"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "AFG3L2" - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2855736	NM_006796.3(AFG3L2):c.2364G>A (p.Glu788=)	AFG3L2, TUBB6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1924780	NM_006796.3(AFG3L2):c.2359A>G (p.Lys787Glu)	AFG3L2, TUBB6 (K787E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2893280	NM_006796.3(AFG3L2):c.2358G>A (p.Glu786=)	AFG3L2, TUBB6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 423779	NM_006796.3(AFG3L2):c.2347C>T (p.Arg783Trp)	AFG3L2, TUBB6 (R783W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1256165	NM_006796.3(AFG3L2):c.2314C>A (p.Leu772Ile)	AFG3L2, TUBB6 (L772I)	Single nucleotide variant (missense variant +1 more)	Optic atrophy 12 +3 more	GUncertain significance
Select item 214057	NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe)	AFG3L2, TUBB6 (L772F)	Single nucleotide variant (missense variant +1 more)	Spastic ataxia 5 +3 more	GConflicting classifications of pathogenicity
Select item 2161341	NM_006796.3(AFG3L2):c.2312C>T (p.Ser771Leu)	AFG3L2, TUBB6 (S771L)	Single nucleotide variant (missense variant +1 more)	Spastic ataxia 5 +3 more	GConflicting classifications of pathogenicity
Select item 2976379	NM_006796.3(AFG3L2):c.2239C>G (p.Pro747Ala)	AFG3L2, TUBB6 (P747A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 733398	NM_006796.3(AFG3L2):c.2195A>G (p.Glu732Gly)	AFG3L2, TUBB6 (E732G)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 450638	NM_006796.3(AFG3L2):c.2185C>G (p.Leu729Val)	AFG3L2, TUBB6 (L729V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2994154	NM_006796.3(AFG3L2):c.2175+19A>G	AFG3L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 136315	NM_006796.3(AFG3L2):c.2175+18G>A	AFG3L2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2004942	NM_006796.3(AFG3L2):c.2172G>T (p.Glu724Asp)	AFG3L2 (E724D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214062	NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met)	AFG3L2 (V723M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2907709	NM_006796.3(AFG3L2):c.2166C>T (p.Asp722=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2745883	NM_006796.3(AFG3L2):c.2155_2156del (p.Lys719fs)	AFG3L2 (K719fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2788728	NM_006796.3(AFG3L2):c.2150C>T (p.Thr717Ile)	AFG3L2 (T717I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648595	NM_006796.3(AFG3L2):c.2132G>T (p.Arg711Ile)	AFG3L2 (R711I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058030	NM_006796.3(AFG3L2):c.2129A>T (p.Lys710Ile)	AFG3L2 (K710I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2790911	NM_006796.3(AFG3L2):c.2104C>T (p.Arg702Ter)	AFG3L2 (R702*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 38393	NM_006796.3(AFG3L2):c.2098G>A (p.Glu700Lys)	AFG3L2 (E700K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1928603	NM_006796.3(AFG3L2):c.2061A>G (p.Lys687=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 931039	NM_006796.3(AFG3L2):c.2030T>C (p.Leu677Pro)	AFG3L2 (L677P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2014169	NM_006796.3(AFG3L2):c.1993G>C (p.Gly665Arg)	AFG3L2 (G665R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2986435	NM_006796.3(AFG3L2):c.1981-11G>A	AFG3L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 377451	NM_006796.3(AFG3L2):c.1981-14T>C	AFG3L2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1638898	NM_006796.3(AFG3L2):c.1980+18T>A	AFG3L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2130719	NM_006796.3(AFG3L2):c.1971A>G (p.Ala657=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1998450	NM_006796.3(AFG3L2):c.1961C>A (p.Thr654Asn)	AFG3L2 (T654N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2033720	NM_006796.3(AFG3L2):c.1959A>G (p.Val653=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1619087	NM_006796.3(AFG3L2):c.1938T>C (p.Ala646=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 387251	NM_006796.3(AFG3L2):c.1933G>A (p.Gly645Ser)	AFG3L2 (G645S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 446808	NM_006796.3(AFG3L2):c.1866G>A (p.Leu622=)	AFG3L2	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 426768	NM_006796.3(AFG3L2):c.1820A>G (p.Gln607Arg)	AFG3L2 (Q607R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 722857	NM_006796.3(AFG3L2):c.1818T>C (p.Ala606=)	AFG3L2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2852657	NM_006796.3(AFG3L2):c.1800C>A (p.Gly600=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 889094	NM_006796.3(AFG3L2):c.1796G>A (p.Arg599His)	AFG3L2 (R599H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1964596	NM_006796.3(AFG3L2):c.1779+10G>A	AFG3L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2053882	NM_006796.3(AFG3L2):c.1779+1G>A	AFG3L2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2416667	NM_006796.3(AFG3L2):c.1770G>T (p.Pro590=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 985683	NM_006796.3(AFG3L2):c.1765G>C (p.Asp589His)	AFG3L2 (D589H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 389397	NM_006796.3(AFG3L2):c.1761C>T (p.His587=)	AFG3L2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1987882	NM_006796.3(AFG3L2):c.1730G>C (p.Gly577Ala)	AFG3L2 (G577A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 889095	NM_006796.3(AFG3L2):c.1706A>C (p.Lys569Thr)	AFG3L2 (K569T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2419052	NM_006796.3(AFG3L2):c.1679C>T (p.Thr560Met)	AFG3L2 (T560M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 136314	NM_006796.3(AFG3L2):c.1664-9T>C	AFG3L2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2698560	NM_006796.3(AFG3L2):c.1663+9A>G	AFG3L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911688	NM_006796.3(AFG3L2):c.1650A>T (p.Glu550Asp)	AFG3L2 (E550D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128287	NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=)	AFG3L2	Single nucleotide variant (synonymous variant)	Optic atrophy 12 +4 more	GBenign
