"GeneDx"[submitter] AND "HSPG2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
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 295695	NM_005529.7(HSPG2):c.13050A>G (p.Ser4350=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	Lethal Kniest-like syndrome +2 more	GBenign
Select item 447542	NM_005529.7(HSPG2):c.13033G>A (p.Gly4345Arg)	HSPG2, LDLRAD2 (G4345R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 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 295699	NM_005529.7(HSPG2):c.12994G>A (p.Val4332Ile)	HSPG2, LDLRAD2 (V4332I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +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)	not provided +2 more	GBenign
Select item 295701	NM_005529.7(HSPG2):c.12952C>A (p.Arg4318=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	Lethal Kniest-like syndrome +2 more	GBenign
Select item 804894	NM_005529.7(HSPG2):c.12929A>C (p.Asp4310Ala)	HSPG2, LDLRAD2 (D4310A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1225015	NM_005529.7(HSPG2):c.12900-45G>A	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
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 +2 more	GConflicting classifications of pathogenicity
Select item 199235	NM_005529.7(HSPG2):c.12842G>A (p.Arg4281His)	HSPG2, LDLRAD2 (R4281H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1222947	NM_005529.7(HSPG2):c.12815+23T>C	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1251910	NM_005529.7(HSPG2):c.12815+21C>G	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
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 provided +4 more	GBenign/Likely benign
Select item 735499	NM_005529.7(HSPG2):c.12798C>T (p.Asp4266=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 447540	NM_005529.7(HSPG2):c.12607G>A (p.Gly4203Arg)	HSPG2, LDLRAD2 (G4203R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	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 295705	NM_005529.7(HSPG2):c.12558C>T (p.Ser4186=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1212233	NM_005529.7(HSPG2):c.12532+31C>T	HSPG2	Single nucleotide variant (intron 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 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 1204241	NM_005529.7(HSPG2):c.12409+51G>A	HSPG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1344987	NM_005529.7(HSPG2):c.12364G>A (p.Ala4122Thr)	HSPG2 (A4122T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 295707	NM_005529.7(HSPG2):c.12312T>C (p.Asp4104=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 875571	NM_005529.7(HSPG2):c.12256C>T (p.Arg4086Trp)	HSPG2 (R4087W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 447539	NM_005529.7(HSPG2):c.12220C>T (p.Arg4074Cys)	HSPG2 (R4074C +1 more)	Single nucleotide variant (missense variant)	not provided +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 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 876568	NM_005529.7(HSPG2):c.12110G>T (p.Arg4037Leu)	HSPG2 (R4038L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 295709	NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=)	HSPG2	Single nucleotide variant (synonymous variant)	Lethal Kniest-like syndrome +2 more	GConflicting classifications of pathogenicity
Select item 727761	NM_005529.7(HSPG2):c.12012C>T (p.Ser4004=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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)	Lethal Kniest-like syndrome +3 more	GBenign/Likely benign
Select item 439796	NM_005529.7(HSPG2):c.11993-151A>G	HSPG2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 618168	NM_005529.7(HSPG2):c.11992+35A>G	HSPG2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 618169	NM_005529.7(HSPG2):c.11992+23G>A	HSPG2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 585978	NM_005529.7(HSPG2):c.11975G>A (p.Arg3992His)	HSPG2 (R3992H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1524777	NM_005529.7(HSPG2):c.11974C>T (p.Arg3992Cys)	HSPG2 (R3993C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 594359	NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu)	HSPG2 (V3955L +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1261858	NM_005529.7(HSPG2):c.11771-64G>A	HSPG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 198963	NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln)	HSPG2 (R3906Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1362508	NM_005529.7(HSPG2):c.11689G>A (p.Ala3897Thr)	HSPG2 (A3897T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 1229461	NM_005529.7(HSPG2):c.11672-143C>T	HSPG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215421	NM_005529.7(HSPG2):c.11672-244T>C	HSPG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271276	NM_005529.7(HSPG2):c.11671+338G>A	HSPG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226627	NM_005529.7(HSPG2):c.11671+270dup	HSPG2	Duplication (intron variant)	not provided	GBenign
Select item 1208754	NM_005529.7(HSPG2):c.11671+270_11671+271dup	HSPG2	Duplication (intron variant)	not provided	GLikely benign
