ClinVar for MedGen (Select 924303) - ClinVar

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Items: 60

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24343281.	NM_000434.4(NEU1):c.539C>G (p.Ser180Cys) GRCh37: Chr6:31829041 GRCh38: Chr6:31861264	NEU1	S180C	Sialidosis type 2	Uncertain significance (Mar 12, 2020)	criteria provided, single submitter
Select item 18021702.	NM_000434.4(NEU1):c.[353-11A>G];[541T>C]			Sialidosis type 2	Likely pathogenic (Dec 8, 2022)	criteria provided, single submitter
Select item 15080783.	NM_000434.4(NEU1):c.1247G>C (p.Ter416Ser) GRCh37: Chr6:31827497 GRCh38: Chr6:31859720	NEU1		not provided, Sialidosis type 2	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13328064.	NM_000434.4(NEU1):c.887A>G (p.Tyr296Cys) GRCh37: Chr6:31827953 GRCh38: Chr6:31860176	NEU1	Y296C	Sialidosis type 2	Likely pathogenic	criteria provided, single submitter
Select item 13247995.	NM_000434.4(NEU1):c.238C>A (p.Pro80Thr) GRCh37: Chr6:31829890 GRCh38: Chr6:31862113	NEU1	P80T	Sialidosis type 2	Likely pathogenic (Mar 2, 2020)	criteria provided, single submitter
Select item 13247986.	NM_000434.4(NEU1):c.947del (p.Pro316fs) GRCh37: Chr6:31827893 GRCh38: Chr6:31860116	NEU1	P316fs	Sialidosis type 2	Likely pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 9979157.	NM_000434.4(NEU1):c.1021C>T (p.Arg341Ter) GRCh37: Chr6:31827819 GRCh38: Chr6:31860042	NEU1	R341*	Sialidosis type 2, Sialidosis	Pathogenic/Likely pathogenic (Apr 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9867328.	NM_000434.4(NEU1):c.1109A>G (p.Tyr370Cys) GRCh37: Chr6:31827635 GRCh38: Chr6:31859858	NEU1	Y370C	not provided, Sialidosis type 2	Pathogenic/Likely pathogenic (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9078249.	NM_000434.4(NEU1):c.*294G>A GRCh37: Chr6:31827202 GRCh38: Chr6:31859425	NEU1		Sialidosis type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90782310.	NM_000434.4(NEU1):c.*644A>G GRCh37: Chr6:31826852 GRCh38: Chr6:31859075	NEU1		Sialidosis type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90690511.	NM_000434.4(NEU1):c.-42T>C GRCh37: Chr6:31830595 GRCh38: Chr6:31862818	NEU1		Sialidosis type 2	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90690412.	NM_000434.4(NEU1):c.249A>C (p.Thr83=) GRCh37: Chr6:31829879 GRCh38: Chr6:31862102	NEU1		not provided, Sialidosis type 2	Conflicting interpretations of pathogenicity (Jun 28, 2022)	criteria provided, conflicting interpretations
Select item 90530313.	NM_000434.4(NEU1):c.742G>A (p.Gly248Ser) GRCh37: Chr6:31828272 GRCh38: Chr6:31860495	NEU1	G248S	not provided, Sialidosis type 2	Uncertain significance (Jun 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90530214.	NM_000434.4(NEU1):c.826G>A (p.Val276Ile) GRCh37: Chr6:31828014 GRCh38: Chr6:31860237	NEU1	V276I	Sialidosis type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90451915.	NM_000434.4(NEU1):c.1089A>G (p.Leu363=) GRCh37: Chr6:31827655 GRCh38: Chr6:31859878	NEU1		Sialidosis type 2	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 90451816.	NM_000434.4(NEU1):c.1170C>T (p.Tyr390=) GRCh37: Chr6:31827574 GRCh38: Chr6:31859797	NEU1		not provided, Sialidosis type 2	Conflicting interpretations of pathogenicity (Jun 23, 2021)	criteria provided, conflicting interpretations
Select item 90451717.	NM_000434.4(NEU1):c.1189C>T (p.Arg397Trp) GRCh37: Chr6:31827555 GRCh38: Chr6:31859778	NEU1	R397W	not provided, Sialidosis type 2	Uncertain significance (Oct 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90451618.	NM_000434.4(NEU1):c.1217T>A (p.Val406Glu) GRCh37: Chr6:31827527 GRCh38: Chr6:31859750	NEU1	V406E	Sialidosis type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90451519.	NM_000434.4(NEU1):c.*69G>A GRCh37: Chr6:31827427 GRCh38: Chr6:31859650	NEU1		Sialidosis type 2	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90451420.	NM_000434.4(NEU1):c.*180G>A GRCh37: Chr6:31827316 GRCh38: Chr6:31859539	NEU1		Sialidosis type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87039121.	GRCh37/hg19 6p21.33(chr6:31824828-31834398) GRCh37: Chr6:31824828-31834398	NEU1, SLC44A4		Sialidosis type 2	Pathogenic (Aug 10, 2018)	criteria provided, single submitter
Select item 80989422.	NM_000434.4(NEU1):c.914G>A (p.Arg305His) GRCh37: Chr6:31827926 GRCh38: Chr6:31860149	NEU1	R305H	not specified, not provided, Sialidosis type 2	Uncertain significance (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 71831623.	NM_000434.4(NEU1):c.402C>T (p.Pro134=) GRCh37: Chr6:31829178 GRCh38: Chr6:31861401	NEU1		Sialidosis type 2, not provided	Conflicting interpretations of pathogenicity (Sep 12, 2022)	criteria provided, conflicting interpretations
Select item 71669124.	NM_000434.4(NEU1):c.432C>T (p.Ser144=) GRCh37: Chr6:31829148 GRCh38: Chr6:31861371	NEU1		not provided, Sialidosis type 2	Conflicting interpretations of pathogenicity (Aug 2, 2022)	criteria provided, conflicting interpretations
Select item 63197725.	NM_000434.4(NEU1):c.45G>A (p.Trp15Ter) GRCh37: Chr6:31830509 GRCh38: Chr6:31862732	NEU1	W15*	not provided, Sialidosis type 2, Sialidosis	Conflicting interpretations of pathogenicity (Apr 18, 2022)	criteria provided, conflicting interpretations
Select item 55902226.	NM_000434.4(NEU1):c.408G>A (p.Gly136=) GRCh37: Chr6:31829172 GRCh38: Chr6:31861395	NEU1		not provided, Sialidosis type 2	Conflicting interpretations of pathogenicity (Sep 29, 2022)	criteria provided, conflicting interpretations
Select item 49924427.	NM_000434.4(NEU1):c.615G>A (p.Gln205=) GRCh37: Chr6:31828965 GRCh38: Chr6:31861188	NEU1		not provided, Sialidosis type 2	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 43034228.	NM_000434.4(NEU1):c.679G>A (p.Gly227Arg) GRCh37: Chr6:31828335 GRCh38: Chr6:31860558	NEU1	G227R	Sialidosis, Sialidosis type 2, not provided	Pathogenic (Sep 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 35623929.	NM_000434.3(NEU1):c.-76C>G GRCh37: Chr6:31830629 GRCh38: Chr6:31862852	NEU1		Sialidosis type 2	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35623830.	NM_000434.3(NEU1):c.-49C>T GRCh37: Chr6:31830602 GRCh38: Chr6:31862825	NEU1		Sialidosis type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35623731.	NM_000434.4(NEU1):c.-40T>G GRCh37: Chr6:31830593 GRCh38: Chr6:31862816	NEU1		Sialidosis type 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35623632.	NM_000434.4(NEU1):c.-13G>A GRCh37: Chr6:31830566 GRCh38: Chr6:31862789	NEU1		Sialidosis type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35623533.	NM_000434.4(NEU1):c.122C>A (p.Ala41Glu) GRCh37: Chr6:31830432 GRCh38: Chr6:31862655	NEU1	A41E	Sialidosis type 2	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35623434.	NM_000434.4(NEU1):c.474T>G (p.Cys158Trp) GRCh37: Chr6:31829106 GRCh38: Chr6:31861329	NEU1	C158W	Sialidosis type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35623335.	NM_000434.4(NEU1):c.486C>T (p.Ala162=) GRCh37: Chr6:31829094 GRCh38: Chr6:31861317	NEU1		not provided, Sialidosis type 2	Benign/Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35623236.	NM_000434.4(NEU1):c.799-4T>C GRCh37: Chr6:31828045 GRCh38: Chr6:31860268	NEU1		not provided, Sialidosis type 2	Conflicting interpretations of pathogenicity (Feb 11, 2022)	criteria provided, conflicting interpretations
Select item 35623137.	NM_000434.4(NEU1):c.888T>C (p.Tyr296=) GRCh37: Chr6:31827952 GRCh38: Chr6:31860175	NEU1		not provided, Sialidosis type 2	Conflicting interpretations of pathogenicity (Mar 15, 2022)	criteria provided, conflicting interpretations
Select item 35623038.	NM_000434.4(NEU1):c.1107C>A (p.Gly369=) GRCh37: Chr6:31827637 GRCh38: Chr6:31859860	NEU1		not provided, Sialidosis type 2	Conflicting interpretations of pathogenicity (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 35622939.	NM_000434.4(NEU1):c.*210T>A GRCh37: Chr6:31827286 GRCh38: Chr6:31859509	NEU1		not provided, Sialidosis type 2	Benign (Dec 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 35622840.	NM_000434.4(NEU1):c.*269C>T GRCh37: Chr6:31827227 GRCh38: Chr6:31859450	NEU1		Sialidosis type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35622741.	NM_000434.4(NEU1):c.*445T>G GRCh37: Chr6:31827051 GRCh38: Chr6:31859274	NEU1		Sialidosis type 2	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35622642.	NM_000434.4(NEU1):c.*454A>G GRCh37: Chr6:31827042 GRCh38: Chr6:31859265	NEU1		Sialidosis type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35622543.	NM_000434.4(NEU1):c.*524C>T GRCh37: Chr6:31826972 GRCh38: Chr6:31859195	NEU1		Sialidosis type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35622444.	NM_000434.4(NEU1):c.*581G>A GRCh37: Chr6:31826915 GRCh38: Chr6:31859138	NEU1		Sialidosis type 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35622345.	NM_000434.4(NEU1):c.*596G>T GRCh37: Chr6:31826900 GRCh38: Chr6:31859123	NEU1		Sialidosis type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 28917546.	NM_000434.4(NEU1):c.263G>C (p.Gly88Ala) GRCh37: Chr6:31829865 GRCh38: Chr6:31862088	NEU1	G88A	not provided, not specified, Sialidosis type 2	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21833247.	NM_000434.4(NEU1):c.1170C>G (p.Tyr390Ter) GRCh37: Chr6:31827574 GRCh38: Chr6:31859797	NEU1	Y390*	Non-immune hydrops fetalis, Sialidosis type 2	Pathogenic (Jun 22, 2014)	no assertion criteria provided
Select item 21833148.	NM_000434.4(NEU1):c.353-2A>G GRCh37: Chr6:31829229 GRCh38: Chr6:31861452	NEU1		Non-immune hydrops fetalis, Sialidosis type 2	Pathogenic (Jun 22, 2014)	no assertion criteria provided
Select item 245849.	NM_000434.4(NEU1):c.69G>A (p.Trp23Ter) GRCh37: Chr6:31830485 GRCh38: Chr6:31862708	NEU1	W23*	Sialidosis type 2	Pathogenic (Jan 1, 2004)	no assertion criteria provided
Select item 245750.	NM_000434.4(NEU1):c.893C>T (p.Ala298Val) GRCh37: Chr6:31827947 GRCh38: Chr6:31860170	NEU1	A298V	Sialidosis, not provided, Sialidosis type 2	Likely pathogenic (Jul 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 245651.	NM_000434.4(NEU1):c.674G>C (p.Arg225Pro) GRCh37: Chr6:31828340 GRCh38: Chr6:31860563	NEU1	R225P	Sialidosis type 2	Pathogenic (Jan 1, 2004)	no assertion criteria provided
Select item 245552.	NM_000434.4(NEU1):c.1021+1G>C GRCh37: Chr6:31827818 GRCh38: Chr6:31860041	NEU1		not provided	Pathogenic (Oct 6, 2022)	criteria provided, single submitter
Select item 245353.	NM_000434.4(NEU1):c.718T>C (p.Trp240Arg) GRCh37: Chr6:31828296 GRCh38: Chr6:31860519	NEU1	W240R	Sialidosis type 2	Pathogenic (Jan 1, 2002)	no assertion criteria provided
Select item 245254.	NM_000434.4(NEU1):c.239C>T (p.Pro80Leu) GRCh37: Chr6:31829889 GRCh38: Chr6:31862112	NEU1	P80L	Sialidosis type 2	Pathogenic (Jan 1, 2002)	no assertion criteria provided
Select item 245155.	NM_000434.4(NEU1):c.87G>A (p.Trp29Ter) GRCh37: Chr6:31830467 GRCh38: Chr6:31862690	NEU1	W29*	Sialidosis type 2	Pathogenic (Oct 1, 2001)	no assertion criteria provided
Select item 244856.	NM_000434.4(NEU1):c.625del (p.Glu209fs) GRCh37: Chr6:31828389 GRCh38: Chr6:31860612	NEU1	E209fs	Sialidosis type 2	Pathogenic (Apr 12, 2000)	no assertion criteria provided
Select item 244757.	NM_000434.4(NEU1):c.1088T>C (p.Leu363Pro) GRCh37: Chr6:31827656 GRCh38: Chr6:31859879	NEU1	L363P	Sialidosis type 2	Pathogenic (Mar 1, 1997)	no assertion criteria provided
Select item 244658.	NM_000434.4(NEU1):c.779T>A (p.Phe260Tyr) GRCh37: Chr6:31828235 GRCh38: Chr6:31860458	NEU1	F260Y	not provided	Pathogenic (Oct 6, 2022)	criteria provided, single submitter
Select item 244559.	NM_000434.4(NEU1):c.1208del (p.Ser403fs) GRCh37: Chr6:31827536 GRCh38: Chr6:31859759	NEU1	S403fs	Sialidosis type 2	Pathogenic (Aug 15, 2018)	no assertion criteria provided
Select item 244460.	NM_000434.4(NEU1):c.272T>G (p.Leu91Arg) GRCh37: Chr6:31829856 GRCh38: Chr6:31862079	NEU1	L91R	Sialidosis type 2	Pathogenic (Aug 15, 2018)	no assertion criteria provided

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Items: 60