
GRCh38:
Chr2:227240233
COL4A3, MFF-DTnot provided, Benign familial hematuria, Autosomal dominant Alport syndrome,
Autosomal recessive Alport syndrome		Likely pathogenic
(Mar 22, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr2:228124594
GRCh38:
Chr2:227259878
COL4A3, MFF-DTnot provided, Benign familial hematuria, Autosomal dominant Alport syndrome,
Autosomal recessive Alport syndrome		Likely pathogenic
(Mar 29, 2022)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr2:227958889
GRCh38:
Chr2:227094173
COL4A4P441TBenign familial hematuria, Autosomal recessive Alport syndrome, not provided
Uncertain significance
(Aug 15, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr2:228159724
GRCh38:
Chr2:227295008
COL4A3, MFF-DTG1155Snot provided, Benign familial hematuria, Autosomal dominant Alport syndrome,
Autosomal recessive Alport syndrome		Likely pathogenic
(Dec 26, 2021)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr2:227872735-227872736
GRCh38:
Chr2:227008019-227008020
COL4A4not provided, Benign familial hematuria, Autosomal recessive Alport syndrome
Uncertain significance
(Sep 13, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr2:228142177
GRCh38:
Chr2:227277461
COL4A3, MFF-DTS678YBenign familial hematuria, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
not provided		Uncertain significance
(Dec 21, 2021)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr2:228154805
GRCh38:
Chr2:227290089
COL4A3, MFF-DTnot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria		Likely pathogenic
(Jan 17, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr2:228131208
GRCh38:
Chr2:227266492
COL4A3, MFF-DTG464Enot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria		Likely pathogenic
(Sep 29, 2021)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr2:227953515-227953516
GRCh38:
Chr2:227088799-227088800
COL4A4A493fsnot provided, Autosomal recessive Alport syndrome, Benign familial hematuria
Pathogenic/Likely pathogenic
(Jun 9, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr2:227872896-227872897
GRCh38:
Chr2:227008180-227008181
COL4A4M1551fsnot provided, Autosomal recessive Alport syndrome, Benign familial hematuria
Pathogenic/Likely pathogenic
(Nov 14, 2021)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr2:227942741
GRCh38:
Chr2:227078025
COL4A4G619Dnot provided, Autosomal recessive Alport syndrome, Benign familial hematuria
Pathogenic
(May 9, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr2:228168620
GRCh38:
Chr2:227303904
COL4A3, MFF-DTG1334EAutosomal recessive Alport syndrome, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome, not provided		Pathogenic
(Mar 1, 2023)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr2:228159725
GRCh38:
Chr2:227295009
COL4A3, MFF-DTG1155DAutosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, Benign familial hematuria,
not provided		Pathogenic
(Oct 2, 2021)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr2:228153898-228153899
GRCh38:
Chr2:227289182-227289183
MFF-DT, COL4A3G973fsAutosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, Benign familial hematuria,
not provided		Pathogenic
(Jul 15, 2022)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr2:228012174
GRCh38:
Chr2:227147458
COL4A4M9KBenign familial hematuria, Autosomal recessive Alport syndrome, not provided
Uncertain significance
(Feb 16, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr2:228157929
GRCh38:
Chr2:227293213
COL4A3, MFF-DTD1078GBenign familial hematuria, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
not provided		Uncertain significance
(Aug 27, 2021)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr2:228128606
GRCh38:
Chr2:227263890
COL4A3, MFF-DTG421fsnot provided, Benign familial hematuria, Autosomal dominant Alport syndrome,
Autosomal recessive Alport syndrome		Pathogenic/Likely pathogenic
(Jul 18, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr2:228137832
GRCh38:
Chr2:227273116
COL4A3, MFF-DTBenign familial hematuria, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
not provided		Uncertain significance
(Mar 10, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr2:228148566
GRCh38:
Chr2:227283850
COL4A3, MFF-DTQ914KAutosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, Benign familial hematuria,
not provided		Conflicting interpretations of pathogenicity
(Jun 27, 2022)		criteria provided, conflicting interpretations
63.
GRCh37:
Chr2:228142198
GRCh38:
Chr2:227277482
COL4A3, MFF-DTP685Lnot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria		Uncertain significance
(Nov 19, 2021)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr2:228004905
GRCh38:
Chr2:227140189
COL4A4C55FAutosomal recessive Alport syndrome, Benign familial hematuria, not provided
Uncertain significance
(Mar 2, 2023)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr2:228159263
GRCh38:
Chr2:227294547
COL4A3, MFF-DTP1132HAutosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, Benign familial hematuria,
not provided		Uncertain significance
(Apr 19, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr2:227872931
GRCh38:
Chr2:227008215
COL4A4D1538NBenign familial hematuria, Autosomal recessive Alport syndrome, not provided
Uncertain significance
(Mar 17, 2023)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr2:227919436
GRCh38:
Chr2:227054720
COL4A4G912RBenign familial hematuria, not providedPathogenic/Likely pathogenic
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr2:227920729-227920730
GRCh38:
Chr2:227056013-227056014
COL4A4Benign familial hematuria, Autosomal recessive Alport syndrome, not provided
Uncertain significance
(May 6, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr2:228029467
GRCh38:
Chr2:227164751
COL4A3P9SBenign familial hematuria, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
not provided		Conflicting interpretations of pathogenicity
(Jul 6, 2022)		criteria provided, conflicting interpretations
70.
GRCh37:
Chr2:228162443
GRCh38:
Chr2:227297727
COL4A3, MFF-DTG1207RAutosomal recessive Alport syndrome, Benign familial hematuria, Autosomal dominant Alport syndrome,
not provided		Pathogenic
(May 17, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr2:228137762
GRCh38:
Chr2:227273046
COL4A3, MFF-DTG619EAutosomal recessive Alport syndrome, Benign familial hematuria, Autosomal dominant Alport syndrome,
not provided		Uncertain significance
(May 14, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr2:228012128
GRCh38:
Chr2:227147412
COL4A4Benign familial hematuria, not providedPathogenic/Likely pathogenic
(Mar 4, 2022)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr2:228118823
GRCh38:
Chr2:227254107
COL4A3, MFF-DTAutosomal recessive Alport syndrome, Benign familial hematuria, Autosomal dominant Alport syndrome,
not provided		Conflicting interpretations of pathogenicity
(Aug 23, 2022)		criteria provided, conflicting interpretations
74.
GRCh37:
Chr2:228109061
GRCh38:
Chr2:227244345
COL4A3, MFF-DTT87MAutosomal recessive Alport syndrome, Benign familial hematuria, Autosomal dominant Alport syndrome,
not provided		Conflicting interpretations of pathogenicity
(Aug 22, 2022)		criteria provided, conflicting interpretations
75.
GRCh37:
Chr2:228131189
GRCh38:
Chr2:227266473
COL4A3, MFF-DTG458Rnot provided, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome		Pathogenic/Likely pathogenic
(Oct 4, 2021)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr2:227976431
GRCh38:
Chr2:227111715
COL4A4Benign familial hematuria, Autosomal recessive Alport syndrome, not provided
Likely pathogenic
(Apr 10, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr2:227964331
GRCh38:
Chr2:227099615
COL4A4Benign familial hematuriaUncertain significance
(Mar 1, 2022)		criteria provided, single submitter
78.
GRCh37:
Chr2:227983419
GRCh38:
Chr2:227118703
COL4A4S144Lnot provided, Benign familial hematuria, Autosomal recessive Alport syndrome
Conflicting interpretations of pathogenicity
(Sep 26, 2022)		criteria provided, conflicting interpretations
79.
GRCh37:
Chr2:227973937-227973938
GRCh38:
Chr2:227109221-227109222
COL4A4Benign familial hematuriaLikely pathogenic
(Feb 21, 2022)		criteria provided, single submitter
80.
GRCh37:
Chr2:227886829
GRCh38:
Chr2:227022113
COL4A4A1384Vnot provided, Benign familial hematuriaConflicting interpretations of pathogenicity
(Jul 19, 2022)		criteria provided, conflicting interpretations
81.
