"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 282934	NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr)	LDLRAD2, HSPG2 (A4328T +1 more)	Single nucleotide variant (missense variant +1 more)	Lethal Kniest-like syndrome +4 more	GBenign/Likely benign
Select item 295731	NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=)	HSPG2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +4 more	GBenign/Likely benign
Select item 439807	NM_005529.7(HSPG2):c.8929C>T (p.Arg2977Trp)	HSPG2 (R2977W +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +3 more	GBenign/Likely benign
Select item 295768	NM_005529.7(HSPG2):c.8848G>A (p.Gly2950Arg)	HSPG2 (G2950R +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GBenign
Select item 289068	NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu)	HSPG2 (V2849L +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 290770	NM_005529.7(HSPG2):c.7337C>T (p.Ser2446Leu)	HSPG2 (S2446L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 771686	NM_005529.7(HSPG2):c.7296A>T (p.Ala2432=)	HSPG2	Single nucleotide variant (synonymous variant)	Schwartz-Jampel syndrome +4 more	GBenign/Likely benign
Select item 295815	NM_005529.7(HSPG2):c.6114C>G (p.Ile2038Met)	HSPG2 (I2038M +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +3 more	GBenign
Select item 295820	NM_005529.7(HSPG2):c.5998-7A>G	HSPG2	Single nucleotide variant (intron variant)	Lethal Kniest-like syndrome +3 more	GBenign/Likely benign
Select item 197547	NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys)	HSPG2 (R1919C +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 197010	NM_005529.7(HSPG2):c.4627-3del	HSPG2	Deletion (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 295896	NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln)	HSPG2 (R413Q)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign