"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

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Items: 58

	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 158643	NM_032119.4(ADGRV1):c.1086A>G (p.Leu362=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 163564	NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys)	ADGRV1 (Q613K)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 46297	NM_032119.4(ADGRV1):c.1839+7G>A	ADGRV1	Single nucleotide variant (intron variant)	Usher syndrome type 2C +2 more	GBenign/Likely benign
Select item 46307	NM_032119.4(ADGRV1):c.2553+11T>A	ADGRV1	Single nucleotide variant (intron variant)	Usher syndrome type 2C +2 more	GBenign/Likely benign
Select item 178357	NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 46313	NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe)	ADGRV1 (L1093F)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 158651	NM_032119.4(ADGRV1):c.3289G>A (p.Gly1097Ser)	ADGRV1 (G1097S)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 226647	NM_032119.4(ADGRV1):c.3295A>G (p.Thr1099Ala)	ADGRV1 (T1099A)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +2 more	GConflicting classifications of pathogenicity
Select item 46317	NM_032119.4(ADGRV1):c.3482C>G (p.Ser1161Cys)	ADGRV1 (S1161C)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 4 +3 more	GBenign/Likely benign
Select item 46319	NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val)	ADGRV1 (I1187V)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +2 more	GBenign/Likely benign
Select item 226648	NM_032119.4(ADGRV1):c.4864T>C (p.Tyr1622His)	ADGRV1 (Y1622H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 46331	NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val)	ADGRV1 (I1647V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 46333	NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 46337	NM_032119.4(ADGRV1):c.5525-7C>T	ADGRV1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 46339	NM_032119.4(ADGRV1):c.5780C>T (p.Thr1927Met)	ADGRV1 (T1927M)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +2 more	GBenign
Select item 46343	NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile)	ADGRV1 (V1951I)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 46348	NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg)	ADGRV1 (G2045R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1117212	NM_032119.4(ADGRV1):c.6174A>T (p.Ile2058=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 46351	NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val)	ADGRV1 (A2106V)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +2 more	GConflicting classifications of pathogenicity
Select item 46354	NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala)	ADGRV1 (V2203A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 46361	NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His)	ADGRV1 (R2360H)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +3 more	GBenign/Likely benign
Select item 46363	NM_032119.4(ADGRV1):c.7176C>T (p.Ser2392=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 46364	NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 46366	NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys)	ADGRV1 (Y2410C)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +3 more	GBenign
Select item 46376	NM_032119.4(ADGRV1):c.7576A>G (p.Ile2526Val)	ADGRV1 (I2526V)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +2 more	GBenign
Select item 46377	NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser)	ADGRV1 (P2528S)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 46379	NM_032119.4(ADGRV1):c.7751A>G (p.Asn2584Ser)	ADGRV1 (N2584S)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +2 more	GBenign
Select item 46381	NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His)	ADGRV1 (R2625H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 46382	NM_032119.4(ADGRV1):c.7945+6C>T	ADGRV1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1284651	NM_032119.4(ADGRV1):c.8287-11G>C	ADGRV1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 46393	NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val)	ADGRV1 (I2858V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 46396	NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp)	ADGRV1 (E2897D)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1164935	NM_032119.4(ADGRV1):c.8730+21del	ADGRV1	Deletion (intron variant)	not provided	GBenign
Select item 46402	NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 158655	NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val)	ADGRV1 (A3217V)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 46246	NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 46249	NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr)	ADGRV1 (M3526T)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +2 more	GBenign/Likely benign
Select item 46251	NM_032119.4(ADGRV1):c.10769+9A>G	ADGRV1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 163596	NM_032119.4(ADGRV1):c.10796G>C (p.Gly3599Ala)	ADGRV1 (G3599A)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 163597	NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro)	ADGRV1 (S3646P)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +2 more	GConflicting classifications of pathogenicity
Select item 1164121	NM_032119.4(ADGRV1):c.11378-20G>A	ADGRV1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 163601	NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe)	ADGRV1 (V4061F)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 4 +4 more	GConflicting classifications of pathogenicity
Select item 178367	NM_032119.4(ADGRV1):c.12527+6G>T	ADGRV1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 376988	NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg)	ADGRV1 (H4461R)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 46270	NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His)	ADGRV1 (R4770H)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 227393	NM_032119.4(ADGRV1):c.14373T>A (p.Ala4791=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1284923	NM_032119.4(ADGRV1):c.14691C>T (p.Leu4897=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 178370	NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr)	ADGRV1 (A4921T)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 178371	NM_032119.4(ADGRV1):c.14943G>C (p.Gln4981His)	ADGRV1 (Q4981H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 725733	NM_032119.4(ADGRV1):c.15829C>T (p.Arg5277Cys)	ADGRV1 (R5277C)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +3 more	GConflicting classifications of pathogenicity
Select item 228713	NM_032119.4(ADGRV1):c.16079-11C>G	ADGRV1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 46288	NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu)	ADGRV1 (K5673E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 46294	NM_032119.4(ADGRV1):c.17856+11G>A	ADGRV1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 100602	NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	Febrile seizures, familial, 4 +3 more	GConflicting classifications of pathogenicity
Select item 198972	NM_032119.4(ADGRV1):c.18433-5del	ADGRV1	Deletion (intron variant)	not specified	GBenign
Select item 46298	NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val)	ADGRV1 (M6159V)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 46303	NM_032119.4(ADGRV1):c.18803-13A>G	ADGRV1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign

ClinVar

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Items: 58