"Revvity Omics, Revvity"[submitter] AND "LDLRAD2"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 295692	NM_005529.7(HSPG2):c.13153A>G (p.Asn4385Asp)	HSPG2, LDLRAD2 (N4385D +1 more)	Single nucleotide variant (missense variant +1 more)	Schwartz-Jampel syndrome +2 more	GUncertain significance
Select item 295693	NM_005529.7(HSPG2):c.13145C>A (p.Ala4382Asp)	HSPG2, LDLRAD2 (A4382D +1 more)	Single nucleotide variant (missense variant +1 more)	HSPG2-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 2288940	NM_005529.7(HSPG2):c.13135C>T (p.Arg4379Cys)	HSPG2, LDLRAD2 (R4380C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 811184	NM_005529.7(HSPG2):c.13096C>T (p.Pro4366Ser)	HSPG2, LDLRAD2 (P4366S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2432600	NM_005529.7(HSPG2):c.13094G>T (p.Arg4365Leu)	HSPG2, LDLRAD2 (R4365L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1420191	NM_005529.7(HSPG2):c.13037G>A (p.Gly4346Asp)	HSPG2, LDLRAD2 (G4346D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 447542	NM_005529.7(HSPG2):c.13033G>A (p.Gly4345Arg)	HSPG2, LDLRAD2 (G4345R +1 more)	Single nucleotide variant (missense variant +1 more)	Lethal Kniest-like syndrome +2 more	GConflicting classifications of pathogenicity
Select item 499443	NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met)	HSPG2, LDLRAD2 (V4340M +1 more)	Single nucleotide variant (missense variant +1 more)	HSPG2-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 295698	NM_005529.7(HSPG2):c.13000A>G (p.Ile4334Val)	HSPG2, LDLRAD2 (I4334V +1 more)	Single nucleotide variant (missense variant +1 more)	Lethal Kniest-like syndrome +2 more	GUncertain significance
Select item 2432656	NM_005529.7(HSPG2):c.12989G>A (p.Gly4330Asp)	HSPG2, LDLRAD2 (G4330D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2432618	NM_005529.7(HSPG2):c.12967A>T (p.Asn4323Tyr)	HSPG2, LDLRAD2 (N4323Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 447541	NM_005529.7(HSPG2):c.12952C>T (p.Arg4318Trp)	HSPG2, LDLRAD2 (R4318W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1031537	NM_005529.7(HSPG2):c.12949G>A (p.Gly4317Ser)	HSPG2, LDLRAD2 (G4318S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 804894	NM_005529.7(HSPG2):c.12929A>C (p.Asp4310Ala)	HSPG2, LDLRAD2 (D4310A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1075682	NM_005529.7(HSPG2):c.12922C>T (p.Gln4308Ter)	HSPG2, LDLRAD2 (Q4308* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 295702	NM_005529.7(HSPG2):c.12886G>C (p.Val4296Leu)	HSPG2, LDLRAD2 (V4296L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 788284	NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln)	HSPG2, LDLRAD2 (R4296Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2432640	NM_005529.7(HSPG2):c.12805C>A (p.Leu4269Ile)	HSPG2, LDLRAD2 (L4269I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 859145	NM_005529.7(HSPG2):c.12688A>G (p.Ile4230Val)	HSPG2, LDLRAD2 (I4230V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2432588	NM_005529.7(HSPG2):c.12680C>T (p.Pro4227Leu)	HSPG2, LDLRAD2 (P4227L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2185821	NM_005529.7(HSPG2):c.12676G>T (p.Val4226Leu)	HSPG2, LDLRAD2 (V4226L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2175028	NM_001013693.3(LDLRAD2):c.*2404C>T	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2432574	NM_001013693.3(LDLRAD2):c.*2486C>T	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 447540	NM_005529.7(HSPG2):c.12607G>A (p.Gly4203Arg)	HSPG2, LDLRAD2 (G4203R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance

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Items: 24