ClinVar for MedGen (Select 356065) - ClinVar - NCBI

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Items: 10

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16834241.	NM_004928.3(CFAP410):c.642+2T>C GRCh37: Chr21:45750704 GRCh38: Chr21:44330821	CFAP410	V214A	Axial spondylometaphyseal dysplasia	Pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 8122342.	NM_004928.3(CFAP410):c.643-1G>C GRCh37: Chr21:45750210 GRCh38: Chr21:44330327	CFAP410		Axial spondylometaphyseal dysplasia	Pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 4285823.	NM_004928.3(CFAP410):c.331G>A (p.Val111Met) GRCh37: Chr21:45752958 GRCh38: Chr21:44333075	CFAP410	V111M, V70M	Retinal dystrophy, not provided	Pathogenic (Sep 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4285814.	NM_004928.3(CFAP410):c.347C>T (p.Pro116Leu) GRCh37: Chr21:45752942 GRCh38: Chr21:44333059	CFAP410	P116L, P75L	not provided	Likely pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 4285805.	NM_004928.3(CFAP410):c.319T>C (p.Tyr107His) GRCh37: Chr21:45752970 GRCh38: Chr21:44333087	CFAP410	Y107H, Y66H	Retinal dystrophy with or without macular staphyloma, Axial spondylometaphyseal dysplasia	Pathogenic (Jul 17, 2018)	no assertion criteria provided
Select item 4285796.	NM_004928.3(CFAP410):c.643-23A>T GRCh37: Chr21:45750232 GRCh38: Chr21:44330349	CFAP410		Axial spondylometaphyseal dysplasia	Pathogenic (Sep 9, 2019)	criteria provided, single submitter
Select item 4285787.	NM_004928.3(CFAP410):c.545+1G>A GRCh37: Chr21:45751725 GRCh38: Chr21:44331842	CFAP410		not provided	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 4285758.	NM_004928.3(CFAP410):c.103del (p.Ile35fs) GRCh37: Chr21:45755681 GRCh38: Chr21:44335798	CFAP410	I35fs	Axial spondylometaphyseal dysplasia	Pathogenic (Aug 1, 2015)	no assertion criteria provided
Select item 4285749.	NM_004928.3(CFAP410):c.671T>C (p.Leu224Pro) GRCh37: Chr21:45750181 GRCh38: Chr21:44330298	CFAP410	L224P, L223P, L343P, L182P	Axial spondylometaphyseal dysplasia	Pathogenic (Aug 1, 2015)	no assertion criteria provided
Select item 42857310.	NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro) GRCh37: Chr21:45753071 GRCh38: Chr21:44333188	CFAP410	R73P, R32P	CFAP410-related condition, Retinal dystrophy, Retinitis pigmentosa, Retinal dystrophy with or without macular staphyloma, not provided	Pathogenic/Likely pathogenic (Jul 28, 2023)	criteria provided, multiple submitters, no conflicts