| - GRCh37:
- Chr4:44358218-63111600
- GRCh38:
- Chr4:44356201-62245882
| AASDH, ADGRL3, ADGRL3-AS1, ARL9, ATP10D, CEP135, CHIC2, CLOCK, CNGA1, COMMD8, CORIN, COX7B2, CRACD, CWH43, DANCR, DCUN1D4, ERVMER34-1, EXOC1, EXOC1L, FIP1L1, FRYL, GABRA2, GABRA4, GABRB1, GABRG1, GNPDA2, GSX2, GUF1, HOPX, IGFBP7, IGFBP7-AS1, KCTD8, KDR, KIT, LINC01618, LINC02260, LINC02271, LINC02283, LINC02380, LINC02429, LINC02480, LINC02494, LINC02496, LINC02619, LNX1, LNX1-AS1, LNX1-AS2, LOC100506444, LOC101927157, LOC101927179, LOC110120742, LOC110120745, LOC110121111, LOC110121177, LOC110121183, LOC110121309, LOC112978663, LOC114004386, LOC116158486, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC121048744, LOC121048745, LOC121053178, LOC121053179, LOC121053180, LOC121053181, LOC121053182, LOC121725171, LOC123477735, LOC123477736, LOC123477737, LOC123477738, LOC123477739, LOC123477740, LOC123477741, LOC123477742, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LOC123477748, LOC123477749, LRRC66, MIR4449, MIR548AG1, MIR8053, NFXL1, NIPAL1, NMU, NOA1, OCIAD1, OCIAD1-AS1, OCIAD2, PAICS, PDCL2, PDGFRA, POLR2B, PPAT, RASL11B, REST, SCFD2, SGCB, SLAIN2, SLC10A4, SNORA26, SPATA18, SPINK2, SRD5A3, SRD5A3-AS1, SRP72, TEC, THEGL, TMEM165, TXK, USP46, USP46-DT, YIPF7, ZAR1 | | See cases | Pathogenic
(Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52697788-98426769
- GRCh38:
- Chr4:51831622-97505618
| LOC116158496, SNORD144, PDCL2, LOC121725174, BMP2K, UGT2B7, COQ2, LINC02496, CXCL1, ENAM, AFF1, LOC110351180, LOC112997534, RASGEF1B, AMTN, LOC121725172, LOC112997545, ANKRD17-DT, MIR5096, KDR, PLAC8, LOC116158493, TMPRSS11A, MTHFD2L, HERC5, ADGRL3-AS1, SPINK2, ART3, CCDC158, LOC112997546, LINC02494, LOC123477777, LOC112997542, IBSP, ARHGAP24, SCPPPQ1, LOC123477775, PPM1K-DT, SULT1B1, NUDT9, FAM13A, LOC123477787, UGT2B15, LOC116158491, G3BP2, PRKG2, TMEM150C, LOC110120783, LOC123477757, LOC112978669, ANKRD17, NPFFR2, LOC116158492, YTHDC1, DANCR, TMEM165, ABCG2, PARM1, NMU, LINC02619, MRPS18C, LOC112997539, LOC112997540, SDAD1-AS1, LOC123477750, LOC116158501, LOC123477756, LOC123477744, LINC02562, MIR548AH, NUP54, ADGRL3, DCUN1D4, LOC121053185, PRKG2-AS1, CRACD, BMP3, LOC110120742, LOC110120743, GPRIN3, LOC123477769, CXCL2, LOC105377267, UGT2B17, ADAMTS3, LOC123477743, GNRHR, UGT2A1, UNC5C-AS1, LOC123477748, BMPR1B, USP46-DT, LOC123477759, SOWAHB, AASDH, CXCL11, LOC123477781, STATH, NAA11, TMPRSS11B, EREG, LOC123477755, HPGDS, UGT2B4, HOPX, SULT1E1, TMPRSS11E, C4orf36, LNX1-AS2, FAM13A-AS1, LOC110121104, HELQ, LOC110121083, GRID2, LOC123477782, LOC123477753, CSN2, LINC02429, MMRN1, LOC121053184, PDGFRA, SHROOM3-AS1, AREG, MIR1269A, STAP1, SCD5, FGF5, GK2, LOC123477745, LINC02499, GPAT3, LOC123477772, LOC116158488, TECRL, PPEF2, PPAT, LOC112997535, LOC111365205, LOC100506444, HERC3, KIT, LINC01618, LOC110120752, PYURF, LOC112997547, KLHL8, LNX1, LOC111589210, ANTXR2, LOC116158502, LOC114803476, LOC110121177, LOC121053181, LOC123477785, LINC02480, NAAA, LOC116158500, CEP135, LOC114004386, CCNG2, IGFBP7, MUC7, FAM47E, WDFY3, LOC123477783, SLC10A6, AFF1-AS1, LOC112997544, UTP3, LINC02232, LOC123477751, LOC123477784, LOC121053180, LOC116158495, DSPP, CXCL6, LOC112997541, OPRPN, CDKL2, TMPRSS11D, EXOC1, UGT2B28, ATOH1, LOC121725171, ENOPH1, LOC121725177, FAM47E-STBD1, LOC111832670, UNC5C, ODAM, SNORA26, LINC02267, LOC123477763, LOC123477768, SNCA-AS1, LOC116158497, UGT2A3, SMARCAD1, GSX2, LOC123477766, PAICS, ARL9, PPBP, LOC123477786, SNORD143, CXCL10, SNORD161, LOC121053179, SMARCAD1-DT, THEGL, DCK, LIN54, LINC01094, HNRNPD, HSD17B11, SHROOM3, SPATA18, MAPK10, MIR5705, LOC123477779, PIGY-DT, LINC02994, PRDM8, AFM, AMBN, LOC123477758, GRSF1, HNRNPDL, RASL11B, SNCA, CSN3, LOC123477788, LOC116158499, MEPE, LOC550113, EPHA5, SRD5A3-AS1, HTN3, CCNI, UGT2B10, STPG2-AS1, LOC123477761, MRPL1, CDS1, HPSE, LINC01088, THAP6, MIR575, LOC123477754, LOC116158503, MOB1B, CHIC2, LOC123477752, SGCB, SRD5A3, LOC116158487, LINC02380, MIR4451, REST, LOC123477742, RASSF6, PCAT4, LOC123477764, LINC02483, LINC00989, NKX6-1, LOC112978670, LOC111828520, MIR548AG1, LOC121725175, LOC112978671, PKD2, AFP, LINC00575, LOC123477762, SPARCL1, LOC110121111, WDFY3-AS1, HERC6, SCARB2, USO1, LOC101927237, PARM1-AS1, MAPK10-AS1, LOC107988048, CENPC, ALB, LOC111591506, PF4V1, LOC123477778, LOC121053183, LOC123477771, SMR3B, LNX1-AS1, LOC123477790, BMPR1B-DT, CXCL9, PRR27, CNOT6L, THAP9-AS1, LOC114827842, UBA6, UGT2A2, PF4, LOC110121183, LOC121725173, LOC121053186, THAP9, PPM1K, LOC121725176, SCFD2, LRRC66, CFAP299, PIGY, PDLIM5, LOC123477747, GC, LOC123477770, MIR4452, STBD1, USP46, PDHA2, SEC31A, LOC112997537, LOC116158489, CABS1, CXCL8, COPS4, PAQR3, LOC116158490, SMR3A, SEPTIN11, BTC, FIP1L1, SPP1, LOC123477789, LOC123477780, LOC123477749, LOC123477767, JCHAIN, LOC112997538, DMP1, RCHY1, LOC123477746, SRP72, CSN1S1, LOC116158494, TIGD2, EXOC1L, RUFY3, IGFBP7-AS1, NOA1, ANXA3, LINC02271, LOC121725178, COX18, SLC4A4, CLOCK, WDFY3-AS2, LNCPRESS2, LOC123477776, MIR4450, LOC123477773, LOC123477774, EPHA5-AS1, LOC121053188, HTN1, LOC110120745, EPGN, FRAS1, TMPRSS11F, LOC110283621, LOC123477765, PTPN13, CCSER1, STPG2, HNRNPD-DT, CXCL13, LOC111832671, POLR2B, ABRAXAS1, LOC112997543, LOC123477760, FDCSP, LINC02260, PRDM8-AS1, CXCL3, HSD17B13, NAP1L5, LINC02283, UBA6-DT, CXCL5, ODAPH, ERVMER34-1, LOC116158498, LOC121053187, MIR4449, LOC121053182, UGT2B11, SDAD1 | | See cases | Pathogenic
(Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52697788-67857207
- GRCh38:
- Chr4:51831622-66991489
| AASDH, ADGRL3, ADGRL3-AS1, ARL9, CEP135, CHIC2, CLOCK, CRACD, DANCR, DCUN1D4, EPHA5, EPHA5-AS1, ERVMER34-1, EXOC1, EXOC1L, FIP1L1, GSX2, HOPX, IGFBP7, IGFBP7-AS1, KDR, KIT, LINC01618, LINC02232, LINC02260, LINC02271, LINC02283, LINC02380, LINC02429, LINC02480, LINC02494, LINC02496, LINC02619, LNX1, LNX1-AS1, LNX1-AS2, LOC100506444, LOC110120742, LOC110120745, LOC110120783, LOC110121111, LOC110121177, LOC110121183, LOC114004386, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC121053179, LOC121053180, LOC121053181, LOC121053182, LOC121725171, LOC123477742, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LOC123477748, LOC123477749, LOC123477750, LRRC66, MIR1269A, MIR4449, MIR548AG1, NMU, NOA1, PAICS, PDCL2, PDGFRA, POLR2B, PPAT, RASL11B, REST, SCFD2, SGCB, SNORA26, SPATA18, SPINK2, SRD5A3, SRD5A3-AS1, SRP72, TECRL, THEGL, TMEM165, USP46, USP46-DT | | See cases | Pathogenic
(Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52736191-55968559
- GRCh38:
- Chr4:51870025-55102392
| CHIC2, DANCR, DCUN1D4, ERVMER34-1, FIP1L1, GSX2, KDR, KIT, LINC01618, LINC02260, LINC02283, LINC02480, LNX1, LNX1-AS1, LNX1-AS2, LOC100506444, LOC110120742, LOC110120745, LOC110121111, LOC110121183, LOC114004386, LOC116158487, LOC116158488, LOC123477742, LOC123477743, LOC123477744, LRRC66, MIR4449, PDGFRA, RASL11B, SCFD2, SGCB, SNORA26, SPATA18, USP46, USP46-DT | | See cases | Pathogenic
(Aug 12, 2011) | criteria provided, single submitter |
| - GRCh38:
- Chr4:51891814-76009719
