"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193464	NM_032119.4(ADGRV1):c.22+9T>C	ADGRV1, LOC129994205	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
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 178354	NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly)	ADGRV1 (R285G)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 227388	NM_032119.4(ADGRV1):c.1033C>A (p.Gln345Lys)	ADGRV1 (Q345K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 227389	NM_032119.4(ADGRV1):c.1056G>A (p.Pro352=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 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)	ADGRV1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 284591	NM_032119.4(ADGRV1):c.1131T>G (p.Ser377=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	ADGRV1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 46290	NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val)	ADGRV1 (G573V)	Single nucleotide variant (missense variant +1 more)	not provided +3 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)	ADGRV1-related disorder +4 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 853185	NM_032119.4(ADGRV1):c.2636C>T (p.Thr879Met)	ADGRV1 (T879M)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +3 more	GConflicting classifications of pathogenicity
Select item 505841	NM_032119.4(ADGRV1):c.2759G>A (p.Arg920Gln)	ADGRV1 (R920Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 817512	NM_032119.4(ADGRV1):c.2864C>A (p.Ser955Ter)	ADGRV1 (S955*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome +1 more	GPathogenic
Select item 1001322	NM_032119.4(ADGRV1):c.3212G>A (p.Ser1071Asn)	ADGRV1 (S1071N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 178357	NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 2C +2 more	GConflicting classifications of pathogenicity
Select item 158651	NM_032119.4(ADGRV1):c.3289G>A (p.Gly1097Ser)	ADGRV1 (G1097S)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +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 46315	NM_032119.4(ADGRV1):c.3303A>G (p.Val1101=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 46319	NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val)	ADGRV1 (I1187V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1284697	NM_032119.4(ADGRV1):c.3780A>G (p.Glu1260=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 679377	NM_032119.4(ADGRV1):c.4128C>T (p.Asp1376=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1023324	NM_032119.4(ADGRV1):c.4429A>G (p.Thr1477Ala)	ADGRV1 (T1477A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 110040	NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr)	ADGRV1 (A1503T)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +3 more	GConflicting classifications of pathogenicity
Select item 195624	NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys)	ADGRV1 (E1556K)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +2 more	GConflicting classifications of pathogenicity
Select item 226648	NM_032119.4(ADGRV1):c.4864T>C (p.Tyr1622His)	ADGRV1 (Y1622H)	Single nucleotide variant (missense variant +1 more)	not provided +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 specified +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)	ADGRV1-related disorder +4 more	GBenign/Likely benign
Select item 46343	NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile)	ADGRV1 (V1951I)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +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 specified +3 more	GConflicting classifications of pathogenicity
Select item 504580	NM_032119.4(ADGRV1):c.6187T>C (p.Leu2063=)	ADGRV1	Single nucleotide variant (non-coding transcript variant +1 more)	Usher syndrome type 2C +2 more	GBenign/Likely benign
Select item 46351	NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val)	ADGRV1 (A2106V)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 46352	NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 2C +3 more	GBenign/Likely benign
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 1299951	NM_032119.4(ADGRV1):c.7135G>A (p.Gly2379Arg)	ADGRV1 (G2379R)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 4	GUncertain significance
Select item 46363	NM_032119.4(ADGRV1):c.7176C>T (p.Ser2392=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not specified +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 provided +2 more	GBenign/Likely benign
Select item 46377	NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser)	ADGRV1 (P2528S)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +3 more	GConflicting classifications of pathogenicity
Select item 285040	NM_032119.4(ADGRV1):c.7806C>G (p.Pro2602=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 163583	NM_032119.4(ADGRV1):c.7867G>A (p.Glu2623Lys)	ADGRV1 (E2623K)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 46381	NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His)	ADGRV1 (R2625H)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 46382	NM_032119.4(ADGRV1):c.7945+6C>T	ADGRV1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 46393	NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val)	ADGRV1 (I2858V)	Single nucleotide variant (missense variant +1 more)	ADGRV1-related disorder +3 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)	ADGRV1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1284812	NM_032119.4(ADGRV1):c.8700A>T (p.Thr2900=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 197047	NM_032119.4(ADGRV1):c.8730+21dup	ADGRV1	Duplication (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 724584	NM_032119.4(ADGRV1):c.8824+10G>A	ADGRV1	Single nucleotide variant (intron variant)	Usher syndrome type 2C +1 more	GConflicting classifications of pathogenicity
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 197493	NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
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 specified +2 more	GConflicting classifications of pathogenicity
Select item 46247	NM_032119.4(ADGRV1):c.10339G>A (p.Glu3447Lys)	ADGRV1 (E3447K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 46251	NM_032119.4(ADGRV1):c.10769+9A>G	ADGRV1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 855651	NM_032119.4(ADGRV1):c.10820T>C (p.Val3607Ala)	ADGRV1 (V3607A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 163597	NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro)	ADGRV1 (S3646P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 178364	NM_032119.4(ADGRV1):c.11568T>C (p.Val3856=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	ADGRV1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 178365	NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn)	ADGRV1 (D3992N)	Single nucleotide variant (missense variant +1 more)	ADGRV1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 163601	NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe)	ADGRV1 (V4061F)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +4 more	GConflicting classifications of pathogenicity
Select item 1174677	NM_032119.4(ADGRV1):c.12379G>A (p.Glu4127Lys)	ADGRV1 (E4127K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 178367	NM_032119.4(ADGRV1):c.12527+6G>T	ADGRV1	Single nucleotide variant (intron variant)	ADGRV1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 505865	NM_032119.4(ADGRV1):c.12704A>G (p.Tyr4235Cys)	ADGRV1 (Y4235C)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +3 more	GConflicting classifications of pathogenicity
Select item 228712	NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln)	ADGRV1 (P4811Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 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 provided +2 more	GConflicting classifications of pathogenicity
Select item 284073	NM_032119.4(ADGRV1):c.14931A>G (p.Leu4977=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1005940	NM_032119.4(ADGRV1):c.16313C>T (p.Thr5438Ile)	ADGRV1 (T5438I)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 163624	NM_032119.4(ADGRV1):c.16699G>A (p.Val5567Ile)	ADGRV1 (V5567I)	Single nucleotide variant (missense variant +1 more)	not provided +2 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)	ADGRV1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 163629	NM_032119.4(ADGRV1):c.17528A>G (p.Tyr5843Cys)	ADGRV1 (Y5843C)	Single nucleotide variant (missense variant +1 more)	not provided +1 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)	not specified +3 more	GConflicting classifications of pathogenicity

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Items: 71