"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 46374	NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys)	ADGRV1 (R249K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 46316	NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp)	ADGRV1 (G1148D)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 6798	NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)	ADGRV1 (Q2301*)	Single nucleotide variant (nonsense)	Febrile seizures, familial, 4 +3 more	GPathogenic/Likely pathogenic
Select item 438171	NM_032119.4(ADGRV1):c.8807C>G (p.Ser2936Ter)	ADGRV1 (S2936*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 438168	NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter)	ADGRV1 (Y4266*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome +2 more	GPathogenic
Select item 438169	NM_032119.4(ADGRV1):c.14517G>C (p.Gln4839His)	ADGRV1 (Q4839H)	Single nucleotide variant (missense variant +1 more)	Usher syndrome	GLikely pathogenic
Select item 438170	NM_032119.4(ADGRV1):c.17314C>T (p.Arg5772Ter)	ADGRV1 (R5772*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic

ClinVar