Related gene-specific medical variations for Gene (Select 84059) - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065354	NM_032119.4(ADGRV1):c.14789T>G (p.Leu4930Ter)	ADGRV1 (L4930*)	Single nucleotide variant (nonsense +1 more)	Febrile seizures, familial, 4	GLikely pathogenic
Select item 2995076	NM_032119.4(ADGRV1):c.18G>T (p.Gly6=)	ADGRV1, LOC129994205	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2826204	NM_032119.4(ADGRV1):c.13C>T (p.Leu5=)	ADGRV1, LOC129994205	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2823785	NM_032119.4(ADGRV1):c.22+19G>C	ADGRV1, LOC129994205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790506	NM_032119.4(ADGRV1):c.22+8A>G	ADGRV1, LOC129994205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2689150	NM_032119.4(ADGRV1):c.18768G>C (p.Gln6256His)	ADGRV1 (Q6256H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2685162	GRCh37/hg19 5q14.3(chr5:89998097-90122803)x1	ADGRV1	Copy number loss	not provided	GUncertain significance
Select item 2584676	NM_032119.4(ADGRV1):c.9163G>C (p.Glu3055Gln)	ADGRV1 (E3055Q)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 4	GUncertain significance
Select item 2503093	NM_032119.4(ADGRV1):c.14329C>T (p.Gln4777Ter)	ADGRV1 (Q4777*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome	GPathogenic
Select item 2503090	NM_032119.4(ADGRV1):c.227del (p.Gly76fs)	ADGRV1 (G76fs)	Deletion (frameshift variant +1 more)	Usher syndrome	GPathogenic
Select item 2503089	NM_032119.4(ADGRV1):c.9439C>T (p.Arg3147Ter)	ADGRV1 (R3147*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome	GPathogenic
Select item 2503083	NM_032119.4(ADGRV1):c.11938C>T (p.Gln3980Ter)	ADGRV1 (Q3980*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome	GPathogenic
Select item 2503073	NM_032119.4(ADGRV1):c.2812C>T (p.Gln938Ter)	ADGRV1 (Q938*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome	GPathogenic
Select item 2445626	NC_000005.10:g.90118339_90119245del	ADGRV1	Deletion	Usher syndrome type 2C	GPathogenic
Select item 2438880	NM_032119.4(ADGRV1):c.17792C>A (p.Ala5931Asp)	ADGRV1 (A5931D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438879	NM_032119.4(ADGRV1):c.5110+3A>G	ADGRV1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2438878	NM_032119.4(ADGRV1):c.5485G>T (p.Gly1829Trp)	ADGRV1 (G1829W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2135612	NM_032119.4(ADGRV1):c.22+3A>C	ADGRV1, LOC129994205	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2120924	NM_032119.4(ADGRV1):c.22+17G>T	ADGRV1, LOC129994205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923757	NM_032119.4(ADGRV1):c.22+12C>A	ADGRV1, LOC129994205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1809143	GRCh37/hg19 5q14.3(chr5:89869634-89956672)x1	ADGRV1	Copy number loss	not provided	GUncertain significance
Select item 1701739	NM_032119.4(ADGRV1):c.22+25188A>C	ADGRV1	Single nucleotide variant (intron variant)	Febrile seizures, familial, 4	GUncertain significance
Select item 1700143	NM_032119.4(ADGRV1):c.17645A>G (p.Tyr5882Cys)	ADGRV1 (Y5882C)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 4	GLikely pathogenic
Select item 1676401	NM_032119.4(ADGRV1):c.357+23T>C	ADGRV1	Single nucleotide variant	not provided	GLikely benign
Select item 1469188	NM_032119.4(ADGRV1):c.22+6C>T	ADGRV1, LOC129994205	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1341765	NM_032119.4(ADGRV1):c.259A>G (p.Ile87Val)	ADGRV1 (I87V)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 4	GUncertain significance
Select item 1340731	GRCh37/hg19 5q14.3(chr5:90271761-90326129)x1	ADGRV1	Copy number loss	not provided	GUncertain significance
Select item 1256323	NM_032119.4(ADGRV1):c.16780C>A (p.Arg5594Ser)	ADGRV1 (R5594S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1188365	NM_032119.4(ADGRV1):c.22+62A>G	ADGRV1, LOC129994205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1139900	NM_032119.4(ADGRV1):c.22+17G>A	ADGRV1, LOC129994205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1098710	NM_032119.4(ADGRV1):c.6556C>G (p.Pro2186Ala)	ADGRV1 (P2186A)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 4	GUncertain significance
Select item 996871	NM_032119.4(ADGRV1):c.15212A>G (p.Glu5071Gly)	ADGRV1 (E5071G)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 4	GUncertain significance
Select item 993997	NM_032119.4(ADGRV1):c.18674G>T (p.Ser6225Ile)	ADGRV1 (S6225I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 987348	NM_032119.4(ADGRV1):c.18883_18886del (p.Glu6295fs)	ADGRV1 (E6295fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 983320	NM_032119.4(ADGRV1):c.9782G>A (p.Ser3261Asn)	ADGRV1 (S3261N)	Single nucleotide variant (missense variant +1 more)	Seizure	GUncertain significance
