4018[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 more	Copy number loss	See cases	GPathogenic
Select item 148765	GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	SOD2, SOD2-OT1 +270 more	Copy number loss	See cases	GPathogenic
Select item 155551	GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3	ACAT2, AIRN +115 more	Copy number gain	See cases	GUncertain significance
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	LOC126859858, LOC126859859 +340 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	LOC129997629, LOC129997630 +323 more	Copy number loss	See cases	GPathogenic
Select item 58458	GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1	AFDN, AFDN-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 144539	GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1	AFDN, AFDN-DT +298 more	Copy number loss	See cases	GPathogenic
Select item 1879678	NM_005577.4(LPA):c.6104G>A (p.Gly2035Glu)	LPA (G2035E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2396805	NM_005577.4(LPA):c.6073C>T (p.Arg2025Cys)	LPA (R2025C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1251319	NM_005577.4(LPA):c.6046C>T (p.Arg2016Cys)	LPA (R2016C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2593152	NM_005577.4(LPA):c.5981T>C (p.Leu1994Pro)	LPA (L1994P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475517	NM_005577.4(LPA):c.5843G>A (p.Gly1948Asp)	LPA (G1948D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361798	NM_005577.4(LPA):c.5800G>A (p.Ala1934Thr)	LPA (A1934T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657110	NM_005577.4(LPA):c.5735+6C>T	LPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2215536	NM_005577.4(LPA):c.5699C>T (p.Pro1900Leu)	LPA (P1900L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119693	NM_005577.4(LPA):c.5675A>G (p.Glu1892Gly)	LPA (E1892G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 975030	NM_005577.4(LPA):c.5673A>G (p.Ile1891Met)	LPA (I1891M)	Single nucleotide variant (missense variant)	LIPOPROTEIN(a) POLYMORPHISM	GBenign
Select item 2544302	NM_005577.4(LPA):c.5638C>G (p.Gln1880Glu)	LPA (Q1880E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273447	NM_005577.4(LPA):c.5595G>C (p.Lys1865Asn)	LPA (K1865N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277718	NM_005577.4(LPA):c.5581C>T (p.His1861Tyr)	LPA (H1861Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657111	NM_005577.4(LPA):c.5548T>C (p.Leu1850=)	LPA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3119692	NM_005577.4(LPA):c.5522T>C (p.Phe1841Ser)	LPA (F1841S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2673088	NM_005577.4(LPA):c.5465G>A (p.Gly1822Glu)	LPA (G1822E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2610405	NM_005577.4(LPA):c.5450C>T (p.Pro1817Leu)	LPA (P1817L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388609	NM_005577.4(LPA):c.5438C>T (p.Pro1813Leu)	LPA (P1813L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496032	NM_005577.4(LPA):c.5380T>C (p.Cys1794Arg)	LPA (C1794R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325983	NM_005577.4(LPA):c.5333A>G (p.Asn1778Ser)	LPA (N1778S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346313	NM_005577.4(LPA):c.5329A>G (p.Ile1777Val)	LPA (I1777V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2256506	NM_005577.4(LPA):c.5317C>G (p.Pro1773Ala)	LPA (P1773A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2673089	NM_005577.4(LPA):c.5311C>T (p.Arg1771Cys)	LPA (R1771C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2466244	NM_005577.4(LPA):c.5302A>T (p.Asn1768Tyr)	LPA (N1768Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407824	NM_005577.4(LPA):c.5284T>C (p.Trp1762Arg)	LPA (W1762R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3291128	NM_005577.4(LPA):c.5216C>T (p.Thr1739Met)	LPA (T1739M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303346	NM_005577.4(LPA):c.5212G>A (p.Gly1738Arg)	LPA (G1738R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401930	NM_005577.4(LPA):c.5207T>C (p.Val1736Ala)	LPA (V1736A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119691	NM_005577.4(LPA):c.5158T>A (p.Cys1720Ser)	LPA (C1720S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 979150	NM_005577.4(LPA):c.5157C>T (p.Asp1719=)	LPA	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GBenign/Likely benign
Select item 2328115	NM_005577.4(LPA):c.5126T>A (p.Val1709Asp)	LPA (V1709D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 988870	NM_005577.4(LPA):c.5081C>G (p.Ser1694Ter)	LPA (S1694*)	Single nucleotide variant (nonsense)	Abnormal bleeding +1 more	GUncertain significance
Select item 1241754	NM_005577.4(LPA):c.5036T>C (p.Met1679Thr)	LPA (M1679T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3291137	NM_005577.4(LPA):c.5024G>C (p.Trp1675Ser)	LPA (W1675S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119690	NM_005577.4(LPA):c.5011G>T (p.Asp1671Tyr)	LPA (D1671Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348714	NM_005577.4(LPA):c.4993T>G (p.Cys1665Gly)	LPA (C1665G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 975028	NM_005577.4(LPA):c.4974-2A>G	LPA	Single nucleotide variant (splice acceptor variant)	not provided	GBenign
