All variants in the LRP4 gene

Information The variants shown are described using the NM_002334.3 transcript reference sequence.

118 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 1i c.(52_53ins?) r.0 p.0 - pathogenic g.? - - - LRP4_000000 retroviral insertion; few percent normal mRNA PubMed: Simon-Chazottes 2006 - - animal model - - - - - Johan den Dunnen
?/. - c.85C>T r.(?) p.(Arg29Trp) - VUS g.46924448G>A - LRP4(NM_002334.3):c.85C>T (p.(Arg29Trp)) - LRP4_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 5 c.147+1G>A r.spl? p.? - pathogenic g.46924385C>T - - - LRP4_000001 homozygosity mapping; not in 500 control chromosomes Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Li 2010 - - Germline - - - - - Johan den Dunnen
+/. 2i c.200-9G>A r.199_200ins200-7_200-1 p.Ile67ArgfsX11 - pathogenic g.46921938C>T g.46900387C>T - - LRP4_000009 - PubMed: Li 2010 - - Germline - - - - - Johan den Dunnen
?/. - c.260C>T r.(?) p.(Ser87Phe) - VUS g.46921869G>A - LRP4(NM_002334.3):c.260C>T (p.(Ser87Phe)) - LRP4_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.378G>A r.(?) p.(Leu126=) - likely benign g.46921466C>T - LRP4(NM_002334.3):c.378G>A (p.L126=) - LRP4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.390T>C r.(?) p.(Asp130=) - likely benign g.46921454A>G - LRP4(NM_002334.3):c.390T>C (p.D130=) - LRP4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 4 c.409G>A r.(?) p.(Asp137Asn) - pathogenic g.46921435C>T g.46899884C>T - - LRP4_000003 homozygosity mapping; not in 500 control chromosomes PubMed: Li 2010 - - Germline - - - - - Johan den Dunnen
-?/. - c.431-8C>T r.(=) p.(=) - likely benign g.46921062G>A - LRP4(NM_002334.3):c.431-8C>T (p.(=)) - LRP4_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 5 c.479G>A r.(?) p.(Cys160Tyr) - pathogenic g.46921006C>T g.46899455C>T - - LRP4_000002 homozygosity mapping; not in 500 control chromosomes PubMed: Li 2010 - - Germline - - - - - Johan den Dunnen
?/. - c.481A>T r.(?) p.(Ile161Phe) - VUS g.46921004T>A - LRP4(NM_002334.3):c.481A>T (p.(Ile161Phe)) - LRP4_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.590A>C r.(?) p.(Gln197Pro) - VUS g.46920541T>G - LRP4(NM_002334.3):c.590A>C (p.(Gln197Pro)) - LRP4_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.640G>A r.(?) p.(Asp214Asn) - likely benign g.46920491C>T - LRP4(NM_002334.3):c.640G>A (p.(Asp214Asn)) - LRP4_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.676+13G>A r.(=) p.(=) - likely benign g.46920442C>T - LRP4(NM_002334.3):c.676+13G>A - LRP4_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.797-3C>T r.spl? p.? - VUS g.46918548G>A - LRP4(NM_002334.4):c.797-3C>T - LRP4_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.820C>G r.(?) p.(Gln274Glu) - VUS g.46918522G>C - LRP4(NM_002334.3):c.820C>G (p.(Gln274Glu)) - LRP4_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.851G>A r.(?) p.(Arg284His) - likely benign g.46918491C>T - LRP4(NM_002334.3):c.851G>A (p.(Arg284His)) - LRP4_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.922+8C>T r.(=) p.(=) - likely benign g.46918412G>A - LRP4(NM_002334.4):c.922+8C>T - LRP4_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.941T>C r.(?) p.(Leu314Ser) - likely benign g.46917868A>G g.46896317A>G LRP4(NM_002334.3):c.941T>C (p.(Leu314Ser)) - LRP4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.997G>A r.(?) p.(Gly333Arg) - likely benign g.46917812C>T - LRP4(NM_002334.3):c.997G>A (p.(Gly333Arg)) - LRP4_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1048+7G>T r.(=) p.(=) - likely benign g.46917754C>A - LRP4(NM_002334.3):c.1048+7G>T (p.(=)) - LRP4_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1048+7G>T r.(=) p.(=) - likely benign g.46917754C>A - LRP4(NM_002334.3):c.1048+7G>T (p.(=)) - LRP4_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1054C>G r.(?) p.(Arg352Gly) - VUS g.46917564G>C - LRP4(NM_002334.4):c.1054C>G (p.(Arg352Gly)) - LRP4_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1117C>T r.(?) p.(Arg373Trp) - likely benign g.46917501G>A g.46895950G>A LRP4(NM_002334.4):c.1117C>T (p.(Arg373Trp), p.R373W) - LRP4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1117C>T r.(?) p.(Arg373Trp) - likely benign g.46917501G>A g.46895950G>A - - LRP4_000037 99 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs118009068 Germline - 99/2795 individuals - - - Mohammed Faruq
-?/. - c.1117C>T r.(?) p.(Arg373Trp) - likely benign g.46917501G>A g.46895950G>A - - LRP4_000037 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs118009068 Germline - 1/2795 individuals - - - Mohammed Faruq
-?/. - c.1117C>T r.(?) p.(Arg373Trp) - likely benign g.46917501G>A - LRP4(NM_002334.4):c.1117C>T (p.(Arg373Trp), p.R373W) - LRP4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 12 c.1345G>A r.(?) p.(Asp449Asn) - pathogenic g.46916335C>T g.46894784C>T - - LRP4_000006 homozygosity mapping; not in 500 control chromosomes PubMed: Li 2010 - - Germline - - - - - Johan den Dunnen
-/. - c.1365A>G r.(?) p.(Pro455=) - benign g.46916315T>C g.46894764T>C LRP4(NM_002334.3):c.1365A>G (p.P455=) - LRP4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1377G>A r.(?) p.(Glu459=) - likely benign g.46916303C>T - LRP4(NM_002334.3):c.1377G>A (p.E459=) - LRP4_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 11 c.(1381A>C) r.(?) p.(Thr461Pro) - pathogenic g.46916299T>G g.46894748T>G 1382A>C - LRP4_000007 error in description (Fig. OK) PubMed: Li 2010 - - Germline - - - - - Johan den Dunnen
+/. 12 c.1417C>T r.(?) p.(Leu473Phe) - pathogenic g.46916263G>A g.46894712G>A - - LRP4_000004 homozygosity mapping; not in 500 control chromosomes PubMed: Li 2010 - - Germline - - - - - Johan den Dunnen
-?/. - c.1501A>C r.(?) p.(Asn501His) - likely benign g.46916179T>G g.46894628T>G LRP4(NM_002334.3):c.1501A>C (p.N501H), LRP4(NM_002334.4):c.1501A>C (p.(Asn501His)) - LRP4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1501A>C r.(?) p.(Asn501His) - likely benign g.46916179T>G g.46894628T>G LRP4(NM_002334.3):c.1501A>C (p.N501H), LRP4(NM_002334.4):c.1501A>C (p.(Asn501His)) - LRP4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1501A>C r.(?) p.(Asn501His) - likely benign g.46916179T>G g.46894628T>G - - LRP4_000028 67 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs72897663 Germline - 67/2795 individuals - - - Mohammed Faruq
+/. 13 c.1585G>A r.(?) p.(Asp529Asn) - pathogenic g.46914636C>T g.46893085C>T - - LRP4_000005 homozygosity mapping; not in 500 control chromosomes; shared haplotype PubMed: Li 2010 - - Germline - - - - - Johan den Dunnen
+/. 13 c.1585G>A r.(?) p.(Asp529Asn) - pathogenic g.46914636C>T g.46893085C>T - - LRP4_000005 shared haplotype PubMed: Li 2010 - - Germline - - - - - Johan den Dunnen
+/. 13 c.1585G>A r.(?) p.(Asp529Asn) - pathogenic g.46914636C>T g.46893085C>T - - LRP4_000005 shared haplotype PubMed: Li 2010 - - Germline - - - - - Johan den Dunnen
+/. 13 c.1585G>A r.(?) p.(Asp529Asn) - pathogenic g.46914636C>T g.46893085C>T - - LRP4_000005 - PubMed: Li 2010 - - Germline - - - - - Johan den Dunnen