Select item 980162	GRCh37/hg19 5q14.3(chr5:90452865-90563755)x3	ADGRV1	Copy number gain	not provided	GUncertain significance
Select item 978172	NM_032119.4(ADGRV1):c.12557A>C (p.Glu4186Ala)	ADGRV1 (E4186A)	Single nucleotide variant (missense variant +1 more)	Seizure	GUncertain significance
Select item 977379	NM_032119.4(ADGRV1):c.335_336del (p.Phe112fs)	ADGRV1 (F112fs)	Deletion (frameshift variant +1 more)	Seizure	GUncertain significance
Select item 974883	NM_032119.4(ADGRV1):c.17518del (p.Tyr5840fs)	ADGRV1 (Y5840fs)	Deletion (frameshift variant +1 more)	Usher syndrome type 2C	GLikely pathogenic
Select item 871781	NM_032119.4(ADGRV1):c.1608C>A (p.Tyr536Ter)	ADGRV1 (Y536*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 866711	NM_032119.4(ADGRV1):c.11484_11487del (p.Asn3828fs)	ADGRV1 (N3828fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 866395	NM_032119.4(ADGRV1):c.9906+1G>A	ADGRV1	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GPathogenic
Select item 866363	NM_032119.4(ADGRV1):c.10940del (p.Asn3647fs)	ADGRV1 (N3647fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
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 866159	NM_032119.4(ADGRV1):c.5110+4A>G	ADGRV1	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
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 865936	NM_032119.4(ADGRV1):c.8155+3G>C	ADGRV1	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
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 814710	GRCh37/hg19 5q14.3(chr5:90209062-90419585)x1	ADGRV1	Copy number loss	not provided	GUncertain significance
Select item 813150	NM_032119.4(ADGRV1):c.2241-2A>G	ADGRV1	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 2	GPathogenic
Select item 813149	NM_032119.4(ADGRV1):c.3195dup (p.Gly1066fs)	ADGRV1 (G1066fs)	Duplication (frameshift variant +1 more)	Usher syndrome type 2	GPathogenic
Select item 811745	NM_032119.4(ADGRV1):c.1364T>G (p.Val455Gly)	ADGRV1 (V455G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 804503	NM_032119.4(ADGRV1):c.9255C>A (p.Phe3085Leu)	ADGRV1 (F3085L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 689328	GRCh37/hg19 5q14.3(chr5:89940237-89999954)x1	ADGRV1	Copy number loss	not provided	GUncertain significance
Select item 688237	GRCh37/hg19 5q14.3(chr5:90138848-90219415)x3	ADGRV1	Copy number gain	not provided	GUncertain significance
Select item 687800	GRCh37/hg19 5q14.3(chr5:89940237-89999954)x1	ADGRV1	Copy number loss	not provided	GPathogenic
Select item 687756	GRCh37/hg19 5q14.3(chr5:89940237-89999954)x1	ADGRV1	Copy number loss	not provided	GPathogenic
Select item 685122	GRCh37/hg19 5q14.3(chr5:90239532-90488172)x3	ADGRV1	Copy number gain	not provided	GUncertain significance
Select item 685062	GRCh37/hg19 5q14.3(chr5:90112102-90219415)x1	ADGRV1	Copy number loss	not provided	GPathogenic
Select item 676655	NM_032119.4(ADGRV1):c.22+56C>T	ADGRV1, LOC129994205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 617968	NM_032119.4(ADGRV1):c.8805T>G (p.Thr2935=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 598773	NM_032119.4(ADGRV1):c.8471G>T (p.Gly2824Val)	ADGRV1 (G2824V)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 4	GUncertain significance
Select item 563089	GRCh37/hg19 5q14.3(chr5:89998096-90138849)x1	ADGRV1	Copy number loss	not provided	GUncertain significance
Select item 563088	GRCh37/hg19 5q14.3(chr5:89864064-89889132)x1	ADGRV1	Copy number loss	not provided	GUncertain significance
Select item 524192	t(5;13)(q13;q14)dn	ADGRV1	Translocation	not specified	GUncertain significance
Select item 506131	NM_032119.4(ADGRV1):c.15G>C (p.Leu5=)	ADGRV1, LOC129994205	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 442950	GRCh37/hg19 5q14.3(chr5:90452865-90494075)x1	ADGRV1	Copy number loss	See cases	GUncertain significance
Select item 442445	GRCh37/hg19 5q14.3(chr5:90016797-90257532)x1	ADGRV1	Copy number loss	See cases	GUncertain significance
Select item 224744	NM_032119.3:c.16079-1455_c.16196+155del	ADGRV1	Deletion	Usher syndrome type 2C	GLikely pathogenic
Select item 193464	NM_032119.4(ADGRV1):c.22+9T>C	ADGRV1, LOC129994205	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 179382	NM_032119.4(ADGRV1):c.21A>C (p.Pro7=)	ADGRV1, LOC129994205	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 143158	NM_032119.4(ADGRV1):c.12403+1G>T	ADGRV1	Single nucleotide variant (splice donor variant)	Usher syndrome type 2C	GLikely pathogenic

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Links from Gene

Items: 73