"Baylor Genetics"[submitter] AND "LRP2"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 561055	NM_004525.3(LRP2):c.12590G>C (p.Gly4197Ala)	LRP2 (G4197A)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 1438087	NM_004525.3(LRP2):c.11207G>A (p.Arg3736His)	LRP2 (R3736H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 129492	NM_004525.3(LRP2):c.11092G>A (p.Val3698Met)	LRP2 (V3698M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1032221	NM_004525.3(LRP2):c.8872G>T (p.Asp2958Tyr)	LRP2 (D2958Y)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GUncertain significance
Select item 1029857	NM_004525.3(LRP2):c.8494T>A (p.Ser2832Thr)	LRP2 (S2832T)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 129541	NM_004525.3(LRP2):c.8132G>A (p.Arg2711His)	LRP2 (R2711H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 975596	NM_004525.3(LRP2):c.7307C>T (p.Thr2436Ile)	LRP2 (T2436I)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GUncertain significance
Select item 893512	NM_004525.3(LRP2):c.6938C>T (p.Pro2313Leu)	LRP2 (P2313L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1444422	NM_004525.3(LRP2):c.6233T>G (p.Leu2078Trp)	LRP2 (L2078W)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +2 more	GUncertain significance
Select item 1032219	NM_004525.3(LRP2):c.5684G>T (p.Gly1895Val)	LRP2 (G1895V)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 1032218	NM_004525.3(LRP2):c.2321-3T>C	LRP2	Single nucleotide variant (intron variant)	Donnai-Barrow syndrome +1 more	GUncertain significance
Select item 1032217	NM_004525.3(LRP2):c.1558A>G (p.Thr520Ala)	LRP2 (T520A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029856	NM_004525.3(LRP2):c.428-4A>G	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity