List of variants in gene combination POMGNT1, TSPAN1 reported as likely pathogenic for hereditary skeletal muscle disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 162

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017739.4(POMGNT1):c.1539+1G>A	rs138642840	0.00034
NM_017739.4(POMGNT1):c.1895+1G>T	rs386834024	0.00009
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His)	rs386834010	0.00004
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)	rs28940869	0.00004
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)	rs267606960	0.00004
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)	rs193919336	0.00004
NM_017739.4(POMGNT1):c.1453C>T (p.Arg485Cys)	rs755588045	0.00003
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)	rs386834019	0.00003
NM_017739.4(POMGNT1):c.1649+1G>A	rs752700398	0.00002
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)	rs190057175	0.00002
NM_017739.4(POMGNT1):c.860T>G (p.Ile287Ser)	rs200863680	0.00002
NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr)	rs138745073	0.00001
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His)	rs762972459	0.00001
NM_017739.4(POMGNT1):c.1110+1G>A	rs1657940058	0.00001
NM_017739.4(POMGNT1):c.1152+2T>C	rs1553163335	0.00001
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His)	rs150877512	0.00001
NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg)	rs386834014	0.00001
NM_017739.4(POMGNT1):c.1489C>T (p.Arg497Ter)	rs745343484	0.00001
NM_017739.4(POMGNT1):c.1490G>A (p.Arg497Gln)	rs573518562	0.00001
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser)	rs760705290	0.00001
NM_017739.4(POMGNT1):c.1605-1G>C	rs770219373	0.00001
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter)	rs386834018	0.00001
NM_017739.4(POMGNT1):c.1813C>T (p.Arg605Cys)	rs886044567	0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)	rs375431575	0.00001
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)	rs386834034	0.00001
NM_017739.4(POMGNT1):c.652+1G>T	rs386834035	0.00001
NM_017739.4(POMGNT1):c.751+1G>A	rs1247668825	0.00001
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)	rs386834039	0.00001
NC_000001.10:g.(?_46656135)_(46656466_?)dup
NM_017739.4(POMGNT1):c.1001_1002del (p.Thr334fs)	rs1571659306
NM_017739.4(POMGNT1):c.1006_1007dup (p.Ile337fs)
NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter)	rs751254522
NM_017739.4(POMGNT1):c.1027-2_1027-1del	rs1057516536
NM_017739.4(POMGNT1):c.1069C>T (p.Gln357Ter)
NM_017739.4(POMGNT1):c.1080del (p.Ile361fs)	rs2148192392
NM_017739.4(POMGNT1):c.1096del (p.Ala366fs)
NM_017739.4(POMGNT1):c.1104_1105del (p.Gln370fs)	rs1553163360
NM_017739.4(POMGNT1):c.1110+1G>T
NM_017739.4(POMGNT1):c.1111-1G>A
NM_017739.4(POMGNT1):c.1111-8_1119del
NM_017739.4(POMGNT1):c.1113del (p.Tyr372fs)	rs1057517369
NM_017739.4(POMGNT1):c.1117A>T (p.Lys373Ter)
NM_017739.4(POMGNT1):c.1152+1G>A	rs1474858292
NM_017739.4(POMGNT1):c.1153-1G>C	rs1657900739
NM_017739.4(POMGNT1):c.1153-4_1153-1del
NM_017739.4(POMGNT1):c.1212-1G>A	rs1553163254
NM_017739.4(POMGNT1):c.1212-1G>C	rs1553163254
NM_017739.4(POMGNT1):c.1212-3_1212-2del	rs1064797111
NM_017739.4(POMGNT1):c.1229_1232del (p.Ile410fs)
NM_017739.4(POMGNT1):c.1268C>T (p.Ser423Phe)	rs1571655768
NM_017739.4(POMGNT1):c.1274G>C (p.Trp425Ser)	rs386834011
NM_017739.4(POMGNT1):c.1284+1G>A
NM_017739.4(POMGNT1):c.1284+2_1284+19del	rs1057516409
NM_017739.4(POMGNT1):c.1285-2A>G	rs386834012
NM_017739.4(POMGNT1):c.1286G>T (p.Gly429Val)	rs751274265
NM_017739.4(POMGNT1):c.1287dup
NM_017739.4(POMGNT1):c.1304_1305del (p.Glu435fs)
NM_017739.4(POMGNT1):c.1319T>G (p.Leu440Arg)	rs386834013
NM_017739.4(POMGNT1):c.1343G>A (p.Gly448Glu)
NM_017739.4(POMGNT1):c.1350_1354del (p.Trp451fs)	rs386834015
NM_017739.4(POMGNT1):c.1352G>A (p.Trp451Ter)
NM_017739.4(POMGNT1):c.1397G>A (p.Trp466Ter)
NM_017739.4(POMGNT1):c.1398G>A (p.Trp466Ter)
NM_017739.4(POMGNT1):c.1413+1G>T	rs587777821
NM_017739.4(POMGNT1):c.1414-1G>T
NM_017739.4(POMGNT1):c.1414-2A>C
NM_017739.4(POMGNT1):c.1431del (p.Met477fs)
NM_017739.4(POMGNT1):c.1445_1447delinsA (p.Pro482fs)
NM_017739.4(POMGNT1):c.1450C>T (p.Gln484Ter)
NM_017739.4(POMGNT1):c.1461_1462dup (p.Arg488fs)
NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter)	rs727504103
NM_017739.4(POMGNT1):c.1468T>G (p.Cys490Gly)
NM_017739.4(POMGNT1):c.1538_1539+2del	rs1057516576
NM_017739.4(POMGNT1):c.1539+1del	rs1553163077
NM_017739.4(POMGNT1):c.1540-2A>G	rs386834016
NM_017739.4(POMGNT1):c.1556del (p.Lys519fs)	rs1176001640
NM_017739.4(POMGNT1):c.1557del (p.Lys519fs)
NM_017739.4(POMGNT1):c.1562del (p.Lys521fs)	rs1057517422
NM_017739.4(POMGNT1):c.1566dup (p.Asn523fs)
NM_017739.4(POMGNT1):c.1585C>T (p.Gln529Ter)
NM_017739.4(POMGNT1):c.1604+1G>A	rs1553162873
NM_017739.4(POMGNT1):c.1604+2T>C	rs1553162872
NM_017739.4(POMGNT1):c.1605-1G>T	rs770219373
NM_017739.4(POMGNT1):c.1605-1_1605delinsCG
NM_017739.4(POMGNT1):c.1605-2A>T	rs2148172518
NM_017739.4(POMGNT1):c.1605-2_1606del
NM_017739.4(POMGNT1):c.1649+2T>G	rs1268759044
NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn)	rs193919335
NM_017739.4(POMGNT1):c.1650-2A>G
NM_017739.4(POMGNT1):c.1650-97_1728del	rs2148166991
NM_017739.4(POMGNT1):c.1684dup (p.Cys562fs)
NM_017739.4(POMGNT1):c.1686T>A (p.Cys562Ter)
NM_017739.4(POMGNT1):c.1686dup (p.Glu563Ter)	rs2148167494
NM_017739.4(POMGNT1):c.1694_1695del (p.Ser565fs)	rs1057516903
NM_017739.4(POMGNT1):c.1695_1698del (p.Phe566fs)	rs1057516986
NM_017739.4(POMGNT1):c.1719del (p.His573fs)	rs386834017
NM_017739.4(POMGNT1):c.1741_1745del (p.Met581fs)	rs749332339
NM_017739.4(POMGNT1):c.1759_1763del (p.Phe587fs)	rs1302430730
NM_017739.4(POMGNT1):c.1785+1G>A	rs2148166435
NM_017739.4(POMGNT1):c.1785+2T>G	rs386834020
NM_017739.4(POMGNT1):c.1786-1G>A	rs1457667479
NM_017739.4(POMGNT1):c.1786-2A>G	rs1057517340
NM_017739.4(POMGNT1):c.1813C>A (p.Arg605Ser)	rs886044567
NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His)	rs267606962
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro)	rs267606962
NM_017739.4(POMGNT1):c.1814G>T (p.Arg605Leu)	rs267606962
NM_017739.4(POMGNT1):c.1835G>A (p.Trp612Ter)
NM_017739.4(POMGNT1):c.1852A>T (p.Lys618Ter)	rs1553162663
NM_017739.4(POMGNT1):c.1864del (p.Phe621_Leu622insTer)	rs386834021
NM_017739.4(POMGNT1):c.1876del (p.Val626fs)	rs386834022
NM_017739.4(POMGNT1):c.1895+1G>A	rs386834024
NM_017739.4(POMGNT1):c.1895+1G>C	rs386834024
NM_017739.4(POMGNT1):c.1895+5_1895+8del	rs386834023
NM_017739.4(POMGNT1):c.1896-1G>C	rs386834025
NM_017739.4(POMGNT1):c.1905del (p.Lys635fs)	rs1553162601
NM_017739.4(POMGNT1):c.1928del (p.Phe643fs)	rs386834026
NM_017739.4(POMGNT1):c.390del (p.Ile131fs)
NM_017739.4(POMGNT1):c.421-29_452del	rs2148212111
NM_017739.4(POMGNT1):c.447del (p.Phe149fs)	rs386834029
NM_017739.4(POMGNT1):c.458C>A (p.Ser153Ter)
NM_017739.4(POMGNT1):c.478del (p.Met160fs)	rs1057517355
NM_017739.4(POMGNT1):c.511C>T (p.Arg171Ter)	rs1424631447
NM_017739.4(POMGNT1):c.526A>C (p.Thr176Pro)	rs386834030
NM_017739.4(POMGNT1):c.580_581del (p.Arg194fs)
NM_017739.4(POMGNT1):c.584del (p.Ser195fs)
NM_017739.4(POMGNT1):c.593del (p.Ser198fs)	rs386834031
NM_017739.4(POMGNT1):c.594C>G (p.Ser198Arg)	rs386834032
NM_017739.4(POMGNT1):c.599del (p.Ala200fs)
NM_017739.4(POMGNT1):c.617G>A (p.Trp206Ter)	rs1156647434
NM_017739.4(POMGNT1):c.625_626insAA (p.Thr209fs)
NM_017739.4(POMGNT1):c.630G>T (p.Trp210Cys)	rs386834033
NM_017739.4(POMGNT1):c.640G>T (p.Gly214Ter)
NM_017739.4(POMGNT1):c.652+1G>A	rs386834035
NM_017739.4(POMGNT1):c.653-2A>C	rs1553163721
NM_017739.4(POMGNT1):c.660del (p.Phe221fs)
NM_017739.4(POMGNT1):c.667G>A (p.Glu223Lys)	rs386834036
NM_017739.4(POMGNT1):c.679_681delinsG (p.Lys227fs)
NM_017739.4(POMGNT1):c.701G>A (p.Trp234Ter)
NM_017739.4(POMGNT1):c.702G>A (p.Trp234Ter)
NM_017739.4(POMGNT1):c.732del (p.Pro245fs)
NM_017739.4(POMGNT1):c.751+2T>G
NM_017739.4(POMGNT1):c.752-2A>G	rs1236287516
NM_017739.4(POMGNT1):c.776_777del (p.Thr259fs)
NM_017739.4(POMGNT1):c.779_780del (p.Glu260fs)
NM_017739.4(POMGNT1):c.794G>C (p.Arg265Pro)	rs386834010
NM_017739.4(POMGNT1):c.806G>A (p.Cys269Tyr)	rs386834037
NM_017739.4(POMGNT1):c.862G>T (p.Glu288Ter)
NM_017739.4(POMGNT1):c.875del (p.Asp292fs)	rs1057517247
NM_017739.4(POMGNT1):c.878del (p.Pro293fs)	rs752389406
NM_017739.4(POMGNT1):c.879+1G>C	rs1553163590
NM_017739.4(POMGNT1):c.879+2T>C	rs1057516318
NM_017739.4(POMGNT1):c.879+2T>G
NM_017739.4(POMGNT1):c.879+5G>A	rs386834038
NM_017739.4(POMGNT1):c.879+5G>T	rs386834038
NM_017739.4(POMGNT1):c.880-1G>A	rs1317832573
NM_017739.4(POMGNT1):c.880-1G>C	rs1317832573
NM_017739.4(POMGNT1):c.880-2A>G	rs1057516830
NM_017739.4(POMGNT1):c.931C>G (p.Arg311Gly)
NM_017739.4(POMGNT1):c.932G>C (p.Arg311Pro)
NM_017739.4(POMGNT1):c.982dup (p.Val328fs)	rs386834040
NM_017739.4(POMGNT1):c.987del (p.Pro330fs)	rs1057516955
NM_017739.4(POMGNT1):c.991C>T (p.Gln331Ter)	rs1557673817

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.