C0086651[trait identifier] AND "Foundation for Research in Genetics an - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1064675	NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro)	IDUA (R496P +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A +3 more	GPathogenic/Likely pathogenic
Select item 1048343	NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser)	GALNS (C316S +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 2498327	NM_000512.5(GALNS):c.1483-2A>C	GALNS	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 2627396	NM_000512.5(GALNS):c.1387G>T (p.Glu463Ter)	LOC126862447, GALNS (E278* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1332851	NM_000512.5(GALNS):c.1286C>T (p.Thr429Ile)	GALNS (T244I +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048357	NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg)	GALNS (P235R +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 873053	NM_000512.5(GALNS):c.1241dup (p.Ile416fs)	GALNS (I416fs +2 more)	Duplication (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1048350	NM_000512.5(GALNS):c.1240C>T (p.Gln414Ter)	GALNS (Q229* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 93163	NM_000512.5(GALNS):c.1175C>T (p.Ala392Val)	GALNS (A392V +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GPathogenic
Select item 873055	NM_000512.5(GALNS):c.1049T>C (p.Leu350Pro)	GALNS (L356P +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048222	NM_000512.5(GALNS):c.938C>T (p.Thr313Met)	GALNS (T128M +2 more)	Single nucleotide variant (missense variant)	Morquio syndrome +1 more	GConflicting classifications of pathogenicity
Select item 873054	NM_000512.5(GALNS):c.836ACA[1] (p.Asn280del)	GALNS (N95del +2 more)	Microsatellite (inframe_deletion)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 1810196	NM_000512.5(GALNS):c.835del (p.Asp279fs)	GALNS (D279fs +2 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 873057	NM_000512.5(GALNS):c.764G>C (p.Gly255Ala)	GALNS (G70A +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1048200	NM_000512.5(GALNS):c.697G>A (p.Asp233Asn)	GALNS (D233N +2 more)	Single nucleotide variant (missense variant)	Morquio syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1048469	NM_000512.5(GALNS):c.647T>C (p.Phe216Ser)	GALNS (F216S +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic/Likely pathogenic
Select item 873056	NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)	GALNS (P157L +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic/Likely pathogenic
Select item 2571592	NM_000512.5(GALNS):c.423-11_425del	GALNS	Deletion (splice acceptor variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 1710492	NM_000512.5(GALNS):c.374del (p.Pro125fs)	GALNS (P125fs +1 more)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 873151	NM_000512.5(GALNS):c.374C>T (p.Pro125Leu)	GALNS (P125L +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic/Likely pathogenic
Select item 873059	NM_000512.5(GALNS):c.235T>C (p.Cys79Arg)	GALNS (C79R +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic/Likely pathogenic
Select item 856567	NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)	GALNS (P83R +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A +1 more	GPathogenic/Likely pathogenic
Select item 2573994	NM_000512.5(GALNS):c.187G>C (p.Ala63Pro)	GALNS (A63P +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 381663	NM_000512.5(GALNS):c.181C>T (p.Arg61Trp)	GALNS (R61W +1 more)	Single nucleotide variant (missense variant +1 more)	Morquio syndrome +2 more	GPathogenic/Likely pathogenic
Select item 916633	NM_000512.5(GALNS):c.121-7C>G	GALNS	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-A	GConflicting classifications of pathogenicity
Select item 847816	NM_000512.5(GALNS):c.120+1G>C	GALNS, LOC130059762 +1 more	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 870481	NM_000512.5(GALNS):c.116A>G (p.Asp39Gly)	GALNS, LOC130059762 +1 more (D39G)	Single nucleotide variant (5 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 27