List of variants in gene combination POMGNT1, TSPAN1 reported as pathogenic for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

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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: 34

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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_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.636C>T (p.Phe212=)	rs190057175	0.00002
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His)	rs150877512	0.00001
NM_017739.4(POMGNT1):c.1489C>T (p.Arg497Ter)	rs745343484	0.00001
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter)	rs386834018	0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)	rs375431575	0.00001
NM_017739.4(POMGNT1):c.458C>G (p.Ser153Ter)	rs1048865247	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.931C>T (p.Arg311Ter)	rs386834039	0.00001
NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter)	rs751254522
NM_017739.4(POMGNT1):c.1285-2A>G	rs386834012
NM_017739.4(POMGNT1):c.1413+1G>C	rs587777821
NM_017739.4(POMGNT1):c.1413+1G>T	rs587777821
NM_017739.4(POMGNT1):c.1425G>A (p.Trp475Ter)	rs267606961
NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter)	rs727504103
NM_017739.4(POMGNT1):c.1478C>G (p.Pro493Arg)	rs28942068
NM_017739.4(POMGNT1):c.1609A>T (p.Lys537Ter)
NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn)	rs193919335
NM_017739.4(POMGNT1):c.1719del (p.His573fs)	rs386834017
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.1832del (p.Leu611fs)	rs587777822
NM_017739.4(POMGNT1):c.1876del (p.Val626fs)	rs386834022
NM_017739.4(POMGNT1):c.1895+1G>A	rs386834024
NM_017739.4(POMGNT1):c.511C>T (p.Arg171Ter)	rs1424631447
NM_017739.4(POMGNT1):c.652+1G>A	rs386834035
NM_017739.4(POMGNT1):c.667G>A (p.Glu223Lys)	rs386834036
NM_017739.4(POMGNT1):c.880-1G>A	rs1317832573
NM_017739.4(POMGNT1):c.880-1G>C	rs1317832573

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