ClinVar for MedGen (Select 816175) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 235

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3017918	NM_013352.4(DSE):c.2031C>T (p.His677=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 3003948	NM_013352.4(DSE):c.966A>G (p.Pro322=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2986147	NM_013352.4(DSE):c.447C>T (p.Val149=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2983328	NM_013352.4(DSE):c.1420G>C (p.Gly474Arg)	DSE (G141R +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2965668	NM_013352.4(DSE):c.670+18C>T	DSE	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2920425	NM_013352.4(DSE):c.1752G>A (p.Ala584=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2919702	NM_013352.4(DSE):c.945T>C (p.Asn315=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2907716	NM_013352.4(DSE):c.16C>T (p.Arg6Trp)	DSE (R6W +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2903928	NM_013352.4(DSE):c.1197C>T (p.Val399=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2899334	NM_013352.4(DSE):c.2838A>G (p.Leu946=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2896624	NM_013352.4(DSE):c.192C>T (p.His64=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2894138	NM_013352.4(DSE):c.1608C>T (p.Phe536=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2876174	NM_013352.4(DSE):c.2637G>A (p.Arg879=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2871546	NM_013352.4(DSE):c.910+10G>A	DSE (R307K)	Single nucleotide variant (intron variant +1 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2857240	NM_013352.4(DSE):c.1407T>C (p.Thr469=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2840015	NM_013352.4(DSE):c.264C>G (p.Pro88=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2819068	NM_013352.4(DSE):c.1416G>T (p.Leu472=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2791567	NM_013352.4(DSE):c.21G>C (p.Gly7=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2788107	NM_013352.4(DSE):c.1809T>C (p.His603=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2785619	NM_013352.4(DSE):c.2812G>T (p.Val938Phe)	DSE (V593F +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2772460	NM_013352.4(DSE):c.975A>G (p.Gln325=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GLikely benign
Select item 2769571	NM_013352.4(DSE):c.201T>A (p.Ile67=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2765016	NM_013352.4(DSE):c.1323A>G (p.Lys441=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2750665	NM_013352.4(DSE):c.1612C>G (p.Arg538Gly)	DSE (R351G +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2745714	NM_013352.4(DSE):c.1435T>G (p.Phe479Val)	DSE (F498V +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2742440	NM_013352.4(DSE):c.27C>A (p.Pro9=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2730936	NM_013352.4(DSE):c.2622C>T (p.Gly874=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2724666	NM_013352.4(DSE):c.357C>T (p.Asn119=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2722759	NM_013352.4(DSE):c.714C>T (p.Thr238=)	DSE	Single nucleotide variant (synonymous variant +3 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GLikely benign
Select item 2718633	NM_013352.4(DSE):c.2602G>A (p.Glu868Lys)	DSE (E868K +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2716973	NM_013352.4(DSE):c.69C>T (p.Tyr23=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2711781	NM_013352.4(DSE):c.807C>T (p.Leu269=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2705712	NM_013352.4(DSE):c.102C>T (p.Pro34=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2693282	NM_013352.4(DSE):c.1293C>A (p.Val431=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2196393	NM_013352.4(DSE):c.1926_1927inv (p.Gly643Arg)	DSE (G456R +4 more)	Inversion (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2195982	NM_013352.4(DSE):c.2500A>G (p.Lys834Glu)	DSE (K647E +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2194726	NM_013352.4(DSE):c.863C>T (p.Pro288Leu)	DSE (P101L +2 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2192451	NM_013352.4(DSE):c.34T>A (p.Phe12Ile)	DSE (F31I +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2189734	NM_013352.4(DSE):c.59T>G (p.Val20Gly)	DSE (V20G +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2186400	NM_013352.4(DSE):c.2032G>A (p.Gly678Arg)	DSE (G345R +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2182739	NM_013352.4(DSE):c.780G>T (p.Ala260=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2178986	NM_013352.4(DSE):c.2016G>A (p.Gln672=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2172142	NM_013352.4(DSE):c.2213A>G (p.Tyr738Cys)	DSE (Y393C +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2169759	NM_013352.4(DSE):c.1834G>A (p.Gly612Ser)	DSE (G267S +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2168106	NM_013352.4(DSE):c.144C>T (p.Phe48=)	DSE	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2168054	NM_013352.4(DSE):c.826G>A (p.Val276Ile)	DSE (V295I +2 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2156153	NM_013352.4(DSE):c.1237T>C (p.Ser413Pro)	DSE (S68P +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2147477	NM_013352.4(DSE):c.237G>A (p.Leu79=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2146486	NM_013352.4(DSE):c.33G>A (p.Val11=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2146166	NM_013352.4(DSE):c.670+20A>G	DSE	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2145685	NM_013352.4(DSE):c.1388A>G (p.Asn463Ser)	DSE (N118S +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2145164	NM_013352.4(DSE):c.171G>T (p.Gln57His)	DSE (Q57H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2135153	