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Items: 1 to 100 of 402

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:227895223
GRCh38:
Chr2:227030507
COL4A4G1304fsAutosomal dominant Alport syndromePathogenic
(Jun 12, 2023)
no assertion criteria provided
2.
GRCh37:
Chr2:227966622
GRCh38:
Chr2:227101906
COL4A4Autosomal dominant Alport syndromePathogenic
(May 11, 2023)
no assertion criteria provided
3.
GRCh37:
Chr2:228124566
GRCh38:
Chr2:227259850
COL4A3, MFF-DTG363WAutosomal dominant Alport syndromeLikely pathogenic
(Dec 19, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr2:228135670
GRCh38:
Chr2:227270954
COL4A3, MFF-DTAutosomal dominant Alport syndromeLikely pathogenic
(Nov 3, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr2:228149043
GRCh38:
Chr2:227284327
COL4A3, MFF-DTG955RAutosomal dominant Alport syndromeLikely pathogenic
(Feb 23, 2023)
criteria provided, single submitter
6.
GRCh37:
Chr2:228118876
GRCh38:
Chr2:227254160
COL4A3, MFF-DTP272SAutosomal recessive Alport syndrome, Autosomal dominant Alport syndromeUncertain significance
(Feb 28, 2023)
criteria provided, single submitter
7.
GRCh37:
Chr2:228148537
GRCh38:
Chr2:227283821
COL4A3, MFF-DTG904EAutosomal dominant Alport syndromeLikely pathogenic
(Jul 28, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr2:228137720
GRCh38:
Chr2:227273004
COL4A3, MFF-DTG605VAutosomal dominant Alport syndromeLikely pathogenic
(Jul 29, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr2:228110715
GRCh38:
Chr2:227245999
COL4A3, MFF-DTG124RAutosomal dominant Alport syndromeLikely pathogenic
(Mar 11, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr2:228155463
GRCh38:
Chr2:227290747
COL4A3, MFF-DTG1024VAutosomal dominant Alport syndromeUncertain significance
(Jul 11, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr2:228145262
GRCh38:
Chr2:227280546
COL4A3, MFF-DTG777DAutosomal dominant Alport syndromeLikely pathogenic
(Aug 3, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr2:228121069
GRCh38:
Chr2:227256353
COL4A3, MFF-DTG315DAutosomal dominant Alport syndromeLikely pathogenic
(Jun 14, 2022)
no assertion criteria provided
13.
GRCh37:
Chr2:228004904
GRCh38:
Chr2:227140188
COL4A4C55*Autosomal dominant Alport syndromePathogenic
(May 4, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr2:228131709
GRCh38:
Chr2:227266993
COL4A3, MFF-DTG470EAutosomal dominant Alport syndrome, not provided, Autosomal dominant Alport syndrome,
Autosomal recessive Alport syndrome, Benign familial hematuria
Conflicting interpretations of pathogenicity
(Apr 19, 2022)
criteria provided, conflicting interpretations
15.
GRCh37:
Chr2:228147240
GRCh38:
Chr2:227282524
COL4A3, MFF-DTG883EAutosomal dominant Alport syndromeUncertain significance
(Sep 3, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr2:227872782-227872783
GRCh38:
Chr2:227008066-227008067
COL4A4C1588fsAutosomal dominant Alport syndromeLikely pathogenic
(Oct 1, 2021)
criteria provided, single submitter
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:
Chr2:228157900
GRCh38:
Chr2:227293184
COL4A3, MFF-DTnot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria
Likely benign
(Sep 18, 2022)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr2:228157894
GRCh38:
Chr2:227293178
COL4A3, MFF-DTnot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria
Likely benign
(Sep 17, 2022)
criteria provided, multiple submitters, no conflicts
20.
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
21.
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
22.
GRCh37:
Chr2:228122313
GRCh38:
Chr2:227257597
COL4A3, MFF-DTnot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria
Likely benign
(Aug 3, 2022)
criteria provided, multiple submitters, no conflicts
23.
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
24.
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
25.
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
26.
GRCh37:
Chr2:228125786
GRCh38:
Chr2:227261070
COL4A3, MFF-DTnot provided, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome
Likely benign
(Mar 18, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr2:228142283
GRCh38:
Chr2:227277567
COL4A3, MFF-DTnot provided, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome
Likely benign
(May 17, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr2:228115877
GRCh38:
Chr2:227251161
COL4A3, MFF-DTF190Lnot provided, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome
Conflicting interpretations of pathogenicity
(Aug 16, 2022)
criteria provided, conflicting interpretations
29.
