List of variants in gene combination POMGNT1, TSPAN1 reported as likely pathogenic by Counsyl

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: 45

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HGVS	dbSNP	gnomAD frequency
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.1769G>A (p.Trp590Ter)	rs386834019	0.00003
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)	rs190057175	0.00002
NM_017739.4(POMGNT1):c.1152+2T>C	rs1553163335	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.643C>T (p.Arg215Ter)	rs386834034	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.1027-2_1027-1del	rs1057516536
NM_017739.4(POMGNT1):c.1104_1105del (p.Gln370fs)	rs1553163360
NM_017739.4(POMGNT1):c.1113del (p.Tyr372fs)	rs1057517369
NM_017739.4(POMGNT1):c.1212-1G>C	rs1553163254
NM_017739.4(POMGNT1):c.1274G>C (p.Trp425Ser)	rs386834011
NM_017739.4(POMGNT1):c.1284+2_1284+19del	rs1057516409
NM_017739.4(POMGNT1):c.1538_1539+2del	rs1057516576
NM_017739.4(POMGNT1):c.1539+1del	rs1553163077
NM_017739.4(POMGNT1):c.1562del (p.Lys521fs)	rs1057517422
NM_017739.4(POMGNT1):c.1604+1G>A	rs1553162873
NM_017739.4(POMGNT1):c.1604+2T>C	rs1553162872
NM_017739.4(POMGNT1):c.1649+2T>G	rs1268759044
NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn)	rs193919335
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.1741_1745del (p.Met581fs)	rs749332339
NM_017739.4(POMGNT1):c.1786-1G>A	rs1457667479
NM_017739.4(POMGNT1):c.1786-2A>G	rs1057517340
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.1852A>T (p.Lys618Ter)	rs1553162663
NM_017739.4(POMGNT1):c.1876del (p.Val626fs)	rs386834022
NM_017739.4(POMGNT1):c.1895+1G>C	rs386834024
NM_017739.4(POMGNT1):c.1905del (p.Lys635fs)	rs1553162601
NM_017739.4(POMGNT1):c.478del (p.Met160fs)	rs1057517355
NM_017739.4(POMGNT1):c.652+1G>A	rs386834035
NM_017739.4(POMGNT1):c.653-2A>C	rs1553163721
NM_017739.4(POMGNT1):c.875del (p.Asp292fs)	rs1057517247
NM_017739.4(POMGNT1):c.879+1G>C	rs1553163590
NM_017739.4(POMGNT1):c.879+2T>C	rs1057516318
NM_017739.4(POMGNT1):c.880-1G>A	rs1317832573
NM_017739.4(POMGNT1):c.880-2A>G	rs1057516830
NM_017739.4(POMGNT1):c.982dup (p.Val328fs)	rs386834040
NM_017739.4(POMGNT1):c.987del (p.Pro330fs)	rs1057516955

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