29899[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1460071.	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1 GRCh37: Chr1:97737905-109435760 GRCh38: Chr1:97272349-108893138	AGL, AKNAD1, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, CDC14A, COL11A1, DBT, DPH5, DPH5-DT, DPYD, DPYD-AS1, DPYD-AS2, EEIG2, EXTL2, FNDC7, FRRS1, GPR88, GPSM2, HENMT1, LINC01307, LINC01349, LINC01661, LINC01676, LINC01677, LINC01708, LINC01709, LINC01776, LINC01930, LOC107457601, LOC111556158, LOC112577470, LOC115801437, LOC120893148, LOC120893149, LOC120893150, LOC122094881, LOC122094882, LOC122094883, LOC122094884, LOC122094885, LOC122094886, LOC122094887, LOC122094888, LOC122094889, LOC122094890, LOC122094891, LOC126805802, LOC126805803, LOC126805804, LOC126805805, LOC126805806, LOC126805807, LOC126805808, LOC126805809, LOC126805810, LOC126805811, LOC126805812, LOC126805813, LOC126805814, LOC126805815, LOC126805816, LOC126805817, LOC126805818, LOC126805819, LRRC39, MFSD14A, MIR137, MIR137HG, MIR2682, MIR553, MIR7852, NBPF4, NBPF6, NTNG1, OLFM3, PALMD, PLPPR4, PLPPR5, PLPPR5-AS1, PRMT6, PRPF38B, RNPC3, RNPC3-DT, RTCA, RTCA-AS1, S1PR1, S1PR1-DT, SASS6, SLC25A24, SLC30A7, SLC35A3, SNX7, SPATA42, STXBP3, TRMT13, VAV3, VAV3-AS1, VCAM1		See cases	Pathogenic (Nov 30, 2010)	no assertion criteria provided
Select item 600052.	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1 GRCh37: Chr1:97876158-111213132 GRCh38: Chr1:97410602-110670510	AGL, AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, ATXN7L2, CDC14A, CELSR2, CFAP276, CLCC1, COL11A1, CSF1, CYB561D1, CYMP-AS1, DBT, DPH5, DPH5-DT, DPYD, DPYD-AS2, EEIG2, ELAPOR1, EPS8L3, EXTL2, FNDC7, FRRS1, GNAI3, GNAT2, GPR61, GPR88, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, KCNA10, KCNA2, KCNA3, KCNC4, KCNC4-DT, LAMTOR5, LAMTOR5-AS1, LINC01307, LINC01349, LINC01397, LINC01661, LINC01676, LINC01677, LINC01708, LINC01709, LINC01776, LINC01930, LOC107457601, LOC110121283, LOC110121285, LOC111556158, LOC112577470, LOC112577471, LOC112577473, LOC112577475, LOC115801437, LOC115801438, LOC120893148, LOC120893149, LOC120893150, LOC120893151, LOC120893152, LOC121725043, LOC121725044, LOC122094881, LOC122094882, LOC122094883, LOC122094884, LOC122094885, LOC122094886, LOC122094887, LOC122094888, LOC122094889, LOC122094890, LOC122094891, LOC122094892, LOC122094893, LOC122094894, LOC122094895, LOC122094896, LOC126805802, LOC126805803, LOC126805804, LOC126805805, LOC126805806, LOC126805807, LOC126805808, LOC126805809, LOC126805810, LOC126805811, LOC126805812, LOC126805813, LOC126805814, LOC126805815, LOC126805816, LOC126805817, LOC126805818, LOC126805819, LOC126805820, LOC126805821, LOC126805822, LOC126805823, LOC126805824, LRRC39, MFSD14A, MIR137, MIR137HG, MIR197, MIR2682, MIR553, MIR7852, MYBPHL, NBPF4, NBPF6, NTNG1, OLFM3, PALMD, PLPPR4, PLPPR5, PLPPR5-AS1, PRMT6, PROK1, PRPF38B, PSMA5, PSRC1, RBM15, RBM15-AS1, RNPC3, RNPC3-DT, RTCA, RTCA-AS1, S1PR1, S1PR1-DT, SARS1, SASS6, SCARNA2, SLC16A4, SLC25A24, SLC30A7, SLC35A3, SLC6A17, SLC6A17-AS1, SNX7, SORT1, SPATA42, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, TRMT13, UBL4B, VAV3, VAV3-AS1, VCAM1, WDR47		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 600073.	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1 GRCh37: Chr1:102083653-112245650 GRCh38: Chr1:101618097-111703028	SARS1, SCARNA2, SLC16A4, SLC25A24, SLC6A17, SLC6A17-AS1, SORT1, SPATA42, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, TMIGD3, UBL4B, VAV3, VAV3-AS1, WDR47, WDR77, ADORA3, AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, ATP5PB, ATXN7L2, C1orf162, CD53, CELSR2, CEPT1, CFAP276, CHI3L2, CHIA, CLCC1, COL11A1, CSF1, CYB561D1, CYMP-AS1, DENND2D, DRAM2, EEIG2, ELAPOR1, EPS8L3, FNDC7, GNAI3, GNAT2, GPR61, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, KCNA10, KCNA2, KCNA3, KCNC4, KCNC4-DT, LAMTOR5, LAMTOR5-AS1, LINC01160, LINC01397, LINC01661, LINC01676, LINC01677, LINC01709, LOC107457601, LOC107985184, LOC110121283, LOC110121285, LOC112577470, LOC112577471, LOC112577473, LOC112577475, LOC112577476, LOC115801437, LOC115801438, LOC120893149, LOC120893150, LOC120893151, LOC120893152, LOC121725043, LOC121725044, LOC122094891, LOC122094892, LOC122094893, LOC122094894, LOC122094895, LOC122094896, LOC122094897, LOC126805812, LOC126805813, LOC126805814, LOC126805815, LOC126805816, LOC126805817, LOC126805818, LOC126805819, LOC126805820, LOC126805821, LOC126805822, LOC126805823, LOC126805824, LOC126805825, LOC126805826, LOC126805827, LOC126805828, LOC126805829, LRIF1, MIR197, MIR7852, MYBPHL, NBPF4, NBPF6, NTNG1, OLFM3, OVGP1, PIFO, PRMT6, PROK1, PRPF38B, PSMA5, PSRC1, RAP1A, RBM15, RBM15-AS1, RNPC3, RNPC3-DT		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5451384.	NC_000001.11:g.(?_103175204)_(111410059_?)del GRCh38: Chr1:103175204-111410059	CSF1, CYB561D1, CYMP-AS1, NBPF4, NBPF6, DENND2D, NTNG1, PIFO, PRMT6, SCARNA2, SLC16A4, SORT1, PROK1, PRPF38B, PSRC1, RBM15, RBM15-AS1, SLC25A24, SLC6A17, SLC6A17-AS1, PSMA5, RNPC3, GNAT2, GPR61, FNDC7, GNAI3, DRAM2, EEIG2, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, RNPC3-DT, SARS1, GSTM5, HENMT1, ELAPOR1, EPS8L3, AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, ATXN7L2, CD53, CELSR2, CEPT1, CFAP276, CHI3L2, CHIA, CLCC1, KCNA10, KCNA2, KCNA3, KCNC4, KCNC4-DT, LAMTOR5, LAMTOR5-AS1, LINC01397, LINC01661, LINC01676, LINC01677, LOC110121283, LOC110121285, LOC112577470, LOC112577471, LOC112577473, LOC112577475, LOC115801437, LOC115801438, LOC120893149, LOC120893150, LOC120893151, LOC120893152, LOC121725043, LOC121725044, LOC122094891, LOC122094892, LOC122094893, LOC122094894, LOC122094895, LOC122094896, LOC122094897, LOC126805815, LOC126805816, LOC126805817, LOC126805818, LOC126805819, LOC126805820, LOC126805821, LOC126805822, LOC126805823, LOC126805824, LOC126805825, LOC126805826, LOC126805827, LOC126805828, LOC126805829, LRIF1, MIR197, MIR7852, MYBPHL, SPATA42, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, UBL4B, VAV3, VAV3-AS1, WDR47		Autism	Likely pathogenic (Mar 20, 2018)	criteria provided, single submitter
Select item 1548865.	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 GRCh37: Chr1:104868106-120471049 GRCh38: Chr1:104325484-119977655	ADAM30, ADORA3, AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD1, AMPD2, AP4B1, AP4B1-AS1, ATP1A1, ATP1A1-AS1, ATP5PB, ATXN7L2, BCAS2, BCL2L15, C1orf162, CAPZA1, CASQ2, CD101, CD101-AS1, CD2, CD2-LCR, CD53, CD58, CELSR2, CEPT1, CFAP276, CHI3L2, CHIA, CIMAP3, CLCC1, CSDE1, CSF1, CTTNBP2NL, CYB561D1, CYMP-AS1, DCLRE1B, DDX20, DENND2C, DENND2D, DRAM2, EEIG2, ELAPOR1, EPS8L3, FNDC7, GDAP2, GNAI3, GNAT2, GPR61, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HAO2, HAO2-IT1, HENMT1, HIPK1, HIPK1-AS1, HMGCS2, HSD3B1, HSD3B2, IGSF3, INKA2, INKA2-AS1, KCNA10, KCNA2, KCNA3, KCNC4, KCNC4-DT, KCND3, KCND3-AS1, KCND3-IT1, LAMTOR5, LAMTOR5-AS1, LINC00622, LINC01160, LINC01356, LINC01357, LINC01397, LINC01525, LINC01649, LINC01661, LINC01676, LINC01677, LINC01750, LINC01762, LINC01779, LINC01780, LINC02868, LINC02884, LOC101928718, LOC101928977, LOC105378933, LOC107161156, LOC107985184, LOC109029529, LOC109029530, LOC110121098, LOC110121184, LOC110121283, LOC110121285, LOC111365211, LOC111413047, LOC111721703, LOC111776218, LOC112577470, LOC112577471, LOC112577473, LOC112577475, LOC112577476, LOC112577477, LOC112577478, LOC112577479, LOC112577480, LOC112577481, LOC112577483, LOC112577484, LOC112577485, LOC113939977, LOC113939978, LOC115801437, LOC115801438, LOC115801439, LOC115801440, LOC115801441, LOC120893149, LOC120893150, LOC120893151, LOC120893152, LOC120893153, LOC120893154, LOC120893155, LOC120893156, LOC120893157, LOC121725043, LOC121725044, LOC121725045, LOC121725046, LOC121725047, LOC121725048, LOC121725049, LOC121725050, LOC122094891, LOC122094892, LOC122094893, LOC122094894, LOC122094895, LOC122094896, LOC122094897, LOC122094898, LOC122094899, LOC122094900, LOC122094901, LOC122094902, LOC122094903, LOC122094904, LOC122094905, LOC122094906, LOC122094907, LOC122094908, LOC122094909, LOC122094910, LOC122094911, LOC126805815, LOC126805816, LOC126805817, LOC126805818, LOC126805819, LOC126805820, LOC126805821, LOC126805822, LOC126805823, LOC126805824, LOC126805825, LOC126805826, LOC126805827, LOC126805828, LOC126805829, LOC126805830, LOC126805831, LOC126805832, LOC126805833, LOC126805834, LOC126805835, LOC126805836, LOC126805837, LOC126805838, LOC126805839, LOC126805840, LOC126805841, LOC126805842, LOC126805843, LOC126805844, LOC126805845, LOC126805846, LOC126805847, LOC126805848, LOC643441, LRIF1, LRIG2, LRIG2-DT, MAB21L3, MAGI3, MAN1A2, MIR11399, MIR197, MIR320B1, MIR4256, MIR548AC, MIR7852, MIR942, MOV10, MYBPHL, NBPF4, NBPF6, NGF, NGF-AS1, NHLH2, NOTCH2, NRAS, NTNG1, OLFML3, OVGP1, PHGDH, PHTF1, PPM1J, PPM1J-DT, PRMT6, PROK1, PRPF38B, PSMA5, PSRC1, PTGFRN, PTPN22, RAP1A, RBM15, RBM15-AS1, REG4, RHOC, RSBN1, SARS1, SCARNA2, SIKE1, SLC16A1, SLC16A1-AS1, SLC16A4, SLC22A15, SLC25A24, SLC6A17, SLC6A17-AS1, SORT1, SPAG17, SPATA42, ST7L, STRIP1, STXBP3, SYCP1, SYPL2, SYT6, TAF13, TAFA3, TBX15, TENT5C, TENT5C-DT, TMEM167B, TMIGD3, TRIM33, TRIM45, TSHB, TSPAN2, TTF2, UBL4B, VANGL1, VAV3, VAV3-AS1, VTCN1, WARS2, WARS2-AS1, WARS2-IT1, WDR3, WDR47, WDR77, WNT2B, ZNF697		See cases	Pathogenic (Aug 13, 2012)	no assertion criteria provided
Select item 1546936.	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1 GRCh37: Chr1:106010914-112733248 GRCh38: Chr1:105468292-112190626	ADORA3, AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, ATP5PB, ATXN7L2, C1orf162, CD53, CELSR2, CEPT1, CFAP276, CHI3L2, CHIA, CLCC1, CSF1, CYB561D1, CYMP-AS1, DDX20, DENND2D, DRAM2, EEIG2, ELAPOR1, EPS8L3, FNDC7, GNAI3, GNAT2, GPR61, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, INKA2, INKA2-AS1, KCNA10, KCNA2, KCNA3, KCNC4, KCNC4-DT, KCND3, KCND3-AS1, KCND3-IT1, LAMTOR5, LAMTOR5-AS1, LINC01160, LINC01397, LINC01661, LINC01676, LINC01677, LINC01750, LOC101928718, LOC107985184, LOC110121283, LOC110121285, LOC112577470, LOC112577471, LOC112577473, LOC112577475, LOC112577476, LOC115801437, LOC115801438, LOC120893149, LOC120893150, LOC120893151, LOC120893152, LOC121725043, LOC121725044, LOC122094891, LOC122094892, LOC122094893, LOC122094894, LOC122094895, LOC122094896, LOC122094897, LOC126805817, LOC126805818, LOC126805819, LOC126805820, LOC126805821, LOC126805822, LOC126805823, LOC126805824, LOC126805825, LOC126805826, LOC126805827, LOC126805828, LOC126805829, LRIF1, MIR197, MIR7852, MYBPHL, NBPF4, NBPF6, NTNG1, OVGP1, PIFO, PRMT6, PROK1, PRPF38B, PSMA5, PSRC1, RAP1A, RBM15, RBM15-AS1, SARS1, SCARNA2, SLC16A4, SLC25A24, SLC6A17, SLC6A17-AS1, SORT1, SPATA42, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, TMIGD3, UBL4B, VAV3, VAV3-AS1, WDR47, WDR77		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 600097.	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1 GRCh37: Chr1:106617209-110686912 GRCh38: Chr1:106074587-110144290	AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, ATXN7L2, CELSR2, CFAP276, CLCC1, CSF1, CYB561D1, EEIG2, ELAPOR1, EPS8L3, FNDC7, GNAI3, GNAT2, GPR61, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, LINC01397, LINC01661, LOC110121283, LOC110121285, LOC112577470, LOC112577471, LOC112577473, LOC115801437, LOC115801438, LOC120893149, LOC120893150, LOC120893151, LOC120893152, LOC121725043, LOC122094891, LOC122094892, LOC122094893, LOC122094894, LOC122094895, LOC126805818, LOC126805819, LOC126805820, LOC126805821, LOC126805822, LOC126805823, LOC126805824, MIR197, MIR7852, MYBPHL, NBPF4, NBPF6, NTNG1, PRMT6, PRPF38B, PSMA5, PSRC1, SARS1, SCARNA2, SLC25A24, SORT1, SPATA42, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, UBL4B, VAV3, VAV3-AS1, WDR47		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1468978.	GRCh38/hg38 1p13.3(chr1:108807502-109134584)x3 GRCh37: Chr1:109350124-109677206 GRCh38: Chr1:108807502-109134584	AKNAD1, CFAP276, CLCC1, ELAPOR1, GPSM2, LOC122094891, LOC122094892, SCARNA2, SPATA42, STXBP3, TAF13, TMEM167B, WDR47		See cases	Uncertain significance (Jan 30, 2010)	no assertion criteria provided
Select item 2916899.	NM_013296.5(GPSM2):c.-486G>C GRCh37: Chr1:109419613 GRCh38: Chr1:108876991	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29169010.	NM_013296.5(GPSM2):c.-469C>G GRCh37: Chr1:109419630 GRCh38: Chr1:108877008	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87650311.	NM_013296.5(GPSM2):c.-453C>T GRCh37: Chr1:109419646 GRCh38: Chr1:108877024	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29169112.	NM_013296.5(GPSM2):c.-441G>C GRCh37: Chr1:109419658 GRCh38: Chr1:108877036	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29169213.	NM_013296.5(GPSM2):c.-429C>T GRCh37: Chr1:109419670 GRCh38: Chr1:108877048	GPSM2		Chudley-McCullough syndrome	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 29169314.	NM_013296.5(GPSM2):c.-426G>A GRCh37: Chr1:109419673 GRCh38: Chr1:108877051	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29169415.	NM_013296.5(GPSM2):c.-397C>G GRCh37: Chr1:109419702 GRCh38: Chr1:108877080	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29169516.	NM_013296.5(GPSM2):c.-369G>A GRCh37: Chr1:109419730 GRCh38: Chr1:108877108	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29169617.	NM_013296.5(GPSM2):c.-357C>T GRCh37: Chr1:109419742 GRCh38: Chr1:108877120	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87360718.	NM_013296.5(GPSM2):c.-316C>T GRCh37: Chr1:109419783 GRCh38: Chr1:108877161	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 29169719.	NM_013296.5(GPSM2):c.-306C>A GRCh37: Chr1:109419793 GRCh38: Chr1:108877171	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87360820.	NM_013296.5(GPSM2):c.-288C>A GRCh37: Chr1:109419811 GRCh38: Chr1:108877189	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 29169821.	NM_013296.5(GPSM2):c.-258C>T GRCh37: Chr1:109419841 GRCh38: Chr1:108877219	GPSM2		Chudley-McCullough syndrome, not specified	Benign/Likely benign (Feb 11, 2020)	criteria provided, multiple submitters, no conflicts
Select item 117552222.	NM_013296.5(GPSM2):c.-248-179C>G GRCh37: Chr1:109427718 GRCh38: Chr1:108885096	GPSM2		not provided	Likely benign (Aug 17, 2018)	criteria provided, single submitter
Select item 38292223.	NM_013296.5(GPSM2):c.-248-16T>C GRCh37: Chr1:109427881 GRCh38: Chr1:108885259	GPSM2		not specified	Likely benign (Feb 4, 2016)	criteria provided, single submitter
Select item 63207724.	NM_013296.5(GPSM2):c.-248-1G>A GRCh37: Chr1:109427896 GRCh38: Chr1:108885274	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Aug 22, 2018)	criteria provided, single submitter
Select item 29169925.	NM_013296.5(GPSM2):c.-245T>A GRCh37: Chr1:109427900 GRCh38: Chr1:108885278	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 17923326.	NM_013296.5(GPSM2):c.-2C>T GRCh37: Chr1:109428143 GRCh38: Chr1:108885521	GPSM2		not specified	Uncertain significance (Sep 3, 2013)	criteria provided, single submitter
Select item 130898327.	NM_013296.5(GPSM2):c.23T>C (p.Met8Thr) GRCh37: Chr1:109428167 GRCh38: Chr1:108885545	GPSM2	M8T	not provided	Uncertain significance (Sep 30, 2019)	criteria provided, single submitter
Select item 250728028.	NM_013296.5(GPSM2):c.36T>C (p.His12=) GRCh37: Chr1:109428180 GRCh38: Chr1:108885558	GPSM2		not provided	Uncertain significance (Dec 28, 2022)	criteria provided, single submitter
Select item 140214629.	NM_013296.5(GPSM2):c.50G>A (p.Arg17His) GRCh37: Chr1:109428194 GRCh38: Chr1:108885572	GPSM2	R17H	not provided	Uncertain significance (Sep 18, 2021)	criteria provided, single submitter
Select item 126929830.	NM_013296.5(GPSM2):c.56+49G>A GRCh37: Chr1:109428249 GRCh38: Chr1:108885627	GPSM2		not provided	Benign (Jun 24, 2018)	criteria provided, single submitter
Select item 126507331.	NM_013296.5(GPSM2):c.56+145dup GRCh37: Chr1:109428344-109428345 GRCh38: Chr1:108885722-108885723	GPSM2		not provided	Benign (Mar 29, 2019)	criteria provided, single submitter
Select item 118941532.	NM_013296.5(GPSM2):c.56+155T>C GRCh37: Chr1:109428355 GRCh38: Chr1:108885733	GPSM2		not provided	Likely benign (Oct 28, 2018)	criteria provided, single submitter
Select item 123039933.	NM_013296.5(GPSM2):c.57-124C>T GRCh37: Chr1:109439362 GRCh38: Chr1:108896740	GPSM2		not provided	Benign (Jul 15, 2018)	criteria provided, single submitter
Select item 123243834.	NM_013296.5(GPSM2):c.57-86C>T GRCh37: Chr1:109439400 GRCh38: Chr1:108896778	GPSM2		not provided	Benign (Jun 30, 2018)	criteria provided, single submitter
Select item 22873135.	NM_013296.5(GPSM2):c.57-10A>G GRCh37: Chr1:109439476 GRCh38: Chr1:108896854	GPSM2		not specified, not provided	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 4557236.	NM_013296.5(GPSM2):c.87G>A (p.Leu29=) GRCh37: Chr1:109439516 GRCh38: Chr1:108896894	GPSM2		not specified, not provided, Chudley-McCullough syndrome	Benign/Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 193306537.	NM_013296.5(GPSM2):c.121C>T (p.Arg41Cys) GRCh37: Chr1:109439550 GRCh38: Chr1:108896928	GPSM2	R41C	not provided	Uncertain significance (Jan 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 22741438.	NM_013296.5(GPSM2):c.123C>T (p.Arg41=) GRCh37: Chr1:109439552 GRCh38: Chr1:108896930	GPSM2		not specified	Likely benign (Oct 26, 2015)	criteria provided, single submitter
Select item 58756839.	NM_013296.5(GPSM2):c.124G>A (p.Ala42Thr) GRCh37: Chr1:109439553 GRCh38: Chr1:108896931	GPSM2	A42T	Chudley-McCullough syndrome	Uncertain significance (Aug 7, 2018)	criteria provided, single submitter
Select item 130815140.	NM_013296.5(GPSM2):c.129C>T (p.Gly43=) GRCh37: Chr1:109439558 GRCh38: Chr1:108896936	GPSM2		not provided	Uncertain significance (Aug 26, 2019)	criteria provided, single submitter
Select item 254047341.	NM_013296.5(GPSM2):c.130G>C (p.Val44Leu) GRCh37: Chr1:109439559 GRCh38: Chr1:108896937	GPSM2	V44L	Inborn genetic diseases	Uncertain significance (Apr 25, 2023)	criteria provided, single submitter
Select item 56089042.	NM_013296.5(GPSM2):c.138C>A (p.Phe46Leu) GRCh37: Chr1:109439567 GRCh38: Chr1:108896945	GPSM2	F46L	Hearing loss, autosomal recessive, Deafness	Pathogenic/Likely pathogenic (Sep 10, 2018)	no assertion criteria provided
Select item 39174743.	NM_013296.5(GPSM2):c.172C>T (p.Leu58=) GRCh37: Chr1:109439601 GRCh38: Chr1:108896979	GPSM2		not specified	Likely benign (Dec 15, 2016)	criteria provided, single submitter
Select item 17945344.	NM_013296.5(GPSM2):c.186C>T (p.Ser62=) GRCh37: Chr1:109439615 GRCh38: Chr1:108896993	GPSM2		not specified, not provided, Chudley-McCullough syndrome	Conflicting interpretations of pathogenicity (Dec 28, 2021)	criteria provided, conflicting interpretations
Select item 249992845.	NM_013296.5(GPSM2):c.238A>G (p.Lys80Glu) GRCh37: Chr1:109439667 GRCh38: Chr1:108897045	GPSM2	K80E	not provided	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 17894146.	NM_013296.5(GPSM2):c.249A>G (p.Glu83=) GRCh37: Chr1:109439678 GRCh38: Chr1:108897056	GPSM2		not provided, not specified	Likely benign (Sep 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 193721447.	NM_013296.5(GPSM2):c.257A>G (p.His86Arg) GRCh37: Chr1:109439686 GRCh38: Chr1:108897064	GPSM2	H86R	not provided	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 87460848.	NM_013296.5(GPSM2):c.274G>A (p.Ala92Thr) GRCh37: Chr1:109439703 GRCh38: Chr1:108897081	GPSM2	A92T	Chudley-McCullough syndrome, not specified	Uncertain significance (Jan 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 29170049.	NM_013296.5(GPSM2):c.278G>A (p.Arg93Lys) GRCh37: Chr1:109439707 GRCh38: Chr1:108897085	GPSM2	R93K	Chudley-McCullough syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 4556750.	NM_013296.5(GPSM2):c.278+5T>C GRCh37: Chr1:109439712 GRCh38: Chr1:108897090	GPSM2		not provided, not specified, Chudley-McCullough syndrome	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87460951.	NM_013296.5(GPSM2):c.279-6T>C GRCh37: Chr1:109440108 GRCh38: Chr1:108897486	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 169717552.	NM_013296.5(GPSM2):c.286G>A (p.Gly96Arg) GRCh37: Chr1:109440121 GRCh38: Chr1:108897499	GPSM2	G96R	not provided	Uncertain significance (Jan 14, 2022)	criteria provided, single submitter
Select item 209496953.	NM_013296.5(GPSM2):c.319A>G (p.Asn107Asp) GRCh37: Chr1:109440154 GRCh38: Chr1:108897532	GPSM2	N107D	not provided	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 143127554.	NM_013296.5(GPSM2):c.358G>A (p.Glu120Lys) GRCh37: Chr1:109440193 GRCh38: Chr1:108897571	GPSM2	E120K	not provided, Chudley-McCullough syndrome	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80617955.	NM_013296.5(GPSM2):c.361G>C (p.Ala121Pro) GRCh37: Chr1:109440196 GRCh38: Chr1:108897574	GPSM2	A121P	not provided	Uncertain significance (Feb 1, 2019)	criteria provided, single submitter
Select item 182356.	NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter) GRCh37: Chr1:109440214 GRCh38: Chr1:108897592	GPSM2	R127*	Chudley-McCullough syndrome	Pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 4556857.	NM_013296.5(GPSM2):c.380G>A (p.Arg127Gln) GRCh37: Chr1:109440215 GRCh38: Chr1:108897593	GPSM2	R127Q	not specified, not provided, Chudley-McCullough syndrome	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131305458.	NM_013296.5(GPSM2):c.414+4A>G GRCh37: Chr1:109440253 GRCh38: Chr1:108897631	GPSM2		not provided	Uncertain significance (Jul 8, 2020)	criteria provided, single submitter
Select item 51302659.	NM_013296.5(GPSM2):c.414+8C>T GRCh37: Chr1:109440257 GRCh38: Chr1:108897635	GPSM2		not specified	Likely benign (Nov 2, 2017)	criteria provided, single submitter
Select item 74033760.	NM_013296.5(GPSM2):c.414+9G>A GRCh37: Chr1:109440258 GRCh38: Chr1:108897636	GPSM2		not provided	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 252877561.	NM_013296.5(GPSM2):c.424G>A (p.Ala142Thr) GRCh37: Chr1:109440590 GRCh38: Chr1:108897968	GPSM2	A142T	Inborn genetic diseases	Uncertain significance (Mar 23, 2023)	criteria provided, single submitter
Select item 195556362.	NM_013296.5(GPSM2):c.438C>T (p.Tyr146=) GRCh37: Chr1:109440604 GRCh38: Chr1:108897982	GPSM2		not provided	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 156492363.	NM_013296.5(GPSM2):c.459T>C (p.His153=) GRCh37: Chr1:109440625 GRCh38: Chr1:108898003	GPSM2		not provided	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 18003464.	NM_013296.5(GPSM2):c.459_460del (p.Ala154fs) GRCh37: Chr1:109440625-109440626 GRCh38: Chr1:108898003-108898004	GPSM2	A154fs	Rare genetic deafness	Likely pathogenic (May 9, 2019)	criteria provided, single submitter
Select item 61814665.	NM_013296.5(GPSM2):c.478G>C (p.Gly160Arg) GRCh37: Chr1:109440644 GRCh38: Chr1:108898022	GPSM2	G160R	Chudley-McCullough syndrome	Uncertain significance (Dec 5, 2018)	criteria provided, single submitter
Select item 50005966.	NM_013296.5(GPSM2):c.485del (p.Pro162fs) GRCh37: Chr1:109440649 GRCh38: Chr1:108898027	GPSM2	P162fs	Inborn genetic diseases, not provided	Pathogenic (Jun 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 72962667.	NM_013296.5(GPSM2):c.505G>A (p.Glu169Lys) GRCh37: Chr1:109440671 GRCh38: Chr1:108898049	GPSM2	E169K	not provided	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 42434368.	NM_013296.5(GPSM2):c.515AAG[1] (p.Glu173del) GRCh37: Chr1:109440679-109440681 GRCh38: Chr1:108898057-108898059	GPSM2	E173del	not provided, Inborn genetic diseases, not specified	Conflicting interpretations of pathogenicity (May 18, 2023)	criteria provided, conflicting interpretations
Select item 4556969.	NM_013296.5(GPSM2):c.529G>A (p.Ala177Thr) GRCh37: Chr1:109440695 GRCh38: Chr1:108898073	GPSM2	A177T	not specified, Chudley-McCullough syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 106824870.	NM_013296.5(GPSM2):c.557+2T>C GRCh37: Chr1:109440725 GRCh38: Chr1:108898103	GPSM2		not provided	Likely pathogenic (Mar 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102505371.	NM_013296.5(GPSM2):c.557+3G>C GRCh37: Chr1:109440726 GRCh38: Chr1:108898104	GPSM2		not provided	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 26028172.	NM_013296.5(GPSM2):c.557+17A>G GRCh37: Chr1:109440740 GRCh38: Chr1:108898118	GPSM2		not provided, not specified	Benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 51071573.	NM_013296.5(GPSM2):c.558-11C>T GRCh37: Chr1:109441253 GRCh38: Chr1:108898631	GPSM2		not provided	Likely benign (Jan 2, 2020)	criteria provided, single submitter
Select item 194767274.	NM_013296.5(GPSM2):c.558-9A>G GRCh37: Chr1:109441255 GRCh38: Chr1:108898633	GPSM2		not provided	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 72951375.	NM_013296.5(GPSM2):c.558-7C>T GRCh37: Chr1:109441257 GRCh38: Chr1:108898635	GPSM2		not provided	Likely benign (Dec 14, 2017)	criteria provided, single submitter
Select item 199803376.	NM_013296.5(GPSM2):c.580G>T (p.Ala194Ser) GRCh37: Chr1:109441286 GRCh38: Chr1:108898664	GPSM2	A194S	Inborn genetic diseases, not provided	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17837577.	NM_013296.5(GPSM2):c.593G>A (p.Arg198Gln) GRCh37: Chr1:109441299 GRCh38: Chr1:108898677	GPSM2	R198Q	not provided, not specified	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28540078.	NM_013296.5(GPSM2):c.596C>T (p.Ala199Val) GRCh37: Chr1:109441302 GRCh38: Chr1:108898680	GPSM2	A199V	not provided	Uncertain significance (Jan 22, 2016)	criteria provided, single submitter
Select item 87553179.	NM_013296.5(GPSM2):c.597G>A (p.Ala199=) GRCh37: Chr1:109441303 GRCh38: Chr1:108898681	GPSM2		Chudley-McCullough syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 132953480.	NM_013296.5(GPSM2):c.605G>A (p.Gly202Glu) GRCh37: Chr1:109441311 GRCh38: Chr1:108898689	GPSM2	G202E	not provided	Uncertain significance (Jun 24, 2021)	criteria provided, single submitter
Select item 257810081.	NM_013296.5(GPSM2):c.622C>T (p.Leu208Phe) GRCh37: Chr1:109441328 GRCh38: Chr1:108898706	GPSM2	L208F	not provided	Uncertain significance (Mar 3, 2023)	criteria provided, single submitter
Select item 51715582.	NM_013296.5(GPSM2):c.624T>C (p.Leu208=) GRCh37: Chr1:109441330 GRCh38: Chr1:108898708	GPSM2		not specified	Likely benign (Nov 30, 2016)	criteria provided, single submitter