| ADGRL3, LOC123477746, USP46-DT, LOC111832670, LOC116158487, SRD5A3, EXOC1, LOC123477750, LOC123477756, FIP1L1, LINC02429, IGFBP7-AS1, NAAA, SDAD1-AS1, AMBN, KDR, ODAM, LOC123477751, TMPRSS11B, LOC123477754, GSX2, UGT2A2, PDGFRA, CSN2, UGT2B17, ANKRD17, ALB, SRD5A3-AS1, LINC02496, LOC114827842, TMPRSS11F, LOC121725172, CEP135, PPAT, RASSF6, CENPC, UBA6-DT, LOC116158491, STATH, LOC121053185, LINC02619, BTC, ADGRL3-AS1, LINC02562, ANKRD17-DT, LOC114803476, LINC01618, LOC123477748, LOC123477743, LOC121053182, REST, AREG, EPGN, LOC123477762, UGT2B28, TECRL, GRSF1, CDKL2, LINC02483, CXCL3, MTHFD2L, ODAPH, LOC121053179, CXCL9, LOC116158494, LOC116158496, GC, MUC7, PRR27, PARM1-AS1, LOC123477765, MIR4449, CABS1, SPINK2, RCHY1, SCFD2, LOC114004386, THAP6, STAP1, LINC02283, PAICS, LOC110121111, RUFY3, LOC105377267, LOC111828520, UGT2B4, LINC02380, EPHA5-AS1, LRRC66, LOC110120742, ENAM, NOA1, PPEF2, CXCL8, LINC02480, DCK, IGFBP7, LOC123477755, ERVMER34-1, AFM, LOC111832671, UGT2B15, LOC100506444, UGT2B11, KIT, PF4V1, SLC4A4, HTN1, TMPRSS11D, NPFFR2, AFP, SULT1B1, AMTN, EPHA5, LOC112978670, SULT1E1, TMPRSS11A, USO1, CSN1S1, LOC123477761, LINC02499, COX18, NMU, POLR2B, SMR3B, UTP3, LOC121053183, LOC123477753, LOC112978671, LOC123477763, HOPX, LOC123477747, UGT2B10, G3BP2, LINC02232, LOC123477745, SGCB, LOC121053186, DCUN1D4, CHIC2, TMEM165, LOC123477759, LOC116158492, LOC110120783, LOC550113, GNRHR, LOC121725171, DANCR, LOC116158493, SRP72, SDAD1, SPATA18, LOC116158495, LOC121053180, LINC02494, JCHAIN, PPBP, LINC02271, LOC123477749, ADAMTS3, LOC112978669, LOC121053181, LOC123477752, SNORA26, CXCL6, LOC110121177, AASDH, LOC101927237, LOC116158489, PDCL2, UGT2B7, CXCL5, CRACD, LOC123477766, LOC116158488, PF4, LOC123477758, FDCSP, LOC123477742, SMR3A, UBA6, LOC110120745, LINC02260, LOC110121183, OPRPN, LOC123477760, LOC116158490, MIR548AG1, LOC123477744, UGT2A1, CXCL1, MIR1269A, LNX1-AS1, RASL11B, CSN3, PARM1, LOC111589210, TMPRSS11E, USP46, LOC121053184, CXCL2, THEGL, HTN3, LOC123477757, LNX1, YTHDC1, LNX1-AS2, CLOCK, EREG, EXOC1L, LOC123477764, UGT2A3, MOB1B, ARL9 | | Partial albinism | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr4:52766026-60850197
- GRCh38:
- Chr4:51899860-59984479
| AASDH, ARL9, CEP135, CHIC2, CLOCK, CRACD, DANCR, DCUN1D4, ERVMER34-1, EXOC1, EXOC1L, FIP1L1, GSX2, HOPX, IGFBP7, IGFBP7-AS1, KDR, KIT, LINC01618, LINC02260, LINC02283, LINC02380, LINC02429, LINC02480, LINC02494, LINC02619, LNX1, LNX1-AS1, LNX1-AS2, LOC100506444, LOC110120742, LOC110120745, LOC110121111, LOC110121177, LOC110121183, LOC114004386, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC121053179, LOC121053180, LOC121725171, LOC123477742, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LRRC66, MIR4449, NMU, NOA1, PAICS, PDCL2, PDGFRA, POLR2B, PPAT, RASL11B, REST, SCFD2, SGCB, SNORA26, SPATA18, SPINK2, SRD5A3, SRD5A3-AS1, SRP72, THEGL, TMEM165, USP46, USP46-DT | | See cases | Pathogenic
(Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:53505185-60850197
- GRCh38:
- Chr4:52639018-59984479
| LOC110120742, LOC110120745, LOC110121111, LOC110121177, LOC110121183, LOC114004386, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC121053179, LOC121053180, LOC121725171, LOC123477742, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, MIR4449, NMU, NOA1, PAICS, PDCL2, PDGFRA, POLR2B, PPAT, RASL11B, REST, SCFD2, SNORA26, SPINK2, SRD5A3, SRD5A3-AS1, SRP72, THEGL, TMEM165, USP46, USP46-DT, AASDH, ARL9, CEP135, CHIC2, CLOCK, CRACD, DANCR, ERVMER34-1, EXOC1, EXOC1L, FIP1L1, GSX2, HOPX, IGFBP7, IGFBP7-AS1, KDR, KIT, LINC01618, LINC02260, LINC02283, LINC02380, LINC02429, LINC02494, LINC02619, LNX1, LNX1-AS1, LNX1-AS2, LOC100506444 | | See cases | Pathogenic
(Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55064768-63135833
- GRCh38:
- Chr4:54198601-62270115
| AASDH, ADGRL3, ADGRL3-AS1, ARL9, CEP135, CLOCK, CRACD, EXOC1, EXOC1L, HOPX, IGFBP7, IGFBP7-AS1, KDR, KIT, LINC02260, LINC02271, LINC02283, LINC02380, LINC02429, LINC02494, LINC02496, LINC02619, LOC110121177, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC121053179, LOC121053180, LOC121053181, LOC121053182, LOC121725171, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LOC123477748, LOC123477749, MIR548AG1, NMU, NOA1, PAICS, PDCL2, PDGFRA, POLR2B, PPAT, REST, SPINK2, SRD5A3, SRD5A3-AS1, SRP72, THEGL, TMEM165 | | See cases | Pathogenic
(Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55523938
- GRCh38:
- Chr4:54657771
| KIT | | not provided | Benign
(Jun 22, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524126
- GRCh38:
- Chr4:54657959
| KIT | | Gastrointestinal stromal tumor, Partial albinism, Mastocytosis
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524161
- GRCh38:
- Chr4:54657994
| KIT | | Gastrointestinal stromal tumor, Partial albinism, Mastocytosis
| Benign/Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524168
- GRCh38:
- Chr4:54658001
| KIT | | not specified, Mastocytosis, Gastrointestinal stromal tumor,
Partial albinism | Conflicting interpretations of pathogenicity
(Nov 3, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:55524172-55524258
- GRCh38:
- Chr4:54658005-54658091
| KIT | | Gastrointestinal stromal tumor | Uncertain significance
(Apr 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524177
- GRCh38:
- Chr4:54658010
| KIT | | Hereditary cancer-predisposing syndrome | Uncertain significance
(Mar 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524188
- GRCh38:
- Chr4:54658021
| KIT | G3R | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor | Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55524189
- GRCh38:
- Chr4:54658022
| KIT | G3D | Gastrointestinal stromal tumor | Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524190
- GRCh38:
- Chr4:54658023
| KIT | | Gastrointestinal stromal tumor | Uncertain significance
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524190
- GRCh38:
- Chr4:54658023
| KIT | | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome | Likely benign
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55524191
- GRCh38:
- Chr4:54658024
| KIT | A4T | Gastrointestinal stromal tumor | Uncertain significance
(Mar 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524191
- GRCh38:
- Chr4:54658024
| KIT | A4S | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55524191-55524192
- GRCh38:
- Chr4:54658024-54658025
| KIT | A4F | Gastrointestinal stromal tumor | Uncertain significance
(Sep 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524191
- GRCh38:
- Chr4:54658024
| KIT | A4P | Gastrointestinal stromal tumor | Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524192
- GRCh38:
- Chr4:54658025
| KIT | A4V | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor | Uncertain significance
(Apr 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55524193
- GRCh38:
- Chr4:54658026
| KIT | | Hereditary cancer-predisposing syndrome | Likely benign
(Aug 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524194
- GRCh38:
- Chr4:54658027
| KIT | R5G | Gastrointestinal stromal tumor | Uncertain significance
(Jan 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524195
- GRCh38:
- Chr4:54658028
| KIT | R5P | Gastrointestinal stromal tumor | Uncertain significance
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524196
- GRCh38:
- Chr4:54658029
| KIT | | Gastrointestinal stromal tumor | Likely benign
(Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524196
- GRCh38:
- Chr4:54658029
| KIT | | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor | Likely benign
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55524198
- GRCh38:
- Chr4:54658031
| KIT | G6D | Gastrointestinal stromal tumor | Uncertain significance
(Jan 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524199
- GRCh38:
- Chr4:54658032
| KIT | | Hereditary cancer-predisposing syndrome | Likely benign
(Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524200
- GRCh38:
- Chr4:54658033
| KIT | A7S | Gastrointestinal stromal tumor | Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524200
- GRCh38:
- Chr4:54658033
| KIT | A7T | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor | Uncertain significance
(Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55524201
- GRCh38:
- Chr4:54658034
| KIT | A7G | Hereditary cancer-predisposing syndrome | Uncertain significance
(Sep 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524201
- GRCh38:
- Chr4:54658034
| KIT | A7V | Gastrointestinal stromal tumor | Uncertain significance
(Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524202
- GRCh38:
- Chr4:54658035
| KIT | | Hereditary cancer-predisposing syndrome | Likely benign
(Oct 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524202-55524203
- GRCh38:
- Chr4:54658035-54658036
| KIT | W8fs | not provided | Pathogenic
(Nov 12, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524202
- GRCh38:
- Chr4:54658035
| KIT | | Gastrointestinal stromal tumor | Likely benign
(Jan 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524203
- GRCh38:
- Chr4:54658036
| KIT | W8G | Hereditary cancer-predisposing syndrome | Uncertain significance
(Dec 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524203
- GRCh38:
- Chr4:54658036
| KIT | W8R | Gastrointestinal stromal tumor | Uncertain significance
(Oct 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524203
- GRCh38:
- Chr4:54658036
| KIT | W8R | Gastrointestinal stromal tumor | Uncertain significance
(Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524206
- GRCh38:
- Chr4:54658039
| KIT | D9N | Gastrointestinal stromal tumor | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524207
- GRCh38:
- Chr4:54658040
| KIT | D9G | Gastrointestinal stromal tumor | Uncertain significance
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524210
- GRCh38:
- Chr4:54658043
| KIT | F10S | Gastrointestinal stromal tumor | Uncertain significance
(May 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524212
- GRCh38:
- Chr4:54658045
| KIT | L11F | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor | Uncertain significance
(Sep 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55524213-55524214
- GRCh38:
- Chr4:54658046-54658047
| KIT | C12fs | Gastrointestinal stromal tumor | Pathogenic
(Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524214
- GRCh38:
- Chr4:54658047
| KIT | | Gastrointestinal stromal tumor | Uncertain significance
(Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524215
- GRCh38:
- Chr4:54658048
| KIT | C12R | Gastrointestinal stromal tumor | Uncertain significance
(Jan 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524216
- GRCh38:
- Chr4:54658049
| KIT | C12S | Gastrointestinal stromal tumor | Uncertain significance
(Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524217
- GRCh38:
- Chr4:54658050
| KIT | | Gastrointestinal stromal tumor | Likely benign
(Mar 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524218
- GRCh38:
- Chr4:54658051
| KIT | V13L | Hereditary cancer-predisposing syndrome | Uncertain significance
(Feb 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524218
- GRCh38:
- Chr4:54658051
| KIT | V13I | Gastrointestinal stromal tumor | Uncertain significance
(Feb 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524221
- GRCh38:
- Chr4:54658054
| KIT | | Hereditary cancer-predisposing syndrome | Likely benign
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524224
- GRCh38:
- Chr4:54658057
| KIT | L15F | Gastrointestinal stromal tumor | Uncertain significance
(Aug 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524225
- GRCh38:
- Chr4:54658058
