List of variants in gene combination GALNS, LOC130059762, TRAPPC2L reported as uncertain significance for mucopolysaccharidosis type 4A

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: 31

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HGVS	dbSNP	gnomAD frequency
NM_000512.5(GALNS):c.-54G>A	rs369448232	0.00280
NM_000512.5(GALNS):c.97A>G (p.Ile33Val)	rs768296954	0.00004
NM_000512.5(GALNS):c.47T>G (p.Val16Gly)	rs794729202	0.00002
NM_000512.5(GALNS):c.13G>A (p.Val5Ile)	rs1415400985	0.00001
NM_000512.5(GALNS):c.53G>C (p.Ser18Thr)	rs763093375	0.00001
NM_000512.5(GALNS):c.66G>T (p.Met22Ile)	rs1427287935	0.00001
NM_000512.5(GALNS):c.-10C>G	rs781533703
NM_000512.5(GALNS):c.-1_6delinsT (p.Met1_Ala2del)	rs2143013673
NM_000512.5(GALNS):c.-42G>T	rs1433642862
NM_000512.5(GALNS):c.-58C>A	rs1244075467
NM_000512.5(GALNS):c.-58C>G	rs1244075467
NM_000512.5(GALNS):c.100C>G (p.Leu34Val)	rs1352806619
NM_000512.5(GALNS):c.100CTGCTC[1] (p.Leu36_Leu37del)	rs794726887
NM_000512.5(GALNS):c.107T>C (p.Leu36Pro)	rs755832705
NM_000512.5(GALNS):c.112A>C (p.Met38Leu)	rs1306083557
NM_000512.5(GALNS):c.115G>T (p.Asp39Tyr)	rs2143013504
NM_000512.5(GALNS):c.118G>A (p.Asp40Asn)	rs1967935603
NM_000512.5(GALNS):c.118G>T (p.Asp40Tyr)
NM_000512.5(GALNS):c.119A>G (p.Asp40Gly)	rs1967935467
NM_000512.5(GALNS):c.120+4A>G	rs1213209894
NM_000512.5(GALNS):c.23C>G (p.Thr8Arg)	rs2143013653
NM_000512.5(GALNS):c.31T>C (p.Trp11Arg)
NM_000512.5(GALNS):c.3G>A (p.Met1Ile)	rs2143013681
NM_000512.5(GALNS):c.43C>A (p.Leu15Met)	rs866745731
NM_000512.5(GALNS):c.46G>T (p.Val16Leu)
NM_000512.5(GALNS):c.47T>A (p.Val16Glu)	rs794729202
NM_000512.5(GALNS):c.67G>C (p.Gly23Arg)	rs2143013593
NM_000512.5(GALNS):c.77G>A (p.Gly26Asp)	rs1210023208
NM_000512.5(GALNS):c.89C>T (p.Pro30Leu)	rs1298604798
NM_000512.5(GALNS):c.94A>G (p.Asn32Asp)	rs2143013538
NM_000512.5(GALNS):c.95A>C (p.Asn32Thr)	rs773933657

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