ClinVar for MedGen (Select 1804175) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065520	NM_133372.3(FNIP1):c.454C>G (p.Arg152Gly)	FNIP1 (R107G +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 93 and hypertrophic cardiomyopathy	GLikely pathogenic
Select item 1335875	NC_000005.9:g.(?_130766131)_(131044371_131044893)del	FNIP1, RAPGEF6	Deletion	Immunodeficiency 93 and hypertrophic cardiomyopathy	GPathogenic
Select item 1335874	NM_133372.3(FNIP1):c.3306+1G>A	FNIP1	Single nucleotide variant (splice donor variant)	Immunodeficiency 93 and hypertrophic cardiomyopathy	GPathogenic
Select item 1335873	NM_133372.3(FNIP1):c.868C>T (p.Arg290Ter)	FNIP1 (R290* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1335872	NM_133372.3(FNIP1):c.3218del (p.Leu1073fs)	FNIP1 (L1028fs +2 more)	Deletion (frameshift variant)	Immunodeficiency 93 and hypertrophic cardiomyopathy	GPathogenic
Select item 1335871	NM_133372.3(FNIP1):c.1289del (p.His430fs)	FNIP1 (H385fs +2 more)	Deletion (frameshift variant)	Immunodeficiency 93 and hypertrophic cardiomyopathy	GPathogenic
Select item 1335870	NM_133372.3(FNIP1):c.3353G>A (p.Ser1118Asn)	FNIP1 (S1118N +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 93 and hypertrophic cardiomyopathy	GPathogenic

ClinVar