ClinVar for Gene (Select 23141) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 272

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244416	NC_000012.11:g.(?_133248873)_(133501664_?)del	GOLGA3, PGAM5 +5 more	Deletion	not provided	GPathogenic
Select item 3235060	NM_015114.3(ANKLE2):c.997C>T (p.Pro333Ser)	ANKLE2 (P333S)	Single nucleotide variant (missense variant)	Microcephaly 16, primary, autosomal recessive	GUncertain significance
Select item 3235059	NM_015114.3(ANKLE2):c.1184G>A (p.Arg395His)	ANKLE2 (R395H)	Single nucleotide variant (missense variant)	Microcephaly 16, primary, autosomal recessive	GUncertain significance
Select item 3121724	NM_015114.3(ANKLE2):c.914G>A (p.Arg305His)	ANKLE2 (R305H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121722	NM_015114.3(ANKLE2):c.8G>C (p.Trp3Ser)	ANKLE2 (W3S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121717	NM_015114.3(ANKLE2):c.797C>G (p.Pro266Arg)	ANKLE2 (P266R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121699	NM_015114.3(ANKLE2):c.38C>G (p.Ala13Gly)	ANKLE2 (A13G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121698	NM_015114.3(ANKLE2):c.382A>G (p.Thr128Ala)	ANKLE2 (T128A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121676	NM_015114.3(ANKLE2):c.2804T>G (p.Leu935Arg)	ANKLE2 (L935R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3121663	NM_015114.3(ANKLE2):c.2659C>T (p.Pro887Ser)	ANKLE2 (P887S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121653	NM_015114.3(ANKLE2):c.260C>T (p.Ala87Val)	ANKLE2 (A87V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121636	NM_015114.3(ANKLE2):c.23C>T (p.Ala8Val)	ANKLE2 (A8V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121635	NM_015114.3(ANKLE2):c.2362A>G (p.Arg788Gly)	ANKLE2 (R788G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121630	NM_015114.3(ANKLE2):c.2236C>T (p.Arg746Cys)	ANKLE2 (R746C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121603	NM_015114.3(ANKLE2):c.1958A>G (p.Asn653Ser)	ANKLE2 (N653S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121598	NM_015114.3(ANKLE2):c.1916C>T (p.Ala639Val)	ANKLE2 (A639V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121571	NM_015114.3(ANKLE2):c.1599A>T (p.Glu533Asp)	ANKLE2 (E533D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121564	NM_015114.3(ANKLE2):c.1538C>A (p.Pro513His)	ANKLE2 (P513H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3121555	NM_015114.3(ANKLE2):c.1495C>A (p.Gln499Lys)	ANKLE2 (Q499K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121533	NM_015114.3(ANKLE2):c.1234T>A (p.Tyr412Asn)	ANKLE2 (Y412N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121516	NM_015114.3(ANKLE2):c.1117G>A (p.Val373Ile)	ANKLE2 (V373I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121507	NM_015114.3(ANKLE2):c.1060G>T (p.Val354Leu)	ANKLE2 (V354L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3064430	NM_015114.3(ANKLE2):c.473G>T (p.Gly158Val)	ANKLE2 (G158V)	Single nucleotide variant (missense variant)	Microcephaly 16, primary, autosomal recessive	GUncertain significance
Select item 3061493	NM_015114.3(ANKLE2):c.2136G>A (p.Ala712=)	ANKLE2	Single nucleotide variant (synonymous variant)	ANKLE2-related disorder	GLikely benign
Select item 3055782	NM_015114.3(ANKLE2):c.2730A>G (p.Pro910=)	ANKLE2	Single nucleotide variant (synonymous variant)	ANKLE2-related disorder	GLikely benign
Select item 3054584	NM_015114.3(ANKLE2):c.2011C>T (p.His671Tyr)	ANKLE2 (H671Y)	Single nucleotide variant (missense variant)	ANKLE2-related disorder	GLikely benign
Select item 3051107	NM_015114.3(ANKLE2):c.1892-11_1892-9del	ANKLE2	Microsatellite (intron variant)	ANKLE2-related disorder	GLikely benign
Select item 3048920	NM_015114.3(ANKLE2):c.1992C>G (p.Pro664=)	ANKLE2	Single nucleotide variant (synonymous variant)	ANKLE2-related disorder	GLikely benign
Select item 3044232	NM_015114.3(ANKLE2):c.2100G>A (p.Gly700=)	ANKLE2	Single nucleotide variant (synonymous variant)	ANKLE2-related disorder	GLikely benign
