ClinVar for Gene (Select 23130) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 179

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3390873	dup(11)(q13.1q13.1)	ARL2, ATG2A +74 more	Duplication	Ependymoma	OLikely oncogenic
Select item 3321087	NM_015104.3(ATG2A):c.4385A>C (p.Asn1462Thr)	ATG2A (N1454T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321077	NM_015104.3(ATG2A):c.4216C>A (p.Leu1406Met)	ATG2A (L1406M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321070	NM_015104.3(ATG2A):c.4388G>A (p.Arg1463Gln)	ATG2A (R1463Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321059	NM_015104.3(ATG2A):c.1300G>A (p.Val434Met)	ATG2A (V434M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3321048	NM_015104.3(ATG2A):c.5656G>A (p.Val1886Met)	ATG2A (V1880M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321038	NM_015104.3(ATG2A):c.4027G>C (p.Glu1343Gln)	ATG2A (E1343Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321030	NM_015104.3(ATG2A):c.236C>T (p.Ser79Phe)	ATG2A (S79F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321020	NM_015104.3(ATG2A):c.548G>A (p.Gly183Asp)	ATG2A (G183D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321011	NM_015104.3(ATG2A):c.5614G>A (p.Val1872Met)	ATG2A (V1864M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321002	NM_015104.3(ATG2A):c.1783G>A (p.Val595Met)	ATG2A (V595M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320992	NM_015104.3(ATG2A):c.3883C>T (p.Arg1295Trp)	ATG2A (R1295W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320982	NM_015104.3(ATG2A):c.3125G>T (p.Gly1042Val)	ATG2A (G1034V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320972	NM_015104.3(ATG2A):c.325C>T (p.Arg109Trp)	ATG2A (R109W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320962	NM_015104.3(ATG2A):c.2812A>G (p.Thr938Ala)	ATG2A (T930A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320950	NM_015104.3(ATG2A):c.1327G>A (p.Ala443Thr)	ATG2A (A443T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320939	NM_015104.3(ATG2A):c.3758C>T (p.Thr1253Met)	ATG2A (T1245M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320930	NM_015104.3(ATG2A):c.2807G>A (p.Arg936Gln)	ATG2A (R928Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320921	NM_015104.3(ATG2A):c.2590G>A (p.Gly864Ser)	ATG2A (G864S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320910	NM_015104.3(ATG2A):c.1274C>T (p.Ser425Leu)	ATG2A (S425L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320902	NM_015104.3(ATG2A):c.5710G>A (p.Ala1904Thr)	ATG2A (A1896T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130946	NM_015104.3(ATG2A):c.932G>T (p.Gly311Val)	ATG2A (G311V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130945	NM_015104.3(ATG2A):c.932G>A (p.Gly311Asp)	ATG2A (G311D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130944	NM_015104.3(ATG2A):c.761G>A (p.Ser254Asn)	ATG2A (S254N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130943	NM_015104.3(ATG2A):c.719C>T (p.Pro240Leu)	ATG2A (P240L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130941	NM_015104.3(ATG2A):c.545C>T (p.Pro182Leu)	ATG2A (P182L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130940	NM_015104.3(ATG2A):c.5335A>C (p.Met1779Leu)	ATG2A (M1773L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130938	NM_015104.3(ATG2A):c.4862G>A (p.Arg1621His)	ATG2A (R1615H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3130937	NM_015104.3(ATG2A):c.4738G>A (p.Val1580Ile)	ATG2A (V1574I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130936	NM_015104.3(ATG2A):c.4736G>A (p.Arg1579His)	ATG2A (R1573H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130935	NM_015104.3(ATG2A):c.4586G>A (p.Arg1529Gln)	ATG2A (R1521Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130934	NM_015104.3(ATG2A):c.4567G>A (p.Val1523Met)	ATG2A (V1517M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130933	NM_015104.3(ATG2A):c.4412A>G (p.Gln1471Arg)	ATG2A (Q1463R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130932	NM_015104.3(ATG2A):c.4354A>G (p.Arg1452Gly)	ATG2A (R1444G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130931	NM_015104.3(ATG2A):c.4279G>A (p.Val1427Ile)	ATG2A (V1419I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130930	NM_015104.3(ATG2A):c.4168G>A (p.Val1390Ile)	ATG2A (V1384I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3130928	NM_015104.3(ATG2A):c.370T>C (p.Cys124Arg)	ATG2A (C124R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130927	NM_015104.3(ATG2A):c.3515A>T (p.Glu1172Val)	ATG2A (E1164V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130926	NM_015104.3(ATG2A):c.3391C>T (p.Arg1131Cys)	ATG2A (R1131C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130925	NM_015104.3(ATG2A):c.3058A>G (p.Thr1020Ala)	ATG2A (T1012A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130924	NM_015104.3(ATG2A):c.3041C>T (p.Pro1014Leu)	ATG2A (P1006L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130923	NM_015104.3(ATG2A):c.298G>A (p.Gly100Ser)	ATG2A (G100S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130922	NM_015104.3(ATG2A):c.2725G>A (p.Gly909Ser)	ATG2A (G901S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130921	NM_015104.3(ATG2A):c.2473C>G (p.Pro825Ala)	ATG2A (P825A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130920	NM_015104.3(ATG2A):c.2167G>T (p.Asp723Tyr)	ATG2A (D723Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130919	NM_015104.3(ATG2A):c.199G>C (p.Glu67Gln)	ATG2A (E67Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130918	NM_015104.3(ATG2A):c.1823G>A (p.Arg608His)	ATG2A (R608H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3130917	NM_015104.3(ATG2A):c.179A>T (p.Asn60Ile)	ATG2A (N60I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130916	NM_015104.3(ATG2A):c.1795G>T (p.Ala599Ser)	ATG2A (A599S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130915	NM_015104.3(ATG2A):c.1718G>A (p.Arg573Gln)	ATG2A (R573Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130912	NM_015104.3(ATG2A):c.157C>T (p.His53Tyr)	ATG2A (H53Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130911	NM_015104.3(ATG2A):c.1517G>A (p.Arg506Gln)	ATG2A (R506Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130910	NM_015104.3(ATG2A):c.1508C>A (p.Thr503Lys)	ATG2A (T503K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130909	NM_015104.3(ATG2A):c.1507A>T (p.Thr503Ser)	ATG2A (T503S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130908	NM_015104.3(ATG2A):c.1495T>C (p.Trp499Arg)	ATG2A (W499R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130907	NM_015104.3(ATG2A):c.1483G>A (p.Val495Met)	ATG2A (V495M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130906	NM_015104.3(ATG2A):c.1229G>A (p.Gly410Asp)	ATG2A (G410D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130905	NM_015104.3(ATG2A):c.106G>C (p.Asp36His)	ATG2A (D36H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684648	GRCh37/hg19 11q13.1(chr11:64573225-65193732)x3	GPHA2, POLA2 +29 more	Copy number gain	not provided	GUncertain significance
Select item 2684647	GRCh37/hg19 11q13.1(chr11:64557855-64741375)x3	ATG2A, CDC42BPG +8 more	Copy number gain	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2641940	NM_015104.3(ATG2A):c.1950C>T (p.Ala650=)	ATG2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641939	NM_015104.3(ATG2A):c.2989G>A (p.Val997Met)	ATG2A (V989M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2641938	NM_015104.3(ATG2A):c.4104C>T (p.Pro1368=)	ATG2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641937	NM_015104.3(ATG2A):c.4465-4A>G	ATG2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2623269	NM_015104.3(ATG2A):c.5672G>A (p.Arg1891His)	ATG2A (R1883H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622008	NM_015104.3(ATG2A):c.5506C>T (p.Arg1836Trp)	ATG2A (R1830W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621794	NM_015104.3(ATG2A):c.3736C>A (p.Pro1246Thr)	ATG2A (P1238T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602612	NM_015104.3(ATG2A):c.2108G>T (p.Gly703Val)	ATG2A (G703V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600025	NM_015104.3(ATG2A):c.1199G>A (p.Arg400His)	ATG2A (R400H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596821	NM_015104.3(ATG2A):c.410G>A (p.Arg137Gln)	ATG2A (R137Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593707	NM_015104.3(ATG2A):c.3901T>C (p.Ser1301Pro)	ATG2A (S1293P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592178	NM_015104.3(ATG2A):c.4915G>A (p.Val1639Ile)	ATG2A (V1631I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590471	NM_015104.3(ATG2A):c.3601G>A (p.Glu1201Lys)	ATG2A (E1201K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2572303	NM_015104.3(ATG2A):c.3131A>C (p.His1044Pro)	ATG2A (H1036P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570003	NM_015104.3(ATG2A):c.3737C>G (p.Pro1246Arg)	ATG2A (P1246R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558503	NM_015104.3(ATG2A):c.1081A>G (p.Asn361Asp)	ATG2A (N361D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557917	NM_015104.3(ATG2A):c.5116G>C (p.Glu1706Gln)	ATG2A (E1700Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551374	NM_015104.3(ATG2A):c.1987G>C (p.Ala663Pro)	ATG2A (A663P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550430	NM_015104.3(ATG2A):c.3814C>G (p.Pro1272Ala)	ATG2A (P1266A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545509	NM_015104.3(ATG2A):c.646G>T (p.Val216Leu)	ATG2A (V216L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540635	NM_015104.3(ATG2A):c.5009C>T (p.Thr1670Met)	ATG2A (T1662M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538954	NM_015104.3(ATG2A):c.658C>A (p.Pro220Thr)	ATG2A (P220T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538690	NM_015104.3(ATG2A):c.3824C>T (p.Thr1275Met)	ATG2A (T1275M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2537425	NM_015104.3(ATG2A):c.2953G>A (p.Glu985Lys)	ATG2A (E977K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529926	NM_015104.3(ATG2A):c.1714C>T (p.Pro572Ser)	ATG2A (P572S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515343	NM_015104.3(ATG2A):c.2566G>A (p.Ala856Thr)	ATG2A (A856T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512038	NM_015104.3(ATG2A):c.1433G>T (p.Arg478Leu)	ATG2A (R478L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511607	NM_015104.3(ATG2A):c.5479C>T (p.Arg1827Cys)	ATG2A (R1821C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510789	NM_015104.3(ATG2A):c.3628G>C (p.Glu1210Gln)	ATG2A (E1210Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479798	NM_015104.3(ATG2A):c.2237G>T (p.Ser746Ile)	ATG2A (S746I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475299	NM_015104.3(ATG2A):c.757G>A (p.Gly253Ser)	ATG2A (G253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475261	NM_015104.3(ATG2A):c.422C>T (p.Pro141Leu)	ATG2A (P141L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471633	NM_015104.3(ATG2A):c.3789T>A (p.Ser1263Arg)	ATG2A (S1257R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469603	NM_015104.3(ATG2A):c.2308C>T (p.Arg770Trp)	ATG2A (R770W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469128	NM_015104.3(ATG2A):c.1895C>T (p.Thr632Met)	ATG2A (T632M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468806	NM_015104.3(ATG2A):c.2059G>A (p.Gly687Ser)	ATG2A (G687S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468029	NM_015104.3(ATG2A):c.1693C>T (p.Arg565Cys)	ATG2A (R565C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466833	NM_015104.3(ATG2A):c.5050G>A (p.Val1684Ile)	ATG2A (V1676I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2