"Illumina Laboratory Services, Illumina"[submitter] AND "LOC126805655" - ClinVar - NCBI

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

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 875251	NM_005529.7(HSPG2):c.6842G>A (p.Arg2281His)	HSPG2, LOC126805655 (R2281H +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome type 1 +3 more	GUncertain significance
Select item 295806	NM_005529.7(HSPG2):c.6808G>A (p.Gly2270Arg)	HSPG2, LOC126805655 (G2270R +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +4 more	GUncertain significance
Select item 295807	NM_005529.7(HSPG2):c.6673G>A (p.Gly2225Ser)	HSPG2, LOC126805655 (G2225S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 295808	NM_005529.7(HSPG2):c.6660G>C (p.Val2220=)	HSPG2, LOC126805655	Single nucleotide variant (synonymous variant)	Schwartz-Jampel syndrome +2 more	GConflicting classifications of pathogenicity
Select item 295809	NM_005529.7(HSPG2):c.6648T>C (p.Tyr2216=)	HSPG2, LOC126805655	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 876217	NM_005529.7(HSPG2):c.6640G>A (p.Gly2214Ser)	HSPG2, LOC126805655 (G2214S +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 876346	NM_005529.7(HSPG2):c.6629C>T (p.Pro2210Leu)	HSPG2, LOC126805655 (P2211L +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +2 more	GUncertain significance
Select item 295810	NM_005529.7(HSPG2):c.6552G>A (p.Thr2184=)	HSPG2, LOC126805655	Single nucleotide variant (synonymous variant)	Lethal Kniest-like syndrome +3 more	GBenign
Select item 284845	NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr)	HSPG2, LOC126805655 (A2181T +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 876347	NM_005529.7(HSPG2):c.6492G>A (p.Ala2164=)	HSPG2, LOC126805655	Single nucleotide variant (synonymous variant)	Schwartz-Jampel syndrome +3 more	GConflicting classifications of pathogenicity
Select item 295811	NM_005529.7(HSPG2):c.6491C>T (p.Ala2164Val)	HSPG2, LOC126805655 (A2164V +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +3 more	GUncertain significance
Select item 874389	NM_005529.7(HSPG2):c.6487G>T (p.Val2163Leu)	HSPG2, LOC126805655 (V2164L +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 874390	NM_005529.7(HSPG2):c.6468C>T (p.Ile2156=)	HSPG2, LOC126805655	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity