PIGV[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1499631.	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 GRCh37: Chr1:24707696-41886350 GRCh38: Chr1:24381206-41401517	PAFAH2, PAQR7, PDIK1L, PEF1, PEF1-AS1, PHACTR4, PHC2, PHC2-AS1, PIGV, POU3F1, PPIE, PPP1R8, PPT1, PSMB2, PTAFR, PTP4A2, PTPRU, PUM1, RAB42, RBBP4, RCAN3, RCAN3AS, RCC1, RHBDL2, RHCE, RHD, RIMS3, RLF, RNF19B, RNU11, RPA2, RPS6KA1, RRAGC, RSPO1, RSRP1, RUNX3, RUNX3-AS1, S100PBP, SCARNA1, SCMH1, SDC3, SELENON, SERINC2, SESN2, SF3A3, SFN, SFPQ, SH3BGRL3, SH3D21, SLC30A2, SLC9A1, SLFNL1, SLFNL1-AS1, SMAP2, SMIM12, SMPDL3B, SNHG12, SNHG3, SNIP1, SNORA16A, SNORA44, SNORA55, SNORA61, SNORA63C, SNORA73A, SNORA73B, SNORD103A, SNORD103B, SNORD103C, SNORD99, SNRNP40, SPOCD1, SRRM1, SRSF4, STK40, STMN1, STPG1, STX12, SYF2, SYNC, SYTL1, TAF12, TAF12-DT, TEKT2, TENT5B, TFAP2E, TFAP2E-AS1, THEMIS2, THRAP3, TINAGL1, TMCO2, TMEM200B, TMEM222, TMEM234, TMEM35B, TMEM39B, TMEM50A, TMEM54, TRAPPC3, TRIM62, TRIM63, TRIT1, TRNAU1AP, TRNP1, TSSK3, TXLNA, UBXN11, UTP11, WASF2, WDTC1, WDTC1-DT, XKR8, YARS1, YRDC, YTHDF2, ZBTB8A, ZBTB8B, ZBTB8OS, ZC3H12A, ZC3H12A-DT, ZCCHC17, ZDHHC18, ZFP69, ZFP69B, ZMPSTE24, ZMYM1, ZMYM4, ZMYM4-AS1, ZMYM6, ZNF362, ZNF593, ZNF593OS, ZNF683, ZNF684, ZPLD2P, ZSCAN20, A3GALT2, ADGRB2, ADPRS, AGO1, AGO3, AGO4, AHDC1, AIRIM, AK2, AKIRIN1, ARID1A, ATP5IF1, AUNIP, AZIN2, BMP8A, BMP8B, BSDC1, C1orf122, C1orf216, C1orf232, C1orf94, CAP1, CATSPER4, CCDC28B, CD164L2, CD52, CDCA8, CEP85, CITED4, CLIC4, CLSPN, CNKSR1, COL16A1, COL8A2, COL9A2, CRYBG2, CSF3R, CSMD2, CSMD2-AS1, CTPS1, DCDC2B, DHDDS, DHDDS-AS1, DLGAP3, DNAJC8, DNALI1, EIF3I, EPB41, EPHA10, EVA1B, EXO5, EXO5-DT, EXTL1, EYA3, FABP3, FAM110D, FAM167B, FAM229A, FAM76A, FCN3, FGR, FHL3, FNDC5, FOXO6, FOXO6-AS1, GJA4, GJA9, GJA9-MYCBP, GJB3, GJB4, GJB5, GMEB1, GNL2, GPATCH3, GPN2, GPR199P, GPR3, GRIK3, HCRTR1, HDAC1, HEYL, HMGB4, HMGN2, HPCA, HPCAL4, IFI6, INPP5B, IQCC, KCNQ4, KDF1, KHDRBS1, KIAA0319L, KIAA0754, KIAA1522, KPNA6, LAPTM5, LCK, LDLRAP1, LIN28A, LINC01226, LINC01343, LINC01648, LINC01685, LINC01756, LINC01778, LINC02574, LOC101928728, LOC101929536, LOC105378663, LOC107988049, LOC108254669, LOC109851610, LOC110120621, LOC110120729, LOC110120958, LOC110120969, LOC110121002, LOC110121088, LOC110121139, LOC110121256, LOC110121289, LOC110594336, LOC111464991, LOC111501765, LOC111828505, LOC112577564, LOC112577570, LOC112577571, LOC112577572, LOC112577573, LOC112577574, LOC112577575, LOC112577576, LOC112577577, LOC112577582, LOC112577583, LOC112577584, LOC112577585, LOC112577586, LOC112577587, LOC112577588, LOC112577589, LOC112577590, LOC112577591, LOC112577594, LOC112577595, LOC112577596, LOC112577597, LOC112577598, LOC112577599, LOC112590790, LOC113939988, LOC114803468, LOC115801417, LOC115801418, LOC115801419, LOC115801420, LOC115801421, LOC115801422, LOC115801423, LOC115801424, LOC115801425, LOC120766157, LOC120893124, LOC120893125, LOC120893126, LOC120893127, LOC120893128, LOC120893129, LOC120893130, LOC120893131, LOC120893132, LOC121725005, LOC121725006, LOC121725007, LOC121725008, LOC121725009, LOC121725010, LOC121725011, LOC121725012, LOC121725013, LOC121725014, LOC121725016, LOC121725017, LOC122056797, LOC122056798, LOC122056799, LOC122056800, LOC122056801, LOC122056802, LOC122056803, LOC122056804, LOC122056805, LOC122056806, LOC122056807, LOC122056808, LOC122056809, LOC122056