"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 332068	NM_004525.3(LRP2):c.13803G>A (p.Met4601Ile)	LRP2 (M4601I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 518333	NM_004525.3(LRP2):c.12380G>A (p.Arg4127His)	LRP2 (R4127H)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +2 more	GBenign/Likely benign
Select item 731074	NM_004525.3(LRP2):c.12296-7T>A	LRP2	Single nucleotide variant (intron variant)	Donnai-Barrow syndrome +2 more	GBenign/Likely benign
Select item 74222	NM_004525.3(LRP2):c.10937G>A (p.Arg3646His)	LRP2 (R3646H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 332103	NM_004525.3(LRP2):c.10403C>T (p.Pro3468Leu)	LRP2 (P3468L)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GBenign/Likely benign
Select item 516156	NM_004525.3(LRP2):c.10165A>G (p.Ile3389Val)	LRP2 (I3389V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 773126	NM_004525.3(LRP2):c.9613A>G (p.Asn3205Asp)	LRP2 (N3205D)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +3 more	GBenign/Likely benign
Select item 332112	NM_004525.3(LRP2):c.9363C>T (p.Gly3121=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +1 more	GConflicting classifications of pathogenicity
Select item 332123	NM_004525.3(LRP2):c.8702A>G (p.His2901Arg)	LRP2 (H2901R)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GUncertain significance
Select item 332124	NM_004525.3(LRP2):c.8699-8C>T	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 211402	NM_004525.3(LRP2):c.8169C>T (p.Asn2723=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 710727	NM_004525.3(LRP2):c.6850A>G (p.Thr2284Ala)	LRP2 (T2284A)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GConflicting classifications of pathogenicity
Select item 332158	NM_004525.3(LRP2):c.5553C>T (p.His1851=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1061440	NM_004525.3(LRP2):c.5155G>C (p.Gly1719Arg)	LRP2 (G1719R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 259415	NM_004525.3(LRP2):c.3659C>T (p.Ala1220Val)	LRP2 (A1220V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1174694	NM_004525.3(LRP2):c.2688C>G (p.His896Gln)	LRP2 (H896Q)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 1097829	NM_004525.3(LRP2):c.2602A>T (p.Thr868Ser)	LRP2 (T868S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 290239	NM_004525.3(LRP2):c.2511C>T (p.Ala837=)	LRP2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1205879	NM_004525.3(LRP2):c.2210C>T (p.Ser737Leu)	LRP2 (S737L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 332192	NM_004525.3(LRP2):c.2079C>T (p.Phe693=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 332202	NM_004525.3(LRP2):c.428-9_428-8del	LRP2	Deletion (intron variant)	not provided +1 more	GBenign
Select item 714472	NM_004525.3(LRP2):c.391A>G (p.Arg131Gly)	LRP2 (R131G)	Single nucleotide variant (missense variant)	LRP2-related disorder +2 more	GBenign/Likely benign
Select item 332208	NM_004525.3(LRP2):c.149C>G (p.Thr50Ser)	LRP2 (T50S)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GBenign/Likely benign
Select item 129546	NM_004525.3(LRP2):c.92C>T (p.Ala31Val)	LRP2 (A31V)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +2 more	GBenign/Likely benign

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Items: 24