C2931213[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 198912	NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg)	FRAS1 (L259R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 959869	NM_032119.4(ADGRV1):c.208-4A>G	ADGRV1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 46314	NM_032119.4(ADGRV1):c.327C>T (p.Asp109=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1020641	NM_032119.4(ADGRV1):c.362C>T (p.Pro121Leu)	ADGRV1 (P121L)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +2 more	GUncertain significance
Select item 1504926	NM_032119.4(ADGRV1):c.449A>G (p.Asn150Ser)	ADGRV1 (N150S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 46341	NM_032119.4(ADGRV1):c.581C>A (p.Pro194His)	ADGRV1 (P194H)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +3 more	GBenign/Likely benign
Select item 46286	NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala)	ADGRV1 (V551A)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +3 more	GBenign
Select item 46296	NM_032119.4(ADGRV1):c.1817A>C (p.Asn606Thr)	ADGRV1 (N606T)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +3 more	GBenign/Likely benign
Select item 180050	NM_032119.4(ADGRV1):c.2241-10A>T	ADGRV1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1120124	NM_032119.4(ADGRV1):c.2285G>A (p.Arg762His)	ADGRV1 (R762H)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 46306	NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter)	ADGRV1 (R800*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 2C +3 more	GPathogenic
Select item 1021988	NM_032119.4(ADGRV1):c.2483T>C (p.Val828Ala)	ADGRV1 (V828A)	Single nucleotide variant (missense variant +1 more)	not provided +3 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)	Hearing impairment +3 more	GConflicting classifications of pathogenicity
Select item 1605055	NM_032119.4(ADGRV1):c.2734+18T>G	ADGRV1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 849624	NM_032119.4(ADGRV1):c.2974A>G (p.Thr992Ala)	ADGRV1 (T992A)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +2 more	GConflicting classifications of pathogenicity
Select item 954750	NM_032119.4(ADGRV1):c.3431G>A (p.Arg1144Gln)	ADGRV1 (R1144Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 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 46318	NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys)	ADGRV1 (Y1170C)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 46320	NM_032119.4(ADGRV1):c.3775T>A (p.Ser1259Thr)	ADGRV1 (S1259T)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1446767	NM_032119.4(ADGRV1):c.3931A>G (p.Thr1311Ala)	ADGRV1 (T1311A)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +2 more	GConflicting classifications of pathogenicity
Select item 546975	NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met)	ADGRV1 (T1325M)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 46326	NM_032119.4(ADGRV1):c.4254T>C (p.Tyr1418=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 2C +3 more	GBenign/Likely benign
Select item 290823	NM_032119.4(ADGRV1):c.4487A>G (p.Tyr1496Cys)	ADGRV1 (Y1496C)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +3 more	GConflicting classifications of pathogenicity
Select item 46329	NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
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 96212	NM_032119.4(ADGRV1):c.4714A>G (p.Asn1572Asp)	ADGRV1 (N1572D)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +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 46338	NM_032119.4(ADGRV1):c.5576A>G (p.His1859Arg)	ADGRV1 (H1859R)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +3 more	GConflicting classifications of pathogenicity
Select item 46345	NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu)	ADGRV1 (P1987L)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +3 more	GBenign
Select item 1103677	NM_032119.4(ADGRV1):c.6086C>T (p.Pro2029Leu)	ADGRV1 (P2029L)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 4 +2 more	GLikely benign
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 46356	NM_032119.4(ADGRV1):c.6695A>G (p.Tyr2232Cys)	ADGRV1 (Y2232C)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +3 more	GBenign
Select item 907277	NM_032119.4(ADGRV1):c.6705T>G (p.Phe2235Leu)	ADGRV1 (F2235L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1065037	NM_032119.4(ADGRV1):c.6730G>A (p.Val2244Ile)	ADGRV1 (V2244I)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 4 +4 more	GUncertain significance
Select item 6798	NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)	ADGRV1 (Q2301*)	Single nucleotide variant (nonsense)	Febrile seizures, familial, 4 +3 more	GPathogenic/Likely pathogenic
Select item 46358	NM_032119.4(ADGRV1):c.6952-10G>A	ADGRV1	Single nucleotide variant (intron variant)	Usher syndrome type 2C +3 more	GBenign
Select item 1328914	NM_032119.4(ADGRV1):c.7030G>T (p.Ala2344Ser)	ADGRV1 (A2344S)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 4 +3 more	GConflicting classifications of pathogenicity
Select item 46360	NM_032119.4(ADGRV1):c.7034A>G (p.Asn2345Ser)	ADGRV1 (N2345S)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +3 more	GBenign
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 1355355	NM_032119.4(ADGRV1):c.7202T>C (p.Met2401Thr)	ADGRV1 (M2401T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 46365	NM_032119.4(ADGRV1):c.7206G>A (p.Glu2402=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 2C +3 more	GBenign
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 46368	NM_032119.4(ADGRV1):c.7293C>T (p.Ala2431=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 2C +3 more	GBenign/Likely benign
Select item 46373	NM_032119.4(ADGRV1):c.7468G>A (p.Ala2490Thr)	ADGRV1 (A2490T)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 228723	NM_032119.4(ADGRV1):c.7571T>A (p.Val2524Glu)	ADGRV1 (V2524E)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 178958	NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys)	ADGRV1 (R2625C)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 742904	NM_032119.4(ADGRV1):c.8064C>T (p.Ser2688=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 46383	NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe)	ADGRV1 (I2704F)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 46384	NM_032119.4(ADGRV1):c.8133C>T (p.Ser2711=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 2C +3 more	GBenign/Likely benign
Select item 281460	NM_032119.4(ADGRV1):c.8295G>T (p.Leu2765Phe)	ADGRV1 (L2765F)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 933913	NM_032119.4(ADGRV1):c.8308T>C (p.Phe2770Leu)	ADGRV1 (F2770L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 196987	NM_032119.4(ADGRV1):c.8369A>G (p.Tyr2790Cys)	ADGRV1 (Y2790C)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +2 more	GUncertain significance
Select item 1386598	NM_032119.4(ADGRV1):c.8471G>C (p.Gly2824Ala)	ADGRV1 (G2824A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 905881	NM_032119.4(ADGRV1):c.8488C>G (p.Leu2830Val)	ADGRV1 (L2830V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 46397	NM_032119.4(ADGRV1):c.8730+10_8730+11insC	ADGRV1	Insertion (intron variant)	Usher syndrome type 2C +3 more	GBenign/Likely benign
Select item 46400	NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln)	ADGRV1 (R2959Q)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 4 +3 more	GBenign/Likely benign
Select item 804502	NM_032119.4(ADGRV1):c.9052T>C (p.Phe3018Leu)	ADGRV1 (F3018L)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +2 more	GUncertain significance
Select item 290825	NM_032119.4(ADGRV1):c.9635T>C (p.Ile3212Thr)	ADGRV1 (I3212T)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +2 more	GConflicting classifications of pathogenicity
Select item 46406	NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys)	ADGRV1 (E3215K)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
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 46409	NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 228703	NM_032119.4(ADGRV1):c.10466G>A (p.Gly3489Glu)	ADGRV1 (G3489E)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 585367	NM_032119.4(ADGRV1):c.10801A>G (p.Arg3601Gly)	ADGRV1 (R3601G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 504583	NM_032119.4(ADGRV1):c.11115A>T (p.Ser3705=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 2C +3 more	GBenign/Likely benign
Select item 289270	NM_032119.4(ADGRV1):c.12008T>C (p.Ile4003Thr)	ADGRV1 (I4003T)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +3 more	GUncertain significance
Select item 228706	NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr)	ADGRV1 (I4043T)	Single nucleotide variant (missense variant +1 more)	not specified +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)	Febrile seizures, familial, 4 +4 more	GConflicting classifications of pathogenicity
Select item 1450452	NM_032119.4(ADGRV1):c.12184C>T (p.Arg4062Trp)	ADGRV1 (R4062W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 842294	NM_032119.4(ADGRV1):c.12335T>G (p.Leu4112Trp)	ADGRV1 (L4112W)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 4 +3 more	GConflicting classifications of pathogenicity
