ClinVar for MedGen (Select 1647990) - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2663848	NM_005529.7(HSPG2):c.1030T>C (p.Cys344Arg)	HSPG2 (C344R)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome type 1	GLikely pathogenic
Select item 2627153	NM_005529.7(HSPG2):c.12900-2A>G	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	Schwartz-Jampel syndrome type 1	GLikely pathogenic
Select item 2585371	NM_005529.7(HSPG2):c.4129C>T (p.Pro1377Ser)	HSPG2 (P1378S +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome type 1	GUncertain significance
Select item 2573053	NM_005529.7(HSPG2):c.11563-16G>A	HSPG2	Single nucleotide variant (intron variant)	Schwartz-Jampel syndrome type 1	GUncertain significance
Select item 2506375	NM_005529.7(HSPG2):c.5296G>A (p.Ala1766Thr)	HSPG2 (A1766T +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome type 1	GLikely pathogenic
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 2444351	NM_005529.7(HSPG2):c.9826T>C (p.Tyr3276His)	HSPG2 (Y3276H +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome type 1	GUncertain significance
Select item 2444121	NM_005529.7(HSPG2):c.1219del (p.Gln407fs)	HSPG2 (Q407fs)	Deletion (frameshift variant)	Schwartz-Jampel syndrome type 1	GLikely pathogenic
Select item 1701784	NM_005529.7(HSPG2):c.5174G>A (p.Arg1725Gln)	HSPG2 (R1725Q +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome type 1 +1 more	GUncertain significance
Select item 1687314	NM_005529.7(HSPG2):c.1762C>T (p.Arg588Cys)	HSPG2 (R588C +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome type 1	GUncertain significance
Select item 1683427	NM_005529.7(HSPG2):c.12816-12G>C	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	Schwartz-Jampel syndrome type 1	GUncertain significance
Select item 1683426	NM_005529.7(HSPG2):c.12816-9T>A	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	Schwartz-Jampel syndrome type 1	GUncertain significance
Select item 1683425	NM_005529.7(HSPG2):c.4955+1G>C	HSPG2	Single nucleotide variant (splice donor variant)	Schwartz-Jampel syndrome type 1	GLikely pathogenic
Select item 1678632	NM_005529.7(HSPG2):c.9284A>G (p.Asn3095Ser)	HSPG2 (N3095S +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome type 1 +1 more	GUncertain significance
Select item 1503559	NM_005529.7(HSPG2):c.9900_9902dup (p.Ala3301dup)	HSPG2	Duplication (inframe_insertion)	Lethal Kniest-like syndrome +2 more	GUncertain significance
Select item 1497738	NM_005529.7(HSPG2):c.11185G>A (p.Val3729Met)	HSPG2 (V3730M +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome type 1 +2 more	GUncertain significance
Select item 1474534	NM_005529.7(HSPG2):c.6871-10G>A	HSPG2, LOC126805655	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 1444590	NM_005529.7(HSPG2):c.5273G>A (p.Arg1758Gln)	HSPG2 (R1758Q +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1400608	NM_005529.7(HSPG2):c.6161A>G (p.Lys2054Arg)	HSPG2 (K2054R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1350314	NM_005529.7(HSPG2):c.7198G>A (p.Ala2400Thr)	HSPG2 (A2401T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1348182	NM_005529.7(HSPG2):c.916G>A (p.Gly306Arg)	HSPG2 (G306R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1330931	NM_005529.7(HSPG2):c.3657-16C>G	HSPG2	Single nucleotide variant (intron variant)	Schwartz-Jampel syndrome type 1 +2 more	GBenign/Likely benign
Select item 1303184	NM_005529.7(HSPG2):c.1903G>A (p.Val635Met)	HSPG2 (V635M +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +3 more	GUncertain significance
Select item 1267614	NM_005529.7(HSPG2):c.1818+15_1818+27del	HSPG2	Deletion (intron variant)	Lethal Kniest-like syndrome +2 more	GBenign
Select item 1051273	NM_005529.7(HSPG2):c.11751G>A (p.Ser3917=)	HSPG2	Single nucleotide variant (synonymous variant)	Lethal Kniest-like syndrome +2 more	GUncertain significance
Select item 1041950	NM_005529.7(HSPG2):c.4972G>A (p.Val1658Met)	HSPG2 (V1658M +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +3 more	GUncertain significance
Select item 1018185	NM_005529.7(HSPG2):c.5998-5G>A	HSPG2	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 995380	NM_005529.7(HSPG2):c.1844G>A (p.Arg615His)	HSPG2 (R615H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 982057	NM_005529.7(HSPG2):c.9970G>A (p.Gly3324Arg)	HSPG2 (G3324R +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +3 more	GLikely pathogenic
Select item 876667	NM_005529.7(HSPG2):c.11077C>T (p.Arg3693Trp)	HSPG2 (R3693W +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome type 1 +3 more	GUncertain significance
Select item 875251	NM_005529.7(HSPG2):c.6842G>A (p.Arg2281His)	HSPG2, LOC126805655 (R2281H +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome type 1 +3 more	GUncertain significance
Select item 842464	NM_005529.7(HSPG2):c.2747G>A (p.Arg916Gln)	HSPG2 (R917Q +1 more)	Single nucleotide variant (missense variant)	not provided +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)	Inborn genetic diseases +3 more	GUncertain significance
Select item 772678	NM_005529.7(HSPG2):c.1167C>T (p.Asp389=)	HSPG2	Single nucleotide variant (synonymous variant)	Lethal Kniest-like syndrome +4 more	GBenign/Likely benign
Select item 722168	NM_005529.7(HSPG2):c.10025G>A (p.Arg3342Lys)	HSPG2 (R3342K +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome type 1 +1 more	GConflicting classifications of pathogenicity
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 594359	NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu)	HSPG2 (V3955L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 585984	NM_005529.7(HSPG2):c.1585G>A (p.Val529Met)	HSPG2 (V529M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 499769	NM_005529.7(HSPG2):c.11208-7G>A	HSPG2	Single nucleotide variant (intron variant)	Schwartz-Jampel syndrome +2 more	GConflicting classifications of pathogenicity
Select item 447552	NM_005529.7(HSPG2):c.4391G>A (p.Arg1464Gln)	HSPG2 (R1464Q +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +4 more	GUncertain significance
Select item 295908	NM_005529.7(HSPG2):c.758C>G (p.Ser253Cys)	HSPG2 (S253C)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 295906	NM_005529.7(HSPG2):c.825G>A (p.Leu275=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 295885	NM_005529.7(HSPG2):c.2023C>T (p.Arg675Trp)	HSPG2 (R675W +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 295863	NM_005529.7(HSPG2):c.3360G>A (p.Ala1120=)	HSPG2	Single nucleotide variant (synonymous variant)	Lethal Kniest-like syndrome +3 more	GBenign
Select item 295856	NM_005529.7(HSPG2):c.3688G>A (p.Gly1230Ser)	HSPG2 (G1230S +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome type 1 +3 more	GBenign
Select item 295855	NM_005529.7(HSPG2):c.3708G>A (p.Ala1236=)	HSPG2	Single nucleotide variant (synonymous variant)	Schwartz-Jampel syndrome +4 more	GBenign/Likely benign
Select item 295836	NM_005529.7(HSPG2):c.4903G>A (p.Gly1635Arg)	HSPG2 (G1635R +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +3 more	GUncertain significance
Select item 295827	NM_005529.7(HSPG2):c.5742C>T (p.His1914=)	HSPG2	Single nucleotide variant (synonymous variant)	Schwartz-Jampel syndrome +4 more	GBenign/Likely benign
Select item 295802	NM_005529.7(HSPG2):c.6966G>T (p.Thr2322=)	HSPG2	Single nucleotide variant (synonymous variant)	Schwartz-Jampel syndrome +2 more	GConflicting classifications of pathogenicity
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 295759	NM_005529.7(HSPG2):c.9476G>A (p.Arg3159Gln)	HSPG2 (R3159Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 295747	NM_005529.7(HSPG2):c.10061G>A (p.Arg3354His)	HSPG2 (R3354H +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome type 1 +3 more	GUncertain significance
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 295706	NM_005529.7(HSPG2):c.12353C>T (p.Thr4118Met)	HSPG2 (T4118M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 265454	NM_005529.7(HSPG2):c.7006+1G>A	HSPG2	Single nucleotide variant (splice donor variant)	Schwartz-Jampel syndrome type 1 +2 more	GPathogenic/Likely pathogenic
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 198669	NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met)	HSPG2 (V3500M +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GBenign/Likely benign
Select item 197547	NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys)	HSPG2 (R1919C +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GBenign/Likely benign
Select item 14926	NC_000001.11:g.21816592_21823699del	HSPG2, LDLRAD2	Deletion (splice acceptor variant +1 more)	Schwartz-Jampel syndrome type 1	GPathogenic
Select item 14925	NM_005529.7(HSPG2):c.8759-3_8764del	HSPG2	Deletion (splice acceptor variant)	Schwartz-Jampel syndrome type 1	GPathogenic
Select item 14924	NM_005529.7(HSPG2):c.8464G>A (p.Ala2822Thr)	HSPG2 (A2822T +1 more)	Single nucleotide variant	Schwartz-Jampel syndrome type 1	GPathogenic
Select item 14923	HSPG2, EX60/61 FUSION	HSPG2	Variation	Schwartz-Jampel syndrome type 1	GPathogenic
Select item 14922	NM_005529.7(HSPG2):c.7294+4A>G	HSPG2	Single nucleotide variant (intron variant)	Schwartz-Jampel syndrome type 1	GPathogenic
Select item 14918	NM_005529.7(HSPG2):c.4595G>A (p.Cys1532Tyr)	HSPG2 (C1532Y +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome type 1	GPathogenic
Select item 14917	NM_005529.7(HSPG2):c.8464+4A>G	HSPG2	Single nucleotide variant (intron variant)	Schwartz-Jampel syndrome type 1	GPathogenic

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Items: 67