List of variants reported as uncertain significance for inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation by Baylor Genetics

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		ClinVar version:

Total variants: 58

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HGVS	dbSNP	gnomAD frequency
NM_001127178.3(PIGG):c.422C>T (p.Ala141Val)	rs116772777	0.00227
NM_001127178.3(PIGG):c.724G>A (p.Val242Met)	rs144411585	0.00187
NM_001127178.3(PIGG):c.998G>A (p.Ser333Asn)	rs185712951	0.00122
NM_017837.4(PIGV):c.1369C>T (p.Leu457Phe)	rs143676075	0.00068
NM_017837.4(PIGV):c.872A>G (p.Asn291Ser)	rs147396061	0.00051
NM_001127178.3(PIGG):c.2053G>A (p.Gly685Ser)	rs200770933	0.00032
NM_003896.4(ST3GAL5):c.1247G>T (p.Arg416Leu)	rs200683924	0.00028
NM_032634.4(PIGO):c.2635G>A (p.Val879Ile)	rs139155910	0.00024
NM_032634.4(PIGO):c.794G>A (p.Arg265His)	rs200924324	0.00024
NM_001127178.3(PIGG):c.2059T>C (p.Trp687Arg)	rs566226008	0.00021
NM_001127178.3(PIGG):c.2798C>T (p.Thr933Met)	rs372561507	0.00019
NM_001346754.2(PIGW):c.533C>G (p.Ser178Cys)	rs368008171	0.00019
NM_001042616.3(PIGY):c.151A>G (p.Ile51Val)	rs201457617	0.00018
NM_001127178.3(PIGG):c.712G>A (p.Glu238Lys)	rs781997463	0.00016
NM_001127178.3(PIGG):c.2086G>A (p.Glu696Lys)	rs142598041	0.00015
NM_001127178.3(PIGG):c.2552A>C (p.Gln851Pro)	rs150802299	0.00014
NM_003896.4(ST3GAL5):c.1063G>A (p.Glu355Lys)	rs534438354	0.00013
NM_003896.4(ST3GAL5):c.1129A>G (p.Ser377Gly)	rs748173859	0.00008
NM_001127178.3(PIGG):c.589A>G (p.Arg197Gly)	rs151220901	0.00006
NM_176787.5(PIGN):c.1693C>T (p.Arg565Cys)	rs374005156	0.00006
NM_176787.5(PIGN):c.1694G>A (p.Arg565His)	rs201835155	0.00006
NM_017837.4(PIGV):c.115G>A (p.Glu39Lys)	rs369275802	0.00005
NM_001127178.3(PIGG):c.23T>C (p.Phe8Ser)	rs182168436	0.00004
NM_001127178.3(PIGG):c.2536C>T (p.His846Tyr)	rs368126393	0.00003
NM_176787.5(PIGN):c.1442G>A (p.Ser481Asn)	rs763149264	0.00003
NM_017837.4(PIGV):c.184G>A (p.Gly62Ser)	rs777251503	0.00002
NM_001127178.3(PIGG):c.2207C>T (p.Ala736Val)	rs745563663	0.00001
NM_001127178.3(PIGG):c.305C>A (p.Ser102Tyr)	rs1310018267	0.00001
NM_001127178.3(PIGG):c.908T>C (p.Ile303Thr)	rs1459250449	0.00001
NM_001346397.2(PGAP2):c.10A>G (p.Ile4Val)	rs1362392252	0.00001
NM_001346754.2(PIGW):c.1259A>C (p.Asn420Thr)	rs759140627	0.00001
NM_002641.4(PIGA):c.269A>G (p.Tyr90Cys)	rs1445335859	0.00001
NM_003896.4(ST3GAL5):c.1165C>G (p.His389Asp)	rs140151286	0.00001
NM_004278.4(PIGL):c.296T>G (p.Leu99Trp)	rs1179113684	0.00001
NM_015937.6(PIGT):c.1729C>G (p.Pro577Ala)	rs764299877	0.00001
NM_033419.5(PGAP3):c.307C>G (p.Gln103Glu)	rs900578977	0.00001
NM_176787.5(PIGN):c.473G>T (p.Ser158Ile)	rs767550839	0.00001
NM_001042616.3(PIGY):c.-334C>T	rs1401283490
NM_001042616.3(PIGY):c.101G>A (p.Cys34Tyr)	rs1399588452
NM_001127178.3(PIGG):c.1210C>G (p.Leu404Val)	rs1347377154
NM_001127178.3(PIGG):c.1428T>C (p.Phe476=)	rs766083746
NM_001127178.3(PIGG):c.2240C>T (p.Pro747Leu)	rs1329504961
NM_001127178.3(PIGG):c.2576A>G (p.Asn859Ser)	rs745840866
NM_001127178.3(PIGG):c.846C>A (p.Thr282=)	rs144638389
NM_002641.4(PIGA):c.241C>T (p.Arg81Cys)	rs1569180071
NM_002641.4(PIGA):c.392T>A (p.Phe131Tyr)	rs1922155142
NM_003896.4(ST3GAL5):c.479C>A (p.Pro160His)	rs1553405319
NM_004855.5(PIGB):c.1220A>G (p.His407Arg)	rs1566960044
NM_015937.6(PIGT):c.1730dup (p.Leu578fs)	rs760395465
NM_015937.6(PIGT):c.848A>T (p.Asp283Val)	rs574857016
NM_017837.4(PIGV):c.348_349delinsAG (p.Ile117Val)	rs886044116
NM_032634.4(PIGO):c.2363C>A (p.Thr788Asn)	rs1390807512
NM_032634.4(PIGO):c.3233C>T (p.Ser1078Phe)	rs1179043464
NM_033419.5(PGAP3):c.754C>T (p.His252Tyr)	rs1440802425
NM_176787.5(PIGN):c.1144A>G (p.Thr382Ala)	rs1303809190
NM_176787.5(PIGN):c.1694G>T (p.Arg565Leu)	rs201835155
NM_176787.5(PIGN):c.2288C>T (p.Thr763Ile)	rs2033831809
NM_176787.5(PIGN):c.2619+5G>A

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