GRCh37:
Chr2:228145262
GRCh38:
Chr2:227280546
COL4A3, MFF-DTG777Vnot provided, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome
Pathogenic/Likely pathogenic
(Jan 25, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr2:228135504
GRCh38:
Chr2:227270788
COL4A3, MFF-DTG532Snot provided, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome
Likely pathogenic
(Mar 12, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr2:228104949
GRCh38:
Chr2:227240233
MFF-DT, COL4A3Autosomal dominant Alport syndrome, Benign familial hematuria, Autosomal recessive Alport syndrome,
not provided
Likely pathogenic
(Mar 22, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr2:228124594
GRCh38:
Chr2:227259878
MFF-DT, COL4A3not provided, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome
Likely pathogenic
(Mar 29, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr2:228159724
GRCh38:
Chr2:227295008
COL4A3, MFF-DTG1155SAutosomal dominant Alport syndrome, Benign familial hematuria, Autosomal recessive Alport syndrome,
not provided
Likely pathogenic
(Dec 26, 2021)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr2:228142177
GRCh38:
Chr2:227277461
COL4A3, MFF-DTS678Ynot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria
Uncertain significance
(Dec 21, 2021)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr2:228154805
GRCh38:
Chr2:227290089
COL4A3, MFF-DTAutosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, Benign familial hematuria,
not provided
Likely pathogenic
(Jan 17, 2022)
criteria provided, multiple submitters, no conflicts
36.
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
37.
GRCh37:
Chr2:228168620
GRCh38:
Chr2:227303904
COL4A3, MFF-DTG1334EAutosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, Benign familial hematuria,
not provided, Autosomal recessive Alport syndrome
Pathogenic
(Mar 1, 2023)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr2:228159725
GRCh38:
Chr2:227295009
COL4A3, MFF-DTG1155Dnot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria
Pathogenic
(Oct 2, 2021)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr2:228153898-228153899
GRCh38:
Chr2:227289182-227289183
COL4A3, MFF-DTG973fsnot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria
Pathogenic
(Jul 15, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr2:228157929
GRCh38:
Chr2:227293213
COL4A3, MFF-DTD1078Gnot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria
Uncertain significance
(Aug 27, 2021)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr2:228128606
GRCh38:
Chr2:227263890
COL4A3, MFF-DTG421fsnot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria
Pathogenic/Likely pathogenic
(Jul 18, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr2:228137832
GRCh38:
Chr2:227273116
COL4A3, MFF-DTnot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria
Uncertain significance
(Mar 10, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr2:228148566
GRCh38:
Chr2:227283850
MFF-DT, COL4A3Q914Knot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria
Conflicting interpretations of pathogenicity
(Jun 27, 2022)
criteria provided, conflicting interpretations
44.
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
45.
GRCh37:
Chr2:228159263
GRCh38:
Chr2:227294547
COL4A3, MFF-DTP1132Hnot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria
Uncertain significance
(Apr 19, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr2:228029467
GRCh38:
Chr2:227164751
COL4A3, LOC129935730P9Snot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria
Conflicting interpretations of pathogenicity
(Jul 6, 2022)
criteria provided, conflicting interpretations
47.
GRCh37:
Chr2:228162443
GRCh38:
Chr2:227297727
COL4A3, MFF-DTG1207Rnot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria
Pathogenic
(May 17, 2022)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr2:228137762
GRCh38:
Chr2:227273046
COL4A3, MFF-DTG619Enot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria
Uncertain significance
(May 14, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr2:228118823
GRCh38:
Chr2:227254107
COL4A3, MFF-DTnot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria
Conflicting interpretations of pathogenicity
(Aug 23, 2022)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr2:228109061
GRCh38:
Chr2:227244345
COL4A3, MFF-DTT87Mnot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria
Conflicting interpretations of pathogenicity
(Aug 22, 2022)
criteria provided, conflicting interpretations
51.
GRCh37:
Chr2:228131189
GRCh38:
Chr2:227266473
COL4A3, MFF-DTG458RAutosomal dominant Alport syndrome, Autosomal recessive Alport syndrome, Benign familial hematuria,
not provided
Pathogenic/Likely pathogenic
(Oct 4, 2021)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
ChrX:107834875
GRCh38:
ChrX:108591645
COL4A5not providedLikely pathogenic
(Dec 23, 2021)
criteria provided, single submitter
53.
GRCh37:
ChrX:107858141
GRCh38:
ChrX:108614911
COL4A5G799DAutosomal dominant Alport syndromeLikely pathogenic
(Feb 14, 2019)
no assertion criteria provided
54.
