"PreventionGenetics, part of Exact Sciences"[submitter] AND "NEU1"[gen - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 784070	NM_000434.4(NEU1):c.1239G>A (p.Gly413=)	NEU1	Single nucleotide variant (synonymous variant)	NEU1-related disorder +1 more	GBenign/Likely benign
Select item 966132	NM_000434.4(NEU1):c.1190G>A (p.Arg397Gln)	NEU1 (R397Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3034303	NM_000434.4(NEU1):c.1174C>G (p.Leu392Val)	NEU1 (L392V)	Single nucleotide variant (missense variant)	NEU1-related disorder	GUncertain significance
Select item 2893596	NM_000434.4(NEU1):c.939C>T (p.Leu313=)	NEU1	Single nucleotide variant (synonymous variant)	NEU1-related disorder +1 more	GLikely benign
Select item 2040993	NM_000434.4(NEU1):c.904C>G (p.Leu302Val)	NEU1 (L302V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2741935	NM_000434.4(NEU1):c.600G>A (p.Pro200=)	NEU1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1496950	NM_000434.4(NEU1):c.578C>A (p.Thr193Asn)	NEU1 (T193N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3055185	NM_000434.4(NEU1):c.565C>T (p.Leu189=)	NEU1	Single nucleotide variant (synonymous variant)	NEU1-related disorder	GLikely benign
Select item 2076138	NM_000434.4(NEU1):c.390T>C (p.Asp130=)	NEU1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1634437	NM_000434.4(NEU1):c.129C>T (p.Ser43=)	NEU1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2458	NM_000434.4(NEU1):c.69G>A (p.Trp23Ter)	NEU1 (W23*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3054013	NM_000434.4(NEU1):c.-8G>T	NEU1	Single nucleotide variant (5 prime UTR variant)	NEU1-related disorder	GLikely benign