"Revvity Omics, Revvity"[submitter] AND "LOC126805655"[gene] - ClinVar - NCBI

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Items: 14

	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 2432636	NM_005529.7(HSPG2):c.6831A>G (p.Thr2277=)	HSPG2, LOC126805655	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 295806	NM_005529.7(HSPG2):c.6808G>A (p.Gly2270Arg)	HSPG2, LOC126805655 (G2270R +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +4 more	GUncertain significance
Select item 2277081	NM_005529.7(HSPG2):c.6772G>A (p.Glu2258Lys)	HSPG2, LOC126805655 (E2258K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2432601	NM_005529.7(HSPG2):c.6763A>G (p.Thr2255Ala)	HSPG2, LOC126805655 (T2255A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1324553	NM_005529.7(HSPG2):c.6725-11_6734del	HSPG2, LOC126805655	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1062850	NM_005529.7(HSPG2):c.6727C>A (p.Pro2243Thr)	HSPG2, LOC126805655 (P2243T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174291	NM_005529.7(HSPG2):c.6563G>A (p.Arg2188His)	HSPG2, LOC126805655 (R2188H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 284845	NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr)	HSPG2, LOC126805655 (A2181T +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1932118	NM_005529.7(HSPG2):c.6518G>A (p.Cys2173Tyr)	HSPG2, LOC126805655 (C2174Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 295811	NM_005529.7(HSPG2):c.6491C>T (p.Ala2164Val)	HSPG2, LOC126805655 (A2164V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2184863	NM_005529.7(HSPG2):c.6487G>A (p.Val2163Met)	HSPG2, LOC126805655 (V2163M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 592983	NM_005529.7(HSPG2):c.6484C>T (p.His2162Tyr)	HSPG2, LOC126805655 (H2162Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698303	NM_005529.7(HSPG2):c.6469G>A (p.Glu2157Lys)	HSPG2, LOC126805655 (E2157K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance