"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "NEU1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1314037	NM_000434.4(NEU1):c.1069C>T (p.Arg357Trp)	NEU1 (R357W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2449	NM_000434.4(NEU1):c.649G>A (p.Val217Met)	NEU1 (V217M)	Single nucleotide variant (missense variant)	Sialidosis +1 more	GPathogenic/Likely pathogenic
Select item 356233	NM_000434.4(NEU1):c.486C>T (p.Ala162=)	NEU1	Single nucleotide variant (synonymous variant)	Sialidosis type 2 +1 more	GBenign/Likely benign
Select item 716691	NM_000434.4(NEU1):c.432C>T (p.Ser144=)	NEU1	Single nucleotide variant (synonymous variant)	Sialidosis type 2 +1 more	GConflicting classifications of pathogenicity
Select item 559022	NM_000434.4(NEU1):c.408G>A (p.Gly136=)	NEU1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3379645	NM_000434.4(NEU1):c.379A>T (p.Ile127Phe)	NEU1 (I127F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 559023	NM_000434.4(NEU1):c.352+27C>T	NEU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 289175	NM_000434.4(NEU1):c.263G>C (p.Gly88Ala)	NEU1 (G88A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1120160	Single allele	NEU1	Duplication	not provided	GUncertain significance

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