Select item 3036132	NM_015114.3(ANKLE2):c.*8G>A	ANKLE2	Single nucleotide variant (3 prime UTR variant)	ANKLE2-related disorder	GLikely benign
Select item 3033904	NM_015114.3(ANKLE2):c.2189C>T (p.Ser730Leu)	ANKLE2 (S730L)	Single nucleotide variant (missense variant)	ANKLE2-related disorder	GLikely benign
Select item 3025233	NM_015114.3(ANKLE2):c.1296G>A (p.Ser432=)	ANKLE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684689	GRCh37/hg19 12q24.33(chr12:133187938-133383618)x3	ANKLE2, GOLGA3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2623899	NM_015114.3(ANKLE2):c.167C>T (p.Ala56Val)	ANKLE2 (A56V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623186	NM_015114.3(ANKLE2):c.1978A>G (p.Asn660Asp)	ANKLE2 (N660D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617969	NM_015114.3(ANKLE2):c.1162G>A (p.Asp388Asn)	ANKLE2 (D388N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616340	NM_015114.3(ANKLE2):c.368A>G (p.His123Arg)	ANKLE2 (H123R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588600	NM_015114.3(ANKLE2):c.2015C>T (p.Thr672Met)	ANKLE2 (T672M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2577799	NM_015114.3(ANKLE2):c.1516G>A (p.Val506Ile)	ANKLE2 (V506I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2556579	NM_015114.3(ANKLE2):c.881A>T (p.Asn294Ile)	ANKLE2 (N294I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545462	NM_015114.3(ANKLE2):c.2158C>T (p.Arg720Cys)	ANKLE2 (R720C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2515276	NM_015114.3(ANKLE2):c.2065G>A (p.Ala689Thr)	ANKLE2 (A689T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510753	NM_015114.3(ANKLE2):c.2453G>C (p.Arg818Thr)	ANKLE2 (R818T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507210	NM_015114.3(ANKLE2):c.*117G>A	ANKLE2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2505012	NM_015114.3(ANKLE2):c.1645T>G (p.Phe549Val)	ANKLE2 (F549V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502763	NM_015114.3(ANKLE2):c.1418A>G (p.Lys473Arg)	ANKLE2 (K473R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2491738	NM_015114.3(ANKLE2):c.2603C>T (p.Ser868Leu)	ANKLE2 (S868L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484463	NM_015114.3(ANKLE2):c.1988C>A (p.Pro663Gln)	ANKLE2 (P663Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2483669	NM_015114.3(ANKLE2):c.2643G>T (p.Arg881Ser)	ANKLE2 (R881S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472883	NM_015114.3(ANKLE2):c.343G>A (p.Gly115Arg)	ANKLE2 (G115R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2466327	NM_015114.3(ANKLE2):c.410T>G (p.Ile137Ser)	ANKLE2 (I137S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464213	NM_015114.3(ANKLE2):c.2567A>G (p.His856Arg)	ANKLE2 (H856R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462311	NM_015114.3(ANKLE2):c.569C>T (p.Ala190Val)	ANKLE2 (A190V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2443912	NM_015114.3(ANKLE2):c.1891+1701_2615+14delinsA	ANKLE2	Indel (splice acceptor variant +1 more)	Microcephaly 16, primary, autosomal recessive	GPathogenic
Select item 2443910	NM_015114.3(ANKLE2):c.706C>T (p.Arg236Ter)	ANKLE2	Single nucleotide variant (nonsense)	Microcephaly 16, primary, autosomal recessive	GPathogenic
Select item 2410122	NM_015114.3(ANKLE2):c.2579G>C (p.Ser860Thr)	ANKLE2 (S860T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2392123	NM_015114.3(ANKLE2):c.1625C>T (p.Pro542Leu)	ANKLE2 (P542L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381091	NM_015114.3(ANKLE2):c.2780G>A (p.Arg927His)	ANKLE2 (R927H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379098	NM_015114.3(ANKLE2):c.550G>A (p.Asp184Asn)	ANKLE2 (D184N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2375460	NM_015114.3(ANKLE2):c.2077G>A (p.Gly693Ser)	ANKLE2 (G693S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2372843	NM_015114.3(ANKLE2):c.1036G>A (p.Val346Met)	ANKLE2 (V346M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356166	NM_015114.3(ANKLE2):c.2155C>A (p.Pro719Thr)	ANKLE2 (P719T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354885	NM_015114.3(ANKLE2):c.2761G>A (p.Val921Met)	ANKLE2 (V921M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350555	NM_015114.3(ANKLE2):c.2072C>T (p.Pro691Leu)	ANKLE2 (P691L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2350180	NM_015114.3(ANKLE2):c.110C>G (p.Pro37Arg)	ANKLE2 (P37R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2338855	NM_015114.3(ANKLE2):c.409A>G (p.Ile137Val)	ANKLE2 (I137V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331590	NM_015114.3(ANKLE2):c.1727C>A (p.Pro576His)	ANKLE2 (P576H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312792	NM_015114.3(ANKLE2):c.297G>T (p.Arg99Ser)	ANKLE2 (R99S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289111	NM_015114.3(ANKLE2):c.148C>T (p.Pro50Ser)	ANKLE2 (P50S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288016	NM_015114.3(ANKLE2):c.131G>T (p.Arg44Leu)	ANKLE2 (R44L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287019	NM_015114.3(ANKLE2):c.1886C>T (p.Thr629Met)	ANKLE2 (T629M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2281265	NM_015114.3(ANKLE2):c.625G>A (p.Val209Ile)	ANKLE2 (V209I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2266224	NM_015114.3(ANKLE2):c.282T>G (p.Ile94Met)	ANKLE2 (I94M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247002	NM_015114.3(ANKLE2):c.2219A>T (p.Asn740Ile)	ANKLE2 (N740I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246694	NM_015114.3(ANKLE2):c.310A>G (p.Lys104Glu)	ANKLE2 (K104E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246614	NM_015114.3(ANKLE2):c.1312G>T (p.Val438Leu)	ANKLE2 (V438L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231729	NM_015114.3(ANKLE2):c.175G>C (p.Ala59Pro)	ANKLE2 (A59P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230345	NM_015114.3(ANKLE2):c.2616-4G>A	ANKLE2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2230115	NM_015114.3(ANKLE2):c.1656C>A (p.His552Gln)	ANKLE2 (H552Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230070	NM_015114.3(ANKLE2):c.1448C>T (p.Ala483Val)	ANKLE2 (A483V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228460	NM_015114.3(ANKLE2):c.485G>A (p.Gly162Asp)	ANKLE2 (G162D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219439	NM_015114.3(ANKLE2):c.1999G>A (p.Gly667Ser)	ANKLE2 (G667S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211418	NM_015114.3(ANKLE2):c.1158T>A (p.Asp386Glu)	ANKLE2 (D386E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808265	GRCh37/hg19 12q24.33(chr12:133228857-133455925)x3	ANKLE2, CHFR +4 more	Copy number gain	not provided	GUncertain significance
Select item 1803681	NM_015114.3(ANKLE2):c.1625dup (p.Pro543fs)	ANKLE2 (P543fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1710829	NM_015114.3(ANKLE2):c.1041+5G>T	ANKLE2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1708699	NM_015114.3(ANKLE2):c.230C>T (p.Pro77Leu)	ANKLE2 (P77L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701219	NM_015114.3(ANKLE2):c.27C>T (p.Ala9=)	ANKLE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1700998	NM_015114.3(ANKLE2):c.1400G>A (p.Arg467Gln)	ANKLE2 (R467Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1425930	NC_000012.11:g.(?_133236030)_(133676672_?)del	ANKLE2, CHFR +8 more	Deletion	not provided	GPathogenic
Select item 1341648	NM_015114.3(ANKLE2):c.2681G>A (p.Ser894Asn)	ANKLE2 (S894N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1341647	NM_015114.3(ANKLE2):c.1130C>T (p.Pro377Leu)	ANKLE2 (P377L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341278	GRCh37/hg19 12q24.33(chr12:133187500-133592221)x3	ANKLE2, CHFR +7 more	Copy number gain	not provided	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 1327768	NM_015114.3(ANKLE2):c.2260G>T (p.Glu754Ter)	ANKLE2 (E754*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1315223	NM_015114.3(ANKLE2):c.109C>G (p.Pro37Ala)	ANKLE2 (P37A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313754	NM_015114.3(ANKLE2):c.1042-3C>G	ANKLE2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1313753	NM_015114.3(ANKLE2):c.1678A>G (p.Arg560Gly)	ANKLE2 (R560G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 3