491[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +421 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	AK4, ALG6 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC132088736, LOC132088737 +557 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +275 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	LOC126805749, LOC126805750 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	LOC129930732, LOC129930733 +269 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	AK4, ALG6 +252 more	Copy number loss	See cases	GPathogenic
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 57304	GRCh38/hg38 1p31.3(chr1:61258246-63189366)x3	ANGPTL3, ATG4C +44 more	Copy number gain	See cases	GUncertain significance
Select item 58081	GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3	AK4, ALG6 +129 more	Copy number gain	See cases	GPathogenic
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 1947363	NM_014495.4(ANGPTL3):c.19CTT[1] (p.Leu8del)	ANGPTL3, DOCK7 (L8del)	Microsatellite (inframe_deletion +1 more)	not provided	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 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 18439	NM_014495.4(ANGPTL3):c.50_51delinsGA (p.Ser17Ter)	DOCK7, ANGPTL3 (S17*)	Indel (nonsense +1 more)	Familial hypobetalipoproteinemia 2	GPathogenic
Select item 91864	NM_014495.4(ANGPTL3):c.55del (p.Ile19fs)	ANGPTL3, DOCK7 (I19fs)	Deletion (frameshift variant +1 more)	Familial hypobetalipoproteinemia 2	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 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 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 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 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 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 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 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 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 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 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 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 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 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 91866	NM_014495.4(ANGPTL3):c.363_367del (p.Asn121fs)	ANGPTL3, DOCK7 (N121fs)	Microsatellite (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 23 +2 more	GPathogenic
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 377251	NM_014495.4(ANGPTL3):c.379C>T (p.Leu127Phe)	DOCK7, ANGPTL3 (L127F)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 23 +1 more	GBenign/Likely benign
Select item 18440	NM_014495.4(ANGPTL3):c.385G>T (p.Glu129Ter)	ANGPTL3, DOCK7 (E129*)	Single nucleotide variant (nonsense +1 more)	Familial hypobetalipoproteinemia 2	GPathogenic
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 91865	NM_014495.4(ANGPTL3):c.439_442del (p.Thr146_Asn147insTer)	ANGPTL3, DOCK7	Microsatellite (intron variant +1 more)	Familial hypobetalipoproteinemia 2	GPathogenic
Select item 1270360	NM_001367561.1(DOCK7):c.1683-11535A>G	DOCK7, ANGPTL3	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 2890775	NM_014495.4(ANGPTL3):c.496-16T>A	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 1031836	NM_001367561.1(DOCK7):c.1683-12151del	ANGPTL3, DOCK7 (Q192fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 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 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
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 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 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 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 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 1178353	NM_001367561.1(DOCK7):c.1683-14668G>A	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	not provided	GLikely 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 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 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 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 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 2893114	NM_014495.4(ANGPTL3):c.835+1G>C	ANGPTL3, DOCK7	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2167665	NM_014495.4(ANGPTL3):c.835+13T>A	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204559	NM_001367561.1(DOCK7):c.1683-15315A>C	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	not provided	GLikely 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 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 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 91867	NM_014495.4(ANGPTL3):c.883T>C (p.Phe295Leu)	ANGPTL3, DOCK7 (F295L)	Single nucleotide variant (missense variant +1 more)	Familial hypobetalipoproteinemia 2	GPathogenic
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 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 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 2877024	NM_014495.4(ANGPTL3):c.931+7G>A	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245150	NM_001367561.1(DOCK7):c.1683-16004C>T	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	not provided	GBenign
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 2525900	NM_014495.4(ANGPTL3):c.950dup (p.Glu318fs)	ANGPTL3, DOCK7 (E318fs)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 2066772	NM_014495.4(ANGPTL3):c.1122G>A (p.Pro374=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 91863	NM_014495.4(ANGPTL3):c.1198+1G>T	ANGPTL3, DOCK7	Single nucleotide variant (intron variant +1 more)	Familial hypobetalipoproteinemia 2	GPathogenic
Select item 1534509	NM_001367561.1(DOCK7):c.1682+14455T>C	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186154	NM_001367561.1(DOCK7):c.1682+14360C>T	ANGPTL3, DOCK7	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 1658470	NM_001367561.1(DOCK7):c.1682+14081A>C	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 2971185	NM_014495.4(ANGPTL3):c.1326C>T (p.Tyr442=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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