C0036391[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 875450	NM_005529.7(HSPG2):c.13159C>A (p.Arg4387Ser)	HSPG2, LDLRAD2 (R4387S +1 more)	Single nucleotide variant (missense variant +1 more)	Schwartz-Jampel syndrome +2 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 295693	NM_005529.7(HSPG2):c.13145C>A (p.Ala4382Asp)	HSPG2, LDLRAD2 (A4382D +1 more)	Single nucleotide variant (missense variant +1 more)	HSPG2-related condition +5 more	GConflicting classifications of pathogenicity
Select item 295694	NM_005529.7(HSPG2):c.13119C>T (p.Pro4373=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	Connective tissue disorder +3 more	GBenign/Likely 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 790476	NM_005529.7(HSPG2):c.13088C>T (p.Ser4363Leu)	HSPG2, LDLRAD2 (S4364L +1 more)	Single nucleotide variant (missense variant +1 more)	HSPG2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 295695	NM_005529.7(HSPG2):c.13050A>G (p.Ser4350=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 447542	NM_005529.7(HSPG2):c.13033G>A (p.Gly4345Arg)	LDLRAD2, HSPG2 (G4345R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +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 499443	NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met)	HSPG2, LDLRAD2 (V4340M +1 more)	Single nucleotide variant (missense variant +1 more)	HSPG2-related condition +5 more	GConflicting classifications of pathogenicity
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 295697	NM_001013693.3(LDLRAD2):c.*1278C>T	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +4 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 295699	NM_005529.7(HSPG2):c.12994G>A (p.Val4332Ile)	HSPG2, LDLRAD2 (V4332I +1 more)	Single nucleotide variant (missense variant +1 more)	Lethal Kniest-like syndrome +2 more	GBenign
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 875516	NM_005529.7(HSPG2):c.12988G>A (p.Gly4330Ser)	LDLRAD2, HSPG2 (G4331S +1 more)	Single nucleotide variant (missense variant +1 more)	Schwartz-Jampel syndrome +2 more	GUncertain significance
Select item 282934	NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr)	HSPG2, LDLRAD2 (A4328T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 295701	NM_005529.7(HSPG2):c.12952C>A (p.Arg4318=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
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 199234	NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys)	HSPG2, LDLRAD2 (E4292K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 295703	NM_001013693.3(LDLRAD2):c.*2087C>T	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	Connective tissue disorder +4 more	GBenign
Select item 618174	NM_005529.7(HSPG2):c.12801G>T (p.Gly4267=)	LDLRAD2, HSPG2	Single nucleotide variant (synonymous variant +1 more)	Schwartz-Jampel syndrome +4 more	GBenign/Likely benign
Select item 295704	NM_005529.7(HSPG2):c.12786C>T (p.Leu4262=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity
Select item 873638	NM_005529.7(HSPG2):c.12751G>A (p.Gly4251Arg)	HSPG2, LDLRAD2 (G4252R +1 more)	Single nucleotide variant (missense variant +1 more)	Schwartz-Jampel syndrome +2 more	GUncertain significance
Select item 873639	NM_001013693.3(LDLRAD2):c.*2170G>A	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 295705	NM_005529.7(HSPG2):c.12558C>T (p.Ser4186=)	HSPG2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +3 more	GBenign
Select item 874633	NM_005529.7(HSPG2):c.12533-15T>C	HSPG2	Single nucleotide variant (intron variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 295706	NM_005529.7(HSPG2):c.12353C>T (p.Thr4118Met)	HSPG2 (T4118M +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +2 more	GUncertain significance
Select item 874634	NM_005529.7(HSPG2):c.12345T>G (p.His4115Gln)	HSPG2 (H4115Q +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 295707	NM_005529.7(HSPG2):c.12312T>C (p.Asp4104=)	HSPG2	Single nucleotide variant (synonymous variant)	Lethal Kniest-like syndrome +2 more	GBenign
Select item 875571	NM_005529.7(HSPG2):c.12256C>T (p.Arg4086Trp)	HSPG2 (R4087W +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +2 more	GConflicting classifications of pathogenicity
Select item 875572	NM_005529.7(HSPG2):c.12221G>A (p.Arg4074His)	HSPG2 (R4074H +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +3 more	GConflicting classifications of pathogenicity
Select item 447539	NM_005529.7(HSPG2):c.12220C>T (p.Arg4074Cys)	HSPG2 (R4074C +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +4 more	GBenign
Select item 295708	NM_005529.7(HSPG2):c.12212C>T (p.Ala4071Val)	HSPG2 (A4071V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 596005	NM_005529.7(HSPG2):c.12195G>A (p.Pro4065=)	HSPG2	Single nucleotide variant (synonymous variant)	Lethal Kniest-like syndrome +3 more	GConflicting classifications of pathogenicity
Select item 876567	NM_005529.7(HSPG2):c.12143T>C (p.Leu4048Pro)	HSPG2 (L4048P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 876568	NM_005529.7(HSPG2):c.12110G>T (p.Arg4037Leu)	HSPG2 (R4038L +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +2 more	GConflicting classifications of pathogenicity
Select item 295709	NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 873709	NM_005529.7(HSPG2):c.12016G>A (p.Glu4006Lys)	HSPG2 (E4006K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 295710	NM_005529.7(HSPG2):c.12007C>T (p.Arg4003Trp)	HSPG2 (R4003W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 198971	NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val)	HSPG2 (L4002V +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 873710	NM_005529.7(HSPG2):c.11946G>A (p.Leu3982=)	HSPG2	Single nucleotide variant (synonymous variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 790298	NM_005529.7(HSPG2):c.11937C>T (p.Phe3979=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 594359	NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu)	HSPG2 (V3955L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 295711	NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr)	HSPG2 (A3943T +1 more)	Single nucleotide variant (missense variant)	HSPG2-related condition +5 more	GConflicting classifications of pathogenicity
Select item 295712	NM_005529.7(HSPG2):c.11826C>T (p.Pro3942=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 874681	NM_005529.7(HSPG2):c.11712C>T (p.Asp3904=)	HSPG2	Single nucleotide variant (synonymous variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 780221	NM_005529.7(HSPG2):c.11685C>G (p.Pro3895=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 295713	NM_005529.7(HSPG2):c.11671+15C>T	HSPG2	Single nucleotide variant (intron variant)	Lethal Kniest-like syndrome +2 more	GBenign/Likely benign
Select item 875624	NM_005529.7(HSPG2):c.11671+11C>T	HSPG2	Single nucleotide variant (intron variant)	Schwartz-Jampel syndrome +2 more	GConflicting classifications of pathogenicity
Select item 875625	NM_005529.7(HSPG2):c.11671+10C>T	HSPG2	Single nucleotide variant (intron variant)	Schwartz-Jampel syndrome +3 more	GBenign/Likely benign
Select item 295714	NM_005529.7(HSPG2):c.11671+5G>A	HSPG2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 774793	NM_005529.7(HSPG2):c.11649G>A (p.Ser3883=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 295715	NM_005529.7(HSPG2):c.11648C>G (p.Ser3883Trp)	HSPG2 (S3883W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 876624	NM_005529.7(HSPG2):c.11602G>A (p.Val3868Met)	HSPG2 (V3868M +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +2 more	GUncertain significance
Select item 295716	NM_005529.7(HSPG2):c.11601C>T (p.Tyr3867=)	HSPG2	Single nucleotide variant (synonymous variant)	Schwartz-Jampel syndrome +3 more	GBenign
Select item 295717	NM_005529.7(HSPG2):c.11568C>T (p.Gly3856=)	HSPG2	Single nucleotide variant (synonymous variant)	HSPG2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 198958	NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=)	HSPG2	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 295718	NM_005529.7(HSPG2):c.11422C>T (p.Pro3808Ser)	HSPG2 (P3808S +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +1 more	GUncertain significance
Select item 295719	NM_005529.7(HSPG2):c.11353-13C>T	HSPG2	Single nucleotide variant (intron variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 295720	NM_005529.7(HSPG2):c.11340T>C (p.Asn3780=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 295721	NM_005529.7(HSPG2):c.11294G>A (p.Ser3765Asn)	HSPG2 (S3765N +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 295722	NM_005529.7(HSPG2):c.11289G>A (p.Leu3763=)	HSPG2	Single nucleotide variant (synonymous variant)	Schwartz-Jampel syndrome +3 more	GBenign/Likely benign
Select item 875668	NM_005529.7(HSPG2):c.11261T>C (p.Leu3754Pro)	HSPG2 (L3755P +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +2 more	GUncertain significance
Select item 838571	NM_005529.7(HSPG2):c.11200G>A (p.Glu3734Lys)	HSPG2 (E3734K +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +3 more	GUncertain significance
Select item 875669	NM_005529.7(HSPG2):c.11187G>A (p.Val3729=)	HSPG2	Single nucleotide variant (synonymous variant)	Schwartz-Jampel syndrome +2 more	GConflicting classifications of pathogenicity
Select item 295723	NM_005529.7(HSPG2):c.11187G>T (p.Val3729=)	HSPG2	Single nucleotide variant (synonymous variant)	Lethal Kniest-like syndrome +2 more	GBenign
Select item 295724	NM_005529.7(HSPG2):c.11082C>T (p.Pro3694=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 876667	NM_005529.7(HSPG2):c.11077C>T (p.Arg3693Trp)	HSPG2 (R3693W +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +3 more	GUncertain significance

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