"Blueprint Genetics"[submitter] AND "ADGRV1"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 372373	NM_032119.4(ADGRV1):c.956dup (p.Asn319fs)	ADGRV1 (N319fs)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 865856	NM_032119.4(ADGRV1):c.2277T>A (p.Tyr759Ter)	ADGRV1 (Y759*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
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 866777	NM_032119.4(ADGRV1):c.4072T>C (p.Ser1358Pro)	ADGRV1 (S1358P)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 866366	NM_032119.4(ADGRV1):c.4880T>C (p.Phe1627Ser)	ADGRV1 (F1627S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 866456	NM_032119.4(ADGRV1):c.5042G>C (p.Ser1681Thr)	ADGRV1 (S1681T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 866159	NM_032119.4(ADGRV1):c.5110+4A>G	ADGRV1	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 853336	NM_032119.4(ADGRV1):c.5784C>G (p.Ser1928Arg)	ADGRV1 (S1928R)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 867046	NM_032119.4(ADGRV1):c.6017G>T (p.Gly2006Val)	ADGRV1 (G2006V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 866073	NM_032119.4(ADGRV1):c.6849C>T (p.Gly2283=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 2C +2 more	GConflicting classifications of pathogenicity
Select item 865791	NM_032119.4(ADGRV1):c.7150C>G (p.Arg2384Gly)	ADGRV1 (R2384G)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GUncertain significance
Select item 866365	NM_032119.4(ADGRV1):c.7519A>G (p.Thr2507Ala)	ADGRV1 (T2507A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 865936	NM_032119.4(ADGRV1):c.8155+3G>C	ADGRV1	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 865790	NM_032119.4(ADGRV1):c.8226T>G (p.Ile2742Met)	ADGRV1 (I2742M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 866321	NM_032119.4(ADGRV1):c.8749G>T (p.Glu2917Ter)	ADGRV1 (E2917*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 430541	NM_032119.4(ADGRV1):c.9661G>A (p.Val3221Met)	ADGRV1 (V3221M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 517415	NM_032119.4(ADGRV1):c.9877C>T (p.Arg3293Ter)	ADGRV1 (R3293*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 866395	NM_032119.4(ADGRV1):c.9906+1G>A	ADGRV1	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GPathogenic
Select item 867137	NM_032119.4(ADGRV1):c.9907-1G>A	ADGRV1	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 2C +3 more	GPathogenic/Likely pathogenic
Select item 866776	NM_032119.4(ADGRV1):c.10088_10091del (p.Val3363fs)	ADGRV1 (V3363fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy +1 more	GPathogenic
Select item 523945	NM_032119.4(ADGRV1):c.10736_10737del (p.Ala3579fs)	ADGRV1 (A3579fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 505145	NM_032119.4(ADGRV1):c.10873C>G (p.Leu3625Val)	ADGRV1 (L3625V)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 866363	NM_032119.4(ADGRV1):c.10940del (p.Asn3647fs)	ADGRV1 (N3647fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 866711	NM_032119.4(ADGRV1):c.11484_11487del (p.Asn3828fs)	ADGRV1 (N3828fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 866027	NM_032119.4(ADGRV1):c.12497C>G (p.Ser4166Ter)	ADGRV1 (S4166*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 866110	NM_032119.4(ADGRV1):c.12697dup (p.Ser4233fs)	ADGRV1 (S4233fs)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
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 179452	NM_032119.4(ADGRV1):c.13336G>A (p.Gly4446Arg)	ADGRV1 (G4446R)	Single nucleotide variant (non-coding transcript variant +1 more)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 865935	NM_032119.4(ADGRV1):c.13681T>G (p.Ser4561Ala)	ADGRV1 (S4561A)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 866190	NM_032119.4(ADGRV1):c.13772C>T (p.Thr4591Ile)	ADGRV1 (T4591I)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 430362	NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp)	ADGRV1 (R4789W)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 866116	NM_032119.4(ADGRV1):c.14623G>A (p.Ala4875Thr)	ADGRV1 (A4875T)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 866712	NM_032119.4(ADGRV1):c.14837-8T>C	ADGRV1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 46275	NM_032119.4(ADGRV1):c.14973-2A>G	ADGRV1	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 46279	NM_032119.4(ADGRV1):c.15471C>T (p.Ser5157=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 2C +3 more	GConflicting classifications of pathogenicity
Select item 286688	NM_032119.4(ADGRV1):c.15987C>T (p.Tyr5329=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 866710	NM_032119.4(ADGRV1):c.16436del (p.Asn5479fs)	ADGRV1 (N5479fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 866635	NM_032119.4(ADGRV1):c.16940del (p.Val5647fs)	ADGRV1 (V5647fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 445736	NM_032119.4(ADGRV1):c.17987G>T (p.Trp5996Leu)	ADGRV1 (W5996L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 866192	NM_032119.4(ADGRV1):c.18217G>A (p.Val6073Met)	ADGRV1 (V6073M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 40