Select item 198304	NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys)	ADGRV1 (R4117C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 596494	NM_032119.4(ADGRV1):c.12464C>T (p.Pro4155Leu)	ADGRV1 (P4155L)	Single nucleotide variant (missense variant +1 more)	not provided +2 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)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 500115	NM_032119.4(ADGRV1):c.12818A>G (p.His4273Arg)	ADGRV1 (H4273R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 439392	NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys)	ADGRV1 (E4328K)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +3 more	GConflicting classifications of pathogenicity
Select item 46265	NM_032119.4(ADGRV1):c.13037C>T (p.Pro4346Leu)	ADGRV1 (P4346L)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +3 more	GBenign
Select item 812126	NM_032119.4(ADGRV1):c.13232-1G>A	ADGRV1	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 2C +1 more	GPathogenic/Likely pathogenic
Select item 426807	NM_032119.4(ADGRV1):c.13358A>G (p.His4453Arg)	ADGRV1 (H4453R)	Single nucleotide variant (missense variant +1 more)	not specified +3 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 46268	NM_032119.4(ADGRV1):c.13599A>G (p.Thr4533=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 2C +3 more	GBenign
Select item 228711	NM_032119.4(ADGRV1):c.14303C>T (p.Ser4768Leu)	ADGRV1 (S4768L)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 907577	NM_032119.4(ADGRV1):c.14320C>T (p.Leu4774Phe)	ADGRV1 (L4774F)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 853143	NM_032119.4(ADGRV1):c.14546C>G (p.Thr4849Ser)	ADGRV1 (T4849S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 504584	NM_032119.4(ADGRV1):c.14719G>T (p.Val4907Phe)	ADGRV1 (V4907F)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 198661	NM_032119.4(ADGRV1):c.15145G>A (p.Ala5049Thr)	ADGRV1 (A5049T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 285387	NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser)	ADGRV1 (P5057S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 198666	NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys)	ADGRV1 (T5444K)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1146462	NM_032119.4(ADGRV1):c.16472G>A (p.Ser5491Asn)	ADGRV1 (S5491N)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely benign
Select item 46287	NM_032119.4(ADGRV1):c.16841C>T (p.Thr5614Ile)	ADGRV1 (T5614I)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +3 more	GBenign/Likely benign
Select item 504586	NM_032119.4(ADGRV1):c.16874C>T (p.Ser5625Leu)	ADGRV1 (S5625L)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 503694	NM_032119.4(ADGRV1):c.17062C>T (p.Arg5688Ter)	ADGRV1 (R5688*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 2C +2 more	GPathogenic
Select item 1042825	NM_032119.4(ADGRV1):c.17518T>C (p.Tyr5840His)	ADGRV1 (Y5840H)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 4 +2 more	GConflicting classifications of pathogenicity
Select item 283512	NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile)	ADGRV1 (L5920I)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 504588	NM_032119.4(ADGRV1):c.18001A>T (p.Met6001Leu)	ADGRV1 (M6001L)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 842040	NM_032119.4(ADGRV1):c.18629C>T (p.Pro6210Leu)	ADGRV1 (P6210L)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 4 +2 more	GUncertain significance
Select item 959014	NM_032119.4(ADGRV1):c.18710C>T (p.Thr6237Met)	ADGRV1 (T6237M)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 46300	NM_032119.4(ADGRV1):c.18741G>A (p.Gly6247=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 2C +3 more	GBenign
Select item 504590	NM_032119.4(ADGRV1):c.18754G>A (p.Asp6252Asn)	ADGRV1 (D6252N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 837392	NM_001195263.2(PDZD7):c.2680T>C (p.Phe894Leu)	PDZD7 (F894L)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 57 +3 more	GUncertain significance
Select item 44121	NM_001195263.2(PDZD7):c.2107del (p.Ser703fs)	PDZD7 (S703fs)	Deletion (frameshift variant)	Usher syndrome type 2A +4 more	GConflicting classifications of pathogenicity
Select item 667152	NM_001195263.2(PDZD7):c.1629G>A (p.Gln543=)	PDZD7	Single nucleotide variant (synonymous variant)	Usher syndrome type 2C +4 more	GLikely benign

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