Related gene-specific medical variations for Gene (Select 3339) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3021078	NM_005529.7(HSPG2):c.6519C>T (p.Cys2173=)	HSPG2, LOC126805655	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009065	NM_001013693.3(LDLRAD2):c.*2415C>T	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3003013	NM_005529.7(HSPG2):c.12936G>A (p.Glu4312=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2996948	NM_005529.7(HSPG2):c.12882C>T (p.His4294=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2988473	NM_005529.7(HSPG2):c.6591+15C>T	HSPG2, LOC126805655	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976880	NM_001013693.3(LDLRAD2):c.*2084G>A	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2968868	NM_005529.7(HSPG2):c.12993C>T (p.Ser4331=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2961723	NM_001013693.3(LDLRAD2):c.*1382G>A	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2955108	NM_005529.7(HSPG2):c.6759C>T (p.Ser2253=)	HSPG2, LOC126805655	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913411	NM_005529.7(HSPG2):c.6822C>G (p.Ala2274=)	HSPG2, LOC126805655	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905452	NM_005529.7(HSPG2):c.12681C>T (p.Pro4227=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2896392	NM_005529.7(HSPG2):c.12981C>T (p.Asn4327=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2892823	NM_005529.7(HSPG2):c.13149G>A (p.Gly4383=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2881525	NM_005529.7(HSPG2):c.12963T>A (p.Gly4321=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2879532	NM_005529.7(HSPG2):c.12723C>T (p.Gly4241=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2864915	NM_001013693.3(LDLRAD2):c.*1889C>G	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2842310	NM_005529.7(HSPG2):c.6748G>T (p.Glu2250Ter)	HSPG2, LOC126805655 (E2250* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2802150	NM_005529.7(HSPG2):c.6440-13G>A	HSPG2, LOC126805655	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798648	NM_001013693.3(LDLRAD2):c.*1511T>C	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2784438	NM_005529.7(HSPG2):c.13075C>T (p.Leu4359=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2777321	NM_001013693.3(LDLRAD2):c.*2079G>A	HSPG2, LDLRAD2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2770000	NM_005529.7(HSPG2):c.12840C>T (p.Ala4280=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2716040	NM_005529.7(HSPG2):c.13017C>T (p.Asp4339=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2705737	NM_005529.7(HSPG2):c.12870C>T (p.Asp4290=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2694366	NM_005529.7(HSPG2):c.12912A>G (p.Arg4304=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2690624	NM_005529.7(HSPG2):c.1507+1G>A	HSPG2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2684228	NM_005529.7(HSPG2):c.9364G>A (p.Val3122Met)	HSPG2 (V3122M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684227	NM_005529.7(HSPG2):c.8500TCC[2] (p.Ser2836del)	HSPG2 (S2836del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2684226	NM_005529.7(HSPG2):c.8077G>A (p.Glu2693Lys)	HSPG2 (E2693K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684225	NM_005529.7(HSPG2):c.7874-2A>G	HSPG2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2684224	NM_005529.7(HSPG2):c.6871-7T>C	HSPG2, LOC126805655	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2684223	NM_005529.7(HSPG2):c.5854+5G>A	HSPG2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2684222	NM_005529.7(HSPG2):c.4672G>A (p.Gly1558Ser)	HSPG2 (G1558S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684221	NM_005529.7(HSPG2):c.2339G>A (p.Cys780Tyr)	HSPG2 (C780Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672328	NM_005529.7(HSPG2):c.13146C>T (p.Ala4382=)	HSPG2, LDLRAD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
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 2638459	NM_005529.7(HSPG2):c.6441G>A (p.Val2147=)	HSPG2, LOC126805655	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638452	NM_001013693.3(LDLRAD2):c.*1394G>A	HSPG2, LDLRAD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 2614133	NM_005529.7(HSPG2):c.12898C>T (p.Arg4300Trp)	HSPG2, LDLRAD2 (R4300W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2560115	NM_005529.7(HSPG2):c.6463C>T (p.Arg2155Cys)	HSPG2, LOC126805655 (R2155C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2474040	NM_005529.7(HSPG2):c.12928G>C (p.Asp4310His)	HSPG2, LDLRAD2 (D4311H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469441	NM_005529.7(HSPG2):c.6584G>A (p.Arg2195Gln)	HSPG2, LOC126805655 (R2195Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460289	NM_005529.7(HSPG2):c.6839A>T (p.Lys2280Met)	HSPG2, LOC126805655 (K2281M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455147	NM_005529.7(HSPG2):c.12953G>A (p.Arg4318Gln)	HSPG2, LDLRAD2 (R4318Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2440802	NM_005529.7(HSPG2):c.7874-1G>T	HSPG2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2432657	NM_005529.7(HSPG2):c.514G>A (p.Gly172Ser)	HSPG2 (G172S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432656	NM_005529.7(HSPG2):c.12989G>A (p.Gly4330Asp)	HSPG2, LDLRAD2 (G4330D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2432655	NM_005529.7(HSPG2):c.353C>T (p.Thr118Met)	HSPG2 (T118M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432654	NM_005529.7(HSPG2):c.8449G>T (p.Ala2817Ser)	HSPG2 (A2817S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432652	NM_005529.7(HSPG2):c.11606G>A (p.Cys3869Tyr)	HSPG2 (C3869Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432651	NM_005529.7(HSPG2):c.2654T>C (p.Met885Thr)	HSPG2 (M885T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432650	NM_005529.7(HSPG2):c.677G>A (p.Arg226Lys)	HSPG2 (R226K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432649	NM_005529.7(HSPG2):c.2095A>C (p.Asn699His)	HSPG2 (N699H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432648	NM_005529.7(HSPG2):c.4378G>A (p.Glu1460Lys)	HSPG2 (E1460K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432646	NM_005529.7(HSPG2):c.2176C>T (p.His726Tyr)	HSPG2 (H726Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432645	NM_005529.7(HSPG2):c.10091G>A (p.Arg3364His)	HSPG2 (R3364H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432644	NM_005529.7(HSPG2):c.11552G>C (p.Arg3851Pro)	HSPG2 (R3851P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432643	NM_005529.7(HSPG2):c.11401T>A (p.Tyr3801Asn)	HSPG2 (Y3801N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432642	NM_005529.7(HSPG2):c.2757T>A (p.Asp919Glu)	HSPG2 (D919E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432641	NM_005529.7(HSPG2):c.8241C>G (p.Asn2747Lys)	HSPG2 (N2747K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432640	NM_005529.7(HSPG2):c.12805C>A (p.Leu4269Ile)	HSPG2, LDLRAD2 (L4269I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2432637	NM_005529.7(HSPG2):c.4283G>A (p.Ser1428Asn)	HSPG2 (S1428N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432636	NM_005529.7(HSPG2):c.6831A>G (p.Thr2277=)	HSPG2, LOC126805655	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 2432634	NM_005529.7(HSPG2):c.9097G>A (p.Val3033Met)	HSPG2 (V3033M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432632	NM_005529.7(HSPG2):c.10042G>A (p.Glu3348Lys)	HSPG2 (E3348K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432630	NM_005529.7(HSPG2):c.4740G>A (p.Ser1580=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2432629	NM_005529.7(HSPG2):c.560G>A (p.Arg187Gln)	HSPG2 (R187Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432628	NM_005529.7(HSPG2):c.3748G>A (p.Ala1250Thr)	HSPG2 (A1250T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432627	NM_005529.7(HSPG2):c.797C>T (p.Pro266Leu)	HSPG2 (P266L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432626	NM_005529.7(HSPG2):c.3451C>T (p.Leu1151Phe)	HSPG2 (L1151F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432625	NM_005529.7(HSPG2):c.6892A>C (p.Ile2298Leu)	HSPG2 (I2298L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432624	NM_005529.7(HSPG2):c.7439G>A (p.Arg2480Gln)	HSPG2 (R2480Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432623	NM_005529.7(HSPG2):c.7324G>A (p.Glu2442Lys)	HSPG2 (E2442K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432622	NM_005529.7(HSPG2):c.2072C>A (p.Ala691Asp)	HSPG2 (A691D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432621	NM_005529.7(HSPG2):c.4498G>A (p.Val1500Met)	HSPG2 (V1500M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432620	NM_005529.7(HSPG2):c.5917G>T (p.Val1973Phe)	HSPG2 (V1973F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432618	NM_005529.7(HSPG2):c.12967A>T (p.Asn4323Tyr)	HSPG2, LDLRAD2 (N4323Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2432617	NM_005529.7(HSPG2):c.7504G>A (p.Val2502Met)	HSPG2 (V2502M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432616	NM_005529.7(HSPG2):c.8463C>T (p.Pro2821=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2432615	NM_005529.7(HSPG2):c.7420G>C (p.Gly2474Arg)	HSPG2 (G2474R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432614	NM_005529.7(HSPG2):c.1007A>C (p.His336Pro)	HSPG2 (H336P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432612	NM_005529.7(HSPG2):c.11908G>C (p.Gly3970Arg)	HSPG2 (G3970R +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 2432606	NM_005529.7(HSPG2):c.2343+3G>A	HSPG2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2432605	NM_005529.7(HSPG2):c.5857G>A (p.Gly1953Ser)	HSPG2 (G1953S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432604	NM_005529.7(HSPG2):c.10594G>A (p.Gly3532Ser)	HSPG2 (G3532S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432601	NM_005529.7(HSPG2):c.6763A>G (p.Thr2255Ala)	HSPG2, LOC126805655 (T2255A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432600	NM_005529.7(HSPG2):c.13094G>T (p.Arg4365Leu)	HSPG2, LDLRAD2 (R4365L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2432599	NM_005529.7(HSPG2):c.6277C>T (p.Pro2093Ser)	HSPG2 (P2093S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432597	NM_005529.7(HSPG2):c.2251C>G (p.Arg751Gly)	HSPG2 (R751G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432596	NM_005529.7(HSPG2):c.11429C>T (p.Ala3810Val)	HSPG2 (A3810V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432595	NM_005529.7(HSPG2):c.2599G>A (p.Gly867Arg)	HSPG2 (G867R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432594	NM_005529.7(HSPG2):c.10896A>C (p.Arg3632=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2432593	NM_005529.7(HSPG2):c.4360C>T (p.Pro1454Ser)	HSPG2 (P1454S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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