ClinVar for MedGen (Select 370259) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068176	NM_004341.5(CAD):c.5734_5757dup (p.His1919_Ser1920insProGlnThrSerProLeuLeuHis)	CAD	Duplication (inframe_insertion)	Coronary artery disease, autosomal dominant 2	GUncertain significance
Select item 3067863	NM_004341.5(CAD):c.5077G>A (p.Glu1693Lys)	CAD (E1630K +1 more)	Single nucleotide variant (missense variant)	Coronary artery disease, autosomal dominant 2	GUncertain significance
Select item 3067838	NM_004341.5(CAD):c.3719G>T (p.Arg1240Leu)	CAD (R1177L +1 more)	Single nucleotide variant (missense variant)	Coronary artery disease, autosomal dominant 2	GUncertain significance
Select item 1524709	NM_004341.5(CAD):c.1408G>A (p.Asp470Asn)	CAD (D470N)	Single nucleotide variant (missense variant)	Coronary artery disease, autosomal dominant 2 +1 more	GUncertain significance
Select item 1394380	NM_002336.3(LRP6):c.2203G>A (p.Asp735Asn)	LRP6 (D735N)	Single nucleotide variant (missense variant)	Coronary artery disease, autosomal dominant 2 +1 more	GUncertain significance
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 66056	NM_002336.3(LRP6):c.1079G>A (p.Arg360His)	LRP6 (R360H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 66055	NM_002336.3(LRP6):c.1418G>A (p.Arg473Gln)	LRP6 (R473Q)	Single nucleotide variant (missense variant)	Coronary artery disease, autosomal dominant 2	GPathogenic
Select item 66054	NM_002336.3(LRP6):c.1298A>G (p.Asn433Ser)	LRP6 (N433S)	Single nucleotide variant (missense variant)	Coronary artery disease, autosomal dominant 2	GPathogenic
Select item 6267	NM_002336.3(LRP6):c.1831C>T (p.Arg611Cys)	LRP6 (R611C)	Single nucleotide variant (missense variant)	LRP6-related condition	GPathogenic