"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "LOC1268624 - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2647013	NM_000512.5(GALNS):c.1458C>T (p.Leu486=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 321188	NM_000512.5(GALNS):c.1443C>T (p.Pro481=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A +2 more	GBenign/Likely benign