ClinVar for Gene (Select 27329) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340384	NM_014495.4(ANGPTL3):c.931+2dup	ANGPTL3, DOCK7	Duplication (intron variant +1 more)	not provided	GUncertain significance
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 3247842	NC_000001.10:g.(?_62976228)_(63153935_?)del	ANGPTL3, DOCK7	Deletion	Developmental and epileptic encephalopathy, 23	GPathogenic
Select item 3247793	NC_000001.10:g.(?_61548464)_(67861772_?)dup	AK4, ALG6 +32 more	Duplication	PGM1-congenital disorder of glycosylation	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 3063221	GRCh37/hg19 1p31.3(chr1:63047044-64769540)x1	ALG6, ANGPTL3 +8 more	Copy number loss	not specified	GUncertain significance
Select item 3062689	GRCh37/hg19 1p32.1-31.3(chr1:60641326-65216639)x1	ALG6, ANGPTL3 +16 more	Copy number loss	not specified	GPathogenic
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	DOCK7, ANGPTL3	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 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=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	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 2579168	GRCh38/hg38 1p31.3(chr1:61077177-62865614)x1	LOC111501769, LOC121725026 +43 more	Copy number loss	Brain malformations with or without urinary tract defects	GPathogenic
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 (missense 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 2439036	NM_014495.4(ANGPTL3):c.280GAA[2] (p.Glu96del)	ANGPTL3, DOCK7 (E96del)	Microsatellite (inframe_deletion +1 more)	Familial hypobetalipoproteinemia 2 +1 more	GUncertain significance
Select item 2425382	NC_000001.10:g.(?_61548464)_(67861772_?)del	AK4, ALG6 +32 more	Deletion	not provided	GPathogenic
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_014495.4(ANGPTL3):c.1147A>T (p.Thr383Ser)	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	DOCK7, ANGPTL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2138041	NM_014495.4(ANGPTL3):c.757G>T (p.Gly253Cys)	ANGPTL3, DOCK7 (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 (missense 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 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)	Familial hypobetalipoproteinemia 2 +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)	Familial hypobetalipoproteinemia 2 +2 more	GConflicting classifications of pathogenicity
Select item 1658470	NM_014495.4(ANGPTL3):c.1199-8T>G	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632406	NM_014495.4(ANGPTL3):c.1098T>C (p.Thr366=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous 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)	Familial hypobetalipoproteinemia 2 +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 1534509	NM_014495.4(ANGPTL3):c.1198+16A>G	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 1455430	NC_000001.10:g.(?_62921085)_(63153935_?)del	ANGPTL3, DOCK7	Deletion	Developmental and epileptic encephalopathy, 23	GPathogenic
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 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 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 1270360	NM_001367561.1(DOCK7):c.1683-11535A>G	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246707	NM_014495.4(ANGPTL3):c.52_60del	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_014495.4(ANGPTL3):c.496-17_496-14del	ANGPTL3, DOCK7	Deletion (intron variant)	Developmental and epileptic encephalopathy, 23 +1 more	GBenign/Likely benign
Select item 1211873	NM_014495.4(ANGPTL3):c.722-233T>C	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204559	NM_014495.4(ANGPTL3):c.835+57T>G	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200737	NM_014495.4(ANGPTL3):c.607-109T>C	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186609	NM_014495.4(ANGPTL3):c.607-47_607-46del	ANGPTL3, DOCK7	Deletion (intron variant)	not provided	GLikely benign
Select item 1186154	NM_014495.4(ANGPTL3):c.1198+111G>A	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178353	NM_014495.4(ANGPTL3):c.721+96C>T	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1177810	NM_014495.4(ANGPTL3):c.1003T>C (p.Leu335=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 23 +1 more	GBenign
Select item 1167253	NM_014495.4(ANGPTL3):c.228C>G (p.Asn76Lys)	ANGPTL3, DOCK7 (N76K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1115180	NM_001367561.1(DOCK7):c.1683-15660C>G	ANGPTL3, DOCK7	Single nucleotide variant (intron variant +1 more)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 1031836	NM_014495.4(ANGPTL3):c.575del (p.Gln192fs)	ANGPTL3, DOCK7 (Q192fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1003419	NC_000001.10:g.(?_63063238)_(63153935_?)dup	ANGPTL3, DOCK7	Duplication	Developmental and epileptic encephalopathy, 23	GUncertain significance
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	L1TD1, LDLRAD1 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 775556	NM_001367561.1(DOCK7):c.1683-15199A>G	ANGPTL3, DOCK7 (M259T)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 23 +1 more	GBenign
Select item 745111	NM_014495.4(ANGPTL3):c.565T>C (p.Leu189=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 666427	Single allele	ROR1, RPE65 +53 more	Deletion	Intellectual disability, severe	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565104	GRCh37/hg19 1p31.3(chr1:62830524-65396403)x1	CACHD1, ANGPTL3 +12 more	Copy number loss	not provided	GUncertain significance
Select item 565103	GRCh37/hg19 1p31.3(chr1:62468555-65584629)x3	KANK4, EFCAB7 +16 more	Copy number gain	not provided	GUncertain significance

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