NM_013352.4(DSE):c.1938T>C (p.Tyr646=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2132307	NM_013352.4(DSE):c.1421G>C (p.Gly474Ala)	DSE (G129A +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2131779	NM_013352.4(DSE):c.1658A>G (p.Asn553Ser)	DSE (N220S +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2119102	NM_013352.4(DSE):c.480del (p.Ala161fs)	DSE (A180fs +1 more)	Deletion (frameshift variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2115444	NM_013352.4(DSE):c.2546C>A (p.Pro849His)	DSE (P662H +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2086037	NM_013352.4(DSE):c.2288G>A (p.Arg763Gln)	DSE (R418Q +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2083474	NM_013352.4(DSE):c.681A>G (p.Gln227=)	DSE	Single nucleotide variant (synonymous variant +3 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2080882	NM_013352.4(DSE):c.1073C>G (p.Pro358Arg)	DSE (P171R +3 more)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2074841	NM_013352.4(DSE):c.78C>A (p.Asp26Glu)	DSE (D26E +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2061108	NM_013352.4(DSE):c.340G>T (p.Val114Leu)	DSE (V114L +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2059283	NM_013352.4(DSE):c.2511A>T (p.Arg837Ser)	DSE (R492S +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2059133	NM_013352.4(DSE):c.2693C>G (p.Ala898Gly)	DSE (A917G +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2059132	NM_013352.4(DSE):c.2650C>T (p.Arg884Trp)	DSE (R551W +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2057810	NM_013352.4(DSE):c.1751C>T (p.Ala584Val)	DSE (A239V +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2051710	NM_013352.4(DSE):c.16C>A (p.Arg6=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2049778	NM_013352.4(DSE):c.1170A>G (p.Thr390=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2048483	NM_013352.4(DSE):c.910+8G>A	DSE	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 2046992	NM_013352.4(DSE):c.420G>C (p.Leu140Phe)	DSE (L140F +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2046063	NM_013352.4(DSE):c.2072A>G (p.Lys691Arg)	DSE (K710R +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2044761	NM_013352.4(DSE):c.230C>T (p.Thr77Met)	DSE (T96M +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2043501	NM_013352.4(DSE):c.2294G>A (p.Arg765Gln)	DSE (R432Q +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2035611	NM_013352.4(DSE):c.2401C>T (p.Gln801Ter)	DSE (Q456* +4 more)	Single nucleotide variant (nonsense +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2035090	NM_013352.4(DSE):c.647G>T (p.Gly216Val)	DSE (G29V +2 more)	Single nucleotide variant (missense variant +3 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2023687	NM_013352.4(DSE):c.718A>G (p.Met240Val)	DSE (M240V +2 more)	Single nucleotide variant (missense variant +3 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 2017619	NM_013352.4(DSE):c.1620A>G (p.Glu540=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 1985735	NM_013352.4(DSE):c.701A>G (p.Lys234Arg)	DSE (K47R +2 more)	Single nucleotide variant (missense variant +3 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 1983597	NM_013352.4(DSE):c.1832A>G (p.Asp611Gly)	DSE (D278G +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 1982723	NM_013352.4(DSE):c.5G>A (p.Arg2Lys)	DSE (R2K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1979511	NM_013352.4(DSE):c.2196C>A (p.Val732=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 1968312	NM_013352.4(DSE):c.2619G>A (p.Gly873=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 1956329	NM_013352.4(DSE):c.2641G>A (p.Gly881Arg)	DSE (G536R +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 1948013	NM_013352.4(DSE):c.1735C>T (p.Pro579Ser)	DSE (P234S +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 1931858	NM_013352.4(DSE):c.2146C>G (p.Arg716Gly)	DSE (R371G +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 1926723	NM_013352.4(DSE):c.2302G>C (p.Ala768Pro)	DSE (A435P +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 1924685	NM_013352.4(DSE):c.2133G>A (p.Gln711=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 1920201	NM_013352.4(DSE):c.910+9A>C	DSE	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 1920183	NM_013352.4(DSE):c.1614A>T (p.Arg538=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 1908281	NM_013352.4(DSE):c.1635T>C (p.Tyr545=)	DSE	Single nucleotide variant (synonymous variant +2 more)	DSE-related condition +1 more	GLikely benign
Select item 1904708	NM_013352.4(DSE):c.2675G>C (p.Arg892Thr)	DSE (R559T +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 1903897	NM_013352.4(DSE):c.2542C>G (p.Leu848Val)	DSE (L848V +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 1901217	NM_013352.4(DSE):c.2843G>A (p.Trp948Ter)	DSE (W761* +4 more)	Single nucleotide variant (nonsense +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 1717117	NM_013352.4(DSE):c.1243C>G (p.Leu415Val)	DSE (L228V +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 1702236	NM_013352.4(DSE):c.2184G>A (p.Lys728=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1702235	NM_013352.4(DSE):c.189G>A (p.Ser63=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1702233	NM_013352.4(DSE):c.1222G>A (p.Ala408Thr)	DSE (A221T +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GUncertain significance
Select item 1642876	NM_013352.4(DSE):c.1005T>A (p.Arg335=)	DSE	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 1630511	NM_013352.4(DSE):c.243C>T (p.Ser81=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 1629755	NM_013352.4(DSE):c.2766T>C (p.Tyr922=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign

<< First< Prev

Page of 3