ClinVar for MedGen (Select 356065) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064754	NM_004928.3(CFAP410):c.77+2T>C	CFAP410, LOC130066823	Single nucleotide variant (splice donor variant)	Axial spondylometaphyseal dysplasia	GLikely pathogenic
Select item 1683424	NM_004928.3(CFAP410):c.642+2T>C	CFAP410 (V214A)	Single nucleotide variant (missense variant +1 more)	Axial spondylometaphyseal dysplasia	GPathogenic
Select item 812234	NM_004928.3(CFAP410):c.643-1G>C	CFAP410	Single nucleotide variant (splice acceptor variant)	Axial spondylometaphyseal dysplasia	GPathogenic
Select item 428582	NM_004928.3(CFAP410):c.331G>A (p.Val111Met)	CFAP410 (V111M +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic
Select item 428581	NM_004928.3(CFAP410):c.347C>T (p.Pro116Leu)	CFAP410 (P116L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 428580	NM_004928.3(CFAP410):c.319T>C (p.Tyr107His)	CFAP410 (Y107H +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy with or without macular staphyloma +1 more	GPathogenic
Select item 428579	NM_004928.3(CFAP410):c.643-23A>T	CFAP410	Single nucleotide variant (intron variant)	Axial spondylometaphyseal dysplasia	GPathogenic/Likely pathogenic
Select item 428578	NM_004928.3(CFAP410):c.545+1G>A	CFAP410	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 428575	NM_004928.3(CFAP410):c.103del (p.Ile35fs)	CFAP410 (I35fs)	Deletion (frameshift variant +1 more)	Axial spondylometaphyseal dysplasia	GPathogenic
Select item 428574	NM_004928.3(CFAP410):c.671T>C (p.Leu224Pro)	CFAP410 (L224P +3 more)	Single nucleotide variant (missense variant)	Axial spondylometaphyseal dysplasia	GPathogenic
Select item 428573	NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro)	CFAP410 (R73P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy with or without macular staphyloma +4 more	GPathogenic/Likely pathogenic