ClinVar for Gene (Select 57211) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362036	NM_198569.3(ADGRG6):c.2609T>C (p.Ile870Thr)	ADGRG6 (I842T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360909	NM_198569.3(ADGRG6):c.1748A>G (p.Glu583Gly)	ADGRG6 (E555G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343269	NM_198569.3(ADGRG6):c.3575-2436G>A	ADGRG6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3342418	NM_198569.3(ADGRG6):c.1582A>C (p.Met528Leu)	ADGRG6 (M500L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3271998	NM_198569.3(ADGRG6):c.3183A>C (p.Glu1061Asp)	ADGRG6 (E1033D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271991	NM_198569.3(ADGRG6):c.511G>T (p.Val171Phe)	ADGRG6 (V171F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271984	NM_198569.3(ADGRG6):c.3444T>G (p.Asn1148Lys)	ADGRG6 (N1120K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271978	NM_198569.3(ADGRG6):c.2084A>G (p.Asn695Ser)	ADGRG6 (N667S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271974	NM_198569.3(ADGRG6):c.1798A>T (p.Asn600Tyr)	ADGRG6 (N572Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271973	NM_198569.3(ADGRG6):c.3060A>G (p.Ile1020Met)	ADGRG6 (I992M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271972	NM_198569.3(ADGRG6):c.1340C>T (p.Thr447Met)	ADGRG6 (T419M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271971	NM_198569.3(ADGRG6):c.1579G>T (p.Ala527Ser)	ADGRG6 (A499S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233964	NM_198569.3(ADGRG6):c.1424+2T>A	ADGRG6	Single nucleotide variant (splice donor variant)	Lethal congenital contracture syndrome 9	GLikely pathogenic
Select item 3086879	NM_198569.3(ADGRG6):c.598A>T (p.Thr200Ser)	ADGRG6 (T200S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086876	NM_198569.3(ADGRG6):c.575T>C (p.Val192Ala)	ADGRG6 (V192A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086862	NM_198569.3(ADGRG6):c.3568C>G (p.His1190Asp)	ADGRG6 (H1162D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086853	NM_198569.3(ADGRG6):c.3418T>C (p.Ser1140Pro)	ADGRG6 (S1112P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086849	NM_198569.3(ADGRG6):c.3377G>A (p.Arg1126Gln)	ADGRG6 (R1126Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086763	NM_198569.3(ADGRG6):c.1900A>G (p.Ile634Val)	ADGRG6 (I606V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086718	NM_198569.3(ADGRG6):c.1313A>G (p.Asn438Ser)	ADGRG6 (N438S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064408	NM_198569.3(ADGRG6):c.672_681del (p.Ser225fs)	ADGRG6 (S225fs)	Deletion (frameshift variant)	Lethal congenital contracture syndrome 9	GLikely pathogenic
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3055996	NM_198569.3(ADGRG6):c.2939-7G>A	ADGRG6	Single nucleotide variant (intron variant)	ADGRG6-related disorder	GBenign
Select item 3055310	NM_198569.3(ADGRG6):c.2457G>A (p.Thr819=)	ADGRG6	Single nucleotide variant (synonymous variant)	ADGRG6-related disorder	GLikely benign
Select item 3049565	NM_198569.3(ADGRG6):c.3114C>A (p.Ala1038=)	ADGRG6	Single nucleotide variant (synonymous variant)	ADGRG6-related disorder	GLikely benign
Select item 3048074	NM_198569.3(ADGRG6):c.1839C>T (p.Val613=)	ADGRG6	Single nucleotide variant (synonymous variant)	ADGRG6-related disorder	GLikely benign
Select item 3043727	NM_198569.3(ADGRG6):c.1138+9C>T	ADGRG6	Single nucleotide variant (intron variant)	ADGRG6-related disorder	GLikely benign
Select item 3040069	NM_198569.3(ADGRG6):c.2049A>G (p.Val683=)	ADGRG6	Single nucleotide variant (synonymous variant)	ADGRG6-related disorder	GLikely benign
