Related gene-specific medical variations for Gene (Select 4040) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244381	NC_000012.11:g.(?_12312011)_(12318131_?)dup	LRP6	Duplication	not provided	GLikely pathogenic
Select item 3244380	NC_000012.11:g.(?_12317187)_(12419669_?)dup	LRP6	Duplication	not provided	GUncertain significance
Select item 3244379	NC_000012.11:g.(?_12300280)_(12303992_?)del	LRP6	Deletion	not provided	GUncertain significance
Select item 2576112	NM_002336.3(LRP6):c.1927dup (p.Arg643fs)	LRP6 (R492fs +2 more)	Duplication (frameshift variant +2 more)	not provided	GLikely pathogenic
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 1697975	NM_002336.3(LRP6):c.1762+2T>C	LRP6	Single nucleotide variant (splice donor variant +1 more)	Oligodontia	GPathogenic
Select item 1697974	NM_002336.3(LRP6):c.1870dup (p.Met624fs)	LRP6 (M624fs)	Duplication (frameshift variant)	Oligodontia	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 1266672	NM_002336.3(LRP6):c.-50C>A	LOC130007435, LRP6	Single nucleotide variant (5 prime UTR variant)	not provided	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 221487	GRCh38/hg38 12p13.2(chr12:12198797-12200966)x1	LRP6	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 161594	NM_002336.3(LRP6):c.3241C>G (p.Pro1081Ala)	LRP6 (P1081A)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance