"Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine"[submitter - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 225147	NM_002336.3(LRP6):c.4593del (p.Cys1532fs)	LRP6 (C1532fs)	Deletion (frameshift variant)	Orofacial cleft +1 more	GPathogenic
Select item 225160	NM_002336.3(LRP6):c.4298C>T (p.Ser1433Leu)	LRP6 (S1433L)	Single nucleotide variant (missense variant)	Orofacial cleft +1 more	GUncertain significance
Select item 225159	NM_002336.3(LRP6):c.4136G>A (p.Gly1379Asp)	LRP6 (G1379D)	Single nucleotide variant (missense variant)	Orofacial cleft +1 more	GUncertain significance
Select item 225153	NM_002336.3(LRP6):c.4082-2A>G	LRP6	Single nucleotide variant (splice acceptor variant)	Tooth agenesis	GLikely pathogenic
Select item 225148	NM_002336.3(LRP6):c.3398-2A>C	LRP6	Single nucleotide variant (splice acceptor variant)	Tooth agenesis	GPathogenic
Select item 225158	NM_002336.3(LRP6):c.3365A>C (p.Asp1122Ala)	LRP6 (D1122A)	Single nucleotide variant (missense variant)	Orofacial cleft	GUncertain significance
Select item 225157	NM_002336.3(LRP6):c.2995G>C (p.Gly999Arg)	LRP6 (G999R)	Single nucleotide variant (missense variant)	Orofacial cleft	GUncertain significance
Select item 225152	NM_002336.3(LRP6):c.2994+1G>A	LRP6	Single nucleotide variant (splice donor variant)	Tooth agenesis	GLikely pathogenic
Select item 225156	NM_002336.3(LRP6):c.2058C>G (p.Ile686Met)	LRP6 (I686M)	Single nucleotide variant (missense variant)	Orofacial cleft	GUncertain significance
Select item 225155	NM_002336.3(LRP6):c.1620G>T (p.Leu540Phe)	LRP6 (L540F)	Single nucleotide variant (missense variant)	Orofacial cleft	GUncertain significance
Select item 225151	NM_002336.3(LRP6):c.1609G>A (p.Gly537Arg)	LRP6 (G537R)	Single nucleotide variant (missense variant)	Tooth agenesis	GLikely pathogenic
Select item 225150	NM_002336.3(LRP6):c.1406C>T (p.Pro469Leu)	LRP6 (P469L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 225154	NM_002336.3(LRP6):c.1004G>T (p.Arg335Leu)	LRP6 (R335L)	Single nucleotide variant (missense variant)	Orofacial cleft	GUncertain significance
Select item 225149	NM_002336.3(LRP6):c.517C>G (p.Arg173Gly)	LRP6 (R173G)	Single nucleotide variant (missense variant)	Tooth agenesis	GLikely pathogenic