Select item 2682957	NM_198569.3(ADGRG6):c.3334A>T (p.Ile1112Phe)	ADGRG6 (I1084F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682956	NM_198569.3(ADGRG6):c.1518G>T (p.Glu506Asp)	ADGRG6 (E478D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656947	NM_198569.3(ADGRG6):c.507A>G (p.Val169=)	ADGRG6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623363	NM_198569.3(ADGRG6):c.1109G>T (p.Ser370Ile)	ADGRG6 (S370I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613796	NM_198569.3(ADGRG6):c.2608A>G (p.Ile870Val)	ADGRG6 (I842V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613795	NM_198569.3(ADGRG6):c.2105G>C (p.Ser702Thr)	ADGRG6 (S702T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611711	NM_198569.3(ADGRG6):c.1619A>G (p.Gln540Arg)	ADGRG6 (Q512R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604603	NM_198569.3(ADGRG6):c.1907C>G (p.Ser636Cys)	ADGRG6 (S608C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599422	NM_198569.3(ADGRG6):c.1238G>A (p.Arg413Lys)	ADGRG6 (R385K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588728	NM_198569.3(ADGRG6):c.2972C>T (p.Ala991Val)	ADGRG6 (A991V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545341	NM_198569.3(ADGRG6):c.2626G>A (p.Ala876Thr)	ADGRG6 (A876T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537686	NM_198569.3(ADGRG6):c.1666G>A (p.Ala556Thr)	ADGRG6 (A556T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513787	NM_198569.3(ADGRG6):c.451G>A (p.Val151Met)	ADGRG6 (V151M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513668	NM_198569.3(ADGRG6):c.1355A>G (p.Asn452Ser)	ADGRG6 (N452S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480417	NM_198569.3(ADGRG6):c.1699C>T (p.Pro567Ser)	ADGRG6 (P567S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461969	NM_198569.3(ADGRG6):c.1990A>G (p.Ile664Val)	ADGRG6 (I636V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459642	NM_198569.3(ADGRG6):c.1296G>T (p.Lys432Asn)	ADGRG6 (K404N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2438877	NM_198569.3(ADGRG6):c.2180C>G (p.Pro727Arg)	ADGRG6 (P699R +1 more)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 9	GUncertain significance
Select item 2431122	NM_198569.3(ADGRG6):c.2541+185_2541+187delinsTCT	ADGRG6	Indel (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431121	NM_198569.3(ADGRG6):c.2541+173_2541+175inv	ADGRG6	Inversion (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431111	NM_198569.3(ADGRG6):c.2127+438T>C	ADGRG6	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2424710	NC_000006.11:g.(?_142623467)_(144508628_?)del	ADAT2, ADGRG6 +11 more	Deletion	not provided	GPathogenic
Select item 2410057	NM_198569.3(ADGRG6):c.3500G>C (p.Gly1167Ala)	ADGRG6 (G1139A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400839	NM_198569.3(ADGRG6):c.2906G>A (p.Arg969Gln)	ADGRG6 (R941Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400636	NM_198569.3(ADGRG6):c.2996A>C (p.Tyr999Ser)	ADGRG6 (Y999S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388472	NM_198569.3(ADGRG6):c.3107A>G (p.Asn1036Ser)	ADGRG6 (N1008S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386699	NM_198569.3(ADGRG6):c.1189C>A (p.Pro397Thr)	ADGRG6 (P397T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385641	NM_198569.3(ADGRG6):c.2987A>G (p.Asn996Ser)	ADGRG6 (N968S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384959	NM_198569.3(ADGRG6):c.1724T>C (p.Val575Ala)	ADGRG6 (V575A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374668	NM_198569.3(ADGRG6):c.3308A>G (p.Asn1103Ser)	ADGRG6 (N1075S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371157	NM_198569.3(ADGRG6):c.2561C>T (p.Ser854Leu)	ADGRG6 (S826L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368584	NM_198569.3(ADGRG6):c.1769A>G (p.Gln590Arg)	ADGRG6 (Q562R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363455	NM_198569.3(ADGRG6):c.62T>C (p.Leu21Pro)	ADGRG6 (L21P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347613	NM_198569.3(ADGRG6):c.1525G>A (p.Asp509Asn)	ADGRG6 (D481N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346691	NM_198569.3(ADGRG6):c.3187G>T (p.Val1063Leu)	ADGRG6 (V1035L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338063	NM_198569.3(ADGRG6):c.1059C>G (p.Asn353Lys)	ADGRG6 (N353K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320510	NM_198569.3(ADGRG6):c.34C>T (p.His12Tyr)	ADGRG6 (H12Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318753	NM_198569.3(ADGRG6):c.1429G>T (p.Val477Leu)	ADGRG6 (V477L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318752	NM_198569.3(ADGRG6):c.1428G>T (p.Leu476Phe)	ADGRG6 (L448F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302979	NM_198569.3(ADGRG6):c.239A>G (p.Gln80Arg)	ADGRG6 (Q80R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295540	NM_198569.3(ADGRG6):c.2119T>C (p.Tyr707His)	ADGRG6 (Y707H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287312	NM_198569.3(ADGRG6):c.332G>A (p.Cys111Tyr)	ADGRG6 (C111Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276829	NM_198569.3(ADGRG6):c.2337C>G (p.Ile779Met)	ADGRG6 (I751M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272646	NM_198569.3(ADGRG6):c.1693A>G (p.Thr565Ala)	ADGRG6 (T537A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270736	NM_198569.3(ADGRG6):c.3402T>G (p.Phe1134Leu)	ADGRG6 (F1106L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265339	NM_198569.3(ADGRG6):c.2039C>T (p.Ala680Val)	ADGRG6 (A652V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261614	NM_198569.3(ADGRG6):c.1528G>A (p.Glu510Lys)	ADGRG6 (E482K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256371	NM_198569.3(ADGRG6):c.3068T>C (p.Val1023Ala)	ADGRG6 (V995A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248109	NM_198569.3(ADGRG6):c.1993G>C (p.Asp665His)	ADGRG6 (D637H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238018	NM_198569.3(ADGRG6):c.3266G>A (p.Gly1089Glu)	ADGRG6 (G1089E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236568	NM_198569.3(ADGRG6):c.3343T>C (p.Cys1115Arg)	ADGRG6 (C1087R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235346	NM_198569.3(ADGRG6):c.1582A>G (p.Met528Val)	ADGRG6 (M528V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2233182	NM_198569.3(ADGRG6):c.305A>C (p.Asp102Ala)	ADGRG6 (D102A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231178	NM_198569.3(ADGRG6):c.2150T>C (p.Val717Ala)	ADGRG6 (V717A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225082	NM_198569.3(ADGRG6):c.2235G>T (p.Gln745His)	ADGRG6 (Q717H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216492	NM_198569.3(ADGRG6):c.3115A>G (p.Met1039Val)	ADGRG6 (M1039V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211090	NM_198569.3(ADGRG6):c.1000G>A (p.Val334Ile)	ADGRG6 (V334I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208175	NM_198569.3(ADGRG6):c.3278T>C (p.Ile1093Thr)	ADGRG6 (I1093T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2206172	NM_198569.3(ADGRG6):c.752A>G (p.Glu251Gly)	ADGRG6 (E251G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807585	GRCh37/hg19 6q24.1(chr6:142246948-142757320)x3	ADGRG6, NMBR +1 more	Copy number gain	not provided	GUncertain significance
Select item 1695167	NM_198569.3(ADGRG6):c.3549C>G (p.Thr1183=)	ADGRG6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1693935	NM_198569.3(ADGRG6):c.3574+4A>G	ADGRG6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1693934	NM_198569.3(ADGRG6):c.796G>A (p.Val266Ile)	ADGRG6 (V266I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1527298	GRCh37/hg19 6q24.1-24.2(chr6:140486733-143341271)	ADGRG6, HIVEP2 +2 more	Copy number loss	not specified	GLikely pathogenic
Select item 1342704	NM_198569.3(ADGRG6):c.2219T>A (p.Leu740Ter)	ADGRG6 (L712* +1 more)	Single nucleotide variant (nonsense)	Lethal congenital contracture syndrome 9	GPathogenic
Select item 1308919	NM_198569.3(ADGRG6):c.215G>A (p.Arg72Gln)	ADGRG6 (R72Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308918	NM_198569.3(ADGRG6):c.305A>G (p.Asp102Gly)	ADGRG6 (D102G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307917	NM_198569.3(ADGRG6):c.2799_2804del (p.932AV[1])	ADGRG6	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1302677	NM_198569.3(ADGRG6):c.3059T>C (p.Ile1020Thr)	ADGRG6 (I1020T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1295007	NC_000006.12:g.142301906T>C	ADGRG6, LOC129997316	Single nucleotide variant	not provided	GBenign
Select item 1294810	NM_198569.3(ADGRG6):c.1745-42T>G	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign

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