ClinVar for Gene (Select 3339) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369950	NM_005529.7(HSPG2):c.883G>A (p.Gly295Arg)	HSPG2 (G295R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369912	NM_005529.7(HSPG2):c.9264C>G (p.Thr3088=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3369902	NM_005529.7(HSPG2):c.3404C>A (p.Pro1135Gln)	HSPG2 (P1135Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368969	NM_005529.7(HSPG2):c.12170T>C (p.Val4057Ala)	HSPG2 (V4057A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365593	NM_005529.7(HSPG2):c.1522G>C (p.Gly508Arg)	HSPG2 (G508R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365557	NM_005529.7(HSPG2):c.7835C>T (p.Ser2612Leu)	HSPG2 (S2612L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365520	NM_005529.7(HSPG2):c.8474G>A (p.Gly2825Glu)	HSPG2 (G2825E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361453	NM_005529.7(HSPG2):c.11554C>T (p.Pro3852Ser)	HSPG2 (P3852S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361302	NM_005529.7(HSPG2):c.4414G>A (p.Asp1472Asn)	HSPG2 (D1472N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361065	NM_005529.7(HSPG2):c.7978A>G (p.Ile2660Val)	HSPG2 (I2660V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360568	NM_005529.7(HSPG2):c.12565C>T (p.His4189Tyr)	HSPG2 (H4189Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359329	NM_005529.7(HSPG2):c.8716G>C (p.Val2906Leu)	HSPG2 (V2906L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3354621	NM_005529.7(HSPG2):c.10150+9C>T	HSPG2	Single nucleotide variant (intron variant)	HSPG2-related disorder	GLikely benign
Select item 3352540	NM_005529.7(HSPG2):c.4002C>T (p.Cys1334=)	HSPG2	Single nucleotide variant (synonymous variant)	HSPG2-related disorder	GLikely benign
Select item 3350700	NM_005529.7(HSPG2):c.7458G>A (p.Ser2486=)	HSPG2	Single nucleotide variant (synonymous variant)	HSPG2-related disorder	GLikely benign
Select item 3344339	NM_005529.6(HSPG2):c.12816delG	HSPG2, LDLRAD2	Deletion (3 prime UTR variant)	HSPG2-related disorder	GUncertain significance
Select item 3341848	NM_005529.7(HSPG2):c.8490C>T (p.Arg2830=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3340559	NM_005529.7(HSPG2):c.4930G>A (p.Gly1644Ser)	HSPG2 (G1644S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337165	NM_005529.7(HSPG2):c.4904G>A (p.Gly1635Glu)	HSPG2 (G1635E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3285001	NM_005529.7(HSPG2):c.12250G>A (p.Gly4084Ser)	HSPG2 (G4084S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3285000	NM_005529.7(HSPG2):c.5579C>T (p.Ser1860Leu)	HSPG2 (S1861L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284999	NM_005529.7(HSPG2):c.10310G>A (p.Gly3437Glu)	HSPG2 (G3437E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284998	NM_005529.7(HSPG2):c.3277T>G (p.Tyr1093Asp)	HSPG2 (Y1093D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284997	NM_005529.7(HSPG2):c.5183G>C (p.Gly1728Ala)	HSPG2 (G1728A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284996	NM_005529.7(HSPG2):c.12583G>A (p.Gly4195Ser)	HSPG2 (G4195S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284995	NM_005529.7(HSPG2):c.4522G>T (p.Ala1508Ser)	HSPG2 (A1509S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284994	NM_005529.7(HSPG2):c.9655G>T (p.Ala3219Ser)	HSPG2 (A3219S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284993	NM_005529.7(HSPG2):c.6817C>T (p.His2273Tyr)	HSPG2, LOC126805655 (H2274Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284992	NM_005529.7(HSPG2):c.232G>T (p.Asp78Tyr)	HSPG2 (D78Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284991	NM_005529.7(HSPG2):c.11004G>C (p.Gln3668His)	HSPG2 (Q3668H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284990	NM_005529.7(HSPG2):c.5521A>T (p.Thr1841Ser)	HSPG2 (T1841S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284989	NM_005529.7(HSPG2):c.6026C>G (p.Thr2009Arg)	HSPG2 (T2010R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284988	NM_005529.7(HSPG2):c.4612G>A (p.Gly1538Ser)	HSPG2 (G1538S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284987	NM_005529.7(HSPG2):c.2725G>T (p.Gly909Cys)	HSPG2 (G909C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284986	NM_005529.7(HSPG2):c.6610C>T (p.Arg2204Trp)	HSPG2, LOC126805655 (R2204W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284985	NM_005529.7(HSPG2):c.712G>A (p.Val238Ile)	HSPG2 (V238I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284984	NM_005529.7(HSPG2):c.1058G>A (p.Arg353Gln)	HSPG2 (R353Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284983	NM_005529.7(HSPG2):c.7784C>T (p.Ser2595Leu)	HSPG2 (S2596L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284982	NM_005529.7(HSPG2):c.10754G>A (p.Arg3585His)	HSPG2 (R3586H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284981	NM_005529.7(HSPG2):c.6875G>A (p.Arg2292His)	HSPG2, LOC126805655 (R2293H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284980	NM_005529.7(HSPG2):c.6473C>T (p.Pro2158Leu)	HSPG2, LOC126805655 (P2158L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284979	NM_005529.7(HSPG2):c.10279C>T (p.Arg3427Trp)	HSPG2 (R3427W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284978	NM_005529.7(HSPG2):c.1957C>A (p.Gln653Lys)	HSPG2 (Q653K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257012	NM_005529.7(HSPG2):c.9273C>T (p.Cys3091=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3255569	NM_005529.7(HSPG2):c.7294+1G>C	HSPG2	Single nucleotide variant (splice donor variant)	Lethal Kniest-like syndrome	GLikely pathogenic
Select item 3247969	NC_000001.10:g.(?_22176581)_(22177305_?)del	HSPG2	Deletion	not provided	GLikely pathogenic
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3239254	NM_005529.7(HSPG2):c.8445A>C (p.Ser2815=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3236425	NM_005529.7(HSPG2):c.11562+1G>A	HSPG2	Single nucleotide variant (splice donor variant)	Lethal Kniest-like syndrome	GLikely pathogenic
Select item 3234496	NM_005529.7(HSPG2):c.4677C>T (p.His1559=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234395	NM_005529.7(HSPG2):c.3546G>C (p.Thr1182=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234297	NM_005529.7(HSPG2):c.7281G>A (p.Ala2427=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3233314	NM_005529.7(HSPG2):c.2875G>A (p.Ala959Thr)	HSPG2 (A959T +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome type 1	GUncertain significance
Select item 3107445	NM_005529.7(HSPG2):c.9941A>G (p.Glu3314Gly)	HSPG2 (E3315G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107444	NM_005529.7(HSPG2):c.9883G>A (p.Val3295Met)	HSPG2 (V3295M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107443	NM_005529.7(HSPG2):c.9811C>G (p.Gln3271Glu)	HSPG2 (Q3272E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107442	NM_005529.7(HSPG2):c.8861C>T (p.Ala2954Val)	HSPG2 (A2955V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107441	NM_005529.7(HSPG2):c.8329C>T (p.Arg2777Trp)	HSPG2 (R2777W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107440	NM_005529.7(HSPG2):c.8051A>G (p.His2684Arg)	HSPG2 (H2685R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107438	NM_005529.7(HSPG2):c.775G>C (p.Glu259Gln)	HSPG2 (E259Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107437	NM_005529.7(HSPG2):c.7031G>A (p.Arg2344His)	HSPG2 (R2344H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107436	NM_005529.7(HSPG2):c.6842G>C (p.Arg2281Pro)	HSPG2, LOC126805655 (R2281P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107434	NM_005529.7(HSPG2):c.6317A>G (p.Gln2106Arg)	HSPG2 (Q2107R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107433	NM_005529.7(HSPG2):c.6263G>C (p.Gly2088Ala)	HSPG2 (G2089A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107432	NM_005529.7(HSPG2):c.6226G>T (p.Gly2076Trp)	HSPG2 (G2076W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107431	NM_005529.7(HSPG2):c.6036C>G (p.Ile2012Met)	HSPG2 (I2013M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107430	NM_005529.7(HSPG2):c.5452G>A (p.Ala1818Thr)	HSPG2 (A1818T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107429	NM_005529.7(HSPG2):c.5422C>T (p.Arg1808Cys)	HSPG2 (R1808C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107428	NM_005529.7(HSPG2):c.5272C>T (p.Arg1758Trp)	HSPG2 (R1758W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107427	NM_005529.7(HSPG2):c.5078C>T (p.Ser1693Phe)	HSPG2 (S1693F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107425	NM_005529.7(HSPG2):c.3801C>G (p.Ser1267Arg)	HSPG2 (S1267R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107423	NM_005529.7(HSPG2):c.3320T>C (p.Met1107Thr)	HSPG2 (M1108T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107422	NM_005529.7(HSPG2):c.2819G>A (p.Arg940His)	HSPG2 (R941H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107421	NM_005529.7(HSPG2):c.2720C>T (p.Ala907Val)	HSPG2 (A908V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3107420	NM_005529.7(HSPG2):c.2467C>T (p.Arg823Cys)	HSPG2 (R823C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107418	NM_005529.7(HSPG2):c.1894C>T (p.Arg632Trp)	HSPG2 (R632W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107416	NM_005529.7(HSPG2):c.1676C>T (p.Ala559Val)	HSPG2 (A559V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107415	NM_005529.7(HSPG2):c.1448A>G (p.Asn483Ser)	HSPG2 (N483S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3107413	NM_005529.7(HSPG2):c.12713C>T (p.Thr4238Ile)	HSPG2, LDLRAD2 (T4238I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3107411	NM_005529.7(HSPG2):c.12353C>G (p.Thr4118Arg)	HSPG2 (T4118R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107410	NM_005529.7(HSPG2):c.12292G>A (p.Gly4098Ser)	HSPG2 (G4098S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107409	NM_005529.7(HSPG2):c.11956G>A (p.Gly3986Ser)	HSPG2 (G3986S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107408	NM_005529.7(HSPG2):c.11758C>T (p.Arg3920Trp)	HSPG2 (R3920W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107406	NM_005529.7(HSPG2):c.11477A>C (p.Gln3826Pro)	HSPG2 (Q3826P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107405	NM_005529.7(HSPG2):c.11407G>A (p.Asp3803Asn)	HSPG2 (D3803N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107403	NM_005529.7(HSPG2):c.10906G>C (p.Ala3636Pro)	HSPG2 (A3637P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107402	NM_005529.7(HSPG2):c.10753C>T (p.Arg3585Cys)	HSPG2 (R3585C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107401	NM_005529.7(HSPG2):c.10589G>T (p.Arg3530Leu)	HSPG2 (R3530L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3061970	NM_005529.7(HSPG2):c.4220A>G (p.Lys1407Arg)	HSPG2 (K1407R +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome type 1	GUncertain significance
Select item 3058369	NM_005529.7(HSPG2):c.1548C>T (p.Ala516=)	HSPG2	Single nucleotide variant (synonymous variant)	HSPG2-related disorder	GLikely benign
Select item 3057621	NM_005529.7(HSPG2):c.7377C>G (p.Leu2459=)	HSPG2	Single nucleotide variant (synonymous variant)	HSPG2-related disorder	GLikely benign
Select item 3051897	NM_005529.7(HSPG2):c.1355+4C>T	HSPG2	Single nucleotide variant (intron variant)	HSPG2-related disorder	GLikely benign
Select item 3037596	NM_005529.7(HSPG2):c.12015C>T (p.Ala4005=)	HSPG2	Single nucleotide variant (synonymous variant)	HSPG2-related disorder	GLikely benign
Select item 3032234	NM_005529.7(HSPG2):c.10524C>T (p.Phe3508=)	HSPG2	Single nucleotide variant (synonymous variant)	HSPG2-related disorder	GLikely benign
Select item 3023440	NM_005529.7(HSPG2):c.7874-6C>T	HSPG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023311	NM_005529.7(HSPG2):c.2558+12C>T	HSPG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023144	NM_005529.7(HSPG2):c.4710C>T (p.Asp1570=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022951	NM_005529.7(HSPG2):c.4029+17C>T	HSPG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021903	NM_005529.7(HSPG2):c.10151-15T>A	HSPG2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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