7758[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 907823	NM_000434.4(NEU1):c.*644A>G	NEU1	Single nucleotide variant (3 prime UTR variant)	Sialidosis type 2	GUncertain significance
Select item 356223	NM_000434.4(NEU1):c.*596G>T	NEU1	Single nucleotide variant (3 prime UTR variant)	Sialidosis type 2	GUncertain significance
Select item 356224	NM_000434.4(NEU1):c.*581G>A	NEU1	Single nucleotide variant (3 prime UTR variant)	Sialidosis type 2	GBenign
Select item 356225	NM_000434.4(NEU1):c.*524C>T	NEU1	Single nucleotide variant (3 prime UTR variant)	Sialidosis type 2	GUncertain significance
Select item 356226	NM_000434.4(NEU1):c.*454A>G	NEU1	Single nucleotide variant (3 prime UTR variant)	Sialidosis type 2	GUncertain significance
Select item 356227	NM_000434.4(NEU1):c.*445T>G	NEU1	Single nucleotide variant (3 prime UTR variant)	Sialidosis type 2	GLikely benign
Select item 907824	NM_000434.4(NEU1):c.*294G>A	NEU1	Single nucleotide variant (3 prime UTR variant)	Sialidosis type 2	GUncertain significance
Select item 356228	NM_000434.4(NEU1):c.*269C>T	NEU1	Single nucleotide variant (3 prime UTR variant)	Sialidosis type 2	GUncertain significance
Select item 356229	NM_000434.4(NEU1):c.*210T>A	NEU1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 904514	NM_000434.4(NEU1):c.*180G>A	NEU1	Single nucleotide variant (3 prime UTR variant)	Sialidosis type 2	GUncertain significance
Select item 904515	NM_000434.4(NEU1):c.*69G>A	NEU1	Single nucleotide variant (3 prime UTR variant)	Sialidosis type 2	GUncertain significance
Select item 1508078	NM_000434.4(NEU1):c.1247G>C (p.Ter416Ser)	NEU1	Single nucleotide variant (stop lost)	not provided +1 more	GUncertain significance
Select item 784070	NM_000434.4(NEU1):c.1239G>A (p.Gly413=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 284472	NM_000434.4(NEU1):c.1230_1234delinsGCCAAA (p.Ser410fs)	NEU1 (S410fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 1605968	NM_000434.4(NEU1):c.1227C>T (p.Ile409=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 904516	NM_000434.4(NEU1):c.1217T>A (p.Val406Glu)	NEU1 (V406E)	Single nucleotide variant (missense variant)	Sialidosis type 2	GUncertain significance
Select item 2139224	NM_000434.4(NEU1):c.1216G>A (p.Val406Met)	NEU1 (V406M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 731151	NM_000434.4(NEU1):c.1215C>T (p.Ser405=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2445	NM_000434.4(NEU1):c.1208del (p.Ser403fs)	NEU1 (S403fs)	Deletion (frameshift variant)	Sialidosis type 2	GPathogenic
Select item 3015815	NM_000434.4(NEU1):c.1200C>T (p.Tyr400=)	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 966132	NM_000434.4(NEU1):c.1190G>A (p.Arg397Gln)	NEU1 (R397Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 904517	NM_000434.4(NEU1):c.1189C>T (p.Arg397Trp)	NEU1 (R397W)	Single nucleotide variant (missense variant)	Sialidosis type 2 +1 more	GUncertain significance
Select item 1585371	NM_000434.4(NEU1):c.1176G>A (p.Leu392=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	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 2054880	NM_000434.4(NEU1):c.1171G>A (p.Val391Ile)	NEU1 (V391I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 904518	NM_000434.4(NEU1):c.1170C>T (p.Tyr390=)	NEU1	Single nucleotide variant (synonymous variant)	Sialidosis type 2 +1 more	GConflicting classifications of pathogenicity
Select item 218332	NM_000434.4(NEU1):c.1170C>G (p.Tyr390Ter)	NEU1 (Y390*)	Single nucleotide variant (nonsense)	Non-immune hydrops fetalis +1 more	GPathogenic
