"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1424649	NM_005529.7(HSPG2):c.13147G>A (p.Gly4383Arg)	HSPG2, LDLRAD2 (G4383R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 295694	NM_005529.7(HSPG2):c.13119C>T (p.Pro4373=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	Lethal Kniest-like syndrome +3 more	GBenign/Likely benign
Select item 499443	NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met)	HSPG2, LDLRAD2 (V4340M +1 more)	Single nucleotide variant (missense variant +1 more)	Schwartz-Jampel syndrome +4 more	GConflicting classifications of pathogenicity
Select item 295697	NM_005529.7(HSPG2):c.13004-5G>A	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	Schwartz-Jampel syndrome +4 more	GConflicting classifications of pathogenicity
Select item 282934	NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr)	LDLRAD2, HSPG2 (A4328T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 295703	NM_005529.7(HSPG2):c.12815+4G>A	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal Kniest-like syndrome +4 more	GBenign
Select item 618174	NM_005529.7(HSPG2):c.12801G>T (p.Gly4267=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	Schwartz-Jampel syndrome +4 more	GBenign/Likely benign
Select item 295704	NM_005529.7(HSPG2):c.12786C>T (p.Leu4262=)	LDLRAD2, HSPG2	Single nucleotide variant (synonymous variant +1 more)	Lethal Kniest-like syndrome +3 more	GConflicting classifications of pathogenicity