Select item 2381172	NM_005577.4(LPA):c.4907C>T (p.Thr1636Ile)	LPA (T1636I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454621	NM_005577.4(LPA):c.4874G>A (p.Arg1625Gln)	LPA (R1625Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307145	NM_005577.4(LPA):c.4847G>A (p.Cys1616Tyr)	LPA (C1616Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291131	NM_005577.4(LPA):c.4756G>A (p.Val1586Ile)	LPA (V1586I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270665	NM_005577.4(LPA):c.4733A>G (p.Gln1578Arg)	LPA (Q1578R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347078	NM_005577.4(LPA):c.4718A>G (p.Tyr1573Cys)	LPA (Y1573C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291133	NM_005577.4(LPA):c.4706T>G (p.Val1569Gly)	LPA (V1569G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119689	NM_005577.4(LPA):c.4678C>A (p.Pro1560Thr)	LPA (P1560T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119688	NM_005577.4(LPA):c.4660C>A (p.Pro1554Thr)	LPA (P1554T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283349	NM_005577.4(LPA):c.4654A>G (p.Arg1552Gly)	LPA (R1552G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2591943	NM_005577.4(LPA):c.4652G>A (p.Cys1551Tyr)	LPA (C1551Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119687	NM_005577.4(LPA):c.4651T>G (p.Cys1551Gly)	LPA (C1551G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286882	NM_005577.4(LPA):c.4532G>C (p.Arg1511Pro)	LPA (R1511P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599113	NM_005577.4(LPA):c.4520G>A (p.Gly1507Glu)	LPA (G1507E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041243	NM_005577.4(LPA):c.4487G>T (p.Ser1496Ile)	LPA (S1496I)	Single nucleotide variant (missense variant)	LPA-related disorder	GLikely benign
Select item 3046106	NM_005577.4(LPA):c.4471+8A>G	LPA	Single nucleotide variant (intron variant)	LPA-related disorder	GLikely benign
Select item 3119686	NM_005577.4(LPA):c.4456G>A (p.Ala1486Thr)	LPA (A1486T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510414	NM_005577.4(LPA):c.4449C>A (p.Ser1483Arg)	LPA (S1483R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561039	NM_005577.4(LPA):c.4403C>T (p.Thr1468Ile)	LPA (T1468I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244681	NM_005577.4(LPA):c.4371G>C (p.Trp1457Cys)	LPA (W1457C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341762	NM_005577.4(LPA):c.4334G>A (p.Arg1445His)	LPA (R1445H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291130	NM_005577.4(LPA):c.4333C>T (p.Arg1445Cys)	LPA (R1445C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119684	NM_005577.4(LPA):c.4313G>A (p.Arg1438Lys)	LPA (R1438K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471019	NM_005577.4(LPA):c.4309T>G (p.Cys1437Gly)	LPA (C1437G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119683	NM_005577.4(LPA):c.4295T>C (p.Leu1432Pro)	LPA (L1432P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403043	NM_005577.4(LPA):c.4289+1G>A	LPA	Single nucleotide variant (splice donor variant)	not specified	GBenign
Select item 2388072	NM_005577.4(LPA):c.4261C>T (p.Arg1421Trp)	LPA (R1421W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468893	NM_005577.4(LPA):c.4253A>T (p.His1418Leu)	LPA (H1418L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291129	NM_005577.4(LPA):c.4247C>T (p.Thr1416Ile)	LPA (T1416I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119682	NM_005577.4(LPA):c.4240T>C (p.Ser1414Pro)	LPA (S1414P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277084	NM_005577.4(LPA):c.4235G>T (p.Trp1412Leu)	LPA (W1412L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119681	NM_005577.4(LPA):c.4234T>C (p.Trp1412Arg)	LPA (W1412R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119680	NM_005577.4(LPA):c.4210A>G (p.Ile1404Val)	LPA (I1404V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119679	NM_005577.4(LPA):c.4107C>A (p.Ser1369Arg)	LPA (S1369R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310976	NM_005577.4(LPA):c.4081A>G (p.Thr1361Ala)	LPA (T1361A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119678	NM_005577.4(LPA):c.4026A>T (p.Arg1342Ser)	LPA (R1342S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119677	NM_005577.4(LPA):c.3992G>A (p.Arg1331His)	LPA (R1331H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657112	NM_005577.4(LPA):c.3991C>A (p.Arg1331Ser)	LPA (R1331S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2268855	NM_005577.4(LPA):c.3982G>A (p.Ala1328Thr)	LPA (A1328T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291141	NM_005577.4(LPA):c.3952C>A (p.Leu1318Met)	LPA (L1318M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 225938	NM_005577.4(LPA):c.3947+467T>C	LPA	Single nucleotide variant (intron variant)	LIPOPROTEIN(a) POLYMORPHISM	GBenign
Select item 3291132	NM_005577.4(LPA):c.3940C>T (p.Pro1314Ser)	LPA (P1314S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513952	NM_005577.4(LPA):c.3893G>C (p.Trp1298Ser)	LPA (W1298S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277378	NM_005577.4(LPA):c.3850G>A (p.Gly1284Ser)	LPA (G1284S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210990	NM_005577.4(LPA):c.3836G>C (p.Gly1279Ala)	LPA (G1279A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119675	NM_005577.4(LPA):c.3794C>T (p.Thr1265Met)	LPA (T1265M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2340672	NM_005577.4(LPA):c.3701A>G (p.Asn1234Ser)	LPA (N1234S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2606822	NM_005577.4(LPA):c.3689C>T (p.Thr1230Ile)	LPA (T1230I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372582	NM_005577.4(LPA):c.3682T>A (p.Cys1228Ser)	LPA (C1228S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619299	NM_005577.4(LPA):c.3674G>A (p.Ser1225Asn)	LPA (S1225N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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