Select item 1269002	NM_005529.7(HSPG2):c.11671+291del	HSPG2	Deletion (intron variant)	not provided	GBenign
Select item 1178410	NM_005529.7(HSPG2):c.11671+110C>G	HSPG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 295713	NM_005529.7(HSPG2):c.11671+15C>T	HSPG2	Single nucleotide variant (intron variant)	Schwartz-Jampel syndrome +2 more	GBenign/Likely benign
Select item 295714	NM_005529.7(HSPG2):c.11671+5G>A	HSPG2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 774793	NM_005529.7(HSPG2):c.11649G>A (p.Ser3883=)	HSPG2	Single nucleotide variant (synonymous variant)	Schwartz-Jampel syndrome +2 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 1312152	NM_005529.7(HSPG2):c.11567G>A (p.Gly3856Asp)	HSPG2 (G3856D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1174648	NM_005529.7(HSPG2):c.11562+19C>T	HSPG2	Single nucleotide variant (intron variant)	Lethal Kniest-like syndrome +2 more	GBenign
Select item 2200492	NM_005529.7(HSPG2):c.11516C>T (p.Ala3839Val)	HSPG2 (A3839V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1315276	NM_005529.7(HSPG2):c.11481C>T (p.Gly3827=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 198958	NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=)	HSPG2	Single nucleotide variant (synonymous variant)	Lethal Kniest-like syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1185941	NM_005529.7(HSPG2):c.11452+40C>A	HSPG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261831	NM_005529.7(HSPG2):c.11352+25C>A	HSPG2	Single nucleotide variant (intron variant)	Schwartz-Jampel syndrome +2 more	GBenign
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 1237413	NM_005529.7(HSPG2):c.11208-74C>T	HSPG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234076	NM_005529.7(HSPG2):c.11207+241GCAT[2]	HSPG2	Microsatellite (intron variant)	not provided	GBenign
Select item 1256648	NM_005529.7(HSPG2):c.11207+244_11207+245insCATT	HSPG2	Insertion (intron variant)	not provided	GBenign
Select item 1246452	NM_005529.7(HSPG2):c.11207+241G>T	HSPG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 295723	NM_005529.7(HSPG2):c.11187G>T (p.Val3729=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 597728	NM_005529.7(HSPG2):c.11169C>T (p.Phe3723=)	HSPG2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1271843	NM_005529.7(HSPG2):c.11095+52C>T	HSPG2	Single nucleotide variant (intron variant)	not provided	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)	not provided +3 more	GUncertain significance
Select item 295725	NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile)	HSPG2 (T3691I +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +3 more	GConflicting classifications of pathogenicity
Select item 198680	NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His)	HSPG2 (R3646H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1305190	NM_005529.7(HSPG2):c.10936C>T (p.Arg3646Cys)	HSPG2 (R3646C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 295726	NM_005529.7(HSPG2):c.10918G>A (p.Val3640Ile)	HSPG2 (V3640I +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome type 1 +4 more	GBenign
Select item 727762	NM_005529.7(HSPG2):c.10917C>T (p.Tyr3639=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 295727	NM_005529.7(HSPG2):c.10895G>A (p.Arg3632Gln)	HSPG2 (R3632Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 295729	NM_005529.7(HSPG2):c.10831-4G>A	HSPG2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1234812	NM_005529.7(HSPG2):c.10831-33A>G	HSPG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223305	NM_005529.7(HSPG2):c.10831-41G>A	HSPG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183702	NM_005529.7(HSPG2):c.10831-91A>T	HSPG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244489	NM_005529.7(HSPG2):c.10721-236A>G	HSPG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287126	NM_005529.7(HSPG2):c.10721-297A>G	HSPG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257676	NM_005529.7(HSPG2):c.10721-305C>T	HSPG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287355	NM_005529.7(HSPG2):c.10720+302G>A	HSPG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288122	NM_005529.7(HSPG2):c.10720+278C>T	HSPG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 446053	NM_005529.7(HSPG2):c.10702G>A (p.Val3568Ile)	HSPG2 (V3568I +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 1110047	NM_005529.7(HSPG2):c.10626C>T (p.Ile3542=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 295733	NM_005529.7(HSPG2):c.10617C>T (p.Val3539=)	HSPG2	Single nucleotide variant (synonymous variant)	Schwartz-Jampel syndrome +2 more	GBenign
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 3377997	NM_005529.7(HSPG2):c.10516G>A (p.Val3506Met)	HSPG2 (V3506M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1236451	NM_005529.7(HSPG2):c.10454-180_10454-177del	HSPG2	Microsatellite (intron variant)	not provided	GBenign

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