| - GRCh37:
- Chr16:88815828-88815830
- GRCh38:
- Chr16:88749420-88749422
| PIEZO1 | L41del | Lymphatic malformation 6 | Likely pathogenic
(Jun 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88788667
- GRCh38:
- Chr16:88722259
| PIEZO1 | Y1152*, Y1638* | Lymphatic malformation 6 | Pathogenic
(Jun 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88789731
- GRCh38:
- Chr16:88723323
| PIEZO1 | Y1448fs | Lymphatic malformation 6 | Likely pathogenic
(Mar 8, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168269658
- GRCh38:
- Chr1:168300420
| TBX19 | | Lymphatic malformation 6 | Likely pathogenic
(Jul 22, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88792002
- GRCh38:
- Chr16:88725594
| PIEZO1 | | Lymphatic malformation 6 | Pathogenic
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88798896
- GRCh38:
- Chr16:88732488
| PIEZO1, LOC100289580 | Y460*, Y946* | Lymphatic malformation 6 | Pathogenic
(Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88782981-88782992
- GRCh38:
- Chr16:88716573-88716584
| PIEZO1 | | Lymphatic malformation 6 | Uncertain significance
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88799686
- GRCh38:
- Chr16:88733278
| PIEZO1, LOC100289580 | | Lymphatic malformation 6 | Uncertain significance
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88802732
- GRCh38:
- Chr16:88736324
| LOC100289580, PIEZO1 | Q461* | not provided, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6
| Pathogenic
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88802817
- GRCh38:
- Chr16:88736409
| LOC100289580, PIEZO1 | | Lymphatic malformation 6 | Likely pathogenic
(Jan 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88789667-88789672
- GRCh38:
- Chr16:88723259-88723264
| PIEZO1 | | not provided, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6
| Uncertain significance
(Apr 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88782101-88782102
- GRCh38:
- Chr16:88715693-88715694
| PIEZO1 | | Lymphatic malformation 6, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, not provided
| Conflicting interpretations of pathogenicity
(May 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:88798341
- GRCh38:
- Chr16:88731933
| LOC100289580, PIEZO1 | | Lymphatic malformation 6, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, not specified
| Benign
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88805183
- GRCh38:
- Chr16:88738775
| LOC100289580, PIEZO1 | | Lymphatic malformation 6, not provided, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
| Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88792933
- GRCh38:
- Chr16:88726525
| PIEZO1 | | not provided, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6
| Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88803195
- GRCh38:
- Chr16:88736787
| LOC100289580, PIEZO1 | | not provided, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6
| Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88801026
- GRCh38:
- Chr16:88734618
| LOC100289580, PIEZO1 | | Lymphatic malformation 6, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, not provided
| Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88786967
- GRCh38:
- Chr16:88720559
| PIEZO1 | | Lymphatic malformation 6, not provided, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
| Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88803925-88803926
- GRCh38:
- Chr16:88737517-88737518
| LOC100289580, PIEZO1 | | Lymphatic malformation 6, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, not provided
| Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88788960
- GRCh38:
- Chr16:88722552
| PIEZO1 | | not provided, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6
| Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88782320
- GRCh38:
- Chr16:88715912
| PIEZO1 | | Lymphatic malformation 6, not provided, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
| Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88808862
- GRCh38:
- Chr16:88742454
| PIEZO1 | | Lymphatic malformation 6, not provided, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
| Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88793090
- GRCh38:
- Chr16:88726682
| PIEZO1 | | not provided, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6
| Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88802815-88802875
- GRCh38:
- Chr16:88736407-88736467
| LOC100289580, PIEZO1 | | Lymphatic malformation 6, not provided | Benign/Likely benign
(Aug 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88788235
- GRCh38:
- Chr16:88721827
| PIEZO1 | T1732M | Lymphatic malformation 6, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, not provided
| Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88786322
- GRCh38:
- Chr16:88719914
| PIEZO1 | C2071R | Lymphatic malformation 6 | Uncertain significance
(Jan 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88788060
- GRCh38:
- Chr16:88721652
| PIEZO1 | Y1763* | Lymphatic malformation 6, not provided | Pathogenic/Likely pathogenic
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88787082
- GRCh38:
- Chr16:88720674
| PIEZO1 | R1915G | Lymphatic malformation 6 | Uncertain significance
(Jun 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88800082
- GRCh38:
- Chr16:88733674
| LOC100289580, PIEZO1 | R801C | Lymphatic malformation 6 | Uncertain significance
(Jun 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88851354
- GRCh38:
- Chr16:88784946
| PIEZO1 | G7R | Lymphatic malformation 6 | Uncertain significance
(Jun 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88793103
- GRCh38:
- Chr16:88726695
| PIEZO1 | | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6, not provided
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88804618
- GRCh38:
- Chr16:88738210
| LOC100289580, PIEZO1 | | not provided, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6
| Benign
(Nov 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88802540
- GRCh38:
- Chr16:88736132
| LOC100289580, PIEZO1 | | not provided, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6
| Benign
(Nov 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88800295
- GRCh38:
- Chr16:88733887
| PIEZO1, LOC100289580 | | not provided, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6
| Benign
(Nov 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88788731
- GRCh38:
- Chr16:88722323
| PIEZO1 | T1617M | Lymphatic malformation 6, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, not provided
| Uncertain significance
(Oct 4, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88790336-88790339
- GRCh38:
- Chr16:88723928-88723931
| PIEZO1 | S1425fs | Inborn genetic diseases, Lymphatic malformation 6, not provided
| Pathogenic
(Jul 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88798119
- GRCh38:
- Chr16:88731711
| LOC100289580, PIEZO1 | C1064F | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
| Likely pathogenic
(Oct 5, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr16:88794069
- GRCh38:
- Chr16:88727661
| PIEZO1 | D1066G | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
| Likely pathogenic
(Oct 5, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr16:88782854
- GRCh38:
- Chr16:88716446
| PIEZO1 | E2322* | Lymphatic malformation 6 | Pathogenic
(Jul 20, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:88787052
- GRCh38:
- Chr16:88720644
| PIEZO1 | R1925W | not provided | Conflicting interpretations of pathogenicity
(Apr 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:88789685-88789699
- GRCh38:
- Chr16:88723277-88723291
| PIEZO1 | V1458fs | Lymphatic malformation 6 | Likely pathogenic
(Jun 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88799858
- GRCh38:
- Chr16:88733450
| LOC100289580, PIEZO1 | S831L | Lymphatic malformation 6, not provided | Conflicting interpretations of pathogenicity
(Jul 7, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:88800169
- GRCh38:
- Chr16:88733761
| LOC100289580, PIEZO1 | | not provided, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6
| Benign/Likely benign
(Aug 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88793539
- GRCh38:
- Chr16:88727131
| PIEZO1 | | not provided, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6
| Benign/Likely benign
(Oct 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88786239
- GRCh38:
- Chr16:88719831
| PIEZO1 | | not provided, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6
| Benign/Likely benign
(Oct 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88799679
- GRCh38:
- Chr16:88733271
| PIEZO1, LOC100289580 | | Lymphatic malformation 6, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, not provided
| Benign/Likely benign
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88788709
- GRCh38:
- Chr16:88722301
| PIEZO1 | | Lymphatic malformation 6, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, not provided
| Benign/Likely benign
(Jul 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88788623
- GRCh38:
- Chr16:88722215
| PIEZO1 | | Lymphatic malformation 6, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, not provided
| Benign/Likely benign
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88782084
- GRCh38:
- Chr16:88715676
| PIEZO1 | | Lymphatic malformation 6, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, not provided
| Benign/Likely benign
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88782267
- GRCh38:
- Chr16:88715859
| PIEZO1 | | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6, not provided
| Benign/Likely benign
(Sep 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88803983
- GRCh38:
- Chr16:88737575
| PIEZO1, LOC100289580 | | Lymphatic malformation 6, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, not provided
| Benign/Likely benign
(Sep 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88788438
- GRCh38:
- Chr16:88722030
| PIEZO1 | | Lymphatic malformation 6, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, not provided
| Likely benign
(Nov 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88815820
- GRCh38:
- Chr16:88749412
| PIEZO1 | | Lymphatic malformation 6, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, not provided
| Benign/Likely benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88798310
- GRCh38:
- Chr16:88731902
| LOC100289580, PIEZO1 | F1000L | not provided, Lymphatic malformation 6 | Uncertain significance
(Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88782026
- GRCh38:
- Chr16:88715618
| PIEZO1 | R2518P | not provided, Lymphatic malformation 6 | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88798181
- GRCh38:
- Chr16:88731773
| LOC100289580, PIEZO1 | | Lymphatic malformation 6, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, not provided
| Benign/Likely benign
(Mar 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88787690
- GRCh38:
- Chr16:88721282
| PIEZO1 | T1851M | not provided, Lymphatic malformation 6, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
| Benign/Likely benign
(Oct 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88798869
- GRCh38:
- Chr16:88732461
| PIEZO1, LOC100289580 | | not provided, Lymphatic malformation 6, Lymphatic malformation 6,
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | Benign/Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88786325
- GRCh38:
- Chr16:88719917
| PIEZO1 | K2070Q | Lymphatic malformation 6 | Likely pathogenic
(Aug 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88794060
- GRCh38:
- Chr16:88727652
| PIEZO1 | W1069* | Lymphatic malformation 6 | Likely pathogenic
(Aug 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88798203
- GRCh38:
- Chr16:88731795
| PIEZO1, LOC100289580 | R1036H | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Inborn genetic diseases, Lymphatic malformation 6,
not provided | Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88803079
- GRCh38:
- Chr16:88736671
| LOC100289580, PIEZO1 | Q422* | Lymphatic malformation 6, not provided | Pathogenic
(Sep 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88793155
- GRCh38:
- Chr16:88726747
| PIEZO1 | V1223I | Lymphatic malformation 6, not provided | Likely benign
(Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88805055
- GRCh38:
- Chr16:88738647
| LOC100289580, PIEZO1 | | Lymphatic malformation 6, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, not provided
| Benign
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88803982
- GRCh38:
- Chr16:88737574
| PIEZO1, LOC100289580 | V394L | Lymphatic malformation 6, not provided, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
| Benign
(Nov 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88792047
- GRCh38:
- Chr16:88725639
| PIEZO1 | | not provided, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6
| Benign
(Nov 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88787704
- GRCh38:
- Chr16:88721296
| PIEZO1 | | Lymphatic malformation 6, not provided, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
| Benign
(Nov 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88783521
- GRCh38:
- Chr16:88717113
| PIEZO1 | | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6, not provided
| Benign
(Nov 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88851310
- GRCh38:
- Chr16:88784902
| PIEZO1 | | Lymphatic malformation 6, not provided, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
| Benign
(Nov 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88808743
- GRCh38:
- Chr16:88742335
| PIEZO1 | I83T | not provided, Lymphatic malformation 6, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
| Benign
(Nov 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88807878
- GRCh38:
- Chr16:88741470
| PIEZO1 | | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6, not provided
| Benign
(Nov 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88804856
- GRCh38:
- Chr16:88738448
| PIEZO1, LOC100289580 | | not provided, Lymphatic malformation 6, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
| Benign
(Nov 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88804734
- GRCh38:
- Chr16:88738326
| LOC100289580, PIEZO1 | V250A | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6, not provided
| Benign
(Nov 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88792097
- GRCh38:
- Chr16:88725689
| PIEZO1 | | not provided, Lymphatic malformation 6, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
| Benign
(Nov 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88783449
- GRCh38:
- Chr16:88717041
| PIEZO1 | | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6, not provided
| Benign
(Nov 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88782676
- GRCh38:
- Chr16:88716268
| PIEZO1 | | Lymphatic malformation 6, not provided, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
| Benign
(Nov 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88803124
- GRCh38:
- Chr16:88736716
| LOC100289580, PIEZO1 | R407G | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6, not provided
| Benign
(Nov 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88791458
- GRCh38:
- Chr16:88725050
| PIEZO1 | P1398L | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6, not provided
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88787673
- GRCh38:
- Chr16:88721265
| PIEZO1 | P1857S | Lymphatic malformation 6, not provided, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88787608-88787610
- GRCh38:
- Chr16:88721200-88721202
| PIEZO1 | K1878del | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6, not provided
| Benign
(Nov 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88783100
- GRCh38:
- Chr16:88716692
| PIEZO1 | I2265V | Lymphatic malformation 6, not provided, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
| Benign
(Nov 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88788477
- GRCh38:
- Chr16:88722069
| PIEZO1 | | not specified, not provided, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema,
Lymphatic malformation 6 | Benign
(Nov 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88800139
- GRCh38:
- Chr16:88733731
| PIEZO1, LOC100289580 | G782S | Lymphatic malformation 6, not provided, not specified
| Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:88782368
- GRCh38:
- Chr16:88715960
| PIEZO1 | P2430L | Lymphatic malformation 6 | Pathogenic
(Jan 26, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr16:88801542
- GRCh38:
- Chr16:88735134
| LOC100289580, PIEZO1 | | Lymphatic malformation 6 | Pathogenic
(Jan 26, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr16:88783580
- GRCh38:
- Chr16:88717172
| PIEZO1 | V2171F | Lymphatic malformation 6 | Pathogenic
(Jan 26, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr16:88792954
- GRCh38:
- Chr16:88726546
| PIEZO1 | | Lymphatic malformation 6 | Pathogenic
(Jan 26, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr16:88783285
- GRCh38:
- Chr16:88716877
| PIEZO1 | Q2228* | Lymphatic malformation 6 | Pathogenic
(Jan 26, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr16:88788693
- GRCh38:
- Chr16:88722285
| PIEZO1 | E1630* | Lymphatic malformation 6 | Pathogenic
(Jan 26, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr16:88800380
- GRCh38:
- Chr16:88733972
| LOC100289580, PIEZO1 | E755* | Lymphatic malformation 6 | Pathogenic
(Jan 26, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr16:88800060
- Chr16:88800139
- Chr16:88801252
- GRCh38:
- Chr16:88733652
- Chr16:88733731
- Chr16:88734844
| PIEZO1, LOC100289580, PIEZO1, LOC100289580, PIEZO1, LOC100289580 | R808Q, G782S | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | Pathogenic
(May 9, 2013) | no assertion criteria provided |