ClinVar for MedGen (Select 924303) - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434328	NM_000434.4(NEU1):c.539C>G (p.Ser180Cys)	NEU1 (S180C)	Single nucleotide variant (missense variant)	Sialidosis type 2	GUncertain significance
Select item 1802170	NM_000434.4(NEU1):c.[353-11A>G];[541T>C]			Sialidosis type 2	GLikely pathogenic
Select item 1508078	NM_000434.4(NEU1):c.1247G>C (p.Ter416Ser)	NEU1	Single nucleotide variant (stop lost)	Sialidosis type 2 +1 more	GUncertain significance
Select item 1332806	NM_000434.4(NEU1):c.887A>G (p.Tyr296Cys)	NEU1 (Y296C)	Single nucleotide variant (missense variant)	Sialidosis type 2	GLikely pathogenic
Select item 1324799	NM_000434.4(NEU1):c.238C>A (p.Pro80Thr)	NEU1 (P80T)	Single nucleotide variant (missense variant)	Sialidosis type 2	GLikely pathogenic
Select item 1324798	NM_000434.4(NEU1):c.947del (p.Pro316fs)	NEU1 (P316fs)	Deletion (frameshift variant)	Sialidosis type 2	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 986732	NM_000434.4(NEU1):c.1109A>G (p.Tyr370Cys)	NEU1 (Y370C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 907823	NM_000434.4(NEU1):c.*644A>G	NEU1	Single nucleotide variant (3 prime UTR variant)	Sialidosis type 2	GUncertain significance
Select item 906905	NM_000434.4(NEU1):c.-42T>C	NEU1	Single nucleotide variant (5 prime UTR variant)	Sialidosis type 2	GUncertain significance
Select item 906904	NM_000434.4(NEU1):c.249A>C (p.Thr83=)	NEU1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 905303	NM_000434.4(NEU1):c.742G>A (p.Gly248Ser)	NEU1 (G248S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 905302	NM_000434.4(NEU1):c.826G>A (p.Val276Ile)	NEU1 (V276I)	Single nucleotide variant (missense variant)	Sialidosis type 2	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 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 904517	NM_000434.4(NEU1):c.1189C>T (p.Arg397Trp)	NEU1 (R397W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 904515	NM_000434.4(NEU1):c.*69G>A	NEU1	Single nucleotide variant (3 prime UTR variant)	Sialidosis type 2	GUncertain significance
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 870391	GRCh37/hg19 6p21.33(chr6:31824828-31834398)	NEU1, SLC44A4	Copy number loss	Sialidosis type 2	GPathogenic
Select item 809894	NM_000434.4(NEU1):c.914G>A (p.Arg305His)	NEU1 (R305H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 718316	NM_000434.4(NEU1):c.402C>T (p.Pro134=)	NEU1	Single nucleotide variant (synonymous variant)	Sialidosis type 2 +1 more	GConflicting classifications of pathogenicity
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 631977	NM_000434.4(NEU1):c.45G>A (p.Trp15Ter)	NEU1 (W15*)	Single nucleotide variant (nonsense)	Sialidosis +2 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 499244	NM_000434.4(NEU1):c.615G>A (p.Gln205=)	NEU1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 430342	NM_000434.4(NEU1):c.679G>A (p.Gly227Arg)	NEU1 (G227R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 356239	NM_000434.3(NEU1):c.-76C>G	NEU1	Single nucleotide variant	Sialidosis type 2	GLikely benign
Select item 356238	NM_000434.3(NEU1):c.-49C>T	NEU1	Single nucleotide variant	Sialidosis type 2	GUncertain significance
Select item 356237	NM_000434.4(NEU1):c.-40T>G	NEU1	Single nucleotide variant (5 prime UTR variant)	Sialidosis type 2	GBenign
Select item 356236	NM_000434.4(NEU1):c.-13G>A	NEU1	Single nucleotide variant (5 prime UTR variant)	Sialidosis type 2	GUncertain significance
Select item 356235	NM_000434.4(NEU1):c.122C>A (p.Ala41Glu)	NEU1 (A41E)	Single nucleotide variant (missense variant)	Sialidosis type 2	GUncertain significance
Select item 356234	NM_000434.4(NEU1):c.474T>G (p.Cys158Trp)	NEU1 (C158W)	Single nucleotide variant (missense variant)	Sialidosis type 2	GUncertain significance
Select item 356233	NM_000434.4(NEU1):c.486C>T (p.Ala162=)	NEU1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 356232	NM_000434.4(NEU1):c.799-4T>C	NEU1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356231	NM_000434.4(NEU1):c.888T>C (p.Tyr296=)	NEU1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356230	NM_000434.4(NEU1):c.1107C>A (p.Gly369=)	NEU1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 356228	NM_000434.4(NEU1):c.*269C>T	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 356226	NM_000434.4(NEU1):c.*454A>G	NEU1	Single nucleotide variant (3 prime UTR variant)	Sialidosis type 2	GUncertain significance
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 356224	NM_000434.4(NEU1):c.*581G>A	NEU1	Single nucleotide variant (3 prime UTR variant)	Sialidosis type 2	GBenign
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 289175	NM_000434.4(NEU1):c.263G>C (p.Gly88Ala)	NEU1 (G88A)	Single nucleotide variant (missense variant)	Sialidosis type 2 +2 more	GBenign
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 218331	NM_000434.4(NEU1):c.353-2A>G	NEU1	Single nucleotide variant (splice acceptor variant)	Non-immune hydrops fetalis +1 more	GPathogenic
Select item 2458	NM_000434.4(NEU1):c.69G>A (p.Trp23Ter)	NEU1 (W23*)	Single nucleotide variant (nonsense)	NEU1-related condition +1 more	GPathogenic
Select item 2457	NM_000434.4(NEU1):c.893C>T (p.Ala298Val)	NEU1 (A298V)	Single nucleotide variant (missense variant)	Sialidosis +2 more	GLikely pathogenic
Select item 2456	NM_000434.4(NEU1):c.674G>C (p.Arg225Pro)	NEU1 (R225P)	Single nucleotide variant (missense variant)	Sialidosis type 2	GPathogenic
Select item 2455	NM_000434.4(NEU1):c.1021+1G>C	NEU1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2453	NM_000434.4(NEU1):c.718T>C (p.Trp240Arg)	NEU1 (W240R)	Single nucleotide variant (missense variant)	Sialidosis type 2	GPathogenic
Select item 2452	NM_000434.4(NEU1):c.239C>T (p.Pro80Leu)	NEU1 (P80L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2451	NM_000434.4(NEU1):c.87G>A (p.Trp29Ter)	NEU1 (W29*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2448	NM_000434.4(NEU1):c.625del (p.Glu209fs)	NEU1 (E209fs)	Deletion (frameshift variant)	Sialidosis type 2	GPathogenic
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 2446	NM_000434.4(NEU1):c.779T>A (p.Phe260Tyr)	NEU1 (F260Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2445	NM_000434.4(NEU1):c.1208del (p.Ser403fs)	NEU1 (S403fs)	Deletion (frameshift variant)	Sialidosis type 2	GPathogenic
Select item 2444	NM_000434.4(NEU1):c.272T>G (p.Leu91Arg)	NEU1 (L91R)	Single nucleotide variant (missense variant)	Sialidosis type 2	GPathogenic

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Links from MedGen

Items: 60