ClinVar for Gene (Select 3339) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3571945	NM_005529.7(HSPG2):c.7331C>T (p.Ser2444Leu)	HSPG2 (S2444L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3571917	NM_005529.7(HSPG2):c.12013G>A (p.Ala4005Thr)	HSPG2 (A4005T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3571868	NM_005529.7(HSPG2):c.11713G>A (p.Gly3905Ser)	HSPG2 (G3905S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3571860	NM_005529.7(HSPG2):c.1504C>T (p.Arg502Ter)	HSPG2 (R502*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3571827	NM_005529.7(HSPG2):c.8468C>G (p.Pro2823Arg)	HSPG2 (P2824R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3571826	NM_005529.7(HSPG2):c.10984G>T (p.Val3662Leu)	HSPG2 (V3662L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3571818	NM_005529.7(HSPG2):c.10782C>A (p.Phe3594Leu)	HSPG2 (F3595L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3571749	NM_005529.7(HSPG2):c.3840_3857del (p.Gly1281_Gln1286del)	HSPG2	Deletion	not provided	GUncertain significance
Select item 3571622	NM_005529.7(HSPG2):c.1955C>G (p.Thr652Ser)	HSPG2 (T652S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3527046	NM_005529.7(HSPG2):c.7681G>A (p.Ala2561Thr)	HSPG2 (A2562T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527045	NM_005529.7(HSPG2):c.9634C>A (p.Pro3212Thr)	HSPG2 (P3212T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527044	NM_005529.7(HSPG2):c.2407G>A (p.Ala803Thr)	HSPG2 (A803T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527043	NM_005529.7(HSPG2):c.11147T>C (p.Leu3716Pro)	HSPG2 (L3717P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527042	NM_005529.7(HSPG2):c.4685T>A (p.Leu1562Gln)	HSPG2 (L1563Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527041	NM_005529.7(HSPG2):c.8059T>C (p.Ser2687Pro)	HSPG2 (S2687P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527040	NM_005529.7(HSPG2):c.10948G>T (p.Val3650Phe)	HSPG2 (V3650F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527039	NM_005529.7(HSPG2):c.9124A>C (p.Lys3042Gln)	HSPG2 (K3042Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527038	NM_005529.7(HSPG2):c.9908C>A (p.Thr3303Lys)	HSPG2 (T3303K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527037	NM_005529.7(HSPG2):c.3761A>G (p.Tyr1254Cys)	HSPG2 (Y1254C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527036	NM_005529.7(HSPG2):c.274C>T (p.Arg92Cys)	HSPG2 (R92C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527035	NM_005529.7(HSPG2):c.10714G>C (p.Val3572Leu)	HSPG2 (V3573L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527033	NM_005529.7(HSPG2):c.7916C>A (p.Pro2639His)	HSPG2 (P2639H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527032	NM_005529.7(HSPG2):c.6568G>T (p.Gly2190Cys)	HSPG2, LOC126805655 (G2191C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527031	NM_005529.7(HSPG2):c.1604G>A (p.Arg535His)	HSPG2 (R536H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527030	NM_005529.7(HSPG2):c.10853A>T (p.Asp3618Val)	HSPG2 (D3618V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527029	NM_005529.7(HSPG2):c.9386C>A (p.Ala3129Asp)	HSPG2 (A3129D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3527028	NM_005529.7(HSPG2):c.1310T>G (p.Ile437Ser)	HSPG2 (I437S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527027	NM_005529.7(HSPG2):c.2089G>A (p.Val697Met)	HSPG2 (V697M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527025	NM_005529.7(HSPG2):c.1942G>A (p.Gly648Ser)	HSPG2 (G648S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527024	NM_005529.7(HSPG2):c.8128G>T (p.Val2710Phe)	HSPG2 (V2711F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527023	NM_005529.7(HSPG2):c.8036C>T (p.Ser2679Phe)	HSPG2 (S2679F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527022	NM_005529.7(HSPG2):c.1676C>A (p.Ala559Glu)	HSPG2 (A560E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527021	NM_005529.7(HSPG2):c.11792C>T (p.Ser3931Leu)	HSPG2 (S3931L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527020	NM_005529.7(HSPG2):c.101T>C (p.Leu34Pro)	HSPG2 (L34P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527019	NM_005529.7(HSPG2):c.53G>C (p.Arg18Pro)	HSPG2 (R18P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527018	NM_005529.7(HSPG2):c.11731C>T (p.Arg3911Cys)	HSPG2 (R3911C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527017	NM_005529.7(HSPG2):c.582G>C (p.Gln194His)	HSPG2 (Q194H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527016	NM_005529.7(HSPG2):c.10126G>T (p.Ala3376Ser)	HSPG2 (A3377S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527015	NM_005529.7(HSPG2):c.1318T>G (p.Trp440Gly)	HSPG2 (W440G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527014	NM_005529.7(HSPG2):c.11189G>C (p.Gly3730Ala)	HSPG2 (G3730A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527013	NM_005529.7(HSPG2):c.1381C>T (p.Arg461Cys)	HSPG2 (R461C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527012	NM_005529.7(HSPG2):c.2935T>C (p.Ser979Pro)	HSPG2 (S980P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527011	NM_005529.7(HSPG2):c.5353C>T (p.Pro1785Ser)	HSPG2 (P1785S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527010	NM_005529.7(HSPG2):c.10406A>G (p.His3469Arg)	HSPG2 (H3470R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527009	NM_005529.7(HSPG2):c.4022G>C (p.Arg1341Pro)	HSPG2 (R1341P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527008	NM_005529.7(HSPG2):c.8240A>G (p.Asn2747Ser)	HSPG2 (N2748S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527007	NM_005529.7(HSPG2):c.8713T>A (p.Ser2905Thr)	HSPG2 (S2905T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527006	NM_005529.7(HSPG2):c.11587G>C (p.Glu3863Gln)	HSPG2 (E3864Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527005	NM_005529.7(HSPG2):c.532G>A (p.Val178Ile)	HSPG2 (V178I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3527004	NM_005529.7(HSPG2):c.8975G>A (p.Arg2992His)	HSPG2 (R2992H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527003	NM_005529.7(HSPG2):c.13112C>T (p.Pro4371Leu)	HSPG2, LDLRAD2 (P4372L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3527002	NM_005529.7(HSPG2):c.11390A>G (p.Tyr3797Cys)	HSPG2 (Y3797C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3527001	NM_005529.7(HSPG2):c.5860G>A (p.Gly1954Ser)	HSPG2 (G1954S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3527000	NM_005529.7(HSPG2):c.7310C>T (p.Pro2437Leu)	HSPG2 (P2437L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3526999	NM_005529.7(HSPG2):c.7349A>T (p.Glu2450Val)	HSPG2 (E2451V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3526998	NM_005529.7(HSPG2):c.9067G>C (p.Val3023Leu)	HSPG2 (V3023L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3526997	NM_005529.7(HSPG2):c.8884G>A (p.Gly2962Arg)	HSPG2 (G2962R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3526995	NM_005529.7(HSPG2):c.8128G>A (p.Val2710Ile)	HSPG2 (V2711I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3526994	NM_005529.7(HSPG2):c.2095A>G (p.Asn699Asp)	HSPG2 (N700D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3526993	NM_005529.7(HSPG2):c.8104A>G (p.Ile2702Val)	HSPG2 (I2702V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3526992	NM_005529.7(HSPG2):c.10856G>C (p.Ser3619Thr)	HSPG2 (S3619T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3393677	NM_005529.7(HSPG2):c.8603C>T (p.Pro2868Leu)	HSPG2 (P2868L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3391510	NM_005529.7(HSPG2):c.12920T>C (p.Ile4307Thr)	HSPG2, LDLRAD2 (I4307T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3390645	NM_005529.7(HSPG2):c.7496G>A (p.Gly2499Glu)	HSPG2 (G2499E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3388896	NM_005529.7(HSPG2):c.3405G>A (p.Pro1135=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3383554	NM_005529.7(HSPG2):c.2303G>A (p.Gly768Asp)	HSPG2 (G768D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3383444	NM_005529.7(HSPG2):c.11471G>A (p.Arg3824His)	HSPG2 (R3824H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3383327	NM_005529.7(HSPG2):c.10328G>A (p.Gly3443Asp)	HSPG2 (G3443D +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome	GUncertain significance
Select item 3383326	NM_005529.7(HSPG2):c.13126C>G (p.Leu4376Val)	HSPG2, LDLRAD2 (L4376V +1 more)	Single nucleotide variant (missense variant +1 more)	Lethal Kniest-like syndrome	GUncertain significance
Select item 3381885	NM_005529.7(HSPG2):c.8025+1G>A	HSPG2	Single nucleotide variant (splice donor variant)	Schwartz-Jampel syndrome type 1 +1 more	GLikely pathogenic
Select item 3377997	NM_005529.7(HSPG2):c.10516G>A (p.Val3506Met)	HSPG2 (V3506M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3377995	NM_005529.7(HSPG2):c.574+481C>T	HSPG2	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 3376983	NM_005529.7(HSPG2):c.12643C>T (p.Pro4215Ser)	HSPG2, LDLRAD2 (P4215S +1 more)	Single nucleotide variant (missense variant +1 more)	Schwartz-Jampel syndrome type 1	GUncertain significance
Select item 3376981	NM_005529.7(HSPG2):c.3994C>T (p.Gln1332Ter)	HSPG2 (Q1332* +1 more)	Single nucleotide variant (nonsense)	Schwartz-Jampel syndrome type 1	GPathogenic
Select item 3371440	NM_005529.7(HSPG2):c.6157G>A (p.Val2053Ile)	HSPG2 (V2053I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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

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