List of variants in gene combination GLA, RPL36A-HNRNPH2 reported as pathogenic by GeneDx

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: 37

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HGVS	dbSNP	gnomAD frequency
NM_000169.3(GLA):c.640-801G>A	rs199473684	0.00005
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys)	rs797044776	0.00001
NM_000169.3(GLA):c.644A>G (p.Asn215Ser)	rs28935197	0.00001
NM_000169.3(GLA):c.679C>T (p.Arg227Ter)	rs104894841	0.00001
NM_000169.3(GLA):c.1024C>T (p.Arg342Ter)	rs104894843
NM_000169.3(GLA):c.1033_1034del (p.Ser345fs)	rs398123198
NM_000169.3(GLA):c.1037del (p.Gly346fs)	rs879253990
NM_000169.3(GLA):c.1046G>A (p.Trp349Ter)	rs869312218
NM_000169.3(GLA):c.1066C>T (p.Arg356Trp)	rs104894827
NM_000169.3(GLA):c.1072_1074del (p.Glu358del)	rs730880453
NM_000169.3(GLA):c.1081G>A (p.Gly361Arg)	rs28935494
NM_000169.3(GLA):c.1118G>A (p.Gly373Asp)	rs869312227
NM_000169.3(GLA):c.1125_1140del (p.Val376fs)	rs876661347
NM_000169.3(GLA):c.1188del (p.Tyr397fs)	rs879253955
NM_000169.3(GLA):c.154T>C (p.Cys52Arg)	rs1057521047
NM_000169.3(GLA):c.242G>A (p.Trp81Ter)	rs398123208
NM_000169.3(GLA):c.26del (p.His9fs)	rs1555987215
NM_000169.3(GLA):c.272T>C (p.Ile91Thr)	rs869312141
NM_000169.3(GLA):c.274G>T (p.Asp92Tyr)	rs886041315
NM_000169.3(GLA):c.334C>T (p.Arg112Cys)	rs104894834
NM_000169.3(GLA):c.370-2A>G	rs730880444
NM_000169.3(GLA):c.402T>G (p.Tyr134Ter)	rs1183869568
NM_000169.3(GLA):c.427G>C (p.Ala143Pro)	rs104894845
NM_000169.3(GLA):c.469C>T (p.Gln157Ter)	rs797044702
NM_000169.3(GLA):c.548-1G>A	rs730880447
NM_000169.3(GLA):c.611G>A (p.Trp204Ter)	rs869312346
NM_000169.3(GLA):c.622_623del (p.Met208fs)	rs1064796601
NM_000169.3(GLA):c.680G>A (p.Arg227Gln)	rs104894840
NM_000169.3(GLA):c.707G>A (p.Trp236Ter)	rs879254022
NM_000169.3(GLA):c.713G>A (p.Ser238Asn)	rs730880450
NM_000169.3(GLA):c.718_719del (p.Lys240fs)	rs869312389
NM_000169.3(GLA):c.801G>A (p.Met267Ile)	rs730880451
NM_000169.3(GLA):c.80del (p.Pro27fs)	rs730880454
NM_000169.3(GLA):c.847C>T (p.Gln283Ter)	rs730880452
NM_000169.3(GLA):c.901C>T (p.Arg301Ter)	rs398123224
NM_000169.3(GLA):c.902G>A (p.Arg301Gln)	rs104894828
NM_000169.3(GLA):c.974G>A (p.Gly325Asp)	rs398123228

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