Select item 163104783.	NM_013296.5(GPSM2):c.636T>C (p.His212=) GRCh37: Chr1:109441342 GRCh38: Chr1:108898720	GPSM2		not provided	Likely benign (Oct 29, 2021)	criteria provided, single submitter
Select item 131446384.	NM_013296.5(GPSM2):c.668T>C (p.Ile223Thr) GRCh37: Chr1:109441374 GRCh38: Chr1:108898752	GPSM2	I223T	not provided	Uncertain significance (Jan 28, 2020)	criteria provided, single submitter
Select item 247989985.	NM_013296.5(GPSM2):c.674A>C (p.His225Pro) GRCh37: Chr1:109441380 GRCh38: Chr1:108898758	GPSM2	H225P	Inborn genetic diseases	Uncertain significance (Jan 26, 2023)	criteria provided, single submitter
Select item 29170186.	NM_013296.5(GPSM2):c.683G>A (p.Arg228His) GRCh37: Chr1:109441502 GRCh38: Chr1:108898880	GPSM2	R228H	not provided, Chudley-McCullough syndrome	Uncertain significance (Feb 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157873887.	NM_013296.5(GPSM2):c.690T>G (p.Leu230=) GRCh37: Chr1:109441509 GRCh38: Chr1:108898887	GPSM2		not provided	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 78077388.	NM_013296.5(GPSM2):c.697A>G (p.Lys233Glu) GRCh37: Chr1:109441516 GRCh38: Chr1:108898894	GPSM2	K233E	not provided	Likely benign (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134206389.	NM_013296.5(GPSM2):c.731C>T (p.Ala244Val) GRCh37: Chr1:109441550 GRCh38: Chr1:108898928	GPSM2	A244V	not provided	Uncertain significance (Jun 13, 2023)	criteria provided, single submitter
Select item 51739490.	NM_013296.5(GPSM2):c.732A>G (p.Ala244=) GRCh37: Chr1:109441551 GRCh38: Chr1:108898929	GPSM2		not specified	Likely benign (May 18, 2017)	criteria provided, single submitter
Select item 3549291.	NM_013296.5(GPSM2):c.742del (p.Gly249fs) GRCh37: Chr1:109441560 GRCh38: Chr1:108898938	GPSM2	G249fs	GPSM2-Related Disorders, Rare genetic deafness, not provided, Chudley-McCullough syndrome	Pathogenic/Likely pathogenic (Apr 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4557092.	NM_013296.5(GPSM2):c.753A>G (p.Ala251=) GRCh37: Chr1:109441572 GRCh38: Chr1:108898950	GPSM2		not provided, not specified, Chudley-McCullough syndrome	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50542093.	NM_013296.5(GPSM2):c.765T>G (p.Leu255=) GRCh37: Chr1:109441584 GRCh38: Chr1:108898962	GPSM2		not specified	Likely benign (Nov 1, 2016)	criteria provided, single submitter
Select item 195413894.	NM_013296.5(GPSM2):c.797+10A>G GRCh37: Chr1:109441626 GRCh38: Chr1:108899004	GPSM2		not provided	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 123543495.	NM_013296.5(GPSM2):c.798-42A>T GRCh37: Chr1:109444370 GRCh38: Chr1:108901748	GPSM2		not provided	Benign (Jun 24, 2018)	criteria provided, single submitter
Select item 74166296.	NM_013296.5(GPSM2):c.805C>T (p.Leu269=) GRCh37: Chr1:109444419 GRCh38: Chr1:108901797	GPSM2		not provided	Likely benign (Nov 5, 2021)	criteria provided, single submitter
Select item 87553297.	NM_013296.5(GPSM2):c.807A>G (p.Leu269=) GRCh37: Chr1:109444421 GRCh38: Chr1:108901799	GPSM2		Chudley-McCullough syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 66683698.	NM_013296.5(GPSM2):c.818G>A (p.Arg273Gln) GRCh37: Chr1:109444432 GRCh38: Chr1:108901810	GPSM2	R273Q	not provided, not specified	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4557199.	NM_013296.5(GPSM2):c.828A>G (p.Lys276=) GRCh37: Chr1:109444442 GRCh38: Chr1:108901820	GPSM2		not specified, not provided, Chudley-McCullough syndrome	Benign/Likely benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 228729100.	NM_013296.5(GPSM2):c.831C>G (p.Asp277Glu) GRCh37: Chr1:109444445 GRCh38: Chr1:108901823	GPSM2	D277E	not specified	Uncertain significance (Jun 24, 2015)	criteria provided, single submitter

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