810, LOC122056811, LOC122056812, LOC122056813, LOC122056814, LOC122056815, LOC122056816, LOC122056817, LOC122056818, LOC122056819, LOC122056820, LOC122056821, LOC122056822, LOC122056823, LOC122056824, LOC122056825, LOC122056826, LOC122056827, LOC122056828, LOC122056829, LOC122056830, LOC122056831, LOC122056832, LOC122056833, LOC122056834, LOC122056835, LOC122056836, LOC122056837, LOC122056838, LOC122056839, LOC122056840, LOC122056841, LOC122056842, LOC122056843, LOC122056844, LOC122056845, LOC122056846, LOC122056847, LOC126805662, LOC126805663, LOC126805664, LOC126805665, LOC126805666, LOC126805667, LOC126805668, LOC126805669, LOC126805670, LOC126805671, LOC126805672, LOC126805673, LOC126805674, LOC126805675, LOC126805676, LOC126805677, LOC126805678, LOC126805679, LOC126805680, LOC126805681, LOC126805682, LOC126805683, LOC126805684, LOC126805685, LOC126805686, LOC126805687, LOC126805688, LOC126805689, LOC126805690, LOC126805691, LOC126805692, LOC126805693, LOC126805694, LOC126805695, LOC126805696, LOC126805697, LOC126805698, LOC126805699, LOC126805700, LOC126805701, LOC126805702, LOC126805703, LOC126805704, LOC126805705, LOC126805706, LOC126805707, LOC126805708, LOC126805709, LOC126805710, LOC126805711, LOC126805712, LOC126805713, LOC126805714, LOC126805715, LOC126805716, LOC126805717, LOC128031832, LOC646471, LSM10, MACF1, MACO1, MAN1C1, MANEAL, MAP3K6, MAP7D1, MARCKSL1, MATN1, MATN1-AS1, MEAF6, MECR, MED18, MFSD2A, MIR1976, MIR30C1, MIR30E, MIR3605, MIR3659, MIR3659HG, MIR3917, MIR4254, MIR4255, MIR4420, MIR4425, MIR552, MIR5581, MIR5585, MIR6731, MIR6732, MRPS15, MTF1, MTFR1L, MYCBP, MYCL, MYCL-AS1, NCDN, NCMAP, NCMAP-DT, NDUFS5, NFYC, NFYC-AS1, NIPAL3, NKAIN1, NR0B2, NT5C1A, NUDC, OPRD1, OSCP1, OXCT2, PABPC4, PABPC4-AS1		See cases	Pathogenic (Jun 1, 2012)	no assertion criteria provided
Select item 3688732.	NM_017837.3(PIGV):c.-370G>A GRCh37: Chr1:27114447 GRCh38: Chr1:26787956	PIGV		Hyperphosphatasia-intellectual disability syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 2971103.	NM_017837.4(PIGV):c.-338A>C GRCh37: Chr1:27114479 GRCh38: Chr1:26787988	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 2971114.	NM_017837.4(PIGV):c.-333C>T GRCh37: Chr1:27114484 GRCh38: Chr1:26787993	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 2971125.	NM_017837.4(PIGV):c.-323C>T GRCh37: Chr1:27114494 GRCh38: Chr1:26788003	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8765776.	NM_017837.4(PIGV):c.-184G>T GRCh37: Chr1:27114633 GRCh38: Chr1:26788142	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8765787.	NM_017837.4(PIGV):c.-166G>A GRCh37: Chr1:27114651 GRCh38: Chr1:26788160	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8737208.	NM_017837.4(PIGV):c.-68G>A GRCh37: Chr1:27114749 GRCh38: Chr1:26788258	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 6821869.	NM_017837.4(PIGV):c.-62C>T GRCh37: Chr1:27114755 GRCh38: Chr1:26788264	PIGV		not provided	Likely benign (Apr 18, 2018)	criteria provided, single submitter
Select item 121451110.	NM_017837.4(PIGV):c.-58+430G>A GRCh37: Chr1:27115189 GRCh38: Chr1:26788698	PIGV		not provided	Likely benign (May 9, 2019)	criteria provided, single submitter
Select item 29711311.	NM_017837.4(PIGV):c.-57-6G>A GRCh37: Chr1:27117244 GRCh38: Chr1:26790753	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 43288612.	NM_017837.4(PIGV):c.-8G>T GRCh37: Chr1:27117299 GRCh38: Chr1:26790808	PIGV		not provided	Uncertain significance (Jun 21, 2017)	criteria provided, single submitter
Select item 39310913.	NM_017837.4(PIGV):c.5G>C (p.Trp2Ser) GRCh37: Chr1:27117311 GRCh38: Chr1:26790820	PIGV	W2S	not provided	Uncertain significance (Jun 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140267314.	NM_017837.4(PIGV):c.22C>T (p.Arg8Trp) GRCh37: Chr1:27117328 GRCh38: Chr1:26790837	PIGV	R8W	not provided	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148981115.	NM_017837.4(PIGV):c.23G>A (p.Arg8Gln) GRCh37: Chr1:27117329 GRCh38: Chr1:26790838	PIGV	R8Q	not provided	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 141289716.	NM_017837.4(PIGV):c.23G>T (p.Arg8Leu) GRCh37: Chr1:27117329 GRCh38: Chr1:26790838	PIGV	R8L	not provided	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 203491817.	NM_017837.4(PIGV):c.37A>G (p.Arg13Gly) GRCh37: Chr1:27117343 GRCh38: Chr1:26790852	PIGV	R13G	not provided	Uncertain significance (Dec 6, 2021)	criteria provided, single submitter
Select item 159324518.	NM_017837.4(PIGV):c.39G>A (p.Arg13=) GRCh37: Chr1:27117345 GRCh38: Chr1:26790854	PIGV		not provided	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 135429519.	NM_017837.4(PIGV):c.50G>C (p.Ser17Thr) GRCh37: Chr1:27117356 GRCh38: Chr1:26790865	PIGV	S17T	not provided	Uncertain significance (Nov 11, 2021)	criteria provided, single submitter
Select item 54794320.	NM_017837.4(PIGV):c.55C>T (p.Arg19Cys) GRCh37: Chr1:27117361 GRCh38: Chr1:26790870	PIGV	R19C	Hyperphosphatasia with intellectual disability syndrome 1	Likely pathogenic (Jan 27, 2017)	criteria provided, single submitter
Select item 135286921.	NM_017837.4(PIGV):c.56G>A (p.Arg19His) GRCh37: Chr1:27117362 GRCh38: Chr1:26790871	PIGV	R19H	not provided	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 87372122.	NM_017837.4(PIGV):c.78+4A>G GRCh37: Chr1:27117388 GRCh38: Chr1:26790897	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 161267723.	NM_017837.4(PIGV):c.78+11_78+12insGGGA GRCh37: Chr1:27117395-27117396 GRCh38: Chr1:26790904-26790905	PIGV		not provided	Likely benign (Oct 28, 2021)	criteria provided, single submitter
Select item 161901124.	NM_017837.4(PIGV):c.78+18T>C GRCh37: Chr1:27117402 GRCh38: Chr1:26790911	PIGV		not provided	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 210467825.	NM_017837.4(PIGV):c.79-3C>T GRCh37: Chr1:27120601 GRCh38: Chr1:26794110	PIGV		not provided	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 215556426.	NM_017837.4(PIGV):c.87C>G (p.Phe29Leu) GRCh37: Chr1:27120612 GRCh38: Chr1:26794121	PIGV	F29L	not provided	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 146865527.	NM_017837.4(PIGV):c.88A>G (p.Asn30Asp) GRCh37: Chr1:27120613 GRCh38: Chr1:26794122	PIGV	N30D	not provided	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 39319728.	NM_017837.4(PIGV):c.94A>G (p.Ile32Val) GRCh37: Chr1:27120619 GRCh38: Chr1:26794128	PIGV	I32V	not provided	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29711429.	NM_017837.4(PIGV):c.101C>T (p.Pro34Leu) GRCh37: Chr1:27120626 GRCh38: Chr1:26794135	PIGV	P34L	Hyperphosphatasia with intellectual disability syndrome 1, not specified, not provided	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136855630.	NM_017837.4(PIGV):c.109C>G (p.His37Asp) GRCh37: Chr1:27120634 GRCh38: Chr1:26794143	PIGV	H37D	not provided	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 39065431.	NM_017837.4(PIGV):c.111T>C (p.His37=) GRCh37: Chr1:27120636 GRCh38: Chr1:26794145	PIGV		not specified	Likely benign (Nov 3, 2016)	criteria provided, single submitter
Select item 44965932.	NM_017837.4(PIGV):c.115G>A (p.Glu39Lys) GRCh37: Chr1:27120640 GRCh38: Chr1:26794149	PIGV	E39K	Hyperphosphatasia with intellectual disability syndrome 1, not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 211958833.	NM_017837.4(PIGV):c.120C>T (p.Ala40_Phe41=) GRCh37: Chr1:27120645 GRCh38: Chr1:26794154	PIGV		not provided	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 141980734.	NM_017837.4(PIGV):c.126_127del (p.Pro43fs) GRCh37: Chr1:27120647-27120648 GRCh38: Chr1:26794156-26794157	PIGV	P43fs	not provided	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 149244635.	NM_017837.4(PIGV):c.130C>G (p.Pro44Ala) GRCh37: Chr1:27120655 GRCh38: Chr1:26794164	PIGV	P44A	not provided	Uncertain significance (Dec 4, 2021)	criteria provided, single submitter
Select item 135714836.	NM_017837.4(PIGV):c.130C>T (p.Pro44Ser) GRCh37: Chr1:27120655 GRCh38: Chr1:26794164	PIGV	P44S	not provided	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 42031537.	NM_017837.4(PIGV):c.133C>T (p.Arg45Cys) GRCh37: Chr1:27120658 GRCh38: Chr1:26794167	PIGV	R45C	not provided	Uncertain significance (Feb 28, 2017)	criteria provided, single submitter
Select item 28823638.	NM_017837.4(PIGV):c.134G>A (p.Arg45His) GRCh37: Chr1:27120659 GRCh38: Chr1:26794168	PIGV	R45H	not provided, Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 170052139.	NM_017837.4(PIGV):c.146C>A (p.Ser49Ter) GRCh37: Chr1:27120671 GRCh38: Chr1:26794180	PIGV	S49*	not provided	Pathogenic (Aug 4, 2022)	criteria provided, single submitter
Select item 212149840.	NM_017837.4(PIGV):c.148G>T (p.Gly50Cys) GRCh37: Chr1:27120673 GRCh38: Chr1:26794182	PIGV	G50C	not provided	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 137544641.	NM_017837.4(PIGV):c.158A>G (p.Asp53Gly) GRCh37: Chr1:27120683 GRCh38: Chr1:26794192	PIGV	D53G	not provided	Uncertain significance (Nov 16, 2021)	criteria provided, single submitter
Select item 228876842.	NM_017837.4(PIGV):c.164T>C (p.Leu55Pro) GRCh37: Chr1:27120689 GRCh38: Chr1:26794198	PIGV	L55P	Inborn genetic diseases	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 163749943.	NM_017837.4(PIGV):c.165C>T (p.Leu55=) GRCh37: Chr1:27120690 GRCh38: Chr1:26794199	PIGV		not provided	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 203205844.	NM_017837.4(PIGV):c.180G>C (p.Leu60_Gly61=) GRCh37: Chr1:27120705 GRCh38: Chr1:26794214	PIGV		not provided	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 207472545.	NM_017837.4(PIGV):c.181G>A (p.Gly61Ser) GRCh37: Chr1:27120706 GRCh38: Chr1:26794215	PIGV	G61S	not provided	Uncertain significance (Jan 12, 2022)	criteria provided, single submitter
Select item 38843446.	NM_017837.4(PIGV):c.183C>T (p.Gly61=) GRCh37: Chr1:27120708 GRCh38: Chr1:26794217	PIGV		not specified, not provided	Likely benign (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102949047.	NM_017837.4(PIGV):c.184G>A (p.Gly62Ser) GRCh37: Chr1:27120709 GRCh38: Chr1:26794218	PIGV	G62S	Inborn genetic diseases, not provided, Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 217477048.	NM_017837.4(PIGV):c.198G>A (p.Trp66Ter) GRCh37: Chr1:27120723 GRCh38: Chr1:26794232	PIGV	W66*	not provided	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 149413749.	NM_017837.4(PIGV):c.199G>A (p.Asp67Asn) GRCh37: Chr1:27120724 GRCh38: Chr1:26794233	PIGV	D67N	not provided	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 87372250.	NM_017837.4(PIGV):c.223G>A (p.Ala75Thr) GRCh37: Chr1:27120748 GRCh38: Chr1:26794257	PIGV	A75T	Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 116407751.	NM_017837.4(PIGV):c.242A>G (p.Tyr81Cys) GRCh37: Chr1:27120767 GRCh38: Chr1:26794276	PIGV	Y81C	Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 222910352.	NM_017837.4(PIGV):c.251A>G (p.Asn84Ser) GRCh37: Chr1:27120776 GRCh38: Chr1:26794285	PIGV	N84S	Inborn genetic diseases	Uncertain significance (Jan 27, 2021)	criteria provided, single submitter
Select item 38891853.	NM_017837.4(PIGV):c.258C>T (p.Ala86=) GRCh37: Chr1:27120783 GRCh38: Chr1:26794292	PIGV		not specified	Likely benign (Sep 1, 2016)	criteria provided, single submitter
Select item 152326954.	NM_017837.4(PIGV):c.262T>C (p.Phe88Leu) GRCh37: Chr1:27120787 GRCh38: Chr1:26794296	PIGV	F88L	not provided	Uncertain significance (Aug 1, 2021)	criteria provided, single submitter
Select item 87372355.	NM_017837.4(PIGV):c.265C>T (p.Pro89Ser) GRCh37: Chr1:27120790 GRCh38: Chr1:26794299	PIGV	P89S	Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 141469256.	NM_017837.4(PIGV):c.266C>T (p.Pro89Leu) GRCh37: Chr1:27120791 GRCh38: Chr1:26794300	PIGV	P89L	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 144089757.	NM_017837.4(PIGV):c.268G>A (p.Gly90Ser) GRCh37: Chr1:27120793 GRCh38: Chr1:26794302	PIGV	G90S	not provided	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 137281658.	NM_017837.4(PIGV):c.287T>C (p.Leu96Pro) GRCh37: Chr1:27120812 GRCh38: Chr1:26794321	PIGV	L96P	not provided	Uncertain significance (Oct 24, 2021)	criteria provided, single submitter
Select item 201523759.	NM_017837.4(PIGV):c.288G>T (p.Leu96_Val97=) GRCh37: Chr1:27120813 GRCh38: Chr1:26794322	PIGV		not provided	Likely benign (Jul 9, 2022)	criteria provided, single submitter
Select item 120723560.	NM_017837.4(PIGV):c.304T>C (p.Leu102=) GRCh37: Chr1:27120829 GRCh38: Chr1:26794338	PIGV		not provided	Likely benign (Jul 29, 2020)	criteria provided, single submitter
Select item 87372461.	NM_017837.4(PIGV):c.312C>G (p.Pro104=) GRCh37: Chr1:27120837 GRCh38: Chr1:26794346	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 152286162.	NM_017837.4(PIGV):c.316C>T (p.Arg106Trp) GRCh37: Chr1:27120841 GRCh38: Chr1:26794350	PIGV	R106W	not provided	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 214120863.	NM_017837.4(PIGV):c.317G>A (p.Arg106Gln) GRCh37: Chr1:27120842 GRCh38: Chr1:26794351	PIGV	R106Q	not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Jun 30, 2022)	criteria provided, conflicting interpretations
Select item 243485264.	NM_017837.4(PIGV):c.320G>T (p.Gly107Val) GRCh37: Chr1:27120845 GRCh38: Chr1:26794354	PIGV	G107V	Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Nov 14, 2022)	criteria provided, single submitter
Select item 219209765.	NM_017837.4(PIGV):c.324A>G (p.Leu108_Leu109=) GRCh37: Chr1:27120849 GRCh38: Chr1:26794358	PIGV		not provided	Likely benign (Dec 7, 2021)	criteria provided, single submitter
Select item 160619666.	NM_017837.4(PIGV):c.325C>T (p.Leu109=) GRCh37: Chr1:27120850 GRCh38: Chr1:26794359	PIGV		not provided	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 192360467.	NM_017837.4(PIGV):c.327G>A (p.Leu109_Ser110=) GRCh37: Chr1:27120852 GRCh38: Chr1:26794361	PIGV		not provided	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 166503068.	NM_017837.4(PIGV):c.333A>T (p.Leu111=) GRCh37: Chr1:27120858 GRCh38: Chr1:26794367	PIGV		not provided	Likely benign (Nov 22, 2021)	criteria provided, single submitter
Select item 51386569.	NM_017837.4(PIGV):c.333A>G (p.Leu111=) GRCh37: Chr1:27120858 GRCh38: Chr1:26794367	PIGV		not provided, not specified	Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 217157370.	NM_017837.4(PIGV):c.334C>T (p.Arg112Cys) GRCh37: Chr1:27120859 GRCh38: Chr1:26794368	PIGV	R112C	not provided	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 213523371.	NM_017837.4(PIGV):c.334C>A (p.Arg112Ser) GRCh37: Chr1:27120859 GRCh38: Chr1:26794368	PIGV	R112S	not provided	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 143003372.	NM_017837.4(PIGV):c.335G>A (p.Arg112His) GRCh37: Chr1:27120860 GRCh38: Chr1:26794369	PIGV	R112H	not provided	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 51818673.	NM_017837.4(PIGV):c.346C>T (p.Leu116=) GRCh37: Chr1:27120871 GRCh38: Chr1:26794380	PIGV		not specified, not provided	Likely benign (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29711574.	NM_017837.4(PIGV):c.348G>A (p.Leu116=) GRCh37: Chr1:27120873 GRCh38: Chr1:26794382	PIGV		Hyperphosphatasia with intellectual disability syndrome 1, not specified, not provided	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 28920275.	NM_017837.4(PIGV):c.348_349delinsAG (p.Ile117Val) GRCh37: Chr1:27120873-27120874 GRCh38: Chr1:26794382-26794383	PIGV	I117V	Hyperphosphatasia with intellectual disability syndrome 1, not provided	Conflicting interpretations of pathogenicity (Nov 2, 2022)	criteria provided, conflicting interpretations
Select item 29711676.	NM_017837.4(PIGV):c.349A>G (p.Ile117Val) GRCh37: Chr1:27120874 GRCh38: Chr1:26794383	PIGV	I117V	not specified, Hyperphosphatasia with intellectual disability syndrome 1, not provided	Conflicting interpretations of pathogenicity (Jun 18, 2020)	criteria provided, conflicting interpretations
Select item 51555777.	NM_017837.4(PIGV):c.354G>A (p.Ser118=) GRCh37: Chr1:27120879 GRCh38: Chr1:26794388	PIGV		not specified, not provided	Conflicting interpretations of pathogenicity (Apr 4, 2022)	criteria provided, conflicting interpretations
Select item 51412578.	NM_017837.4(PIGV):c.354G>C (p.Ser118=) GRCh37: Chr1:27120879 GRCh38: Chr1:26794388	PIGV		not provided, not specified	Likely benign (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 162281079.	NM_017837.4(PIGV):c.360A>G (p.Ala120=) GRCh37: Chr1:27120885 GRCh38: Chr1:26794394	PIGV		not provided	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 130896080.	NM_017837.4(PIGV):c.368A>G (p.Asn123Ser) GRCh37: Chr1:27120893 GRCh38: Chr1:26794402	PIGV	N123S	not provided	Uncertain significance (Oct 10, 2019)	criteria provided, single submitter
Select item 38711481.	NM_017837.4(PIGV):c.390T>C (p.Ala130=) GRCh37: Chr1:27120915 GRCh38: Chr1:26794424	PIGV		not provided	Likely benign (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218541082.	NM_017837.4(PIGV):c.409C>G (p.Leu137Val) GRCh37: Chr1:27120934 GRCh38: Chr1:26794443	PIGV	L10V, L137V	not provided	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 196962083.	NM_017837.4(PIGV):c.418C>T (p.Leu140_Val141=) GRCh37: Chr1:27120943 GRCh38: Chr1:26794452	PIGV		not provided	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 131927784.	NM_017837.4(PIGV):c.428A>G (p.His143Arg) GRCh37: Chr1:27120953 GRCh38: Chr1:26794462	PIGV	H143R, H16R	Hyperphosphatasia with intellectual disability syndrome 1, not provided	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215962985.	NM_017837.4(PIGV):c.434C>T (p.Pro145Leu) GRCh37: Chr1:27120959 GRCh38: Chr1:26794468	PIGV	P18L, P145L	not provided	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 147310586.	NM_017837.4(PIGV):c.439C>G (p.Gln147Glu) GRCh37: Chr1:27120964 GRCh38: Chr1:26794473	PIGV	Q147E, Q20E	not provided	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 128515287.	NM_017837.4(PIGV):c.439C>T (p.Gln147Ter) GRCh37: Chr1:27120964 GRCh38: Chr1:26794473	PIGV	Q147, Q20	not provided	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 68112388.	NM_017837.4(PIGV):c.450T>C (p.Tyr150=) GRCh37: Chr1:27120975 GRCh38: Chr1:26794484	PIGV		not provided	Likely benign (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 243485389.	NM_017837.4(PIGV):c.452C>T (p.Ala151Val) GRCh37: Chr1:27120977 GRCh38: Chr1:26794486	PIGV	A151V, A24V	Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 14, 2019)	criteria provided, single submitter
Select item 39208590.	NM_017837.4(PIGV):c.452C>G (p.Ala151Gly) GRCh37: Chr1:27120977 GRCh38: Chr1:26794486	PIGV	A151G, A24G	not provided	Uncertain significance (Dec 23, 2016)	criteria provided, single submitter
Select item 131146891.	NM_017837.4(PIGV):c.455C>A (p.Ala152Asp) GRCh37: Chr1:27120980 GRCh38: Chr1:26794489	PIGV	A152D, A25D	not provided	Uncertain significance (Sep 6, 2019)	criteria provided, single submitter
Select item 199575192.	NM_017837.4(PIGV):c.467G>C (p.Cys156Ser) GRCh37: Chr1:27120992 GRCh38: Chr1:26794501	PIGV	C29S, C156S	not provided	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 3082193.	NM_017837.4(PIGV):c.467G>A (p.Cys156Tyr) GRCh37: Chr1:27120992 GRCh38: Chr1:26794501	PIGV	C156Y, C29Y	not provided	Likely pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73355794.	NM_017837.4(PIGV):c.473G>A (p.Ser158Asn) GRCh37: Chr1:27120998 GRCh38: Chr1:26794507	PIGV	S31N, S158N	not provided, Hyperphosphatasia with intellectual disability syndrome 1	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135998595.	NM_017837.4(PIGV):c.479C>T (p.Ala160Val) GRCh37: Chr1:27121004 GRCh38: Chr1:26794513	PIGV	A160V, A33V	not provided	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 214750696.	NM_017837.4(PIGV):c.481A>C (p.Asn161His) GRCh37: Chr1:27121006 GRCh38: Chr1:26794515	PIGV	N161H, N34H	not provided	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 94862997.	NM_017837.4(PIGV):c.482A>G (p.Asn161Ser) GRCh37: Chr1:27121007 GRCh38: Chr1:26794516	PIGV	N161S, N34S	not provided	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 13566298.	NM_017837.4(PIGV):c.494C>A (p.Ala165Glu) GRCh37: Chr1:27121019 GRCh38: Chr1:26794528	PIGV	A165E, A38E	not provided	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 213075899.	NM_017837.4(PIGV):c.498T>C (p.Ala166_Gly167=) GRCh37: Chr1:27121023 GRCh38: Chr1:26794532	PIGV		not provided	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 1997218100.	NM_017837.4(PIGV):c.499G>A (p.Gly167Ser) GRCh37: Chr1:27121024 GRCh38: Chr1:26794533	PIGV	G40S, G167S	not provided	Uncertain significance (May 21, 2022)	criteria provided, single submitter

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