| KIT | L15P | Gastrointestinal stromal tumor | Uncertain significance
(May 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524226
- GRCh38:
- Chr4:54658059
| KIT | | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor | Likely benign
(Feb 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55524226
- GRCh38:
- Chr4:54658059
| KIT | | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor | Likely benign
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55524228
- GRCh38:
- Chr4:54658061
| KIT | L16P | Hereditary cancer-predisposing syndrome | Uncertain significance
(Nov 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524229
- GRCh38:
- Chr4:54658062
| KIT | | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome | Likely benign
(May 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55524230
- GRCh38:
- Chr4:54658063
| KIT | L17V | Gastrointestinal stromal tumor | Uncertain significance
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524231
- GRCh38:
- Chr4:54658064
| KIT | L17P | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
| Uncertain significance
(Apr 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55524232
- GRCh38:
- Chr4:54658065
| KIT | | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor | Likely benign
(Nov 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55524233
- GRCh38:
- Chr4:54658066
| KIT | L18V | Gastrointestinal stromal tumor | Uncertain significance
(Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524233
- GRCh38:
- Chr4:54658066
| KIT | L18F | Hereditary cancer-predisposing syndrome, not provided, Mastocytosis,
Gastrointestinal stromal tumor | Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55524236
- GRCh38:
- Chr4:54658069
| KIT | R19S | Gastrointestinal stromal tumor | Uncertain significance
(Sep 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524237
- GRCh38:
- Chr4:54658070
| KIT | R19L | Hereditary cancer-predisposing syndrome | Uncertain significance
(Mar 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524237
- GRCh38:
- Chr4:54658070
| KIT | R19H | Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome | Uncertain significance
(Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55524237-55524238
- GRCh38:
- Chr4:54658070-54658071
| KIT | R19L | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor | Uncertain significance
(Jun 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55524238
- GRCh38:
- Chr4:54658071
| KIT | | Gastrointestinal stromal tumor | Likely benign
(Aug 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524238
- GRCh38:
- Chr4:54658071
| KIT | | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor | Likely benign
(Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55524239
- GRCh38:
- Chr4:54658072
| KIT | V20I | Gastrointestinal stromal tumor | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524239
- GRCh38:
- Chr4:54658072
| KIT | V20F | Gastrointestinal stromal tumor | Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524240
- GRCh38:
- Chr4:54658073
| KIT | V20G | Hereditary cancer-predisposing syndrome, not provided | Uncertain significance
(Jun 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55524242
- GRCh38:
- Chr4:54658075
| KIT | Q21K | Hereditary cancer-predisposing syndrome | Uncertain significance
(May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524243
- GRCh38:
- Chr4:54658076
| KIT | Q21R | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor | Uncertain significance
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55524244
- GRCh38:
- Chr4:54658077
| KIT | | Gastrointestinal stromal tumor | Likely benign
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524246
- GRCh38:
- Chr4:54658079