-/. - c.1623T>C r.(?) p.(Asp541=) - benign g.46914598A>G g.46893047A>G LRP4(NM_002334.4):c.1623T>C (p.D541=) - LRP4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1623T>C r.(?) p.(Asp541=) - benign g.46914598A>G g.46893047A>G LRP4(NM_002334.4):c.1623T>C (p.D541=) - LRP4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1638A>G r.(?) p.(Lys546=) - benign g.46914583T>C g.46893032T>C LRP4(NM_002334.4):c.1638A>G (p.K546=) - LRP4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1638A>G r.(?) p.(Lys546=) - benign g.46914583T>C g.46893032T>C LRP4(NM_002334.4):c.1638A>G (p.K546=) - LRP4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1695G>A r.(?) p.(Glu565=) - likely benign g.46914526C>T g.46892975C>T LRP4(NM_002334.3):c.1695G>A (p.(=)) - LRP4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1733G>A r.(?) p.(Arg578His) - VUS g.46912010C>T g.46890459C>T LRP4(NM_002334.3):c.1733G>A (p.(Arg578His)) - LRP4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1787A>G r.(?) p.(His596Arg) - likely benign g.46911956T>C g.46890405T>C LRP4(NM_002334.3):c.1787A>G (p.(His596Arg), p.H596R) - LRP4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1787A>G r.(?) p.(His596Arg) - likely benign g.46911956T>C - LRP4(NM_002334.3):c.1787A>G (p.(His596Arg), p.H596R) - LRP4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 14 c.1816G>A r.(?) p.(Asp606Asn) - likely pathogenic g.46911927C>T g.46890376C>T - - LRP4_000016 - - - - Germline yes - - - - Karen Stals
+?/. 14 c.1886G>A r.(?) p.(Gly629Glu) - likely pathogenic g.46911857C>T g.46890306C>T - - LRP4_000017 - - - - Germline yes - - - - Karen Stals
+/. 15i c.(2092+3A>T) r.[1916_2092del, =] p.[Leu640_Gly698del, =] - pathogenic g.46911492T>A g.46889941T>A - - LRP4_000000 few percent normal mRNA PubMed: Simon-Chazottes 2006 - - Germline - - - - - Johan den Dunnen
?/. - c.2213A>C r.(?) p.(Gln738Pro) - VUS g.46910964T>G - LRP4(NM_002334.4):c.2213A>C (p.(Gln738Pro)) - LRP4_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2257C>T r.(?) p.(Arg753Cys) - VUS g.46908043G>A - LRP4(NM_002334.3):c.2257C>T (p.(Arg753Cys)) - LRP4_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2318G>A r.(?) p.(Arg773His) - VUS g.46907982C>T g.46886431C>T LRP4(NM_002334.3):c.2318G>A (p.R773H) - LRP4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2515C>T r.(?) p.(Arg839Trp) - VUS g.46905519G>A - LRP4(NM_002334.3):c.2515C>T (p.(Arg839Trp)) - LRP4_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 19 c.2552C>G r.(?) p.(Thr851Arg) - pathogenic g.46905482G>C g.46883931G>C - - LRP4_000018 - - - - Germline yes - - - - Patrizia De Marco
?/. - c.2570A>C r.(?) p.(Asn857Thr) - VUS g.46905464T>G - LRP4(NM_002334.3):c.2570A>C (p.(Asn857Thr)) - LRP4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2610C>T r.(?) p.(=) - VUS g.46905424G>A - LRP4(NM_002334.4):c.2610C>T (p.(Gly870=)) - LRP4_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2651T>G r.(?) p.(Ile884Ser) - VUS g.46903416A>C - LRP4(NM_002334.4):c.2651T>G (p.(Ile884Ser)) - LRP4_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2868G>A r.(?) p.(Glu956=) - likely benign g.46900813C>T g.46879262C>T LRP4(NM_002334.3):c.2868G>A (p.E956=) - LRP4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2944_2945del r.(?) p.(Leu982Alafs*32) - VUS g.46900738_46900739del - LRP4(NM_002334.3):c.2944_2945delCT (p.(Leu982fs)) - LRP4_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2993G>A r.(?) p.(Arg998His) - likely benign g.46900688C>T - LRP4(NM_002334.3):c.2993G>A (p.(Arg998His)) - LRP4_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 22 c.3049T>C r.(?) p.(Cys1017Arg) - pathogenic g.46900545A>G g.46878994A>G - - LRP4_000008 - PubMed: Li 2010 - - Germline - - - - - Johan den Dunnen
