ClinVar for Gene (Select 4758) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341344	NM_000434.4(NEU1):c.352+1G>T	NEU1	Single nucleotide variant (splice donor variant)	Sialidosis type 2	GLikely pathogenic
Select item 3340093	NM_000434.4(NEU1):c.914G>T (p.Arg305Leu)	NEU1 (R305L)	Single nucleotide variant (missense variant)	Sialidosis type 2	GUncertain significance
Select item 3339597	NC_000006.11:g.(?_31825435)_(31830599_?)dup	NEU1	Duplication	not specified	GUncertain significance
Select item 3299330	NM_000434.4(NEU1):c.874G>A (p.Val292Ile)	NEU1 (V292I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3299329	NM_000434.4(NEU1):c.635A>G (p.Lys212Arg)	NEU1 (K212R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251791	NM_000434.4(NEU1):c.839G>A (p.Arg280Gln)	NEU1 (R280Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250377	NM_000434.4(NEU1):c.886T>C (p.Tyr296His)	NEU1 (Y296H)	Single nucleotide variant (missense variant)	Sialidosis type 2	GUncertain significance
Select item 3246239	NC_000006.11:g.(?_31620520)_(31937492_?)del	ABHD16A, APOM +28 more	Deletion	not provided	GUncertain significance
Select item 3246158	NC_000006.11:g.(?_31631971)_(31895135_?)del	ABHD16A, C2 +23 more	Deletion	not provided	GPathogenic
Select item 3194359	NM_000434.4(NEU1):c.881G>A (p.Arg294His)	NEU1 (R294H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3194345	NM_000434.4(NEU1):c.62G>A (p.Gly21Asp)	NEU1 (G21D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194339	NM_000434.4(NEU1):c.59T>C (p.Leu20Pro)	NEU1 (L20P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3194330	NM_000434.4(NEU1):c.553C>T (p.Arg185Trp)	NEU1 (R185W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3194324	NM_000434.4(NEU1):c.181G>C (p.Glu61Gln)	NEU1 (E61Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3054013	NM_000434.4(NEU1):c.-8G>T	NEU1	Single nucleotide variant (5 prime UTR variant)	NEU1-related disorder	GLikely benign
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 3026737	NM_000434.4(NEU1):c.300del (p.Ser101fs)	NEU1 (S101fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3023194	NM_000434.4(NEU1):c.486C>G (p.Ala162=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020535	NM_000434.4(NEU1):c.1002C>T (p.Asn334=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015815	NM_000434.4(NEU1):c.1200C>T (p.Tyr400=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014667	NM_000434.4(NEU1):c.1039C>A (p.Arg347=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013889	NM_000434.4(NEU1):c.801C>T (p.Pro267=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010917	NM_000434.4(NEU1):c.868C>T (p.Arg290Ter)	NEU1 (R290*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3009941	NM_000434.4(NEU1):c.159+20del	NEU1	Deletion (intron variant)	not provided	GLikely benign
Select item 3009872	NM_000434.4(NEU1):c.735G>A (p.Gly245=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009294	NM_000434.4(NEU1):c.907A>C (p.Arg303=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001548	NM_000434.4(NEU1):c.1065A>G (p.Ser355=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995878	NM_000434.4(NEU1):c.1022-5C>G	NEU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994026	NM_000434.4(NEU1):c.1021+1G>A	NEU1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2993912	NM_000434.4(NEU1):c.228C>T (p.Thr76=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993606	NM_000434.4(NEU1):c.1119G>C (p.Leu373=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986403	NM_000434.4(NEU1):c.1191G>C (p.Arg397=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984664	NM_000434.4(NEU1):c.1022-20_1022-19insGGAGTGAACCTGG	NEU1	Insertion (intron variant)	not provided	GLikely benign
Select item 2983112	NM_000434.4(NEU1):c.986_987del (p.Ile329fs)	NEU1 (I329fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2979841	NM_000434.4(NEU1):c.160-7A>G	NEU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975797	NM_000434.4(NEU1):c.528T>C (p.Asp176=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974689	NM_000434.4(NEU1):c.648C>T (p.Ile216=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967885	NM_000434.4(NEU1):c.603C>T (p.Gly201=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967442	NM_000434.4(NEU1):c.30C>G (p.Leu10=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967133	NM_000434.4(NEU1):c.913del (p.Arg305fs)	NEU1 (R305fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2964430	NM_000434.4(NEU1):c.616-11C>A	NEU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958433	NM_000434.4(NEU1):c.1017G>A (p.Glu339=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956259	NM_000434.4(NEU1):c.1035C>T (p.Thr345=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919807	NM_000434.4(NEU1):c.375G>A (p.Ala125=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917270	NM_000434.4(NEU1):c.615+18T>C	NEU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916453	NM_000434.4(NEU1):c.825C>T (p.Val275=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913217	NM_000434.4(NEU1):c.564C>G (p.Ser188=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911754	NM_000434.4(NEU1):c.966T>C (p.Ala322=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910571	NM_000434.4(NEU1):c.928G>A (p.Asp310Asn)	NEU1 (D310N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2909982	NM_000434.4(NEU1):c.633G>A (p.Arg211=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909164	NM_000434.4(NEU1):c.666G>A (p.Thr222=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904329	NM_000434.4(NEU1):c.405T>C (p.Asp135=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901188	NM_000434.4(NEU1):c.285G>A (p.Glu95=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897976	NM_000434.4(NEU1):c.753C>T (p.Tyr251=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893596	NM_000434.4(NEU1):c.939C>T (p.Leu313=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890131	NM_000434.4(NEU1):c.1137C>T (p.Ser379=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888518	NM_000434.4(NEU1):c.957T>C (p.Ala319=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886895	NM_000434.4(NEU1):c.799-8C>T	NEU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869013	NM_000434.4(NEU1):c.273C>T (p.Leu91=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867370	NM_000434.4(NEU1):c.159+16C>T	NEU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865863	NM_000434.4(NEU1):c.353-17C>T	NEU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864480	NM_000434.4(NEU1):c.362G>A (p.Trp121Ter)	NEU1 (W121*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2864450	NM_000434.4(NEU1):c.799-15G>C	NEU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863951	NM_000434.4(NEU1):c.168G>T (p.Pro56=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863739	NM_000434.4(NEU1):c.160-13C>T	NEU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861129	NM_000434.4(NEU1):c.975C>G (p.Thr325=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853893	NM_000434.4(NEU1):c.15A>G (p.Arg5=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848549	NM_000434.4(NEU1):c.9G>C (p.Gly3=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847699	NM_000434.4(NEU1):c.837C>A (p.Ala279=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845072	NM_000434.4(NEU1):c.354C>G (p.Gly118=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839749	NM_000434.4(NEU1):c.353-9T>A	NEU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839423	NM_000434.4(NEU1):c.1161C>G (p.Pro387=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837806	NM_000434.4(NEU1):c.900T>C (p.Asp300=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836903	NM_000434.4(NEU1):c.615+1G>C	NEU1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2834746	NM_000434.4(NEU1):c.798+14G>C	NEU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832098	NM_000434.4(NEU1):c.276C>T (p.Ala92=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829706	NM_000434.4(NEU1):c.616-10T>C	NEU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820375	NM_000434.4(NEU1):c.1021+18G>C	NEU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818348	NM_000434.4(NEU1):c.1152G>A (p.Glu384=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816499	NM_000434.4(NEU1):c.798+15_798+18dup	NEU1	Duplication (intron variant)	not provided	GLikely benign
Select item 2815679	NM_000434.4(NEU1):c.616-16G>C	NEU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811604	NM_000434.4(NEU1):c.1015G>A (p.Glu339Lys)	NEU1 (E339K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807373	NM_000434.4(NEU1):c.1084C>T (p.Gln362Ter)	NEU1 (Q362*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2800816	NM_000434.4(NEU1):c.234C>A (p.Arg78=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800464	NM_000434.4(NEU1):c.294A>G (p.Lys98=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796999	NM_000434.4(NEU1):c.684C>T (p.Val228=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793513	NM_000434.4(NEU1):c.160-12C>T	NEU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791946	NM_000434.4(NEU1):c.1131G>A (p.Glu377=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791873	NM_000434.4(NEU1):c.93dup (p.Ala32fs)	NEU1 (A32fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2789227	NM_000434.4(NEU1):c.1125C>T (p.Thr375=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784512	NM_000434.4(NEU1):c.90G>A (p.Val30=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780920	NM_000434.4(NEU1):c.1158C>G (p.Ala386=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780145	NM_000434.4(NEU1):c.105C>T (p.Phe35=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780071	NM_000434.4(NEU1):c.352+1G>A	NEU1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2772955	NM_000434.4(NEU1):c.1041A>C (p.Arg347=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2771208	NM_000434.4(NEU1):c.813A>G (p.Pro271=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2770939	NM_000434.4(NEU1):c.616-13C>T	NEU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2764290	NM_000434.4(NEU1):c.616-10T>G	NEU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2761693	NM_000434.4(NEU1):c.799-16T>A	NEU1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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