"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 195167	NM_002335.4(LRP5):c.263A>G (p.Lys88Arg)	LRP5 (K88R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 668439	NM_002335.4(LRP5):c.459G>A (p.Pro153=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 488970	NM_002335.4(LRP5):c.1413-7T>A	LRP5	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 258634	NM_002335.4(LRP5):c.1647T>C (p.Phe549=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1299906	NM_002335.4(LRP5):c.1801+675A>G	LRP5 (T6A)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2920778	NM_002335.4(LRP5):c.1801+729G>A	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 593775	NM_002335.4(LRP5):c.2009C>T (p.Pro670Leu)	LRP5 (P670L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 382550	NM_002335.4(LRP5):c.2139G>A (p.Val713=)	LRP5	Single nucleotide variant (synonymous variant)	Exudative vitreoretinopathy 4 +9 more	GBenign/Likely benign
Select item 193640	NM_002335.4(LRP5):c.2295G>A (p.Ser765=)	LRP5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 183255	NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)	LRP5 (R1036Q +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +11 more	GConflicting classifications of pathogenicity
Select item 1165430	NM_002335.4(LRP5):c.3236+21_3236+24del	LRP5	Microsatellite (intron variant)	not provided	GBenign
Select item 2428655	NM_002335.4(LRP5):c.3322ACC[1] (p.Thr1109del)	LRP5 (T1109del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 770977	NM_002335.4(LRP5):c.3564G>A (p.Arg1188=)	LRP5	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +1 more	GBenign
Select item 735098	NM_002335.4(LRP5):c.3888C>T (p.Pro1296=)	LRP5	Single nucleotide variant (synonymous variant)	Exudative vitreoretinopathy 1 +8 more	GLikely benign
Select item 194836	NM_002335.4(LRP5):c.4000+10T>A	LRP5	Single nucleotide variant (intron variant)	Increased bone mineral density +3 more	GBenign
Select item 195485	NM_002335.4(LRP5):c.4278T>C (p.Tyr1426=)	LRP5	Single nucleotide variant (synonymous variant)	Exudative vitreoretinopathy 1 +9 more	GBenign/Likely benign
Select item 2920893	NM_002335.4(LRP5):c.4489-15C>G	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 195672	NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val)	LRP5 (A1525V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 512260	NM_002335.4(LRP5):c.4623G>A (p.Thr1541=)	LRP5	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +1 more	GBenign/Likely benign
Select item 36482	NM_002335.4(LRP5):c.4635C>T (p.Thr1545=)	LRP5	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +3 more	GBenign/Likely benign
Select item 1915470	NM_002335.4(LRP5):c.4636G>A (p.Asp1546Asn)	LRP5 (D965N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 258641	NM_002335.4(LRP5):c.4788C>T (p.Thr1596=)	LRP5	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign

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Items: 22