HSPG2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 149011	GRCh38/hg38 1p36.12(chr1:21399130-22696747)x1	ALPL, C1QA +60 more	Copy number loss	See cases	GUncertain significance
Select item 148288	GRCh38/hg38 1p36.12(chr1:21495674-22049209)x3	ALPL, CELA3A +31 more	Copy number gain	See cases	GUncertain significance
Select item 14926	NM_001013693.3(LDLRAD2):c.643+518_*1484del	HSPG2, LDLRAD2	Deletion (splice acceptor variant +1 more)	Schwartz-Jampel syndrome type 1	GPathogenic
Select item 295679	NM_001013693.3(LDLRAD2):c.*33G>A	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 876262	NM_001013693.3(LDLRAD2):c.*83T>G	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Lethal Kniest-like syndrome +1 more	GLikely benign
Select item 295680	NM_001013693.3(LDLRAD2):c.*109G>A	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Schwartz-Jampel syndrome +1 more	GBenign
Select item 876382	NM_001013693.3(LDLRAD2):c.*166G>C	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 295681	NM_001013693.3(LDLRAD2):c.*197C>T	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 295682	NM_001013693.3(LDLRAD2):c.*276C>G	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Schwartz-Jampel syndrome +1 more	GLikely benign
Select item 874431	NM_001013693.3(LDLRAD2):c.*277G>A	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 295683	NM_001013693.3(LDLRAD2):c.*284C>T	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 874432	NM_001013693.3(LDLRAD2):c.*365G>A	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Schwartz-Jampel syndrome +1 more	GBenign
Select item 295684	NM_001013693.3(LDLRAD2):c.*420G>A	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 875340	NM_001013693.3(LDLRAD2):c.*451C>T	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 295685	NM_001013693.3(LDLRAD2):c.*475G>C	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Lethal Kniest-like syndrome +1 more	GBenign
Select item 295686	NM_001013693.3(LDLRAD2):c.*478G>C	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Lethal Kniest-like syndrome +1 more	GLikely benign
Select item 295687	NM_001013693.3(LDLRAD2):c.*502T>G	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 295688	NM_001013693.3(LDLRAD2):c.*508G>A	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Schwartz-Jampel syndrome +1 more	GLikely benign
Select item 875394	NM_001013693.3(LDLRAD2):c.*551T>C	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 875395	NM_001013693.3(LDLRAD2):c.*572G>A	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 875396	NM_001013693.3(LDLRAD2):c.*671C>T	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Schwartz-Jampel syndrome +1 more	GBenign
Select item 876426	NM_001013693.3(LDLRAD2):c.*702G>T	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 876427	NM_001013693.3(LDLRAD2):c.*710C>T	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Lethal Kniest-like syndrome +1 more	GLikely benign
Select item 295689	NM_001013693.3(LDLRAD2):c.*762G>T	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 876428	NM_001013693.3(LDLRAD2):c.*797C>T	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 874471	NM_001013693.3(LDLRAD2):c.*883C>T	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 295690	NM_001013693.3(LDLRAD2):c.*893C>G	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 295691	NM_001013693.3(LDLRAD2):c.*998C>T	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 874472	NM_001013693.3(LDLRAD2):c.*1003C>T	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 874525	NM_001013693.3(LDLRAD2):c.*1056C>T	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 874526	NM_001013693.3(LDLRAD2):c.*1062G>T	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 874527	NM_001013693.3(LDLRAD2):c.*1081C>T	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 2183845	NM_005529.7(HSPG2):c.13173G>T (p.Ser4391=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 874528	NM_005529.7(HSPG2):c.13172C>T (p.Ser4391Leu)	HSPG2, LDLRAD2 (S4391L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2506374	NM_005529.7(HSPG2):c.13163_13164del (p.Pro4388fs)	HSPG2, LDLRAD2 (P4388fs +1 more)	Deletion (frameshift variant +1 more)	Schwartz-Jampel syndrome type 1	GLikely pathogenic
Select item 3107414	NM_005529.7(HSPG2):c.13160G>A (p.Arg4387His)	HSPG2, LDLRAD2 (R4388H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 875450	NM_005529.7(HSPG2):c.13159C>A (p.Arg4387Ser)	HSPG2, LDLRAD2 (R4387S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 811265	NM_005529.7(HSPG2):c.13159C>T (p.Arg4387Cys)	HSPG2, LDLRAD2 (R4387C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
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 2892823	NM_005529.7(HSPG2):c.13149G>A (p.Gly4383=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1424649	NM_005529.7(HSPG2):c.13147G>A (p.Gly4383Arg)	LDLRAD2, HSPG2 (G4383R +1 more)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +1 more	GUncertain significance
Select item 2672328	NM_005529.7(HSPG2):c.13146C>T (p.Ala4382=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1953934	NM_005529.7(HSPG2):c.13146C>G (p.Ala4382=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 295693	NM_005529.7(HSPG2):c.13145C>A (p.Ala4382Asp)	HSPG2, LDLRAD2 (A4382D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 1444146	NM_005529.7(HSPG2):c.13138G>A (p.Ala4380Thr)	HSPG2, LDLRAD2 (A4380T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 710617	NM_005529.7(HSPG2):c.13137C>T (p.Arg4379=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2187506	NM_005529.7(HSPG2):c.13136G>A (p.Arg4379His)	HSPG2, LDLRAD2 (R4380H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 295694	NM_005529.7(HSPG2):c.13119C>T (p.Pro4373=)	LDLRAD2, HSPG2	Single nucleotide variant (synonymous variant +1 more)	Schwartz-Jampel syndrome +3 more	GBenign/Likely benign
Select item 289222	NM_005529.7(HSPG2):c.13109C>G (p.Pro4370Arg)	HSPG2, LDLRAD2 (P4370R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1633222	NM_005529.7(HSPG2):c.13107G>A (p.Pro4369=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1538011	NM_005529.7(HSPG2):c.13104C>T (p.Ala4368=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 876470	NM_005529.7(HSPG2):c.13101C>T (p.Gly4367=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 806079	NM_005529.7(HSPG2):c.13099G>A (p.Gly4367Ser)	HSPG2, LDLRAD2 (G4368S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 289422	NM_005529.7(HSPG2):c.13098C>T (p.Pro4366=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
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 995707	NM_005529.7(HSPG2):c.13094G>A (p.Arg4365Gln)	HSPG2, LDLRAD2 (R4365Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 804895	NM_005529.7(HSPG2):c.13089G>A (p.Ser4363=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1928369	NM_005529.7(HSPG2):c.13088C>G (p.Ser4363Trp)	HSPG2, LDLRAD2 (S4364W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 790476	NM_005529.7(HSPG2):c.13088C>T (p.Ser4363Leu)	LDLRAD2, HSPG2 (S4364L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1077841	NM_005529.7(HSPG2):c.13083G>T (p.Leu4361=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2784438	NM_005529.7(HSPG2):c.13075C>T (p.Leu4359=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 295695	NM_005529.7(HSPG2):c.13050A>G (p.Ser4350=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	Schwartz-Jampel syndrome +2 more	GBenign
Select item 727394	NM_005529.7(HSPG2):c.13038C>G (p.Gly4346=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1009973	NM_005529.7(HSPG2):c.13034G>A (p.Gly4345Glu)	HSPG2, LDLRAD2 (G4345E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 873583	NM_005529.7(HSPG2):c.13032C>T (p.Thr4344=)	LDLRAD2, HSPG2	Single nucleotide variant (synonymous variant +1 more)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 1256146	NM_005529.7(HSPG2):c.13026G>A (p.Thr4342=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1005764	NM_005529.7(HSPG2):c.13025C>T (p.Thr4342Met)	HSPG2, LDLRAD2 (T4342M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 499443	NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met)	HSPG2, LDLRAD2 (V4340M +1 more)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +5 more	GConflicting classifications of pathogenicity
Select item 2716040	NM_005529.7(HSPG2):c.13017C>T (p.Asp4339=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1256145	NM_005529.7(HSPG2):c.13011C>T (p.Ala4337=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1497631	NM_005529.7(HSPG2):c.13006G>A (p.Gly4336Arg)	HSPG2, LDLRAD2 (G4337R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 295696	NM_005529.7(HSPG2):c.13005C>T (p.Gly4335=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	Schwartz-Jampel syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2135394	NM_001013693.3(LDLRAD2):c.*1276G>C	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 295697	NM_001013693.3(LDLRAD2):c.*1278C>T	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	Connective tissue disorder +4 more	GConflicting classifications of pathogenicity
Select item 1597401	NM_001013693.3(LDLRAD2):c.*1291G>A	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2961723	NM_001013693.3(LDLRAD2):c.*1382G>A	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2638452	NM_001013693.3(LDLRAD2):c.*1394G>A	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1912092	NM_005529.7(HSPG2):c.13003G>A (p.Gly4335Ser)	HSPG2, LDLRAD2 (G4336S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 994198	NM_005529.7(HSPG2):c.12994G>T (p.Val4332Phe)	HSPG2, LDLRAD2 (V4332F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 295699	NM_005529.7(HSPG2):c.12994G>A (p.Val4332Ile)	HSPG2, LDLRAD2 (V4332I +1 more)	Single nucleotide variant (missense variant +1 more)	Schwartz-Jampel syndrome +2 more	GBenign
Select item 2968868	NM_005529.7(HSPG2):c.12993C>T (p.Ser4331=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 295700	NM_005529.7(HSPG2):c.12992G>A (p.Ser4331Asn)	HSPG2, LDLRAD2 (S4331N +1 more)	Single nucleotide variant (missense variant +1 more)	Lethal Kniest-like syndrome +2 more	GBenign
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 875516	NM_005529.7(HSPG2):c.12988G>A (p.Gly4330Ser)	HSPG2, LDLRAD2 (G4331S +1 more)	Single nucleotide variant (missense variant +1 more)	Lethal Kniest-like syndrome +2 more	GUncertain significance
Select item 282934	NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr)	LDLRAD2, HSPG2 (A4328T +1 more)	Single nucleotide variant (missense variant +1 more)	Schwartz-Jampel syndrome +5 more	GBenign/Likely benign
Select item 2896392	NM_005529.7(HSPG2):c.12981C>T (p.Asn4327=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 735406	NM_005529.7(HSPG2):c.12969C>T (p.Asn4323=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1919458	NM_005529.7(HSPG2):c.12966C>T (p.Pro4322=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2881525	NM_005529.7(HSPG2):c.12963T>A (p.Gly4321=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1496751	NM_005529.7(HSPG2):c.12958C>T (p.Pro4320Ser)	HSPG2, LDLRAD2 (P4320S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2455147	NM_005529.7(HSPG2):c.12953G>A (p.Arg4318Gln)	HSPG2, LDLRAD2 (R4318Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2346509	NM_005529.7(HSPG2):c.12953G>C (p.Arg4318Pro)	HSPG2, LDLRAD2 (R4318P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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