"Mendelics"[submitter] AND "ADGRV1"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 158647	NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser)	ADGRV1 (R599S)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 137500	NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met)	ADGRV1 (V617M)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 802124	NM_032119.4(ADGRV1):c.3133del (p.Ala1045fs)	ADGRV1 (A1045fs)	Deletion (frameshift variant +1 more)	Usher syndrome type 2C	GPathogenic
Select item 46342	NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn)	ADGRV1 (D1944N)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1428604	NM_032119.4(ADGRV1):c.5857A>G (p.Ser1953Gly)	ADGRV1 (S1953G)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 46348	NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg)	ADGRV1 (G2045R)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1396338	NM_032119.4(ADGRV1):c.6523G>T (p.Val2175Phe)	ADGRV1 (V2175F)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 179159	NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val)	ADGRV1 (I2187V)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +2 more	GConflicting classifications of pathogenicity
Select item 46359	NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe)	ADGRV1 (I2332F)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 802125	NM_032119.4(ADGRV1):c.9208G>T (p.Asp3070Tyr)	ADGRV1 (D3070Y)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C	GLikely pathogenic
Select item 46407	NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp)	ADGRV1 (G3248D)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 1098772	NM_032119.4(ADGRV1):c.9749-2del	ADGRV1	Deletion (splice acceptor variant)	Usher syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1686381	NM_032119.4(ADGRV1):c.13255A>G (p.Met4419Val)	ADGRV1 (M4419V)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 802126	NM_032119.4(ADGRV1):c.13655dup (p.Asn4553fs)	ADGRV1 (N4553fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 802127	NM_032119.4(ADGRV1):c.14467dup (p.Val4823fs)	ADGRV1 (V4823fs)	Duplication (frameshift variant +1 more)	Usher syndrome type 2C	GPathogenic
Select item 163623	NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His)	ADGRV1 (Q5459H)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 46291	NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile)	ADGRV1 (V5876I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 503620	NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs)	ADGRV1 (M5890fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic