"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC126862 - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2628470	NM_000512.5(GALNS):c.1451C>A (p.Pro484His)	GALNS, LOC126862447 (P299H +2 more)	Single nucleotide variant (missense variant)	GALNS-related disorder	GUncertain significance
Select item 3047892	NM_000512.5(GALNS):c.1440C>G (p.Val480=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	GALNS-related disorder	GLikely benign
Select item 93168	NM_000512.5(GALNS):c.1431G>A (p.Glu477=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 93167	NM_000512.5(GALNS):c.1413C>T (p.Val471=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 734171	NM_000512.5(GALNS):c.1374C>T (p.Ser458=)	GALNS, LOC126862447	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GLikely benign

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