"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1424649	NM_005529.7(HSPG2):c.13147G>A (p.Gly4383Arg)	HSPG2, LDLRAD2 (G4383R +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=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	Connective tissue disorder +3 more	GBenign/Likely benign
Select item 499443	NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met)	LDLRAD2, HSPG2 (V4340M +1 more)	Single nucleotide variant (missense variant +1 more)	Schwartz-Jampel syndrome +4 more	GConflicting classifications of pathogenicity
Select item 295697	NM_005529.7(HSPG2):c.13004-5G>A	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	Schwartz-Jampel syndrome +4 more	GConflicting classifications of pathogenicity
Select item 282934	NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr)	HSPG2, LDLRAD2 (A4328T +1 more)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +4 more	GBenign/Likely benign
Select item 295703	NM_005529.7(HSPG2):c.12815+4G>A	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +4 more	GBenign
Select item 618174	NM_005529.7(HSPG2):c.12801G>T (p.Gly4267=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 295704	NM_005529.7(HSPG2):c.12786C>T (p.Leu4262=)	LDLRAD2, HSPG2	Single nucleotide variant (synonymous variant +1 more)	Lethal Kniest-like syndrome +3 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 1702427	NM_005529.7(HSPG2):c.12532+4C>T	HSPG2	Single nucleotide variant (intron variant)	Connective tissue disorder	GUncertain significance
Select item 1702426	NM_005529.7(HSPG2):c.12363C>T (p.Pro4121=)	HSPG2	Single nucleotide variant (synonymous variant)	Connective tissue disorder	GUncertain significance
Select item 1702425	NM_005529.7(HSPG2):c.12361C>G (p.Pro4121Ala)	HSPG2 (P4121A +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder	GUncertain significance
Select item 447539	NM_005529.7(HSPG2):c.12220C>T (p.Arg4074Cys)	HSPG2 (R4074C +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +3 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 746191	NM_005529.7(HSPG2):c.11970G>A (p.Glu3990=)	HSPG2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 790298	NM_005529.7(HSPG2):c.11937C>T (p.Phe3979=)	HSPG2	Single nucleotide variant (synonymous variant)	Schwartz-Jampel syndrome +3 more	GBenign/Likely benign
Select item 1048982	NM_005529.7(HSPG2):c.11920G>A (p.Gly3974Arg)	HSPG2 (G3974R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1702424	NM_005529.7(HSPG2):c.11904C>T (p.Phe3968=)	HSPG2	Single nucleotide variant (synonymous variant)	Connective tissue disorder	GUncertain significance
Select item 295711	NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr)	HSPG2 (A3943T +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 295716	NM_005529.7(HSPG2):c.11601C>T (p.Tyr3867=)	HSPG2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +3 more	GBenign
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 295721	NM_005529.7(HSPG2):c.11294G>A (p.Ser3765Asn)	HSPG2 (S3765N +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 295722	NM_005529.7(HSPG2):c.11289G>A (p.Leu3763=)	HSPG2	Single nucleotide variant (synonymous variant)	Lethal Kniest-like syndrome +3 more	GBenign/Likely benign
Select item 295726	NM_005529.7(HSPG2):c.10918G>A (p.Val3640Ile)	HSPG2 (V3640I +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 446053	NM_005529.7(HSPG2):c.10702G>A (p.Val3568Ile)	HSPG2 (V3568I +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +4 more	GBenign/Likely benign
Select item 295731	NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=)	HSPG2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +4 more	GBenign/Likely benign
Select item 722034	NM_005529.7(HSPG2):c.10588C>T (p.Arg3530Trp)	HSPG2 (R3530W +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 198669	NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met)	HSPG2 (V3500M +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +5 more	GBenign/Likely benign
Select item 295743	NM_005529.7(HSPG2):c.10248C>T (p.Ser3416=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 295746	NM_005529.7(HSPG2):c.10110G>A (p.Lys3370=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 295751	NM_005529.7(HSPG2):c.9790A>G (p.Ile3264Val)	HSPG2 (I3264V +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GBenign
Select item 447569	NM_005529.7(HSPG2):c.9789C>A (p.Leu3263=)	HSPG2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1330932	NM_005529.7(HSPG2):c.9717C>T (p.Pro3239=)	HSPG2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 1702439	NM_005529.7(HSPG2):c.9616G>A (p.Ala3206Thr)	HSPG2 (A3206T +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder	GUncertain significance
Select item 295757	NM_005529.7(HSPG2):c.9540G>A (p.Ala3180=)	HSPG2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 447568	NM_005529.7(HSPG2):c.9514-3C>T	HSPG2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 295765	NM_005529.7(HSPG2):c.8939T>A (p.Leu2980His)	HSPG2 (L2980H +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GBenign
Select item 439807	NM_005529.7(HSPG2):c.8929C>T (p.Arg2977Trp)	HSPG2 (R2977W +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +3 more	GBenign/Likely benign
Select item 295768	NM_005529.7(HSPG2):c.8848G>A (p.Gly2950Arg)	HSPG2 (G2950R +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GBenign
Select item 1702438	NM_005529.7(HSPG2):c.8787C>T (p.Ile2929=)	HSPG2	Single nucleotide variant (synonymous variant)	Connective tissue disorder	GUncertain significance
Select item 289068	NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu)	HSPG2 (V2849L +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +4 more	GBenign/Likely benign
Select item 736738	NM_005529.7(HSPG2):c.8330G>A (p.Arg2777Gln)	HSPG2 (R2778Q +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +3 more	GBenign/Likely benign
Select item 1702437	NM_005529.7(HSPG2):c.8317-7T>C	HSPG2	Single nucleotide variant (intron variant)	Connective tissue disorder	GUncertain significance
Select item 1702436	NM_005529.7(HSPG2):c.8301C>T (p.Leu2767=)	HSPG2	Single nucleotide variant (synonymous variant)	Connective tissue disorder	GUncertain significance
Select item 1702435	NM_005529.7(HSPG2):c.8152G>A (p.Gly2718Ser)	HSPG2 (G2718S +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder	GUncertain significance
Select item 295780	NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp)	HSPG2 (R2682W +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 295781	NM_005529.7(HSPG2):c.8026-5T>C	HSPG2	Single nucleotide variant (intron variant)	Connective tissue disorder +3 more	GBenign
Select item 295785	NM_005529.7(HSPG2):c.7806C>A (p.Val2602=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 295789	NM_005529.7(HSPG2):c.7532C>T (p.Thr2511Ile)	HSPG2 (T2511I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 295790	NM_005529.7(HSPG2):c.7509C>T (p.Cys2503=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 771686	NM_005529.7(HSPG2):c.7296A>T (p.Ala2432=)	HSPG2	Single nucleotide variant (synonymous variant)	Schwartz-Jampel syndrome +4 more	GBenign/Likely benign
Select item 295795	NM_005529.7(HSPG2):c.7191G>A (p.Ala2397=)	HSPG2	Single nucleotide variant (synonymous variant)	Schwartz-Jampel syndrome +3 more	GBenign/Likely benign
Select item 287865	NM_005529.7(HSPG2):c.7086C>T (p.Cys2362=)	HSPG2	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 295801	NM_005529.7(HSPG2):c.7035C>T (p.Ile2345=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1702434	NM_005529.7(HSPG2):c.7030C>T (p.Arg2344Cys)	HSPG2 (R2344C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 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)	not provided +4 more	GUncertain significance
Select item 1702433	NM_005529.7(HSPG2):c.6802G>A (p.Val2268Met)	HSPG2, LOC126805655 (V2268M +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder	GUncertain significance
Select item 1702432	NM_005529.7(HSPG2):c.6706G>A (p.Glu2236Lys)	HSPG2, LOC126805655 (E2236K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 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 295810	NM_005529.7(HSPG2):c.6552G>A (p.Thr2184=)	HSPG2, LOC126805655	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 285614	NM_005529.7(HSPG2):c.6402G>A (p.Val2134=)	HSPG2	Single nucleotide variant (synonymous variant)	Schwartz-Jampel syndrome +4 more	GBenign
Select item 1419790	NM_005529.7(HSPG2):c.6307C>T (p.Arg2103Trp)	HSPG2 (R2104W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 295815	NM_005529.7(HSPG2):c.6114C>G (p.Ile2038Met)	HSPG2 (I2038M +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GBenign
Select item 295816	NM_005529.7(HSPG2):c.6105G>A (p.Gln2035=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 295820	NM_005529.7(HSPG2):c.5998-7A>G	HSPG2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 295823	NM_005529.7(HSPG2):c.5899G>A (p.Val1967Ile)	HSPG2 (V1967I +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GBenign
Select item 197547	NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys)	HSPG2 (R1919C +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 295827	NM_005529.7(HSPG2):c.5742C>T (p.His1914=)	HSPG2	Single nucleotide variant (synonymous variant)	Lethal Kniest-like syndrome +4 more	GBenign/Likely benign
