"GALNS-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2892379	NM_000512.5(GALNS):c.1509G>A (p.Lys503=)	GALNS	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GLikely benign
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 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
Select item 620097	NM_000512.5(GALNS):c.1228G>T (p.Glu410Ter)	GALNS (E410* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1578840	NM_000512.5(GALNS):c.1161C>T (p.Gly387=)	GALNS	Single nucleotide variant (synonymous variant)	GALNS-related disorder +1 more	GLikely benign
Select item 321199	NM_000512.5(GALNS):c.921G>T (p.Leu307=)	GALNS	Single nucleotide variant (synonymous variant)	GALNS-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1358302	NM_000512.5(GALNS):c.817C>T (p.Gln273Ter)	GALNS (Q88* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-A +1 more	GPathogenic/Likely pathogenic
Select item 93177	NM_000512.5(GALNS):c.405_422+1del	GALNS	Deletion (splice donor variant)	not provided +2 more	GPathogenic
Select item 928751	NM_000512.5(GALNS):c.346G>A (p.Gly116Ser)	GALNS (G116S +1 more)	Single nucleotide variant (missense variant +1 more)	GALNS-related disorder +2 more	GPathogenic
Select item 774722	NM_000512.5(GALNS):c.324C>T (p.Tyr108=)	GALNS	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-A +2 more	GConflicting classifications of pathogenicity
Select item 632825	NM_000512.5(GALNS):c.252G>A (p.Ala84=)	GALNS	Single nucleotide variant (synonymous variant +1 more)	GALNS-related disorder +2 more	GLikely benign
Select item 321207	NM_000512.5(GALNS):c.240G>A (p.Ser80=)	GALNS	Single nucleotide variant (synonymous variant +1 more)	GALNS-related disorder +2 more	GBenign/Likely benign
Select item 521930	NM_000512.5(GALNS):c.239C>T (p.Ser80Leu)	GALNS (S80L +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A +3 more	GPathogenic/Likely pathogenic
Select item 321208	NM_000512.5(GALNS):c.121-4G>A	GALNS	Single nucleotide variant (intron variant)	GALNS-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3035483	NM_000512.5(GALNS):c.121-202_121-150del	GALNS	Deletion (intron variant +1 more)	GALNS-related disorder	GLikely benign
Select item 1226873	NM_000512.5(GALNS):c.121-208A>G	GALNS (D44G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 3057171	NM_000512.5(GALNS):c.121-225G>A	GALNS	Single nucleotide variant (synonymous variant +1 more)	GALNS-related disorder	GLikely benign
Select item 2628922	NM_000512.5(GALNS):c.121-298A>G	GALNS (H14R)	Single nucleotide variant (missense variant +1 more)	GALNS-related disorder	GUncertain significance

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Items: 20