-?/. - c.3064A>G r.(?) p.(Asn1022Asp) - likely benign g.46900530T>C - LRP4(NM_002334.3):c.3064A>G (p.(Asn1022Asp), p.N1022D), LRP4(NM_002334.4):c.3064A>G (p.N1022D) - LRP4_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3064A>G r.(?) p.(Asn1022Asp) - likely benign g.46900530T>C - LRP4(NM_002334.3):c.3064A>G (p.(Asn1022Asp), p.N1022D), LRP4(NM_002334.4):c.3064A>G (p.N1022D) - LRP4_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.3064A>G r.(?) p.(Asn1022Asp) - likely benign g.46900530T>C - LRP4(NM_002334.3):c.3064A>G (p.(Asn1022Asp), p.N1022D), LRP4(NM_002334.4):c.3064A>G (p.N1022D) - LRP4_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.3073G>C r.(?) p.(Gly1025Arg) - VUS g.46900521C>G - LRP4(NM_002334.4):c.3073G>C (p.(Gly1025Arg)) - LRP4_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3125C>G r.(?) p.(Thr1042Ser) - VUS g.46900469G>C - LRP4(NM_002334.3):c.3125C>G (p.(Thr1042Ser)) - LRP4_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.3256A>G r.(?) p.(Ile1086Val) - benign g.46898771T>C g.46877220T>C LRP4(NM_002334.4):c.3256A>G (p.I1086V) - LRP4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.3256A>G r.(?) p.(Ile1086Val) - benign g.46898771T>C g.46877220T>C LRP4(NM_002334.4):c.3256A>G (p.I1086V) - LRP4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3277+5G>T r.spl? p.? - likely benign g.46898745C>A - LRP4(NM_002334.4):c.3277+5G>T - LRP4_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3298A>T r.(?) p.(Ser1100Cys) - VUS g.46898361T>A g.46876810T>A LRP4(NM_002334.3):c.3298A>T (p.(Ser1100Cys)) - LRP4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.3340C>T r.(?) p.(Gln1114Ter) - likely pathogenic g.46898319G>A g.46876768G>A LRP4(NM_002334.3):c.3340C>T (p.Q1114*) - LRP4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.3428C>T r.(?) p.(Thr1143Met) - VUS g.46898125G>A - LRP4(NM_002334.4):c.3428C>T (p.(Thr1143Met)) - LRP4_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3517G>A r.(?) p.(Val1173Ile) - likely benign g.46898036C>T g.46876485C>T LRP4(NM_002334.3):c.3517G>A (p.(Val1173Ile)) - LRP4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3537-8del r.(=) p.(=) - VUS g.46897525del - LRP4(NM_002334.4):c.3537-8del - LRP4_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3599C>T r.(?) p.(Ser1200Leu) - VUS g.46897455G>A g.46875904G>A LRP4(NM_002334.3):c.3599C>T (p.S1200L) - LRP4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3620A>G r.(?) p.(Asn1207Ser) - likely benign g.46897434T>C g.46875883T>C LRP4(NM_002334.3):c.3620A>G (p.N1207S, p.(Asn1207Ser)) - LRP4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3620A>G r.(?) p.(Asn1207Ser) - likely benign g.46897434T>C g.46875883T>C LRP4(NM_002334.3):c.3620A>G (p.N1207S, p.(Asn1207Ser)) - LRP4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3620A>G r.(?) p.(Asn1207Ser) - likely benign g.46897434T>C - LRP4(NM_002334.3):c.3620A>G (p.N1207S, p.(Asn1207Ser)) - LRP4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3624C>G r.(?) p.(Asn1208Lys) - VUS g.46897430G>C - LRP4(NM_002334.4):c.3624C>G (p.(Asn1208Lys)) - LRP4_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.3698A>C r.(?) p.(Glu1233Ala) - VUS g.46897356T>G g.46875805T>G - - LRP4_000061 - PubMed: Al-Kasbi 2022 VCV001180722.1 - Germline - - - - - Johan den Dunnen
?/. - c.3752C>T r.(?) p.(Pro1251Leu) - VUS g.46897180G>A - LRP4(NM_002334.3):c.3752C>T (p.(Pro1251Leu)), LRP4(NM_002334.4):c.3752C>T (p.P1251L) - LRP4_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3752C>T r.(?) p.(Pro1251Leu) - VUS g.46897180G>A - LRP4(NM_002334.3):c.3752C>T (p.(Pro1251Leu)), LRP4(NM_002334.4):c.3752C>T (p.P1251L) - LRP4_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.3812A>C r.(?) p.Gln1271Pro ACMG VUS g.46897120T>G g.46875569T>G - - LRP4_000031 not regarded causative for phenotype in patient, co-occurrence with pathogenic variant in KIF21A - - - Germline - - - - - Andreas Laner
-?/. - c.3817C>A r.(?) p.(Arg1273=) - likely benign g.46897115G>T - LRP4(NM_002334.3):c.3817C>A (p.R1273=) - LRP4_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.3828C>G r.(?) p.(His1276Gln) - VUS g.46897104G>C - LRP4(NM_002334.4):c.3828C>G (p.H1276Q) - LRP4_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.3844A>C r.(?) p.(Thr1282Pro) - VUS g.46897088T>G - LRP4(NM_002334.3):c.3844A>C (p.(Thr1282Pro)) - LRP4_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.4082G>A r.(?) p.(Arg1361His) - VUS g.46896498C>T - LRP4(NM_002334.3):c.4082G>A (p.(Arg1361His)) - LRP4_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 28 c.4207G>C r.(?) p.(Asp1403His) - likely pathogenic g.46896373C>G g.46874822C>G - - LRP4_000011 - - - - Germline - - - - - Rivka Sukenik Halevy
?/. - c.4229+6A>G r.(=) p.(=) - VUS g.46896345T>C - LRP4(NM_002334.4):c.4229+6A>G - LRP4_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.4274G>A r.(?) p.(Arg1425Gln) - VUS g.46895100C>T - LRP4(NM_002334.3):c.4274G>A (p.(Arg1425Gln)) - LRP4_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.4361C>T r.(?) p.(Ala1454Val) - likely benign g.46895013G>A - LRP4(NM_002334.3):c.4361C>T (p.(Ala1454Val)) - LRP4_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.4385G>T r.(?) p.(Arg1462Leu) - VUS g.46894989C>A - LRP4(NM_002334.4):c.4385G>T (p.(Arg1462Leu)) - LRP4_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.4613G>A r.(?) p.(Arg1538Gln) - likely benign g.46893155C>T - LRP4(NM_002334.3):c.4613G>A (p.R1538Q) - LRP4_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 31 c.4690C>A r.(?) p.(Gln1564Lys) - likely pathogenic g.46893078G>T g.46871527G>T - - LRP4_000030 - - - - Germline - - - - - Rivka Sukenik Halevy
?/. - c.4767C>G r.(?) p.(Asn1589Lys) - VUS g.46890609G>C - LRP4(NM_002334.4):c.4767C>G (p.(Asn1589Lys)) - LRP4_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 33 c.(4863_4864delinsAT) r.4863_4864delinsau p.1621Asn_Gly1622delinsLysCys - pathogenic g.46890238_46890239delinsAT g.46868687_46868688delinsAT - - LRP4_000000 - PubMed: Duchesne 2006 - - Germline - - - - - Johan den Dunnen
?/. - c.4936C>T r.(?) p.(Arg1646Trp) - VUS g.46890166G>A - LRP4(NM_002334.3):c.4936C>T (p.(Arg1646Trp)) - LRP4_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.4937G>A r.(?) p.(Arg1646Gln) - benign g.46890165C>T g.46868614C>T LRP4(NM_002334.4):c.4937G>A (p.R1646Q), LRP4-AS1(NR_038909.1):n.198-4460C>T - LRP4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 34 c.4959C>G r.4952_5087del p.Val1651AspfsX41 - pathogenic g.46889658G>C g.46868107G>C 4959G>C (r.4952_4987del) - LRP4_000010 error in description (Fig. OK) PubMed: Li 2010 - - Germline - - - - - Johan den Dunnen
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