| - GRCh37:
- Chr4:55561847
- GRCh38:
- Chr4:54695681
| KIT | N80fs | Partial albinism | Pathogenic
(Mar 8, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:53688710-56491447
| KIT, LNX1, NMU, PDCL2, GSX2, KDR, PDGFRA, RASL11B, SCFD2, CHIC2, CLOCK, FIP1L1, SRD5A3, TMEM165 | | Partial albinism | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr4:55564702
- GRCh38:
- Chr4:54698536
| KIT | S197L | Cutaneous mastocytosis, Gastrointestinal stroma tumor, Partial albinism
| Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr4:55598045-55598054
- GRCh38:
- Chr4:54731879-54731888
| KIT | I743fs, I744fs, I745fs, I747fs, I748fs, I749fs | Partial albinism | Likely pathogenic
(May 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55599289-55599296
- GRCh38:
- Chr4:54733123-54733130
| KIT | T801fs, T802fs, T803fs, T805fs, T806fs, T807fs | Partial albinism | Pathogenic
(Oct 1, 2021) | criteria provided, single submitter |
| - GRCh38:
- Chr4:51891814-76009719
| CEP135, CHIC2, GRSF1, LOC110120742, LOC110120745, LOC110120783, LOC123477746, LOC123477747, LOC123477748, LOC126807073, LOC126807074, LOC126807075, PPBP, PPEF2, TMPRSS11A, TMPRSS11B, UGT2B11, TMPRSS11D, TMPRSS11E, TMPRSS11F, UBA6, UBA6-DT, UGT2A1, UGT2A2, UGT2B15, UGT2B17, SMR3B, SNORA26, SPATA18, RUFY3, SCFD2, SDAD1, UGT2B28, UGT2B4, UGT2B7, UGT2A3, UGT2B10, PRR27, RASL11B, SMR3A, LOC550113, LRRC66, MIR1269A, MIR4449, MIR548AG1, MUC7, NAAA, NMU, NOA1, LOC126807079, LOC126807080, LOC126807081, RASSF6, RCHY1, REST, SDAD1-AS1, SGCB, SLC4A4, LOC123477756, LOC123477757, LOC123477758, LOC123477766, LOC126807053, LOC126807054, LOC123477754, LOC123477755, LOC123477759, LOC123477760, LOC123477761, LOC123477762, LOC123477763, LOC123477764, LOC123477765, LOC126807055, LOC126807056, LOC126807057, LOC123477752, LOC123477753, LOC126807076, LOC126807077, LOC126807078, LOC126807082, LOC126807083, LOC110121111, LOC110121177, LOC110121183, LOC114004386, LOC114803476, LOC114827842, LOC111589210, LOC111828520, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC116158494, LOC111832670, LOC111832671, LOC112978669, LOC112978670, LOC112978671, MOB1B, MTHFD2L, LOC123477749, LOC123477750, LOC123477751, GSX2, HOPX, HTN1, HTN3, IGFBP7, IGFBP7-AS1, INKILN, JCHAIN, KDR, DCK, DCUN1D4, CRACD, CSN1S1, KIT, LINC01618, LINC02232, LINC02260, LINC02271, LINC02283, LINC02380, LINC02429, LINC02480, CLOCK, COX18, CXCL9, DANCR, CSN2, CSN3, ADGRL3-AS1, AFM, CXCL1, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, AASDH, ADAMTS3, ADGRL3, AFP, ALB, AMBN, AMTN, ANKRD17, ANKRD17-DT, AREG, ARL9, BTC, CABS1, CDKL2, CENPC, ENAM, EPGN, EPHA5, EPHA5-AS1, EREG, ERVMER34-1, EXOC1, EXOC1L, FDCSP, FIP1L1, G3BP2, GC, GNRHR, LINC02483, LINC02494, LINC02496, LINC02499, LINC02562, LINC02619, LNX1, LNX1-AS1, LNX1-AS2, LOC100506444, LOC101927237, LOC105377253, LOC105377267, LOC105377276, LOC105377672, LOC116158495, LOC116158496, LOC121053179, LOC121053180, LOC121053181, LOC121053182, LOC121053183, LOC121053184, LOC121053185, LOC121053186, LOC121725171, LOC121725172, LOC123477742, LOC123477743, LOC123477744, LOC123477745, LOC126807058, LOC126807059, LOC126807060, LOC126807061, LOC126807062, LOC126807063, LOC126807064, LOC126807065, LOC126807066, LOC126807067, LOC126807068, LOC126807069, LOC126807070, LOC126807071, LOC126807072, NPFFR2, ODAM, ODAPH, OPRPN, PAICS, PARM1, PARM1-AS1, PDCL2, PDGFRA, PF4, PF4V1, POLR2B, PPAT, SPINK2, SPMAP2L, SRD5A3, SRD5A3-AS1, SRP72, STAP1, STATH, SULT1B1, SULT1E1, TECRL, THAP6, TMEM165, USO1, USP46, USP46-DT, UTP3, YTHDC1 | | Partial albinism | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr4:55595534
- GRCh38:
- Chr4:54729368
| KIT | Y671C, Y672C, Y676C, Y675C | Partial albinism | Uncertain significance
(Feb 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49833987
- GRCh38:
- Chr8:48921428
| SNAI2 | | Partial albinism | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49833864
- GRCh38:
- Chr8:48921305
| SNAI2 | | Partial albinism | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49830340
- GRCh38:
- Chr8:48917781
| SNAI2 | | Partial albinism | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49830255
- GRCh38:
- Chr8:48917696
| SNAI2 | | Partial albinism | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49832975
- GRCh38:
- Chr8:48920416
| SNAI2 | E35D | Partial albinism | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49832843
- GRCh38:
- Chr8:48920284
| SNAI2 | | Partial albinism | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49832799
- GRCh38:
- Chr8:48920240
| SNAI2 | T94I | Partial albinism | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49831320
- GRCh38:
- Chr8:48918761
| SNAI2 | | Partial albinism | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49831237
- GRCh38:
- Chr8:48918678
| SNAI2 | | Partial albinism | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49830946
- GRCh38:
- Chr8:48918387
| SNAI2 | | Partial albinism | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49830938
- GRCh38:
- Chr8:48918379
| SNAI2 | | Partial albinism | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49830937
- GRCh38:
- Chr8:48918378
| SNAI2 | | Partial albinism | Uncertain significance
(Mar 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49830854
- GRCh38:
- Chr8:48918295
| SNAI2 | | Partial albinism | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49830447
- GRCh38:
- Chr8:48917888
| SNAI2 | | Partial albinism | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55606779
- GRCh38:
- Chr4:54740613
| KIT | | Gastrointestinal stroma tumor, Partial albinism, Mastocytosis
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55605943
- GRCh38:
- Chr4:54739777
| KIT | | Gastrointestinal stroma tumor, Partial albinism, Mastocytosis
| Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55605913
- GRCh38:
- Chr4:54739747
| KIT | | Gastrointestinal stroma tumor, Partial albinism, Mastocytosis
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55605298
- GRCh38:
- Chr4:54739132
| KIT | | Gastrointestinal stroma tumor, Mastocytosis, Partial albinism
| Uncertain significance
(Apr 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55604789
- GRCh38:
- Chr4:54738623
| KIT | | Mastocytosis, Gastrointestinal stroma tumor, Partial albinism,
not provided | Benign/Likely benign
(Jun 23, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55604760
- GRCh38:
- Chr4:54738594
| KIT | | Gastrointestinal stroma tumor, Mastocytosis, Partial albinism
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55606764
- GRCh38:
- Chr4:54740598
| KIT | | Mastocytosis, Gastrointestinal stroma tumor, Partial albinism
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55606740
- GRCh38:
- Chr4:54740574
| KIT | | Mastocytosis, Gastrointestinal stroma tumor, Partial albinism
| Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55606557
- GRCh38:
- Chr4:54740391
| KIT | | Mastocytosis, Partial albinism, Gastrointestinal stroma tumor
| Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:55605810
- GRCh38:
- Chr4:54739644
| KIT | | Mastocytosis, Partial albinism, Gastrointestinal stroma tumor
| Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55605253
- GRCh38:
- Chr4:54739087
| KIT | | Mastocytosis, Gastrointestinal stroma tumor, Partial albinism
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55605113
- GRCh38:
- Chr4:54738947
| KIT | | Mastocytosis, Gastrointestinal stroma tumor, Partial albinism
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55605104
- GRCh38:
- Chr4:54738938
| KIT | | Mastocytosis, Gastrointestinal stroma tumor, Partial albinism
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55604740
- GRCh38:
- Chr4:54738574
| KIT | | Mastocytosis, Gastrointestinal stroma tumor, Partial albinism
| Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55561821
- GRCh38:
- Chr4:54695655
| KIT | L71V | Mastocytosis, Gastrointestinal stroma tumor, Partial albinism
| Uncertain significance
(May 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55524260
- GRCh38:
- Chr4:54658093
| KIT | | Mastocytosis, Gastrointestinal stroma tumor, Partial albinism
| Conflicting interpretations of pathogenicity
(Oct 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:55605652
- GRCh38:
- Chr4:54739486
| KIT | | Mastocytosis, Gastrointestinal stroma tumor, Partial albinism
| Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:55605022
- GRCh38:
- Chr4:54738856
| KIT | | Mastocytosis, not provided, Gastrointestinal stroma tumor,
Partial albinism | Conflicting interpretations of pathogenicity
(Mar 16, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:55564727
- GRCh38:
- Chr4:54698561
| KIT | | Mastocytosis, Gastrointestinal stroma tumor, Partial albinism
| Uncertain significance
(Apr 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524161
- GRCh38:
- Chr4:54657994
| KIT | | Mastocytosis, Gastrointestinal stroma tumor, Partial albinism
| Benign/Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524126
- GRCh38:
- Chr4:54657959
| KIT | | Mastocytosis, Gastrointestinal stroma tumor, Partial albinism
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55606300
- GRCh38:
- Chr4:54740134
| KIT | | Mastocytosis, Gastrointestinal stroma tumor, Partial albinism
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55605611
- GRCh38:
- Chr4:54739445
| KIT | | Mastocytosis, Gastrointestinal stroma tumor, Partial albinism
| Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55605424
- GRCh38:
- Chr4:54739258
| KIT | | Mastocytosis, Gastrointestinal stroma tumor, Partial albinism
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55561688
- GRCh38:
- Chr4:54695522
| KIT | Q26H | Gastrointestinal stroma tumor, Partial albinism, Mastocytosis
| Uncertain significance
(Apr 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55602743
- GRCh38:
- Chr4:54736577
| KIT | Y851C, Y855C, Y850C, Y852C, Y854C, Y856C | Hereditary cancer-predisposing syndrome, Gastrointestinal stroma tumor, Cutaneous mastocytosis,
Germ cell tumor of testis, Partial albinism, Acute myeloid leukemia,
Gastrointestinal stroma tumor, not provided | Conflicting interpretations of pathogenicity
(Sep 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:49832715
- GRCh38:
- Chr8:48920156
| SNAI2 | A122V | not specified, Partial albinism, not provided
| Benign/Likely benign
(May 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55589782
- GRCh38:
- Chr4:54723616
| KIT | V422M, V423M | Hereditary cancer-predisposing syndrome, Mastocytosis, Gastrointestinal stroma tumor,
Partial albinism | Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:55604628
- GRCh38:
- Chr4:54738462
| KIT | R946*, R942*, R941*, R943*, R945*, R947* | Hereditary cancer-predisposing syndrome, Malignant tumor of testis, Partial albinism,
Acute myeloid leukemia, Gastrointestinal stroma tumor, Mastocytosis,
Gastrointestinal stroma tumor | Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55575659
- GRCh38:
- Chr4:54709493
| KIT | | Gastrointestinal stroma tumor, Partial albinism, Hereditary cancer-predisposing syndrome,
Mastocytosis | Conflicting interpretations of pathogenicity
(Oct 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:55602741
- GRCh38:
- Chr4:54736575
| KIT | | Partial albinism, Hereditary cancer-predisposing syndrome, Mastocytosis,
Gastrointestinal stroma tumor | Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:55573316
- GRCh38:
- Chr4:54707150
| KIT | | Gastrointestinal stroma tumor, Partial albinism, Hereditary cancer-predisposing syndrome,
Mastocytosis | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:55561912
- GRCh38:
- Chr4:54695746
| KIT | H101R | Mastocytosis, Acute myeloid leukemia, Partial albinism,
Malignant tumor of testis, Gastrointestinal stroma tumor, Gastrointestinal stroma tumor,
Hereditary cancer-predisposing syndrome | Uncertain significance
(Oct 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55604692
- GRCh38:
- Chr4:54738526
| KIT | S967C, S963C, S962C, S964C, S966C, S968C | Mastocytosis, Acute myeloid leukemia, Partial albinism,
Malignant tumor of testis, Gastrointestinal stroma tumor, Gastrointestinal stroma tumor
| Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55595567
- GRCh38:
- Chr4:54729401
| KIT | R686H, R682H, R683H, R687H | Gastrointestinal stroma tumor, Mastocytosis, Acute myeloid leukemia,
Partial albinism, Malignant tumor of testis, Gastrointestinal stroma tumor,
Hereditary cancer-predisposing syndrome | Uncertain significance
(Nov 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55564643
- GRCh38:
- Chr4:54698477
| KIT | | Hereditary cancer-predisposing syndrome, Cutaneous mastocytosis, Acute myeloid leukemia,
Gastrointestinal stroma tumor, Partial albinism, Germ cell tumor of testis,
Gastrointestinal stroma tumor | Likely benign
(Oct 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55561862
- GRCh38:
- Chr4:54695696
| KIT | | Hereditary cancer-predisposing syndrome, Mastocytosis, Gastrointestinal stroma tumor,
Partial albinism | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:55598034
- GRCh38:
- Chr4:54731868
| KIT | | Partial albinism, Mastocytosis, Hereditary cancer-predisposing syndrome,
Gastrointestinal stroma tumor | Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:55604655
- GRCh38:
- Chr4:54738489
| KIT | V955L, V951L, V950L, V952L, V954L, V956L | Gastrointestinal stroma tumor, Hereditary cancer-predisposing syndrome, Mastocytosis,
Malignant tumor of testis, Partial albinism, Gastrointestinal stroma tumor,
Acute myeloid leukemia | Uncertain significance
(Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55595614
- GRCh38:
- Chr4:54729448
| KIT | L702V, L698V, L699V, L703V | Gastrointestinal stroma tumor, Hereditary cancer-predisposing syndrome, Mastocytosis,
Malignant tumor of testis, Partial albinism, Gastrointestinal stroma tumor,
Acute myeloid leukemia | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55604679
- GRCh38:
- Chr4:54738513
| KIT | T963A, T959A, T958A, T960A, T962A, T964A | Mastocytosis, Malignant tumor of testis, Partial albinism,
Gastrointestinal stroma tumor, Acute myeloid leukemia, Gastrointestinal stroma tumor
| Uncertain significance
(Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55575613
- GRCh38:
- Chr4:54709447
| KIT | T380M, T381M | Partial albinism, Hereditary cancer-predisposing syndrome, Mastocytosis,
Gastrointestinal stroma tumor | Uncertain significance
(Aug 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55593461
- GRCh38:
- Chr4:54727295
| KIT | V540L, V536L, V537L, V541L | Gastrointestinal stroma tumor, Partial albinism, Mastocytosis
| Uncertain significance
(Oct 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55598097
- GRCh38:
- Chr4:54731931
| KIT | D765G, D761G, D760G, D762G, D764G, D766G | Partial albinism, Mastocytosis, Malignant tumor of testis,
Partial albinism, Gastrointestinal stroma tumor, Acute myeloid leukemia,
Gastrointestinal stroma tumor | Uncertain significance
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55594186
- GRCh38:
- Chr4:54728020
| KIT | H630R, H626R, H627R, H631R | Hereditary cancer-predisposing syndrome, Partial albinism, Mastocytosis,
Gastrointestinal stroma tumor | Uncertain significance
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55561758
- GRCh38:
- Chr4:54695592
| KIT | V50L | Gastrointestinal stroma tumor, Partial albinism, Hereditary cancer-predisposing syndrome,
Mastocytosis, not provided | Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55604640
- GRCh38:
- Chr4:54738474
| KIT | V950M, V946M, V945M, V947M, V949M, V951M | not provided, Gastrointestinal stroma tumor, Partial albinism,
Hereditary cancer-predisposing syndrome, Mastocytosis | Conflicting interpretations of pathogenicity
(Jul 6, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:55595510
- GRCh38:
- Chr4:54729344
| KIT | L667R, L663R, L664R, L668R | Partial albinism | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr8:49833926
- GRCh38:
- Chr8:48921367
| SNAI2 | | Partial albinism | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49833906
- GRCh38:
- Chr8:48921347
| SNAI2 | | Partial albinism | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49833901
- GRCh38:
- Chr8:48921342
| SNAI2 | | Partial albinism | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49833860
- GRCh38:
- Chr8:48921301
| SNAI2 | | Partial albinism | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49833837
- GRCh38:
- Chr8:48921278
| SNAI2 | | Partial albinism | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49833833
- GRCh38:
- Chr8:48921274
| SNAI2 | | Partial albinism | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49832950
- GRCh38:
- Chr8:48920391
| SNAI2 | Q44K | Partial albinism | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49832861
- GRCh38:
- Chr8:48920302
| SNAI2 | | Partial albinism | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49832823
- GRCh38:
- Chr8:48920264
| SNAI2 | V86A | Partial albinism | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49832474
- GRCh38:
- Chr8:48919915
| SNAI2 | | not specified, Partial albinism, not provided
| Benign/Likely benign
(Oct 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:49831444
- GRCh38:
- Chr8:48918885
| SNAI2 | | Partial albinism | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49831340
- GRCh38:
- Chr8:48918781
| SNAI2 | | Partial albinism | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49831217
- GRCh38:
- Chr8:48918658
| SNAI2 | | Partial albinism | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49831032
- GRCh38:
- Chr8:48918473
| SNAI2 | | Partial albinism | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49831026
- GRCh38:
- Chr8:48918467
| SNAI2 | | Partial albinism | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49830593
- GRCh38:
- Chr8:48918034
| SNAI2 | | Partial albinism | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:49830402
- GRCh38:
- Chr8:48917843
| SNAI2 | | Partial albinism | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55606531
- GRCh38:
- Chr4:54740365
| KIT | | Gastrointestinal stroma tumor, Mastocytosis, Partial albinism
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55606514
- GRCh38:
- Chr4:54740348
| KIT | | Gastrointestinal stroma tumor, not provided, Mastocytosis,
Partial albinism | Benign/Likely benign
(Apr 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55606427
- GRCh38:
- Chr4:54740261
| KIT | | Gastrointestinal stroma tumor, not provided, Mastocytosis,
Partial albinism | Benign
(May 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55606247
- GRCh38:
- Chr4:54740081
| KIT | | Gastrointestinal stroma tumor, Mastocytosis, Partial albinism
| Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55606208-55606211
- GRCh38:
- Chr4:54740042-54740045
| KIT | | Gastrointestinal stroma tumor, Mastocytosis, Partial albinism
| Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55605964
- GRCh38:
- Chr4:54739798
| KIT | | Gastrointestinal stroma tumor, Mastocytosis, Partial albinism
| Benign/Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55605824
- GRCh38:
- Chr4:54739658
| KIT | | Gastrointestinal stroma tumor, Mastocytosis, Partial albinism
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55605809
- GRCh38:
- Chr4:54739643
| KIT | | Gastrointestinal stroma tumor, Mastocytosis, Partial albinism
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55605782
- GRCh38:
- Chr4:54739616
| KIT | | Gastrointestinal stroma tumor, Mastocytosis, Partial albinism
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55605513
- GRCh38:
- Chr4:54739347
| KIT | | Gastrointestinal stroma tumor, Mastocytosis, Partial albinism
| Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55605320
- GRCh38:
- Chr4:54739154
| KIT | | Gastrointestinal stroma tumor, Mastocytosis, Partial albinism
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55605116
- GRCh38:
- Chr4:54738950
| KIT | | Gastrointestinal stroma tumor, Mastocytosis, Partial albinism
| Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55605091
- GRCh38:
- Chr4:54738925
| KIT | | Gastrointestinal stroma tumor, Mastocytosis, Partial albinism
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55605075
- GRCh38:
- Chr4:54738909
| KIT | | Gastrointestinal stroma tumor, Partial albinism, not provided,
Mastocytosis | Benign/Likely benign
(May 13, 2021) | criteria provided, multiple submitters, no conflicts |