| KIT | T22I | Gastrointestinal stromal tumor | Uncertain significance
(Sep 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524249-55524250
- GRCh38:
- Chr4:54658082-54658083
| KIT | | Gastrointestinal stromal tumor | Likely benign
(Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524251
- GRCh38:
- Chr4:54658084
| KIT | | Gastrointestinal stromal tumor | Uncertain significance
(Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524252
- GRCh38:
- Chr4:54658085
| KIT | | Hereditary cancer-predisposing syndrome, not provided, Partial albinism,
Gastrointestinal stromal tumor, not specified | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55524253
- GRCh38:
- Chr4:54658086
| KIT | | Gastrointestinal stromal tumor | Uncertain significance
(Sep 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524254
- GRCh38:
- Chr4:54658087
| KIT | | Gastrointestinal stromal tumor | Uncertain significance
(May 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524255
- GRCh38:
- Chr4:54658088
| KIT | | Gastrointestinal stromal tumor, not provided | Likely benign
(Aug 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524256
- GRCh38:
- Chr4:54658089
| KIT | | Gastrointestinal stromal tumor | Likely benign
(Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524257
- GRCh38:
- Chr4:54658090
| KIT | | Gastrointestinal stromal tumor | Likely benign
(Jun 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524257
- GRCh38:
- Chr4:54658090
| KIT | | not provided, Gastrointestinal stromal tumor | Likely benign
(May 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524257
- GRCh38:
- Chr4:54658090
| KIT | | not provided, Gastrointestinal stromal tumor | Likely benign
(Apr 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524258
- GRCh38:
- Chr4:54658091
| KIT | | Gastrointestinal stromal tumor | Likely benign
(Jan 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524259
- GRCh38:
- Chr4:54658092
| KIT | | Gastrointestinal stromal tumor | Likely benign
(Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524260
- GRCh38:
- Chr4:54658093
| KIT | | Partial albinism, Mastocytosis, Gastrointestinal stromal tumor
| Conflicting interpretations of pathogenicity
(Oct 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:55524261
- GRCh38:
- Chr4:54658094
| KIT | | Gastrointestinal stromal tumor | Likely benign
(Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524263
- GRCh38:
- Chr4:54658096
| KIT | | Gastrointestinal stromal tumor | Likely benign
(Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524267
- GRCh38:
- Chr4:54658100
| KIT | | Gastrointestinal stromal tumor | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524304
- GRCh38:
- Chr4:54658137
| KIT | | not provided | Benign
(Jun 22, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524338
- GRCh38:
- Chr4:54658171
| KIT | | not provided | Benign
(Jun 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524464
- GRCh38:
- Chr4:54658297
| KIT | | not provided | Benign
(Jun 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55524533
- GRCh38:
- Chr4:54658366
| KIT | | not provided | Benign
(Jan 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55561548
- GRCh38:
- Chr4:54695382
| KIT | | not provided | Benign
(Jun 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55561656-55561658
- GRCh38:
- Chr4:54695490-54695492
| KIT | | Gastrointestinal stromal tumor | Likely benign
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55561658
- GRCh38:
- Chr4:54695492
| KIT | | Gastrointestinal stromal tumor | Likely benign
(Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55561658
- GRCh38:
- Chr4:54695492
| KIT | | Gastrointestinal stromal tumor | Likely benign
(Oct 16, 2022) | criteria provided, single submitter |