4023[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC129999940, LOC129999941 +687 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	LOC129999950, LOC129999951 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	XKR5, XKR6 +773 more	Copy number loss	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC126860319, LOC126860320 +696 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +665 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	TNFRSF10A, TNFRSF10A-DT +705 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +870 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC128772328, LOC129389957 +653 more	Copy number gain	See cases	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788272, LOC113788273 +807 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC130000012, LOC130000013 +857 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 more	Copy number gain	See cases	GPathogenic
Select item 145968	GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3	ASAH1, ASAH1-AS1 +144 more	Copy number gain	See cases	GPathogenic
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	ADAM28, ADAM7 +523 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59768	GRCh38/hg38 8p23.1-21.3(chr8:12787272-20952389)x3	ASAH1, ASAH1-AS1 +140 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 145600	GRCh38/hg38 8p21.3(chr8:19864924-20015601)x1	LOC129389962, LPL	Copy number loss	See cases	GLikely benign
Select item 362397	NM_000237.2(LPL):c.-299T>G	LPL	Single nucleotide variant	Hyperlipoproteinemia, type I	GUncertain significance
Select item 362398	NM_000237.3(LPL):c.-283G>T	LPL	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 362399	NC_000008.11:g.19939160T>G	LPL	Single nucleotide variant	Hyperlipoproteinemia, type I +1 more	GBenign
Select item 763853	NC_000008.11:g.19939200G>C	LPL	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1549	NM_000237.3(LPL):c.-227T>C	LPL	Single nucleotide variant	not specified	GUncertain significance
Select item 362400	NM_000237.3(LPL):c.-172_-171dup	LPL	Duplication (5 prime UTR variant)	Hyperlipoproteinemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 362401	NM_000237.3(LPL):c.-136T>C	LPL	Single nucleotide variant (5 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 911585	NM_000237.3(LPL):c.-101C>T	LPL	Single nucleotide variant (5 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 362402	NM_000237.3(LPL):c.-71C>G	LPL	Single nucleotide variant (5 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 362403	NM_000237.3(LPL):c.-49C>T	LPL	Single nucleotide variant (5 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 362404	NM_000237.3(LPL):c.-38C>G	LPL	Single nucleotide variant (5 prime UTR variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 1712082	NM_000237.3(LPL):c.-3G>T	LPL	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2006935	NM_000237.3(LPL):c.3G>A (p.Met1Ile)	LPL (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1941573	NM_000237.3(LPL):c.6G>A (p.Glu2=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1704488	NM_000237.3(LPL):c.8G>A (p.Ser3Asn)	LPL (S3N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1455947	NM_000237.3(LPL):c.10_19del (p.Lys4fs)	LPL (K4fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1149017	NM_000237.3(LPL):c.9C>T (p.Ser3=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1118542	NM_000237.3(LPL):c.15C>G (p.Ala5=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1095681	NM_000237.3(LPL):c.15C>A (p.Ala5=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 763630	NM_000237.3(LPL):c.15C>T (p.Ala5=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830448	NM_000237.3(LPL):c.18G>T (p.Leu6=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1787583	NM_000237.3(LPL):c.21C>A (p.Leu7=)	LPL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1728789	NM_000237.3(LPL):c.31C>T (p.Leu11=)	LPL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1731042	NM_000237.3(LPL):c.33G>A (p.Leu11=)	LPL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1560072	NM_000237.3(LPL):c.33G>T (p.Leu11=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2153588	NM_000237.3(LPL):c.35C>T (p.Ala12Val)	LPL (A12V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 908632	NM_000237.3(LPL):c.36C>A (p.Ala12=)	LPL	Single nucleotide variant (synonymous variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 1735058	NM_000237.3(LPL):c.37G>T (p.Val13Leu)	LPL (V13L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 643218	NM_000237.3(LPL):c.41G>A (p.Trp14Ter)	LPL (W14*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2499311	NM_000237.3(LPL):c.43C>A (p.Leu15Ile)	LPL (L15I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754564	NM_000237.3(LPL):c.45C>T (p.Leu15=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1646511	NM_000237.3(LPL):c.45C>G (p.Leu15=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1431010	NM_000237.3(LPL):c.46_47del (p.Gln16fs)	LPL (Q16fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2040146	NM_000237.3(LPL):c.52C>T (p.Leu18=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1749148	NM_000237.3(LPL):c.56C>A (p.Thr19Asn)	LPL (T19N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2919886	NM_000237.3(LPL):c.57C>T (p.Thr19=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1999761	NM_000237.3(LPL):c.57C>G (p.Thr19=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 796201	NM_000237.3(LPL):c.57C>A (p.Thr19=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1749778	NM_000237.3(LPL):c.58_71delinsCCTC (p.Ala20fs)	LPL (A20fs)	Indel (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 753489	NM_000237.3(LPL):c.59C>T (p.Ala20Val)	LPL (A20V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1085341	NM_000237.3(LPL):c.60C>T (p.Ala20=)	LPL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1654202	NM_000237.3(LPL):c.63C>T (p.Ser21=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3291187	NM_000237.3(LPL):c.64C>A (p.Arg22Ser)	LPL (R22S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2454157	NM_000237.3(LPL):c.68G>A (p.Gly23Glu)	LPL (G23E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2089784	NM_000237.3(LPL):c.69A>G (p.Gly23=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1143682	NM_000237.3(LPL):c.72G>C (p.Gly24=)	LPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1761581	NM_000237.3(LPL):c.79G>T (p.Ala27Ser)	LPL (A27S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 908633	NM_000237.3(LPL):c.81C>A (p.Ala27=)	LPL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 991263	NM_000237.3(LPL):c.84C>G (p.Ala28=)	LPL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2823414	NM_000237.3(LPL):c.88+1del	LPL	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2735123	NM_000237.3(LPL):c.88+2dup	LPL	Duplication (splice donor variant)	not provided	GPathogenic
Select item 1685928	NM_000237.3(LPL):c.88+1G>T	LPL	Single nucleotide variant (splice donor variant)	Hyperlipidemia, familial combined, LPL related	GPathogenic
Select item 1542	NM_000237.3(LPL):c.88+1G>C	LPL	Single nucleotide variant (splice donor variant)	Hyperlipoproteinemia, type I	GPathogenic
Select item 2572510	NM_000237.3(LPL):c.88+3A>C	LPL	Single nucleotide variant (intron variant)	Hyperlipoproteinemia, type I	GUncertain significance
Select item 1639811	NM_000237.3(LPL):c.88+9T>C	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1131983	NM_000237.3(LPL):c.88+10G>A	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838150	NM_000237.3(LPL):c.88+12G>A	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign

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