| - GRCh37:
- Chr2:110881459
- GRCh38:
- Chr2:110123882
| NPHP1 | A585V, A647V, A648V, A703V, A704V | Joubert syndrome with renal defect | Uncertain significance
(Jun 14, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:110962457
- GRCh38:
- Chr2:110204880
| NPHP1 | | Nephronophthisis 1, Joubert syndrome with renal defect, Senior-Loken syndrome 1,
Nephronophthisis | Likely benign
(Aug 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110904424
- GRCh38:
- Chr2:110146847
| NPHP1 | | Nephronophthisis, Joubert syndrome with renal defect, Nephronophthisis 1,
Senior-Loken syndrome 1 | Likely benign
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110920617
- GRCh38:
- Chr2:110163040
| NPHP1 | | Nephronophthisis, Nephronophthisis 1, Senior-Loken syndrome 1,
Joubert syndrome with renal defect | Likely benign
(May 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110920723
- GRCh38:
- Chr2:110163146
| NPHP1 | | Senior-Loken syndrome 1, Joubert syndrome with renal defect, Nephronophthisis 1,
Nephronophthisis | Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110922129
- GRCh38:
- Chr2:110164552
| NPHP1 | R303S | Nephronophthisis, Inborn genetic diseases, Senior-Loken syndrome 1,
Nephronophthisis 1, Joubert syndrome with renal defect | Uncertain significance
(Aug 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110920667
- GRCh38:
- Chr2:110163090
| NPHP1 | A210T, A328T, A272T, A329T, A273T | Inborn genetic diseases, Nephronophthisis, Nephronophthisis 1,
Senior-Loken syndrome 1, Joubert syndrome with renal defect | Uncertain significance
(Apr 19, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110902097
- GRCh38:
- Chr2:110144520
| NPHP1 | E523K, E524K, E405K, E467K, E468K | Nephronophthisis 1, Senior-Loken syndrome 1, Joubert syndrome with renal defect,
Nephronophthisis | Uncertain significance
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110922309
- GRCh38:
- Chr2:110164732
| NPHP1 | | Joubert syndrome with renal defect, Nephronophthisis 1, Senior-Loken syndrome 1,
Nephronophthisis | Likely pathogenic
(Mar 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110927501
- GRCh38:
- Chr2:110169924
| NPHP1 | D73G, D135G | Nephronophthisis, Joubert syndrome with renal defect, Nephronophthisis 1,
Senior-Loken syndrome 1 | Uncertain significance
(Jul 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110958997
- GRCh38:
- Chr2:110201420
| NPHP1 | | Senior-Loken syndrome 1, Nephronophthisis 1, Joubert syndrome with renal defect,
Nephronophthisis | Likely pathogenic
(Jun 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110889281
- GRCh38:
- Chr2:110131704
| NPHP1 | | Nephronophthisis, Joubert syndrome with renal defect, Senior-Loken syndrome 1,
Nephronophthisis 1 | Conflicting interpretations of pathogenicity
(Jun 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:110881442
- GRCh38:
- Chr2:110123865
| NPHP1 | G591R, G710R, G709R, G653R, G654R | Nephronophthisis, Joubert syndrome with renal defect, Nephronophthisis 1,
Senior-Loken syndrome 1 | Uncertain significance
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110922679
- GRCh38:
- Chr2:110165102
| NPHP1 | E164D, E226D | Nephronophthisis, Joubert syndrome with renal defect, Senior-Loken syndrome 1,
Nephronophthisis 1 | Uncertain significance
(Jul 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110926054
- GRCh38:
- Chr2:110168477
| NPHP1 | G138D, G200D | Joubert syndrome with renal defect, Senior-Loken syndrome 1, Nephronophthisis 1,
Inborn genetic diseases, Nephronophthisis | Conflicting interpretations of pathogenicity
(Nov 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:110889309
- GRCh38:
- Chr2:110131732
| NPHP1 | R467Q, R529Q, R530Q, R585Q, R586Q | not provided, Nephronophthisis 1, Joubert syndrome with renal defect,
Senior-Loken syndrome 1, Nephronophthisis | Uncertain significance
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110880893-110962659
| NPHP1 | | Joubert syndrome with renal defect, Senior-Loken syndrome 1, Nephronophthisis 1
| Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:110880925-110962590
| NPHP1 | | Joubert syndrome with renal defect, Senior-Loken syndrome 1, Nephronophthisis 1
| Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:110926095
- GRCh38:
- Chr2:110168518
| NPHP1 | | not provided, Nephronophthisis, Senior-Loken syndrome 1,
Joubert syndrome with renal defect, Nephronophthisis 1 | Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110883253
- GRCh38:
- Chr2:110125676
| NPHP1 | | Nephronophthisis, Senior-Loken syndrome 1, Joubert syndrome with renal defect,
Nephronophthisis 1 | Likely benign
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110927422
- GRCh38:
- Chr2:110169845
| NPHP1 | D100fs, D162fs | Inborn genetic diseases, Joubert syndrome with renal defect, Nephronophthisis 1,
Senior-Loken syndrome 1, Nephronophthisis | Pathogenic/Likely pathogenic
(Jun 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110881395
- GRCh38:
- Chr2:110123818
| NPHP1 | | Nephronophthisis, Senior-Loken syndrome 1, Nephronophthisis 1,
Joubert syndrome with renal defect | Conflicting interpretations of pathogenicity
(Aug 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:110901186
- GRCh38:
- Chr2:110143609
| NPHP1 | M425V, M487V, M488V, M543V, M544V | Nephronophthisis, Nephronophthisis 1, Joubert syndrome with renal defect,
Senior-Loken syndrome 1 | Uncertain significance
(Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110886830
- GRCh38:
- Chr2:110129253
| NPHP1 | I487T, I549T, I550T, I605T, I606T | Inborn genetic diseases, Nephronophthisis, Nephronophthisis 1,
Senior-Loken syndrome 1, Joubert syndrome with renal defect | Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110917778
- GRCh38:
- Chr2:110160201
| NPHP1 | M337L, M274L, M336L, M392L, M393L | Nephronophthisis, Nephronophthisis 1, Joubert syndrome with renal defect,
Senior-Loken syndrome 1 | Uncertain significance
(Apr 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110886771
- GRCh38:
- Chr2:110129194
| NPHP1 | A570T, A625T, A626T, A507T, A569T | Joubert syndrome with renal defect, Nephronophthisis 1, Senior-Loken syndrome 1,
Joubert syndrome with renal defect | Uncertain significance
(Apr 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110881469
- GRCh38:
- Chr2:110123892
| NPHP1 | A644T, A582T, A700T, A701T, A645T | Senior-Loken syndrome 1, Joubert syndrome with renal defect, Nephronophthisis 1,
Nephronophthisis, Joubert syndrome with renal defect | Uncertain significance
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110889310
- GRCh38:
- Chr2:110131733
| NPHP1 | R530*, R529*, R585*, R586*, R467* | Senior-Loken syndrome 1, Joubert syndrome with renal defect, Nephronophthisis 1,
Nephronophthisis, Joubert syndrome with renal defect | Pathogenic
(Mar 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110927375-110927378
- GRCh38:
- Chr2:110169798-110169801
| NPHP1 | | Nephronophthisis, Joubert syndrome with renal defect, Nephronophthisis 1,
Senior-Loken syndrome 1 | Uncertain significance
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110905510
- GRCh38:
- Chr2:110147933
| NPHP1 | I355V, I417V, I418V, I473V, I474V | Nephronophthisis, Senior-Loken syndrome 1, Nephronophthisis 1,
Joubert syndrome with renal defect | Uncertain significance
(Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110936087
- GRCh38:
- Chr2:110178510
| NPHP1 | R81K | Nephronophthisis, Joubert syndrome with renal defect, Nephronophthisis 1,
Senior-Loken syndrome 1 | Uncertain significance
(Feb 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110936106
- GRCh38:
- Chr2:110178529
| NPHP1 | V75L | Nephronophthisis, Joubert syndrome with renal defect | Uncertain significance
(Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110827496-110962791
| MALL, NPHP1 | | Joubert syndrome with renal defect | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr2:110901125
- GRCh38:
- Chr2:110143548
