ClinVar for MedGen (Select 899184) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572177	NM_002336.3(LRP6):c.4093G>T (p.Glu1365Ter)	LRP6 (E1196* +6 more)	Single nucleotide variant (nonsense +1 more)	Tooth agenesis, selective, 7	GPathogenic
Select item 2500817	NM_002336.3(LRP6):c.3095G>T (p.Cys1032Phe)	LRP6 (C1032F +3 more)	Single nucleotide variant (missense variant +1 more)	Tooth agenesis, selective, 7	GLikely pathogenic
Select item 1805121	NM_002336.3(LRP6):c.3332dup (p.Ser1111fs)	LRP6 (S1111fs)	Duplication (frameshift variant)	Tooth agenesis, selective, 7	GPathogenic
Select item 1342139	NM_002336.3(LRP6):c.3399del (p.Ala1134fs)	LRP6 (A1134fs)	Deletion (frameshift variant)	Tooth agenesis, selective, 7	GPathogenic
Select item 1328138	NM_002336.3(LRP6):c.56-2A>T	LRP6	Single nucleotide variant (splice acceptor variant +1 more)	Tooth agenesis, selective, 7	GPathogenic
Select item 1296980	NM_002336.3(LRP6):c.1154G>C (p.Arg385Pro)	LRP6 (R385P)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 7	GPathogenic
Select item 1296979	NM_002336.3(LRP6):c.2840T>C (p.Met947Thr)	LRP6 (M947T)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 7	GPathogenic
Select item 1255586	NM_002336.3(LRP6):c.3406C>T (p.Arg1136Trp)	LRP6 (R1136W)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 7 +1 more	GUncertain significance
Select item 1199176	NM_002336.3(LRP6):c.845-1G>A	LRP6	Single nucleotide variant (splice acceptor variant)	Tooth agenesis, selective, 7	GPathogenic
Select item 1033503	NM_002336.3(LRP6):c.3394_3395del (p.Ser1132fs)	LRP6 (S1132fs)	Microsatellite (frameshift variant)	Tooth agenesis, selective, 7	GPathogenic
Select item 947760	NM_002336.3(LRP6):c.1243C>T (p.Arg415Ter)	LRP6 (R415*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 816933	NM_002336.3(LRP6):c.1118A>G (p.Tyr373Cys)	LRP6 (Y373C)	Single nucleotide variant (missense variant)	Coronary artery disease, autosomal dominant 2 +1 more	GUncertain significance
Select item 723537	NM_002336.3(LRP6):c.2382C>T (p.Asn794=)	LRP6	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 7 +3 more	GBenign
Select item 723536	NM_002336.3(LRP6):c.3192A>G (p.Val1064=)	LRP6	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 7 +3 more	GBenign
Select item 689556	NM_002336.3(LRP6):c.2218C>T (p.Gln740Ter)	LRP6 (Q740*)	Single nucleotide variant (nonsense)	Tooth agenesis, selective, 7 +1 more	GPathogenic
Select item 620374	NM_002336.3(LRP6):c.1003C>T (p.Arg335Ter)	LRP6 (R335*)	Single nucleotide variant (nonsense)	Tooth agenesis, selective, 7 +2 more	GPathogenic/Likely 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 225148	NM_002336.3(LRP6):c.3398-2A>C	LRP6	Single nucleotide variant (splice acceptor variant)	Tooth agenesis	GPathogenic
Select item 218880	NM_002336.3(LRP6):c.2224_2225dup (p.Leu742fs)	LRP6 (L742fs)	Duplication (frameshift variant)	Tooth agenesis, selective, 7	GPathogenic
Select item 218879	NM_002336.3(LRP6):c.56C>T (p.Ala19Val)	LRP6 (A19V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 218878	NM_002336.3(LRP6):c.1779dup (p.Glu594Ter)	LRP6 (E594*)	Duplication (nonsense)	Tooth agenesis, selective, 7	GPathogenic

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Items: 21