GRCh37:
Chr2:228144571
GRCh38:
Chr2:227279855
COL4A3, MFF-DTG730RAutosomal dominant Alport syndromeUncertain significance
(Feb 21, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr2:228115902
GRCh38:
Chr2:227251186
COL4A3, MFF-DTG198VAutosomal dominant Alport syndromeUncertain significance
(Feb 21, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr2:228173996
GRCh38:
Chr2:227309280
COL4A3, MFF-DTG1573SAutosomal dominant Alport syndromeUncertain significance
(Feb 21, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr2:228122352
GRCh38:
Chr2:227257636
COL4A3, MFF-DTR341CAutosomal dominant Alport syndrome, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria
Uncertain significance
(Feb 21, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr2:228111429
GRCh38:
Chr2:227246713
COL4A3, MFF-DTG139EAutosomal dominant Alport syndromeUncertain significance
(Feb 21, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr2:228148537
GRCh38:
Chr2:227283821
COL4A3, MFF-DTG904VAutosomal dominant Alport syndromeUncertain significance
(Feb 21, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr2:228162483
GRCh38:
Chr2:227297767
COL4A3, MFF-DTI1220Rnot provided, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
Benign familial hematuria
Uncertain significance
(Feb 17, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr2:227875185-227875202
GRCh38:
Chr2:227010469-227010486
COL4A4Autosomal dominant Alport syndrome, Autosomal recessive Alport syndromeLikely pathogenic
(Aug 13, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr2:228147176
GRCh38:
Chr2:227282460
COL4A3, MFF-DTG862RAutosomal dominant Alport syndromeLikely pathogenic
(Jan 3, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr2:228119423
GRCh38:
Chr2:227254707
COL4A3, MFF-DTG294RAutosomal dominant Alport syndromeLikely pathogenic
(Aug 2, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr2:228157923
GRCh38:
Chr2:227293207
COL4A3, MFF-DTP1076Lnot provided, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome
Uncertain significance
(Feb 5, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr2:228157948
GRCh38:
Chr2:227293232
COL4A3, MFF-DTE1084DAutosomal dominant Alport syndrome, Benign familial hematuria, Autosomal recessive Alport syndrome,
not provided
Uncertain significance
(Dec 30, 2021)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr2:228115896
GRCh38:
Chr2:227251180
COL4A3, MFF-DTP196Lnot provided, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome
Uncertain significance
(Nov 26, 2021)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr2:228141143
GRCh38:
Chr2:227276427
COL4A3, MFF-DTP657Lnot provided, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome
Uncertain significance
(Feb 9, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr2:228029453
GRCh38:
Chr2:227164737
COL4A3, LOC129935730R4QBenign familial hematuria, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome,
not provided
Uncertain significance
(Mar 17, 2023)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr2:228144518
GRCh38:
Chr2:227279802
COL4A3, MFF-DTG712VAutosomal dominant Alport syndromeLikely pathogenic
(Mar 25, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr2:228159661
GRCh38:
Chr2:227294945
COL4A3, MFF-DTnot provided, Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
Benign
(Jul 30, 2021)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr2:228147063
GRCh38:
Chr2:227282347
MFF-DT, COL4A3Autosomal dominant Alport syndrome, Benign familial hematuria, Autosomal recessive Alport syndrome,
not provided
Benign/Likely benign
(Oct 26, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr2:228115892
GRCh38:
Chr2:227251176
COL4A3, MFF-DTG195SAutosomal dominant Alport syndromeAffects
(Jul 7, 2021)
no assertion criteria provided
73.
GRCh37:
Chr2:228155592
GRCh38:
Chr2:227290876
COL4A3, MFF-DTP1067Lnot provided, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome
Uncertain significance
(Sep 16, 2021)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr2:228118277
GRCh38:
Chr2:227253561
COL4A3, MFF-DTG230Snot provided, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome
Likely pathogenic
(Apr 14, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr2:228172559
GRCh38:
Chr2:227307843
COL4A3, MFF-DTAutosomal recessive Alport syndrome, Autosomal dominant Alport syndromeUncertain significance
(Jul 14, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr2:228163401
GRCh38:
Chr2:227298685
COL4A3, MFF-DTA1252GAutosomal recessive Alport syndrome, Autosomal dominant Alport syndromeUncertain significance
(Jul 14, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr2:228158019
GRCh38:
Chr2:227293303
COL4A3, MFF-DTS1108IAutosomal recessive Alport syndrome, Autosomal dominant Alport syndromeUncertain significance
(Jul 14, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr2:228174032
GRCh38:
Chr2:227309316
COL4A3, MFF-DTM1585VAutosomal recessive Alport syndrome, Autosomal dominant Alport syndromeUncertain significance
(Jul 14, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr2:228172488
GRCh38:
Chr2:227307772
COL4A3, MFF-DTA1439TAutosomal dominant Alport syndrome, Autosomal recessive Alport syndromeUncertain significance
(Jul 14, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr2:228162415
GRCh38:
Chr2:227297699
MFF-DT, COL4A3Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome, not provided
Conflicting interpretations of pathogenicity
(Jul 14, 2021)
criteria provided, conflicting interpretations
81.
GRCh37:
Chr2:228174052
GRCh38:
Chr2:227309336
COL4A3, MFF-DTAutosomal dominant Alport syndrome, Benign familial hematuria, Autosomal recessive Alport syndrome,
not provided
Benign/Likely benign
(Aug 15, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr2:228159761
GRCh38:
Chr2:227295045
COL4A3, MFF-DTG1167EAutosomal dominant Alport syndromePathogenic
(Jul 15, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr2:228162507
GRCh38:
Chr2:227297791
COL4A3, MFF-DTG1228VInborn genetic diseases, not provided, Autosomal dominant Alport syndrome,
Benign familial hematuria, Autosomal recessive Alport syndrome
Likely pathogenic
(Aug 16, 2023)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr2:228142192
GRCh38:
Chr2:227277476
COL4A3, MFF-DTG683Enot provided, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome
Conflicting interpretations of pathogenicity
(Oct 10, 2021)
criteria provided, conflicting interpretations
85.
GRCh37:
Chr2:228118022
GRCh38:
Chr2:227253306
COL4A3, MFF-DTG219VAutosomal dominant Alport syndrome, Benign familial hematuria, Autosomal recessive Alport syndrome
Likely pathogenic
(Jul 29, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr2:228147195
GRCh38:
Chr2:227282479
COL4A3, MFF-DTG868EAutosomal dominant Alport syndromePathogenic
(Jul 7, 2021)
no assertion criteria provided
87.
GRCh37:
Chr2:228147076
GRCh38:
Chr2:227282360
COL4A3, MFF-DTAutosomal dominant Alport syndrome, Benign familial hematuria, Autosomal recessive Alport syndrome,
not provided
Likely benign
(Oct 20, 2022)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr2:228110729
GRCh38:
Chr2:227246013
COL4A3, MFF-DTnot provided, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome
Likely benign
(Oct 8, 2021)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr2:228163462
GRCh38:
Chr2:227298746
COL4A3, MFF-DTnot provided, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome
Likely benign
(Sep 14, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr2:228137781
GRCh38:
Chr2:227273065
MFF-DT, COL4A3not provided, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome
Likely benign
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr2:228159759
GRCh38:
Chr2:227295043
COL4A3, MFF-DTnot provided, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome
Likely benign
(Jan 1, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr2:228175587
GRCh38:
Chr2:227310871
COL4A3, MFF-DTnot provided, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome
Likely benign
(Jun 28, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr2:228142184
GRCh38:
Chr2:227277468
COL4A3, MFF-DTnot provided, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome
Likely benign
(Oct 6, 2021)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr2:228163402
GRCh38:
Chr2:227298686
COL4A3, MFF-DTnot provided, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome
Likely benign
(Oct 9, 2022)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr2:228172487
GRCh38:
Chr2:227307771
COL4A3, MFF-DTnot provided, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome
Likely benign
(Sep 23, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr2:228173730
GRCh38:
Chr2:227309014
COL4A3, MFF-DTAutosomal dominant Alport syndrome, Benign familial hematuria, Autosomal recessive Alport syndrome,
not provided
Likely benign
(Apr 30, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr2:228148581
GRCh38:
Chr2:227283865
COL4A3, MFF-DTnot provided, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome
Likely benign
(May 21, 2022)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr2:228137766
GRCh38:
Chr2:227273050
COL4A3, MFF-DTnot provided, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome
Likely benign
(Sep 14, 2022)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr2:228112308
GRCh38:
Chr2:227247592
COL4A3, MFF-DTnot provided, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome
Likely benign
(Sep 13, 2022)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr2:228155524
GRCh38:
Chr2:227290808
COL4A3, MFF-DTnot provided, Autosomal dominant Alport syndrome, Benign familial hematuria,
Autosomal recessive Alport syndrome
Likely benign
(Oct 4, 2022)
criteria provided, multiple submitters, no conflicts
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