ClinVar for MedGen (Select 862706) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 11809611.	NM_153485.3(NUP155):c.201G>A (p.Leu67=) GRCh37: Chr5:37364443 GRCh38: Chr5:37364341	NUP155		Atrial fibrillation, familial, 15, not provided	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10325042.	NM_153485.3(NUP155):c.3226C>T (p.Arg1076Cys) GRCh37: Chr5:37303453 GRCh38: Chr5:37303351	NUP155	R1017C, R1076C, R1012C	Atrial fibrillation, familial, 15	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 8706083.	NM_153485.3(NUP155):c.1204G>A (p.Val402Met) GRCh37: Chr5:37341234 GRCh38: Chr5:37341132	NUP155	V343M, V402M	Atrial fibrillation, familial, 15	Uncertain significance (Apr 11, 2020)	criteria provided, single submitter
Select item 1271424.	NM_153485.3(NUP155):c.1172G>A (p.Arg391His) GRCh37: Chr5:37341266 GRCh38: Chr5:37341164	NUP155	R391H, R332H	Atrial fibrillation, familial, 15	Pathogenic (Dec 12, 2008)	no assertion criteria provided

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