"WangQJ Lab, Chinese People's Liberation Army General Hospital"[submit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1185070	NM_032119.4(ADGRV1):c.4752+2T>G	ADGRV1	Single nucleotide variant (splice donor variant)	Usher syndrome type 2C	GLikely pathogenic
Select item 1185071	NM_032119.4(ADGRV1):c.6514T>C (p.Ser2172Pro)	ADGRV1 (S2172P)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C	GUncertain significance
Select item 1185113	NM_032119.4(ADGRV1):c.7255C>T (p.Pro2419Ser)	ADGRV1 (P2419S)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C	GUncertain significance
Select item 1185055	NM_032119.4(ADGRV1):c.7610del (p.Ser2537fs)	ADGRV1 (S2537fs)	Deletion (frameshift variant +1 more)	Usher syndrome type 2C	GLikely pathogenic
Select item 1185056	NM_032119.4(ADGRV1):c.8838dup (p.Thr2947fs)	ADGRV1 (T2947fs)	Duplication (frameshift variant +1 more)	Usher syndrome type 2C	GLikely pathogenic
Select item 1185125	NM_032119.4(ADGRV1):c.15492C>A (p.Ser5164Arg)	ADGRV1 (S5164R)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C	GUncertain significance

ClinVar