HSPG2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2101199	NM_005529.7(HSPG2):c.12584G>A (p.Gly4195Asp)	HSPG2 (G4196D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1427804	NM_005529.7(HSPG2):c.12581G>T (p.Gly4194Val)	HSPG2 (G4194V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716798	NM_005529.7(HSPG2):c.12580G>A (p.Gly4194Arg)	HSPG2 (G4194R +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2976909	NM_005529.7(HSPG2):c.12579del (p.Ser4193fs)	HSPG2 (S4193fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 597352	NM_005529.7(HSPG2):c.12559G>A (p.Asp4187Asn)	HSPG2 (D4187N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1417082	NM_005529.7(HSPG2):c.12533-7_12533-5del	HSPG2	Deletion (intron variant)	not provided	GUncertain significance
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 2956056	NM_005529.7(HSPG2):c.12533-19A>T	HSPG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212233	NM_005529.7(HSPG2):c.12532+31C>T	HSPG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1561054	NM_005529.7(HSPG2):c.12532+10C>G	HSPG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1702427	NM_005529.7(HSPG2):c.12532+4C>T	HSPG2	Single nucleotide variant (intron variant)	Connective tissue disorder	GUncertain significance
Select item 3015774	NM_005529.7(HSPG2):c.12528A>G (p.Gln4176=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2432639	NM_005529.7(HSPG2):c.12521G>A (p.Arg4174His)	HSPG2 (R4174H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585982	NM_005529.7(HSPG2):c.12520C>T (p.Arg4174Cys)	HSPG2 (R4174C +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 1324554	NM_005529.7(HSPG2):c.12503del (p.Pro4168fs)	HSPG2 (P4168fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2777255	NM_005529.7(HSPG2):c.12498C>T (p.Cys4166=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1291813	NM_005529.7(HSPG2):c.12487C>T (p.Arg4163Cys)	HSPG2 (R4163C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2797130	NM_005529.7(HSPG2):c.12478C>T (p.Gln4160Ter)	HSPG2 (Q4160* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1947855	NM_005529.7(HSPG2):c.12471C>A (p.Gly4157=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984296	NM_005529.7(HSPG2):c.12455C>T (p.Pro4152Leu)	HSPG2 (P4152L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1363809	NM_005529.7(HSPG2):c.12449G>A (p.Arg4150His)	HSPG2 (R4150H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1439437	NM_005529.7(HSPG2):c.12436C>T (p.Pro4146Ser)	HSPG2 (P4146S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 931556	NM_005529.7(HSPG2):c.12427G>A (p.Glu4143Lys)	HSPG2 (E4144K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1136343	NM_005529.7(HSPG2):c.12426C>T (p.His4142=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020023	NM_005529.7(HSPG2):c.12414C>T (p.Asp4138=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2190769	NM_005529.7(HSPG2):c.12412G>A (p.Asp4138Asn)	HSPG2 (D4139N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1204241	NM_005529.7(HSPG2):c.12409+51G>A	HSPG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 585981	NM_005529.7(HSPG2):c.12409+10C>A	HSPG2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1471176	NM_005529.7(HSPG2):c.12395G>A (p.Arg4132Gln)	HSPG2 (R4132Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1879079	NM_005529.7(HSPG2):c.12393T>A (p.Cys4131Ter)	HSPG2 (C4131* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 284849	NM_005529.7(HSPG2):c.12373T>C (p.Tyr4125His)	HSPG2 (Y4125H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432607	NM_005529.7(HSPG2):c.12370G>A (p.Glu4124Lys)	HSPG2 (E4124K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1344987	NM_005529.7(HSPG2):c.12364G>A (p.Ala4122Thr)	HSPG2 (A4122T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1061642	NM_005529.7(HSPG2):c.12364G>C (p.Ala4122Pro)	HSPG2 (A4122P +1 more)	Single nucleotide variant (missense variant)	not provided	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 1673635	NM_005529.7(HSPG2):c.12354G>A (p.Thr4118=)	HSPG2	Single nucleotide variant (synonymous variant)	HSPG2-related disorder +1 more	GBenign/Likely benign
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 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 2814918	NM_005529.7(HSPG2):c.12337dup (p.Cys4113fs)	HSPG2 (C4113fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1057065	NM_005529.7(HSPG2):c.12329G>A (p.Arg4110His)	HSPG2 (R4110H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585980	NM_005529.7(HSPG2):c.12328C>T (p.Arg4110Cys)	HSPG2 (R4110C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788688	NM_005529.7(HSPG2):c.12315C>T (p.Ser4105=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1521352	NM_005529.7(HSPG2):c.12298G>A (p.Gly4100Arg)	HSPG2 (G4101R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2804155	NM_005529.7(HSPG2):c.12297C>T (p.Ile4099=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1920038	NM_005529.7(HSPG2):c.12282A>G (p.Leu4094=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2046469	NM_005529.7(HSPG2):c.12279C>T (p.Phe4093=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2501904	NM_005529.7(HSPG2):c.12269C>A (p.Thr4090Asn)	HSPG2 (T4090N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1471844	NM_005529.7(HSPG2):c.12265C>A (p.Leu4089Ile)	HSPG2 (L4089I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585979	NM_005529.7(HSPG2):c.12257G>A (p.Arg4086Gln)	HSPG2 (R4086Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1629445	NM_005529.7(HSPG2):c.12238-18G>A	HSPG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267772	NM_005529.7(HSPG2):c.12238-68C>T	HSPG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236794	NM_005529.7(HSPG2):c.12238-165G>T	HSPG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1606620	NM_005529.7(HSPG2):c.12237+20G>A	HSPG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910345	NM_005529.7(HSPG2):c.12237+18G>A	HSPG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2362609	NM_005529.7(HSPG2):c.12229G>A (p.Val4077Met)	HSPG2 (V4078M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1390279	NM_005529.7(HSPG2):c.12223G>A (p.Gly4075Ser)	HSPG2 (G4076S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 740413	NM_005529.7(HSPG2):c.12222C>T (p.Arg4074=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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)	not provided +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 2270896	NM_005529.7(HSPG2):c.12211G>T (p.Ala4071Ser)	HSPG2 (A4071S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1388675	NM_005529.7(HSPG2):c.12211G>A (p.Ala4071Thr)	HSPG2 (A4072T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1714341	NM_005529.7(HSPG2):c.12210C>G (p.Ser4070Arg)	HSPG2 (S4070R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1081703	NM_005529.7(HSPG2):c.12210C>T (p.Ser4070=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1974640	NM_005529.7(HSPG2):c.12205A>G (p.Met4069Val)	HSPG2 (M4069V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596005	NM_005529.7(HSPG2):c.12195G>A (p.Pro4065=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2432635	NM_005529.7(HSPG2):c.12194C>T (p.Pro4065Leu)	HSPG2 (P4065L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1550216	NM_005529.7(HSPG2):c.12187C>T (p.Leu4063=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769944	NM_005529.7(HSPG2):c.12181G>C (p.Val4061Leu)	HSPG2 (V4061L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1362191	NM_005529.7(HSPG2):c.12181G>A (p.Val4061Met)	HSPG2 (V4061M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2432555	NM_005529.7(HSPG2):c.12166G>T (p.Gly4056Cys)	HSPG2 (G4056C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1467687	NM_005529.7(HSPG2):c.12163G>A (p.Gly4055Arg)	HSPG2 (G4055R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1436489	NM_005529.7(HSPG2):c.12149C>T (p.Thr4050Ile)	HSPG2 (T4050I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1990981	NM_005529.7(HSPG2):c.12144G>A (p.Leu4048=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 447537	NM_005529.7(HSPG2):c.12121G>A (p.Gly4041Ser)	HSPG2 (G4041S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1635047	NM_005529.7(HSPG2):c.12120C>T (p.Pro4040=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1586393	NM_005529.7(HSPG2):c.12117G>A (p.Ser4039=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1409399	NM_005529.7(HSPG2):c.12116C>T (p.Ser4039Leu)	HSPG2 (S4040L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 876568	NM_005529.7(HSPG2):c.12110G>T (p.Arg4037Leu)	HSPG2 (R4038L +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1979195	NM_005529.7(HSPG2):c.12103G>A (p.Val4035Met)	HSPG2 (V4035M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2415766	NM_005529.7(HSPG2):c.12097C>T (p.Arg4033Cys)	HSPG2 (R4033C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1057535	NM_005529.7(HSPG2):c.12083G>A (p.Arg4028Gln)	HSPG2 (R4028Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 999821	NM_005529.7(HSPG2):c.12082C>T (p.Arg4028Trp)	HSPG2 (R4028W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1492682	NM_005529.7(HSPG2):c.12073G>A (p.Gly4025Ser)	HSPG2 (G4026S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 295709	NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=)	HSPG2	Single nucleotide variant (synonymous variant)	Schwartz-Jampel syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2432544	NM_005529.7(HSPG2):c.12058C>T (p.Arg4020Cys)	HSPG2 (R4020C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2200157	NM_005529.7(HSPG2):c.12044G>A (p.Arg4015His)	HSPG2 (R4016H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1899597	NM_005529.7(HSPG2):c.12043C>T (p.Arg4015Cys)	HSPG2 (R4015C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2218727	NM_005529.7(HSPG2):c.12040C>T (p.His4014Tyr)	HSPG2 (H4014Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1635641	NM_005529.7(HSPG2):c.12021G>A (p.Pro4007=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1429741	NM_005529.7(HSPG2):c.12020C>T (p.Pro4007Leu)	HSPG2 (P4007L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3037596	NM_005529.7(HSPG2):c.12015C>T (p.Ala4005=)	HSPG2	Single nucleotide variant (synonymous variant)	HSPG2-related disorder	GLikely benign

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