GRCh37:
Chr2:228122352
GRCh38:
Chr2:227257636
COL4A3, MFF-DTR341CAutosomal dominant Alport syndrome, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome		Uncertain significance
(Feb 21, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr2:228162483
GRCh38:
Chr2:227297767
MFF-DT, COL4A3I1220Rnot provided, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome		Uncertain significance
(Feb 17, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr2:227917120
GRCh38:
Chr2:227052404
COL4A4G957RBenign familial hematuriaUncertain significance
(Jan 3, 2022)		criteria provided, single submitter
84.
GRCh37:
Chr2:228147090
GRCh38:
Chr2:227282374
COL4A3, MFF-DTG833DBenign familial hematuriaConflicting interpretations of pathogenicity
(Mar 28, 2022)		criteria provided, conflicting interpretations
85.
GRCh37:
Chr2:227953461
GRCh38:
Chr2:227088745
COL4A4Q511*Benign familial hematuria, Autosomal recessive Alport syndrome, not provided
Pathogenic/Likely pathogenic
(Aug 22, 2021)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr2:228012136
GRCh38:
Chr2:227147420
COL4A4G22SAutosomal recessive Alport syndrome, Benign familial hematuria, not provided
Uncertain significance
(Aug 15, 2021)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr2:228004936
GRCh38:
Chr2:227140220
COL4A4G45CAutosomal recessive Alport syndrome, Benign familial hematuria, not provided
Conflicting interpretations of pathogenicity
(Feb 18, 2022)		criteria provided, conflicting interpretations
88.
GRCh37:
Chr2:227872277
GRCh38:
Chr2:227007561
COL4A4G1613Rnot provided, Autosomal recessive Alport syndrome, Benign familial hematuria
Uncertain significance
(Jan 10, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr2:228157923
GRCh38:
Chr2:227293207
COL4A3, MFF-DTP1076LAutosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, Benign familial hematuria,
not provided		Uncertain significance
(Feb 5, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr2:228157948
GRCh38:
Chr2:227293232
COL4A3, MFF-DTE1084DAutosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, Benign familial hematuria,
not provided		Uncertain significance
(Dec 30, 2021)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr2:227942609
GRCh38:
Chr2:227077893
COL4A4Benign familial hematuriaLikely pathogenic
(Oct 18, 2021)		criteria provided, single submitter
92.
GRCh37:
Chr2:227917081
GRCh38:
Chr2:227052365
COL4A4Q970EAutosomal recessive Alport syndrome, Benign familial hematuria, not provided
Uncertain significance
(May 23, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr2:228115896
GRCh38:
Chr2:227251180
COL4A3, MFF-DTP196Lnot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria		Uncertain significance
(Nov 26, 2021)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr2:228012200
GRCh38:
Chr2:227147484
COL4A4not provided, Autosomal recessive Alport syndrome, Benign familial hematuria
Uncertain significance
(Feb 9, 2022)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr2:228141143
GRCh38:
Chr2:227276427
COL4A3, MFF-DTP657Lnot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria		Uncertain significance
(Feb 9, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr2:228029453
GRCh38:
Chr2:227164737
COL4A3R4QAutosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, Benign familial hematuria,
not provided		Uncertain significance
(Mar 17, 2023)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr2:228004878
GRCh38:
Chr2:227140162
COL4A4R64QAutosomal recessive Alport syndrome, Benign familial hematuria, not provided
Uncertain significance
(Feb 9, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr2:227907841
GRCh38:
Chr2:227043125
COL4A4P1117TBenign familial hematuriaUncertain significance
(Oct 6, 2021)		criteria provided, single submitter
99.
GRCh37:
Chr2:227919308
GRCh38:
Chr2:227054592
COL4A4Benign familial hematuriaPathogenic
(Mar 31, 2021)		criteria provided, single submitter
100.
GRCh37:
Chr2:227895329
GRCh38:
Chr2:227030613
COL4A4Benign familial hematuria, Autosomal recessive Alport syndrome, not provided
Benign/Likely benign
(Oct 4, 2022)		criteria provided, multiple submitters, no conflicts
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