C1857277[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1646023	NM_004525.3(LRP2):c.13880C>T (p.Ser4627Leu)	LRP2 (S4627L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2433517	NM_004525.3(LRP2):c.12757G>C (p.Val4253Leu)	LRP2 (V4253L)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 2441245	NM_004525.3(LRP2):c.11868del (p.Trp3956fs)	LRP2 (W3956fs)	Deletion (frameshift variant)	Donnai-Barrow syndrome	GLikely pathogenic
Select item 1934703	NM_004525.3(LRP2):c.10169+6T>C	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
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 710928	NM_004525.3(LRP2):c.6553C>T (p.Leu2185Phe)	LRP2 (L2185F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1393429	NM_004525.3(LRP2):c.5959G>A (p.Asp1987Asn)	LRP2 (D1987N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2433520	NM_004525.3(LRP2):c.4844T>G (p.Met1615Arg)	LRP2 (M1615R)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 2433519	NM_004525.3(LRP2):c.3509G>A (p.Gly1170Asp)	LRP2 (G1170D)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 1507930	NM_004525.3(LRP2):c.3285C>T (p.Gly1095=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1436608	NM_004525.3(LRP2):c.3190A>G (p.Asn1064Asp)	LRP2 (N1064D)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GUncertain significance
Select item 1184317	NM_004525.3(LRP2):c.1978A>G (p.Thr660Ala)	LRP2 (T660A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1424949	NM_004525.3(LRP2):c.1501C>T (p.Arg501Trp)	LRP2 (R501W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance