ADGRG6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	FBXO5, FNDC1 +865 more	Copy number gain	See cases	GPathogenic
Select item 1223247	NC_000006.12:g.142301686A>G	ADGRG6	Single nucleotide variant	not provided	GBenign
Select item 1225111	NC_000006.12:g.142301818A>G	ADGRG6, LOC129997316	Single nucleotide variant	not provided	GBenign
Select item 1224928	NC_000006.12:g.142301821C>T	ADGRG6, LOC129997316	Single nucleotide variant	not provided	GBenign
Select item 1295007	NC_000006.12:g.142301906T>C	ADGRG6, LOC129997316	Single nucleotide variant	not provided	GBenign
Select item 1231718	NM_198569.3(ADGRG6):c.-314T>G	ADGRG6	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1256800	NM_198569.3(ADGRG6):c.-266C>T	ADGRG6	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1277642	NM_198569.3(ADGRG6):c.-241G>A	ADGRG6	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1221135	NM_198569.3(ADGRG6):c.-239C>T	ADGRG6	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1270572	NM_198569.3(ADGRG6):c.2+179A>G	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283634	NM_198569.3(ADGRG6):c.3-23A>G	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 192347	NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter)	ADGRG6 (R7*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita	GPathogenic
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 2363455	NM_198569.3(ADGRG6):c.62T>C (p.Leu21Pro)	ADGRG6 (L21P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 731936	NM_198569.3(ADGRG6):c.85A>G (p.Met29Val)	ADGRG6 (M29V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1163274	NM_198569.3(ADGRG6):c.148G>A (p.Gly50Arg)	ADGRG6 (G50R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 713551	NM_198569.3(ADGRG6):c.202A>G (p.Met68Val)	ADGRG6 (M68V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 784098	NM_198569.3(ADGRG6):c.209C>T (p.Thr70Met)	ADGRG6 (T70M)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1243331	NM_198569.3(ADGRG6):c.225C>T (p.Thr75=)	ADGRG6	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2233182	NM_198569.3(ADGRG6):c.305A>C (p.Asp102Ala)	ADGRG6 (D102A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2287312	NM_198569.3(ADGRG6):c.332G>A (p.Cys111Tyr)	ADGRG6 (C111Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791451	NM_198569.3(ADGRG6):c.354A>G (p.Leu118=)	ADGRG6	Single nucleotide variant (synonymous variant)	Lethal congenital contracture syndrome 9 +1 more	GBenign/Likely benign
Select item 1277289	NM_198569.3(ADGRG6):c.367A>G (p.Ser123Gly)	ADGRG6 (S123G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776167	NM_198569.3(ADGRG6):c.440T>A (p.Ile147Asn)	ADGRG6 (I147N)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2656947	NM_198569.3(ADGRG6):c.507A>G (p.Val169=)	ADGRG6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 728746	NM_198569.3(ADGRG6):c.582T>A (p.His194Gln)	ADGRG6 (H194Q)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3064408	NM_198569.3(ADGRG6):c.672_681del (p.Ser225fs)	ADGRG6 (S225fs)	Deletion (frameshift variant)	Lethal congenital contracture syndrome 9	GLikely pathogenic
Select item 730434	NM_198569.3(ADGRG6):c.708A>C (p.Ala236=)	ADGRG6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 504275	NM_198569.3(ADGRG6):c.738dup (p.Ala247fs)	ADGRG6 (A247fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 377371	NM_198569.3(ADGRG6):c.794G>C (p.Gly265Ala)	ADGRG6 (G265A)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
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 789510	NM_198569.3(ADGRG6):c.916G>T (p.Asp306Tyr)	ADGRG6 (D306Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 788643	NM_198569.3(ADGRG6):c.966C>G (p.Leu322=)	ADGRG6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 736917	NM_198569.3(ADGRG6):c.1013A>T (p.Asn338Ile)	ADGRG6 (N338I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 1269008	NM_198569.3(ADGRG6):c.1069+148C>A	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
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 1288533	NM_198569.3(ADGRG6):c.1119C>T (p.Asp373=)	ADGRG6	Single nucleotide variant (synonymous variant)	ADGRG6-related disorder +1 more	GBenign
Select item 3043727	NM_198569.3(ADGRG6):c.1138+9C>T	ADGRG6	Single nucleotide variant (intron variant)	ADGRG6-related disorder	GLikely benign
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 1256969	NM_198569.3(ADGRG6):c.1222+90G>A	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 721726	NM_198569.3(ADGRG6):c.1341G>A (p.Thr447=)	ADGRG6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725881	NM_198569.3(ADGRG6):c.1351G>A (p.Val451Ile)	ADGRG6 (V423I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
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 718051	NM_198569.3(ADGRG6):c.1362-9T>C	ADGRG6	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1275424	NM_198569.3(ADGRG6):c.1424+100T>C	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287099	NM_198569.3(ADGRG6):c.1425-125T>C	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 802278	NM_198569.3(ADGRG6):c.1476G>A (p.Leu492=)	ADGRG6	Single nucleotide variant (synonymous variant)	Lethal congenital contracture syndrome 9	GBenign
Select item 783141	NM_198569.3(ADGRG6):c.1476= (p.Leu492=)	ADGRG6	Variation (no sequence alteration)	not provided	GLikely benign
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 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 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 1245238	NM_198569.3(ADGRG6):c.1568-217A>G	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276276	NM_198569.3(ADGRG6):c.1568-153del	ADGRG6	Deletion (intron variant)	not provided	GBenign
Select item 715425	NM_198569.3(ADGRG6):c.1568-6A>G	ADGRG6	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 796600	NM_198569.3(ADGRG6):c.1632C>T (p.Tyr544=)	ADGRG6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1163275	NM_198569.3(ADGRG6):c.1672C>T (p.Arg558Trp)	ADGRG6 (R530W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1256774	NM_198569.3(ADGRG6):c.1680-129G>A	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 1294810	NM_198569.3(ADGRG6):c.1745-42T>G	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
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 810000	NM_198569.3(ADGRG6):c.1783A>G (p.Thr595Ala)	ADGRG6 (T567A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 730645	NM_198569.3(ADGRG6):c.1790A>T (p.Asp597Val)	ADGRG6 (D569V +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 784498	NM_198569.3(ADGRG6):c.1932T>C (p.Ser644=)	ADGRG6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1163276	NM_198569.3(ADGRG6):c.1955+4A>C	ADGRG6	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 770929	NM_198569.3(ADGRG6):c.1955+17del	ADGRG6	Deletion (intron variant)	not provided	GBenign
Select item 1235454	NM_198569.3(ADGRG6):c.1955+188del	ADGRG6	Deletion (intron variant)	not provided	GBenign
Select item 1231157	NM_198569.3(ADGRG6):c.1956-128C>T	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277069	NM_198569.3(ADGRG6):c.1956-21C>T	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 787836	NM_198569.3(ADGRG6):c.1957G>A (p.Ala653Thr)	ADGRG6 (A625T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 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 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 727816	NM_198569.3(ADGRG6):c.2046C>T (p.Ser682=)	ADGRG6	Single nucleotide variant (synonymous variant)	ADGRG6-related disorder +1 more	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 2613795	NM_198569.3(ADGRG6):c.2105G>C (p.Ser702Thr)	ADGRG6 (S702T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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