ClinVar for MedGen (Select 98483) - ClinVar - NCBI

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Items: 13

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24418091.	NM_014754.3(PTDSS1):c.686G>A (p.Gly229Asp) GRCh37: Chr8:97312007 GRCh38: Chr8:96299779	PTDSS1	G229D, G83D	Lenz-Majewski hyperostosis syndrome	Uncertain significance (Dec 15, 2022)	criteria provided, single submitter
Select item 24352772.	NM_014754.3(PTDSS1):c.1404T>A (p.Asn468Lys) GRCh37: Chr8:97345776 GRCh38: Chr8:96333548	PTDSS1	N322K, N468K	Lenz-Majewski hyperostosis syndrome	Uncertain significance (Oct 1, 2021)	criteria provided, single submitter
Select item 12791873.	NM_014754.3(PTDSS1):c.1242+27A>G GRCh37: Chr8:97342536 GRCh38: Chr8:96330308	PTDSS1		Lenz-Majewski hyperostosis syndrome, not provided	Benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12784684.	NM_014754.3(PTDSS1):c.1073+48T>A GRCh37: Chr8:97321898 GRCh38: Chr8:96309670	PTDSS1		Lenz-Majewski hyperostosis syndrome, not provided	Benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12738205.	NM_014754.3(PTDSS1):c.1312+12_1312+17del GRCh37: Chr8:97343327-97343332 GRCh38: Chr8:96331099-96331104	PTDSS1		Lenz-Majewski hyperostosis syndrome, not provided	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10278896.	NM_014754.3(PTDSS1):c.848C>T (p.Ser283Phe) GRCh37: Chr8:97316363 GRCh38: Chr8:96304135	PTDSS1	S137F, S283F	Lenz-Majewski hyperostosis syndrome	Likely pathogenic (Jan 2, 2019)	criteria provided, single submitter
Select item 9305837.	NM_014754.3(PTDSS1):c.247A>C (p.Ile83Leu) GRCh37: Chr8:97285594 GRCh38: Chr8:96273366	PTDSS1	I83L	Lenz-Majewski hyperostosis syndrome	Uncertain significance (Oct 3, 2019)	criteria provided, single submitter
Select item 8024268.	NM_014754.3(PTDSS1):c.953C>T (p.Pro318Leu) GRCh37: Chr8:97318730 GRCh38: Chr8:96306502	PTDSS1	P172L, P318L	Lenz-Majewski hyperostosis syndrome	Uncertain significance (May 28, 2019)	criteria provided, single submitter
Select item 8007509.	NM_014754.3(PTDSS1):c.932T>G (p.Phe311Cys) GRCh37: Chr8:97318709 GRCh38: Chr8:96306481	PTDSS1	F165C, F311C	Lenz-Majewski hyperostosis syndrome	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 42951910.	NM_014754.3(PTDSS1):c.284G>A (p.Arg95Gln) GRCh37: Chr8:97296349 GRCh38: Chr8:96284121	PTDSS1	R95Q	Lenz-Majewski hyperostosis syndrome, not provided	Conflicting interpretations of pathogenicity (Dec 18, 2019)	criteria provided, conflicting interpretations
Select item 9703611.	NM_014754.3(PTDSS1):c.794T>C (p.Leu265Pro) GRCh37: Chr8:97316309 GRCh38: Chr8:96304081	PTDSS1	L265P, L119P	Lenz-Majewski hyperostosis syndrome	Pathogenic (Jan 1, 2014)	no assertion criteria provided
Select item 9703512.	NM_014754.3(PTDSS1):c.805C>T (p.Pro269Ser) GRCh37: Chr8:97316320 GRCh38: Chr8:96304092	PTDSS1	P269S, P123S	Lenz-Majewski hyperostosis syndrome	Pathogenic (Jan 1, 2014)	no assertion criteria provided
Select item 9703413.	NM_014754.3(PTDSS1):c.1058A>G (p.Gln353Arg) GRCh37: Chr8:97321835 GRCh38: Chr8:96309607	PTDSS1	Q353R, Q207R	Lenz-Majewski hyperostosis syndrome	Pathogenic	criteria provided, single submitter