Select item 1208526	NM_006796.3(AFG3L2):c.1616C>A (p.Ser539Tyr)	AFG3L2 (S539Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 724000	NM_006796.3(AFG3L2):c.1554T>C (p.Gly518=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1974893	NM_006796.3(AFG3L2):c.1553-7T>C	AFG3L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918784	NM_006796.3(AFG3L2):c.1553-16T>C	AFG3L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993897	NM_006796.3(AFG3L2):c.1498C>T (p.Leu500=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844590	NM_006796.3(AFG3L2):c.1497C>G (p.Thr499=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728896	NM_006796.3(AFG3L2):c.1479G>A (p.Pro493=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2713183	NM_006796.3(AFG3L2):c.1461C>T (p.Phe487=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2066008	NM_006796.3(AFG3L2):c.1426+10T>A	AFG3L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 214053	NM_006796.3(AFG3L2):c.1397C>T (p.Pro466Leu)	AFG3L2 (P466L)	Single nucleotide variant (missense variant)	Spastic ataxia 5 +2 more	GUncertain significance
Select item 2020506	NM_006796.3(AFG3L2):c.1389G>T (p.Leu463=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 128286	NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=)	AFG3L2	Single nucleotide variant (synonymous variant)	Optic atrophy 12 +4 more	GBenign
Select item 729822	NM_006796.3(AFG3L2):c.1353C>T (p.Ala451=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 805323	NM_006796.3(AFG3L2):c.1328CAA[2] (p.Thr445del)	AFG3L2 (T445del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3013074	NM_006796.3(AFG3L2):c.1319-7C>G	AFG3L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 444428	NM_006796.3(AFG3L2):c.1319-7C>T	AFG3L2	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 28 +2 more	GBenign/Likely benign
Select item 3000781	NM_006796.3(AFG3L2):c.1318+15C>T	AFG3L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2048248	NM_006796.3(AFG3L2):c.1318+6T>A	AFG3L2	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2876689	NM_006796.3(AFG3L2):c.1244A>G (p.Lys415Arg)	AFG3L2 (K415R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063618	NM_006796.3(AFG3L2):c.1239A>G (p.Gly413=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 586456	NM_006796.3(AFG3L2):c.1233G>A (p.Ala411=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2873471	NM_006796.3(AFG3L2):c.1227C>T (p.Ile409=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1301415	NM_006796.3(AFG3L2):c.1219G>A (p.Asp407Asn)	AFG3L2 (D407N)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2911255	NM_006796.3(AFG3L2):c.1218C>T (p.Ile406=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 446807	NM_006796.3(AFG3L2):c.1167C>T (p.Val389=)	AFG3L2	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2971622	NM_006796.3(AFG3L2):c.1165-32_1165-17del	AFG3L2	Deletion (intron variant)	not provided	GLikely benign
Select item 507078	NM_006796.3(AFG3L2):c.1164+18C>T	AFG3L2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1932693	NM_006796.3(AFG3L2):c.1164A>G (p.Arg388=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2157105	NM_006796.3(AFG3L2):c.1146T>C (p.Val382=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2970352	NM_006796.3(AFG3L2):c.1144G>A (p.Val382Ile)	AFG3L2 (V382I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 667529	NM_006796.3(AFG3L2):c.1143C>T (p.Phe381=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794144	NM_006796.3(AFG3L2):c.1119T>C (p.Ser373=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984591	NM_006796.3(AFG3L2):c.1096A>G (p.Asn366Asp)	AFG3L2 (N366D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 668162	NM_006796.3(AFG3L2):c.1065G>A (p.Thr355=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 385335	NM_006796.3(AFG3L2):c.1064C>T (p.Thr355Met)	AFG3L2 (T355M)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2699756	NM_006796.3(AFG3L2):c.1052G>A (p.Gly351Asp)	AFG3L2 (G351D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 586455	NM_006796.3(AFG3L2):c.1040C>G (p.Thr347Ser)	AFG3L2 (T347S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1930277	NM_006796.3(AFG3L2):c.1027-8A>G	AFG3L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908526	NM_006796.3(AFG3L2):c.1027-12T>C	AFG3L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2982044	NM_006796.3(AFG3L2):c.1027-17T>G	AFG3L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1904144	NM_006796.3(AFG3L2):c.1026+14T>A	AFG3L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 136313	NM_006796.3(AFG3L2):c.1026+8G>A	AFG3L2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1905304	NM_006796.3(AFG3L2):c.1026+7T>C	AFG3L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2157106	NM_006796.3(AFG3L2):c.1023A>G (p.Pro341=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2746078	NM_006796.3(AFG3L2):c.908T>C (p.Ile303Thr)	AFG3L2 (I303T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838999	NM_006796.3(AFG3L2):c.901G>C (p.Asp301His)	AFG3L2 (D301H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971290	NM_006796.3(AFG3L2):c.873C>T (p.Val291=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1806912	NM_006796.3(AFG3L2):c.867C>T (p.Phe289=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 393059	NM_006796.3(AFG3L2):c.854T>G (p.Met285Arg)	AFG3L2 (M285R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380294	NM_006796.3(AFG3L2):c.841A>G (p.Thr281Ala)	AFG3L2 (T281A)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1977621	NM_006796.3(AFG3L2):c.840G>A (p.Arg280=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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