Related gene-specific medical variations for Gene (Select 85440) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 128

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294194	NM_014495.4(ANGPTL3):c.860A>T (p.His287Leu)	ANGPTL3, DOCK7 (H287L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3294192	NM_014495.4(ANGPTL3):c.1178A>C (p.Asn393Thr)	ANGPTL3, DOCK7 (N393T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3294190	NM_014495.4(ANGPTL3):c.257C>T (p.Ser86Leu)	ANGPTL3, DOCK7 (S86L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3294187	NM_014495.4(ANGPTL3):c.557A>G (p.Tyr186Cys)	ANGPTL3, DOCK7 (Y186C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3247843	NC_000001.10:g.(?_62994928)_(63048945_?)del	DOCK7	Deletion	Developmental and epileptic encephalopathy, 23	GPathogenic
Select item 3247841	NC_000001.10:g.(?_63027268)_(63027394_?)del	DOCK7	Deletion	Developmental and epileptic encephalopathy, 23	GUncertain significance
Select item 3118624	NM_014495.4(ANGPTL3):c.40G>C (p.Val14Leu)	ANGPTL3, DOCK7 (V14L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3118619	NM_014495.4(ANGPTL3):c.386A>G (p.Glu129Gly)	ANGPTL3, DOCK7 (E129G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3118617	NM_014495.4(ANGPTL3):c.349T>G (p.Ser117Ala)	ANGPTL3, DOCK7 (S117A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3118610	NM_014495.4(ANGPTL3):c.291G>T (p.Lys97Asn)	ANGPTL3, DOCK7 (K97N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3118605	NM_014495.4(ANGPTL3):c.1365T>G (p.Asp455Glu)	ANGPTL3, DOCK7 (D455E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3067984	NM_001367561.1(DOCK7):c.884del (p.Lys295fs)	DOCK7 (K295fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 23	GLikely pathogenic
Select item 3067856	NM_001367561.1(DOCK7):c.4120-1G>T	DOCK7	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 23	GLikely pathogenic
Select item 3058367	NM_001367561.1(DOCK7):c.1683-12066T>A	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	DOCK7-related disorder	GLikely benign
Select item 3058143	NM_014495.4(ANGPTL3):c.691T>C (p.Leu231=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	ANGPTL3-related disorder	GLikely benign
Select item 3032322	NM_014495.4(ANGPTL3):c.69T>C (p.Asn23=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	ANGPTL3-related disorder	GLikely benign
Select item 2971185	NM_014495.4(ANGPTL3):c.1326C>T (p.Tyr442=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2959742	NM_014495.4(ANGPTL3):c.1092G>C (p.Ala364=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2894743	NM_014495.4(ANGPTL3):c.243T>C (p.Ser81=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2893114	NM_014495.4(ANGPTL3):c.835+1G>C	ANGPTL3, DOCK7	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2890775	NM_014495.4(ANGPTL3):c.496-16T>A	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877024	NM_014495.4(ANGPTL3):c.931+7G>A	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828374	NM_014495.4(ANGPTL3):c.378C>T (p.Ser126=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2805836	NM_014495.4(ANGPTL3):c.1122G>C (p.Pro374=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2752879	NM_001367561.1(DOCK7):c.38+12G>A	DOCK7, LOC129930655	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2743270	NM_014495.4(ANGPTL3):c.1194T>C (p.Tyr398=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2739307	NM_014495.4(ANGPTL3):c.1089T>G (p.Val363=)	DOCK7, ANGPTL3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2717665	NM_014495.4(ANGPTL3):c.207T>C (p.Asn69=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638866	NM_014495.4(ANGPTL3):c.42T>G (p.Val14=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2623332	NM_014495.4(ANGPTL3):c.1069A>G (p.Asn357Asp)	ANGPTL3, DOCK7 (N357D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590124	NM_014495.4(ANGPTL3):c.1309C>A (p.Gln437Lys)	ANGPTL3, DOCK7 (Q437K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547491	NM_014495.4(ANGPTL3):c.679C>T (p.Pro227Ser)	ANGPTL3, DOCK7 (P227S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525900	NM_014495.4(ANGPTL3):c.950dup (p.Glu318fs)	ANGPTL3, DOCK7 (E318fs)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2491898	NM_014495.4(ANGPTL3):c.63A>C (p.Gln21His)	ANGPTL3, DOCK7 (Q21H)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475372	NM_014495.4(ANGPTL3):c.848C>T (p.Thr283Ile)	ANGPTL3, DOCK7 (T283I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2441820	NM_001367561.1(DOCK7):c.5494-4A>G	DOCK7	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GUncertain significance