Select item 197549	NM_005529.7(HSPG2):c.5702-5G>A	HSPG2	Single nucleotide variant (intron variant)	Lethal Kniest-like syndrome +4 more	GBenign
Select item 618172	NM_005529.7(HSPG2):c.5442G>A (p.Leu1814=)	HSPG2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 806083	NM_005529.7(HSPG2):c.5423G>A (p.Arg1808His)	HSPG2 (R1809H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 295834	NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val)	HSPG2 (A1766V +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +4 more	GConflicting classifications of pathogenicity
Select item 804902	NM_005529.7(HSPG2):c.5206G>A (p.Val1736Ile)	HSPG2 (V1736I +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +1 more	GUncertain significance
Select item 711663	NM_005529.7(HSPG2):c.5160C>T (p.Ser1720=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1702431	NM_005529.7(HSPG2):c.4868+4G>A	HSPG2	Single nucleotide variant (intron variant)	Connective tissue disorder	GUncertain significance
Select item 295841	NM_005529.7(HSPG2):c.4647G>A (p.Thr1549=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 287524	NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg)	HSPG2 (P1534R +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +4 more	GConflicting classifications of pathogenicity
Select item 295845	NM_005529.7(HSPG2):c.4488G>A (p.Thr1496=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 295851	NM_005529.7(HSPG2):c.3945T>C (p.Ser1315=)	HSPG2	Single nucleotide variant (synonymous variant)	Lethal Kniest-like syndrome +4 more	GConflicting classifications of pathogenicity
Select item 295855	NM_005529.7(HSPG2):c.3708G>A (p.Ala1236=)	HSPG2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +4 more	GBenign/Likely benign
Select item 447549	NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu)	HSPG2 (A1236E +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +3 more	GConflicting classifications of pathogenicity
Select item 712885	NM_005529.7(HSPG2):c.3651C>T (p.Ala1217=)	HSPG2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 1702430	NM_005529.7(HSPG2):c.3445A>T (p.Ser1149Cys)	HSPG2 (S1149C +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder	GUncertain significance
Select item 1702429	NM_005529.7(HSPG2):c.3414+5G>A	HSPG2	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 195825	NM_005529.7(HSPG2):c.3056C>T (p.Pro1019Leu)	HSPG2 (P1019L +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +3 more	GBenign/Likely benign
Select item 235713	NM_005529.7(HSPG2):c.2869A>C (p.Asn957His)	HSPG2 (N957H +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign
Select item 283521	NM_005529.7(HSPG2):c.2725G>A (p.Gly909Ser)	HSPG2 (G909S +1 more)	Single nucleotide variant (missense variant)	HSPG2-related disorder +5 more	GUncertain significance
Select item 209161	NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser)	HSPG2 (N786S +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1520754	NM_005529.7(HSPG2):c.2226C>T (p.Cys742=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 194641	NM_005529.7(HSPG2):c.2074G>A (p.Val692Met)	HSPG2 (V692M +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +4 more	GConflicting classifications of pathogenicity
Select item 194520	NM_005529.7(HSPG2):c.1998+9C>T	HSPG2	Single nucleotide variant (intron variant)	Lethal Kniest-like syndrome +4 more	GBenign/Likely benign
Select item 774794	NM_005529.7(HSPG2):c.1557G>A (p.Leu519=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 726035	NM_005529.7(HSPG2):c.1549G>A (p.Ala517Thr)	HSPG2 (A518T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1640698	NM_005529.7(HSPG2):c.1534C>T (p.Leu512=)	HSPG2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 1702428	NM_005529.7(HSPG2):c.1371C>T (p.Ser457=)	HSPG2	Single nucleotide variant (synonymous variant)	Connective tissue disorder	GUncertain significance
Select item 993585	NM_005529.7(HSPG2):c.1355+5G>A	HSPG2	Single nucleotide variant (intron variant)	Connective tissue disorder +1 more	GUncertain significance
Select item 993662	NM_005529.7(HSPG2):c.1259G>A (p.Arg420Gln)	HSPG2 (R420Q)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GUncertain significance
Select item 772678	NM_005529.7(HSPG2):c.1167C>T (p.Asp389=)	HSPG2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +4 more	GBenign/Likely benign
Select item 295905	NM_005529.7(HSPG2):c.831C>T (p.Pro277=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1202488	NM_005529.7(HSPG2):c.745G>A (p.Val249Met)	HSPG2 (V249M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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