| NPHP1 | V563G, V564G, V445G, V507G, V508G | Joubert syndrome with renal defect, Senior-Loken syndrome 1, Nephronophthisis 1,
Nephronophthisis, not provided | Uncertain significance
(Apr 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110881384
- GRCh38:
- Chr2:110123807
| NPHP1 | R673K, R728K, R610K, R672K, R729K | Senior-Loken syndrome 1, Joubert syndrome with renal defect, Nephronophthisis 1,
Nephronophthisis, not provided | Uncertain significance
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110926049
- GRCh38:
- Chr2:110168472
| NPHP1 | V202L, V140L | Nephronophthisis, Inborn genetic diseases, Joubert syndrome with renal defect,
Senior-Loken syndrome 1, Nephronophthisis 1 | Uncertain significance
(Feb 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110881520
- GRCh38:
- Chr2:110123943
| NPHP1 | R565W, R627W, R684W, R628W, R683W | Joubert syndrome with renal defect, Nephronophthisis 1, Senior-Loken syndrome 1,
Nephronophthisis | Uncertain significance
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110881507
- GRCh38:
- Chr2:110123930
| NPHP1 | I632T, I687T, I569T, I631T, I688T | Joubert syndrome with renal defect, Nephronophthisis 1, Senior-Loken syndrome 1,
Nephronophthisis | Uncertain significance
(Feb 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110922096
- GRCh38:
- Chr2:110164519
| NPHP1 | | Joubert syndrome with renal defect, Senior-Loken syndrome 1, Nephronophthisis 1,
Joubert syndrome and related disorders, Nephronophthisis | Likely pathogenic
(Mar 31, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110936089
- GRCh38:
- Chr2:110178512
| NPHP1 | | Nephronophthisis, Senior-Loken syndrome 1, Joubert syndrome with renal defect,
Nephronophthisis 1 | Conflicting interpretations of pathogenicity
(Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:110927553
- GRCh38:
- Chr2:110169976
| NPHP1 | E118K, E56K | Nephronophthisis, Inborn genetic diseases, Senior-Loken syndrome 1,
Joubert syndrome with renal defect, Nephronophthisis 1 | Uncertain significance
(Nov 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110922117
- GRCh38:
- Chr2:110164540
| NPHP1 | V307F | Joubert syndrome with renal defect, Senior-Loken syndrome 1, Nephronophthisis 1
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:110881174
- GRCh38:
- Chr2:110123597
| NPHP1 | | Joubert syndrome with renal defect, Senior-Loken syndrome 1, Nephronophthisis 1
| Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:110922087
- GRCh38:
- Chr2:110164510
| NPHP1 | | Nephronophthisis, Joubert syndrome with renal defect, Senior-Loken syndrome 1,
Nephronophthisis 1 | Conflicting interpretations of pathogenicity
(Sep 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:110889364
- GRCh38:
- Chr2:110131787
| NPHP1 | | Joubert syndrome with renal defect, Senior-Loken syndrome 1, Nephronophthisis 1
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:110886786
- GRCh38:
- Chr2:110129209
| NPHP1 | P564T, P620T, P621T, P502T, P565T | Nephronophthisis, Joubert syndrome with renal defect, Senior-Loken syndrome 1,
Nephronophthisis 1 | Uncertain significance
(Jul 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110881169
- GRCh38:
- Chr2:110123592
| NPHP1 | | Joubert syndrome with renal defect, Senior-Loken syndrome 1, Nephronophthisis 1
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:110881130
- GRCh38:
- Chr2:110123553
| NPHP1 | | Joubert syndrome with renal defect, Senior-Loken syndrome 1, Nephronophthisis 1
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:110962599
- GRCh38:
- Chr2:110205022
| NPHP1 | | Senior-Loken syndrome 1, Joubert syndrome with renal defect, Nephronophthisis 1
| Uncertain significance
(Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:110962562
- GRCh38:
- Chr2:110204985
| NPHP1 | | not provided, Joubert syndrome with renal defect, Nephronophthisis 1,
Senior-Loken syndrome 1 | Likely benign
(Apr 19, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110962516
- GRCh38:
- Chr2:110204939
| NPHP1 | | Joubert syndrome with renal defect, Senior-Loken syndrome 1, Nephronophthisis 1
| Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:110886748
- GRCh38:
- Chr2:110129171
| NPHP1 | | Nephronophthisis, Joubert syndrome with renal defect, Senior-Loken syndrome 1,
Nephronophthisis 1 | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:110883263
- GRCh38:
- Chr2:110125686
| NPHP1 | | Joubert syndrome with renal defect, Senior-Loken syndrome 1, Nephronophthisis 1
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:110880908
- GRCh38:
- Chr2:110123331
| NPHP1 | | Joubert syndrome with renal defect, Nephronophthisis 1, Senior-Loken syndrome 1
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:110959004
- GRCh38:
- Chr2:110201427
| NPHP1 | Y46C | Nephronophthisis, Joubert syndrome with renal defect, Nephronophthisis 1,
Senior-Loken syndrome 1 | Uncertain significance
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110881598
- GRCh38:
- Chr2:110124021
| NPHP1 | H601D, H539D, H602D, H657D, H658D | Joubert syndrome with renal defect, Nephronophthisis 1, Senior-Loken syndrome 1
| Uncertain significance
(Mar 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:110962502
- GRCh38:
- Chr2:110204925
| NPHP1 | R15L | Nephronophthisis, Joubert syndrome with renal defect, Senior-Loken syndrome 1,
Nephronophthisis 1 | Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110881516
- GRCh38:
- Chr2:110123939
| NPHP1 | W629*, W628*, W566*, W684*, W685* | Nephronophthisis, Joubert syndrome with renal defect, Senior-Loken syndrome 1,
Nephronophthisis 1 | Pathogenic/Likely pathogenic
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110927537
- GRCh38:
- Chr2:110169960
| NPHP1 | S123N, S61N | Joubert syndrome with renal defect, Nephronophthisis 1, Senior-Loken syndrome 1,
Nephronophthisis | Uncertain significance
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110922714
- GRCh38:
- Chr2:110165137
| NPHP1 | E153*, E215* | Senior-Loken syndrome 1, Nephronophthisis 1, Joubert syndrome with renal defect,
Nephronophthisis | Pathogenic/Likely pathogenic
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110922187
- GRCh38:
- Chr2:110164610
| NPHP1 | | Nephronophthisis, Senior-Loken syndrome 1, Joubert syndrome with renal defect,
Nephronophthisis 1 | Likely benign
(Aug 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110889372
- GRCh38:
- Chr2:110131795
| NPHP1 | | Senior-Loken syndrome 1, Joubert syndrome with renal defect, Nephronophthisis 1,
Nephronophthisis | Likely benign
(May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110902155
- GRCh38:
- Chr2:110144578
| NPHP1 | | Nephronophthisis, Nephronophthisis 1, Senior-Loken syndrome 1,
Joubert syndrome with renal defect | Likely benign
(Apr 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110919262
- GRCh38:
- Chr2:110161685
| NPHP1 | R228Q, R346Q, R291Q, R347Q, R290Q | Joubert syndrome with renal defect, Nephronophthisis 1, Senior-Loken syndrome 1,
Nephronophthisis | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110926098
- GRCh38:
- Chr2:110168521
| NPHP1 | K185fs, K123fs | Joubert syndrome with renal defect, Nephronophthisis | Pathogenic
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110922262
- GRCh38:
- Chr2:110164685
| NPHP1 | | Joubert syndrome with renal defect, Nephronophthisis 1, Senior-Loken syndrome 1,
Nephronophthisis, not provided | Conflicting interpretations of pathogenicity
(Aug 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:110922645
- GRCh38:
- Chr2:110165068
| NPHP1 | A238S, A176S | Joubert syndrome with renal defect, Nephronophthisis 1, Senior-Loken syndrome 1,
not provided | Uncertain significance
(Jan 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110889357
- GRCh38:
- Chr2:110131780
| NPHP1 | E570G, E451G, E569G, E514G, E513G | Nephronophthisis, not provided, Joubert syndrome with renal defect,
Nephronophthisis 1, Senior-Loken syndrome 1 | Uncertain significance
(Mar 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110901200
- GRCh38:
- Chr2:110143623
| NPHP1 | Y539C, Y538C, Y420C, Y483C, Y482C | not provided, Joubert syndrome with renal defect, Senior-Loken syndrome 1,
Nephronophthisis 1, Nephronophthisis | Uncertain significance
(Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110927490
- GRCh38:
- Chr2:110169913
| NPHP1 | E139*, E77* | Joubert syndrome with renal defect, Senior-Loken syndrome 1, Nephronophthisis 1,
not provided | Pathogenic/Likely pathogenic
(Apr 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110886839
- GRCh38:
- Chr2:110129262
| NPHP1 | | Nephronophthisis, Joubert syndrome with renal defect, Senior-Loken syndrome 1,
Nephronophthisis 1, not provided | Uncertain significance
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110917771
- GRCh38:
- Chr2:110160194
| NPHP1 | P395R, P276R, P339R, P394R, P338R | Nephronophthisis, Joubert syndrome with renal defect, Senior-Loken syndrome 1,
Nephronophthisis 1, not provided | Uncertain significance
(Jul 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110927445
- GRCh38:
- Chr2:110169868
| NPHP1 | G154S, G92S | Joubert syndrome with renal defect, Nephronophthisis 1, Senior-Loken syndrome 1,
Nephronophthisis, not provided, Nephronophthisis 1,
Senior-Loken syndrome 1, Joubert syndrome with renal defect | Uncertain significance
(Jul 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110917729
- GRCh38:
- Chr2:110160152
| NPHP1 | R409H, R290H, R353H, R408H, R352H | not provided, Nephronophthisis, Senior-Loken syndrome 1,
Joubert syndrome with renal defect, Nephronophthisis 1 | Uncertain significance
(Jul 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110919263
- GRCh38:
- Chr2:110161686
| NPHP1 | R347*, R228*, R346*, R291*, R290* | not provided, Nephronophthisis, Joubert syndrome with renal defect,
Nephronophthisis 1, Senior-Loken syndrome 1 | Pathogenic
(Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110883209
- GRCh38:
- Chr2:110125632
| NPHP1 | | Nephronophthisis 1, Senior-Loken syndrome 1, Joubert syndrome with renal defect,
Nephronophthisis | Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110901214
- GRCh38:
- Chr2:110143637
| NPHP1 | | Nephronophthisis 1, Joubert syndrome with renal defect, Senior-Loken syndrome 1,
Nephronophthisis | Likely benign
(Jul 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110920648
- GRCh38:
- Chr2:110163071
| NPHP1 | T335M, T279M, T216M, T334M, T278M | not specified, not provided, Nephronophthisis,
Joubert syndrome with renal defect, Nephronophthisis 1, Senior-Loken syndrome 1
| Benign/Likely benign
(Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110881565
- GRCh38:
- Chr2:110123988
| NPHP1 | R669C, R613C, R668C, R550C, R612C | Nephronophthisis 1, Senior-Loken syndrome 1, Joubert syndrome with renal defect,
Nephronophthisis, not provided | Uncertain significance
(Jan 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110920679
- GRCh38:
- Chr2:110163102
| NPHP1 | G325R, G269R, G206R, G324R, G268R | Nephronophthisis 1, Senior-Loken syndrome 1, Joubert syndrome with renal defect,
Nephronophthisis, not provided | Uncertain significance
(Mar 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110962485
- GRCh38:
- Chr2:110204908
| NPHP1 | K21E | not provided, Nephronophthisis, Nephronophthisis 1,
Senior-Loken syndrome 1, Joubert syndrome with renal defect | Uncertain significance
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110920717
- GRCh38:
- Chr2:110163140
| NPHP1 | | Nephronophthisis 1, Senior-Loken syndrome 1, Joubert syndrome with renal defect,
not provided | Uncertain significance
(Jan 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110927412
- GRCh38:
- Chr2:110169835
| NPHP1 | A165T, A103T | Senior-Loken syndrome 1, Joubert syndrome with renal defect, Nephronophthisis 1,
not provided, Nephronophthisis | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110937203
- GRCh38:
- Chr2:110179626
| NPHP1 | K68Q | Nephronophthisis, Senior-Loken syndrome 1, Joubert syndrome with renal defect,
Nephronophthisis 1, not provided | Uncertain significance
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110927467
- GRCh38:
- Chr2:110169890
| NPHP1 | | Nephronophthisis, Joubert syndrome with renal defect, Nephronophthisis 1,
Senior-Loken syndrome 1 | Benign/Likely benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110901124
- GRCh38:
- Chr2:110143547
| NPHP1 | | not specified, Nephronophthisis, Joubert syndrome with renal defect,
Nephronophthisis 1, Senior-Loken syndrome 1 | Likely benign
(Sep 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110927449
- GRCh38:
- Chr2:110169872
| NPHP1 | | Nephronophthisis 1, Senior-Loken syndrome 1, Joubert syndrome with renal defect,
Nephronophthisis | Conflicting interpretations of pathogenicity
(Apr 24, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:110926060
- GRCh38:
- Chr2:110168483
| NPHP1 | N198S, N136S | Joubert syndrome with renal defect, Nephronophthisis 1, Senior-Loken syndrome 1
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:110922688
- GRCh38:
- Chr2:110165111
| NPHP1 | | Joubert syndrome with renal defect, Senior-Loken syndrome 1, Nephronophthisis 1
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:110922176
- GRCh38:
- Chr2:110164599
| NPHP1 | N287S | not provided, Joubert syndrome with renal defect, Joubert syndrome with renal defect,
Nephronophthisis 1, Senior-Loken syndrome 1, Senior-Loken syndrome 1,
Nephronophthisis, Nephronophthisis 1 | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110920683
- GRCh38:
- Chr2:110163106
| NPHP1 | | not provided, Joubert syndrome with renal defect, Senior-Loken syndrome 1,
Nephronophthisis, Nephronophthisis 1 | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:110920664
- GRCh38:
- Chr2:110163087
| NPHP1 | G330R, G211R, G329R, G274R, G273R | Joubert syndrome with renal defect, Senior-Loken syndrome 1, Nephronophthisis 1
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:110905597
- GRCh38:
- Chr2:110148020
| NPHP1 | R445C, R326C, R389C, R444C, R388C | not provided, Joubert syndrome with renal defect, Joubert syndrome with renal defect,
Nephronophthisis 1, Senior-Loken syndrome 1, Senior-Loken syndrome 1,
Nephronophthisis, Nephronophthisis 1 | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110904403
- GRCh38:
- Chr2:110146826
| NPHP1 | E483Q, E427Q, E364Q, E482Q, E426Q | Joubert syndrome with renal defect, Senior-Loken syndrome 1, Nephronophthisis 1
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:110901179
- GRCh38:
- Chr2:110143602
| NPHP1 | R546K, R545K, R427K, R490K, R489K | not provided, not specified, Nephronophthisis,
Joubert syndrome with renal defect, Senior-Loken syndrome 1, Nephronophthisis 1
| Conflicting interpretations of pathogenicity
(Oct 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:110901126
- GRCh38:
- Chr2:110143549
| NPHP1 | V564L, V445L, V563L, V508L, V507L | not provided, Nephronophthisis, Nephronophthisis 1,
Senior-Loken syndrome 1, Joubert syndrome with renal defect, Joubert syndrome with renal defect,
Nephronophthisis 1, Senior-Loken syndrome 1, not specified
| Uncertain significance
(Mar 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110883254
- GRCh38:
- Chr2:110125677
| NPHP1 | S630L, S511L, S629L, S574L, S573L | Nephronophthisis, Joubert syndrome with renal defect, Senior-Loken syndrome 1,
Nephronophthisis 1 | Uncertain significance
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110881470
- GRCh38:
- Chr2:110123893
| NPHP1 | | not provided, Joubert syndrome with renal defect, Nephronophthisis,
Senior-Loken syndrome 1, Nephronophthisis 1 | Uncertain significance
(Aug 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:110881118
- GRCh38:
- Chr2:110123541
| NPHP1 | | Joubert syndrome with renal defect, Senior-Loken syndrome 1, Nephronophthisis 1
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:110881046
- GRCh38:
- Chr2:110123469
| NPHP1 | | Joubert syndrome with renal defect, Senior-Loken syndrome 1, Nephronophthisis 1
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |