ClinVar for MedGen (Select 208651) - ClinVar - NCBI

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Items: 14

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25065391.	GRCh37/hg19 5q31.1(chr5:133956623-133959709) GRCh37: Chr5:133956623-133959709	SAR1B		Chylomicron retention disease	Likely pathogenic (May 26, 2023)	criteria provided, single submitter
Select item 13250332.	NM_016103.4(SAR1B):c.247C>T (p.Arg83Ter) GRCh37: Chr5:133945362 GRCh38: Chr5:134609672	SAR1B	R83*	Chylomicron retention disease, not provided	Pathogenic/Likely pathogenic (Apr 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12360793.	NM_016103.4(SAR1B):c.480+18del GRCh37: Chr5:133944044 GRCh38: Chr5:134608354	SAR1B		Chylomicron retention disease, not provided	Benign (Feb 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11708124.	NM_016103.4(SAR1B):c.133C>T (p.Leu45=) GRCh37: Chr5:133956668 GRCh38: Chr5:134620978	SAR1B		not provided, Chylomicron retention disease	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11622615.	NM_016356.5(DCDC2):c.346G>T (p.Glu116Ter) GRCh37: Chr6:24353799 GRCh38: Chr6:24353571	DCDC2	E116*	Chylomicron retention disease	Pathogenic	criteria provided, single submitter
Select item 5223466.	NM_016103.4(SAR1B):c.280A>C (p.Asn94His) GRCh37: Chr5:133945329 GRCh38: Chr5:134609639	SAR1B	N94H	Chylomicron retention disease	Uncertain significance (Jun 28, 2017)	criteria provided, single submitter
Select item 29297.	NM_016103.4(SAR1B):c.554G>T (p.Gly185Val) GRCh37: Chr5:133942683 GRCh38: Chr5:134606993	SAR1B	G185V	Chylomicron retention disease	Pathogenic (Jan 18, 2022)	criteria provided, single submitter
Select item 29288.	NM_016103.4(SAR1B):c.364G>T (p.Glu122Ter) GRCh37: Chr5:133944178 GRCh38: Chr5:134608488	SAR1B	E122*	Chylomicron retention disease	Pathogenic (Jan 1, 2008)	no assertion criteria provided
Select item 29279.	NM_016103.4(SAR1B):c.349-1G>C GRCh37: Chr5:133944194 GRCh38: Chr5:134608504	SAR1B		Chylomicron retention disease	Pathogenic (Mar 1, 2007)	no assertion criteria provided
Select item 292610.	NM_016103.4(SAR1B):c.555_558dup (p.Gly187fs) GRCh37: Chr5:133942678-133942679 GRCh38: Chr5:134606988-134606989	SAR1B	G187fs	Chylomicron retention disease	Pathogenic (May 1, 2003)	no assertion criteria provided
Select item 292511.	NM_016103.4(SAR1B):c.537T>A (p.Ser179Arg) GRCh37: Chr5:133942700 GRCh38: Chr5:134607010	SAR1B	S179R	Chylomicron retention disease	Pathogenic (Jan 1, 2008)	no assertion criteria provided
Select item 292412.	NM_016103.4(SAR1B):c.75_76del (p.Thr25_Gly26insTer) GRCh37: Chr5:133956725-133956726 GRCh38: Chr5:134621035-134621036	SAR1B		Chylomicron retention disease	Pathogenic (May 1, 2003)	no assertion criteria provided
Select item 292313.	NM_016103.4(SAR1B):c.409G>A (p.Asp137Asn) GRCh37: Chr5:133944133 GRCh38: Chr5:134608443	SAR1B	D137N	not provided, Chylomicron retention disease	Pathogenic/Likely pathogenic (Feb 19, 2020)	criteria provided, multiple submitters, no conflicts
Select item 292214.	NM_016103.4(SAR1B):c.109G>A (p.Gly37Arg) GRCh37: Chr5:133956692 GRCh38: Chr5:134621002	SAR1B	G37R	Chylomicron retention disease	Pathogenic (May 1, 2003)	no assertion criteria provided