Select item 2440989	NM_001367561.1(DOCK7):c.5770G>A (p.Glu1924Lys)	DOCK7 (E1882K +5 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23	GUncertain significance
Select item 2439905	NM_001367561.1(DOCK7):c.1005_1011del (p.Pro336fs)	DOCK7 (P336fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 23	GLikely pathogenic
Select item 2439036	NM_014495.4(ANGPTL3):c.280GAA[2] (p.Glu96del)	ANGPTL3, DOCK7 (E96del)	Microsatellite (inframe_deletion +1 more)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 2401812	NM_014495.4(ANGPTL3):c.1218T>G (p.Asp406Glu)	ANGPTL3, DOCK7 (D406E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308369	NM_014495.4(ANGPTL3):c.1142T>C (p.Phe381Ser)	ANGPTL3, DOCK7 (F381S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265285	NM_014495.4(ANGPTL3):c.577C>T (p.His193Tyr)	ANGPTL3, DOCK7 (H193Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263983	NM_014495.4(ANGPTL3):c.305C>T (p.Thr102Ile)	ANGPTL3, DOCK7 (T102I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244272	NM_014495.4(ANGPTL3):c.941G>C (p.Trp314Ser)	ANGPTL3, DOCK7 (W314S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241182	NM_014495.4(ANGPTL3):c.607C>G (p.Leu203Val)	ANGPTL3, DOCK7 (L203V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233699	NM_014495.4(ANGPTL3):c.515A>G (p.Asp172Gly)	ANGPTL3, DOCK7 (D172G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229026	NM_014495.4(ANGPTL3):c.217C>A (p.Gln73Lys)	ANGPTL3, DOCK7 (Q73K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227642	NM_014495.4(ANGPTL3):c.829A>G (p.Ile277Val)	ANGPTL3, DOCK7 (I277V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2197337	NM_001367561.1(DOCK7):c.1682+14522T>A	ANGPTL3, DOCK7 (T383S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2167665	NM_014495.4(ANGPTL3):c.835+13T>A	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2138041	NM_014495.4(ANGPTL3):c.757G>T (p.Gly253Cys)	DOCK7, ANGPTL3 (G253C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2138040	NM_014495.4(ANGPTL3):c.352C>T (p.Leu118Phe)	ANGPTL3, DOCK7 (L118F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2121304	NM_014495.4(ANGPTL3):c.866T>A (p.Ile289Lys)	ANGPTL3, DOCK7 (I289K)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2120397	NM_014495.4(ANGPTL3):c.1091C>G (p.Ala364Gly)	ANGPTL3, DOCK7 (A364G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2097260	NM_014495.4(ANGPTL3):c.926T>C (p.Leu309Pro)	ANGPTL3, DOCK7 (L309P)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2066772	NM_014495.4(ANGPTL3):c.1122G>A (p.Pro374=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2053472	NM_001367561.1(DOCK7):c.23C>T (p.Ala8Val)	LOC129930655, DOCK7 (A8V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23	GUncertain significance
Select item 2026872	NM_001367561.1(DOCK7):c.27G>A (p.Gln9=)	DOCK7, LOC129930655	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2024202	NM_001367561.1(DOCK7):c.38+11G>A	DOCK7, LOC129930655	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2000135	NM_014495.4(ANGPTL3):c.925C>T (p.Leu309Phe)	ANGPTL3, DOCK7 (L309F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1963538	NM_014495.4(ANGPTL3):c.1104T>C (p.Asn368=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1947363	NM_014495.4(ANGPTL3):c.19CTT[1] (p.Leu8del)	ANGPTL3, DOCK7 (L8del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1937707	NM_014495.4(ANGPTL3):c.73T>C (p.Ser25Pro)	ANGPTL3, DOCK7 (S25P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1932982	NM_014495.4(ANGPTL3):c.1298C>T (p.Ser433Phe)	ANGPTL3, DOCK7 (S433F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1804410	NM_014495.4(ANGPTL3):c.653C>G (p.Ser218Cys)	ANGPTL3, DOCK7 (S218C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1803867	NM_014495.4(ANGPTL3):c.995G>A (p.Arg332Gln)	ANGPTL3, DOCK7 (R332Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1803843	NM_014495.4(ANGPTL3):c.956A>G (p.Lys319Arg)	ANGPTL3, DOCK7 (K319R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1658470	NM_001367561.1(DOCK7):c.1682+14081A>C	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1648889	NM_001367561.1(DOCK7):c.38+12G>C	DOCK7, LOC129930655	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GBenign
Select item 1632406	NM_014495.4(ANGPTL3):c.1098T>C (p.Thr366=)	ANGPTL3, DOCK7	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1580782	NM_014495.4(ANGPTL3):c.1028A>G (p.His343Arg)	ANGPTL3, DOCK7 (H343R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1573268	NM_014495.4(ANGPTL3):c.1112A>G (p.Asn371Ser)	ANGPTL3, DOCK7 (N371S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1542338	NM_001367561.1(DOCK7):c.38+10C>T	DOCK7, LOC129930655	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 1534509	NM_001367561.1(DOCK7):c.1682+14455T>C	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1531513	NM_014495.4(ANGPTL3):c.912T>C (p.Tyr304=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1518946	NM_014495.4(ANGPTL3):c.766A>G (p.Thr256Ala)	ANGPTL3, DOCK7 (T256A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1465177	NM_014495.4(ANGPTL3):c.71C>T (p.Ser24Leu)	ANGPTL3, DOCK7 (S24L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1457637	NM_014495.4(ANGPTL3):c.579T>C (p.His193=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1421587	NM_014495.4(ANGPTL3):c.667C>T (p.Pro223Ser)	ANGPTL3, DOCK7 (P223S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1416386	NM_001367561.1(DOCK7):c.26AGA[1] (p.Lys10del)	DOCK7, LOC129930655 (K10del)	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 23	GUncertain significance
Select item 1374797	NM_014495.4(ANGPTL3):c.998T>G (p.Ile333Ser)	ANGPTL3, DOCK7 (I333S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1363700	NM_014495.4(ANGPTL3):c.272A>G (p.Glu91Gly)	ANGPTL3, DOCK7 (E91G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1355528	NM_001367561.1(DOCK7):c.38+16G>A	DOCK7, LOC129930655	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GUncertain significance
Select item 1325627	NM_001367561.1(DOCK7):c.389+2061A>G	DOCK7	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GUncertain significance
Select item 1300915	NM_001367561.1(DOCK7):c.38+62C>T	DOCK7, LOC129930655	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300913	NM_001367561.1(DOCK7):c.1682+14358_1682+14359del	ANGPTL3, DOCK7	Deletion (intron variant)	not provided	GLikely benign
Select item 1300785	NM_001367561.1(DOCK7):c.1683-10929T>G	ANGPTL3, DOCK7	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1300742	NM_001367561.1(DOCK7):c.38+66C>G	DOCK7, LOC129930655	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300662	NM_001367561.1(DOCK7):c.-112C>A	DOCK7, LOC129930655	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1300655	NM_001367561.1(DOCK7):c.-58G>C	DOCK7, LOC129930655	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1296252	NM_001367561.1(DOCK7):c.-18G>A	DOCK7, LOC129930655	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 1270360	NM_001367561.1(DOCK7):c.1683-11535A>G	DOCK7, ANGPTL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266861	NM_001367561.1(DOCK7):c.38+32G>C	DOCK7, LOC129930655	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1246707	NM_001367561.1(DOCK7):c.1682+13831_1682+13839del	ANGPTL3, DOCK7	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1245150	NM_001367561.1(DOCK7):c.1683-16004C>T	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212517	NM_001367561.1(DOCK7):c.1683-12056_1683-12053del	ANGPTL3, DOCK7	Deletion (intron variant)	Developmental and epileptic encephalopathy, 23 +1 more	GBenign/Likely benign
Select item 1211873	NM_001367561.1(DOCK7):c.1683-14912A>G	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204559	NM_001367561.1(DOCK7):c.1683-15315A>C	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200737	NM_001367561.1(DOCK7):c.1683-14349A>G	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186609	NM_001367561.1(DOCK7):c.1683-14411_1683-14410del	ANGPTL3, DOCK7	Deletion (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 2