Select item 744878	NM_000434.4(NEU1):c.1164G>A (p.Gln388=)	NEU1	Single nucleotide variant (synonymous 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 2248833	NM_000434.4(NEU1):c.1160C>G (p.Pro387Arg)	NEU1 (P387R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2780920	NM_000434.4(NEU1):c.1158C>G (p.Ala386=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1372421	NM_000434.4(NEU1):c.1154A>G (p.Gln385Arg)	NEU1 (Q385R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818348	NM_000434.4(NEU1):c.1152G>A (p.Glu384=)	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 2791946	NM_000434.4(NEU1):c.1131G>A (p.Glu377=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2443	NM_000434.4(NEU1):c.1129G>T (p.Glu377Ter)	NEU1 (E377*)	Single nucleotide variant (nonsense)	Sialidosis type 1	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 2993606	NM_000434.4(NEU1):c.1119G>C (p.Leu373=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 986732	NM_000434.4(NEU1):c.1109A>G (p.Tyr370Cys)	NEU1 (Y370C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 356230	NM_000434.4(NEU1):c.1107C>A (p.Gly369=)	NEU1	Single nucleotide variant (synonymous variant)	Sialidosis type 2 +1 more	GConflicting classifications of pathogenicity
Select item 2615318	NM_000434.4(NEU1):c.1097G>T (p.Gly366Val)	NEU1 (G366V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1518398	NM_000434.4(NEU1):c.1093C>G (p.Pro365Ala)	NEU1 (P365A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 904519	NM_000434.4(NEU1):c.1089A>G (p.Leu363=)	NEU1	Single nucleotide variant (synonymous variant)	Sialidosis type 2 +1 more	GConflicting classifications of pathogenicity
Select item 2447	NM_000434.4(NEU1):c.1088T>C (p.Leu363Pro)	NEU1 (L363P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2807373	NM_000434.4(NEU1):c.1084C>T (p.Gln362Ter)	NEU1 (Q362*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 970835	NM_000434.4(NEU1):c.1070G>A (p.Arg357Gln)	NEU1 (R357Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3001548	NM_000434.4(NEU1):c.1065A>G (p.Ser355=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1142782	NM_000434.4(NEU1):c.1065A>T (p.Ser355=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1654513	NM_000434.4(NEU1):c.1056T>C (p.Asn352=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2772955	NM_000434.4(NEU1):c.1041A>C (p.Arg347=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2735121	NM_000434.4(NEU1):c.1041A>T (p.Arg347=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 946980	NM_000434.4(NEU1):c.1040G>A (p.Arg347Gln)	NEU1 (R347Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3014667	NM_000434.4(NEU1):c.1039C>A (p.Arg347=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2734832	NM_000434.4(NEU1):c.1039C>T (p.Arg347Ter)	NEU1 (R347*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2956259	NM_000434.4(NEU1):c.1035C>T (p.Thr345=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 860957	NM_000434.4(NEU1):c.1034C>T (p.Thr345Ile)	NEU1 (T345I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2995878	NM_000434.4(NEU1):c.1022-5C>G	NEU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759032	NM_000434.4(NEU1):c.1022-15T>C	NEU1	Single nucleotide variant (intron 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 2820375	NM_000434.4(NEU1):c.1021+18G>C	NEU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1603854	NM_000434.4(NEU1):c.1021+15G>C	NEU1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1503495	NM_000434.4(NEU1):c.1021+4A>T	NEU1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2994026	NM_000434.4(NEU1):c.1021+1G>A	NEU1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2000058	NM_000434.4(NEU1):c.1021+1G>T	NEU1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2455	NM_000434.4(NEU1):c.1021+1G>C	NEU1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2691715	NM_000434.4(NEU1):c.1021C>G (p.Arg341Gly)	NEU1 (R341G)	Single nucleotide variant (missense variant)	Sialidosis	GLikely pathogenic
Select item 997915	NM_000434.4(NEU1):c.1021C>T (p.Arg341Ter)	NEU1 (R341*)	Single nucleotide variant (nonsense)	Sialidosis +2 more	GPathogenic/Likely pathogenic
Select item 2958433	NM_000434.4(NEU1):c.1017G>A (p.Glu339=)	NEU1	Single nucleotide variant (synonymous 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 2445712	NM_000434.4(NEU1):c.1004C>A (p.Pro335Gln)	NEU1 (P335Q)	Single nucleotide variant (missense variant)	Sialidosis +1 more	GPathogenic/Likely pathogenic
Select item 3020535	NM_000434.4(NEU1):c.1002C>T (p.Asn334=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 809893	NM_000434.4(NEU1):c.997T>C (p.Ser333Pro)	NEU1 (S333P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983112	NM_000434.4(NEU1):c.986_987del (p.Ile329fs)	NEU1 (I329fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1331449	NM_000434.4(NEU1):c.982G>A (p.Gly328Ser)	NEU1 (G328S)	Single nucleotide variant (missense variant)	Sialidosis +1 more	GPathogenic
Select item 2728582	NM_000434.4(NEU1):c.981C>T (p.Ser327=)	NEU1	Single nucleotide variant (synonymous 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 2421876	NM_000434.4(NEU1):c.968T>C (p.Val323Ala)	NEU1 (V323A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2911754	NM_000434.4(NEU1):c.966T>C (p.Ala322=)	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 1324798	NM_000434.4(NEU1):c.947del (p.Pro316fs)	NEU1 (P316fs)	Deletion (frameshift variant)	Sialidosis type 2	GLikely pathogenic
Select item 2454	NM_000434.4(NEU1):c.946C>T (p.Pro316Ser)	NEU1 (P316S)	Single nucleotide variant (missense variant)	Sialidosis type 1	GPathogenic
Select item 2893596	NM_000434.4(NEU1):c.939C>T (p.Leu313=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2740453	NM_000434.4(NEU1):c.936G>A (p.Glu312=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 435973	NM_000434.4(NEU1):c.934G>A (p.Glu312Lys)	NEU1 (E312K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1314035	NM_000434.4(NEU1):c.932C>G (p.Pro311Arg)	NEU1 (P311R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 3340093	NM_000434.4(NEU1):c.914G>T (p.Arg305Leu)	NEU1 (R305L)	Single nucleotide variant (missense variant)	Sialidosis type 2	GUncertain significance
Select item 809894	NM_000434.4(NEU1):c.914G>A (p.Arg305His)	NEU1 (R305H)	Single nucleotide variant (missense variant)	Sialidosis type 2 +2 more	GUncertain significance
Select item 2967133	NM_000434.4(NEU1):c.913del (p.Arg305fs)	NEU1 (R305fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2734833	NM_000434.4(NEU1):c.913C>T (p.Arg305Cys)	NEU1 (R305C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1041533	NM_000434.4(NEU1):c.911C>T (p.Pro304Leu)	NEU1 (P304L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009294	NM_000434.4(NEU1):c.907A>C (p.Arg303=)	NEU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2040993	NM_000434.4(NEU1):c.904C>G (p.Leu302Val)	NEU1 (L302V)	Single nucleotide variant (missense 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 2457	NM_000434.4(NEU1):c.893C>T (p.Ala298Val)	NEU1 (A298V)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 1364695	NM_000434.4(NEU1):c.889G>A (p.Asp297Asn)	NEU1 (D297N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 356231	NM_000434.4(NEU1):c.888T>C (p.Tyr296=)	NEU1	Single nucleotide variant (synonymous variant)	Sialidosis type 2 +1 more	GConflicting classifications of pathogenicity

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