"Fulgent Genetics, Fulgent Genetics"[submitter] AND "GALNS"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1443737	NM_000512.5(GALNS):c.1475C>T (p.Ala492Val)	GALNS, LOC126862447 (A307V +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 194178	NM_000512.5(GALNS):c.1462G>A (p.Val488Met)	GALNS, LOC126862447 (V488M +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +2 more	GBenign
Select item 284192	NM_000512.5(GALNS):c.1438G>T (p.Val480Phe)	GALNS, LOC126862447 (V480F +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
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/Likely pathogenic
Select item 256331	NM_000512.5(GALNS):c.1003-42C>T	GALNS	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 885781	NM_000512.5(GALNS):c.952A>T (p.Met318Leu)	GALNS (M133L +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 708	NM_000512.5(GALNS):c.901G>T (p.Gly301Cys)	GALNS (G301C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 944266	NM_000512.5(GALNS):c.899-2A>C	GALNS	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic/Likely pathogenic
Select item 265169	NM_000512.5(GALNS):c.860C>T (p.Ser287Leu)	GALNS (S287L +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A +2 more	GPathogenic/Likely pathogenic
Select item 935607	NM_000512.5(GALNS):c.772G>A (p.Val258Ile)	GALNS (V258I +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1048302	NM_000512.5(GALNS):c.769G>A (p.Ala257Thr)	GALNS (A257T +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 1366340	NM_000512.5(GALNS):c.715G>A (p.Val239Ile)	GALNS (V245I +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 93179	NM_000512.5(GALNS):c.477G>A (p.Trp159Ter)	GALNS (W159* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-IV-A +1 more	GPathogenic
Select item 528321	NM_000512.5(GALNS):c.466T>C (p.Phe156Leu)	GALNS (F156L +1 more)	Single nucleotide variant (missense variant +1 more)	Morquio syndrome +2 more	GPathogenic/Likely pathogenic
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 1048188	NM_000512.5(GALNS):c.319+2T>C	GALNS	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic/Likely pathogenic
Select item 1472294	NM_000512.5(GALNS):c.304G>A (p.Ala102Thr)	GALNS (A108T +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 651205	NM_000512.5(GALNS):c.280C>T (p.Arg94Cys)	GALNS (R94C +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GPathogenic/Likely pathogenic
Select item 520618	NM_000512.5(GALNS):c.268C>T (p.Arg90Trp)	GALNS (R90W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 856567	NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)	GALNS (P83R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic

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Items: 20