DSE[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1297170	NM_001080976.3(DSE):c.-192G>C	DSE	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1297179	NM_001080976.3(DSE):c.-54+109A>G	DSE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297180	NM_001080976.3(DSE):c.-54+134A>G	DSE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278763	NM_001080976.3(DSE):c.-54+184A>T	DSE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683469	NM_013352.4(DSE):c.-53-232T>A	DSE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679090	NM_013352.4(DSE):c.-53-89A>G	DSE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669056	NM_013352.4(DSE):c.-53-4G>A	DSE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3038803	NM_013352.4(DSE):c.-46C>T	DSE	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GBenign
Select item 1982723	NM_013352.4(DSE):c.5G>A (p.Arg2Lys)	DSE (R2K +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GUncertain significance
Select item 1486382	NM_013352.4(DSE):c.8C>A (p.Thr3Asn)	DSE (T22N +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
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 2503345	NM_013352.4(DSE):c.22dup (p.Ala8fs)	DSE (A27fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GLikely pathogenic
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 1417289	NM_013352.4(DSE):c.17G>A (p.Arg6Gln)	DSE (R6Q +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
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 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 916485	NM_013352.4(DSE):c.29G>A (p.Ser10Asn)	DSE (S10N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 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 624264	NM_013352.4(DSE):c.35T>A (p.Phe12Tyr)	DSE (F12Y +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +2 more	GUncertain significance
Select item 2252247	NM_013352.4(DSE):c.41T>A (p.Ile14Lys)	DSE (I33K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1054354	NM_013352.4(DSE):c.53G>A (p.Cys18Tyr)	DSE (C18Y +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 387336	NM_013352.4(DSE):c.53G>T (p.Cys18Phe)	DSE (C18F +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +2 more	GBenign
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 1215729	NM_013352.4(DSE):c.68A>G (p.Tyr23Cys)	DSE (Y23C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	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 512749	NM_013352.4(DSE):c.74_75delinsTT (p.Thr25Ile)	DSE (T25I +1 more)	Indel (missense variant +2 more)	not specified	GLikely benign
Select item 384684	NM_013352.4(DSE):c.74C>T (p.Thr25Ile)	DSE (T25I +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GBenign
Select item 1175749	NM_013352.4(DSE):c.75C>T (p.Thr25=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GLikely benign
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 734253	NM_013352.4(DSE):c.78C>T (p.Asp26=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 1310544	NM_013352.4(DSE):c.95T>C (p.Met32Thr)	DSE (M32T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1030283	NM_013352.4(DSE):c.95T>A (p.Met32Lys)	DSE (M51K +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 1441489	NM_013352.4(DSE):c.101C>G (p.Pro34Arg)	DSE (P53R +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 384700	NM_013352.4(DSE):c.101C>T (p.Pro34Leu)	DSE (P34L +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GBenign
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 1586828	NM_013352.4(DSE):c.110A>T (p.Asn37Ile)	DSE (N37I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 1002117	NM_013352.4(DSE):c.110A>G (p.Asn37Ser)	DSE (N37S +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 510458	NM_013352.4(DSE):c.114C>T (p.Ala38=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GBenign
Select item 737936	NM_013352.4(DSE):c.120C>T (p.Tyr40=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 1000265	NM_013352.4(DSE):c.121G>A (p.Asp41Asn)	DSE (D41N +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 515835	NM_013352.4(DSE):c.136C>T (p.Leu46=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GLikely benign
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 3340253	NM_013352.4(DSE):c.161C>T (p.Ala54Val)	DSE (A54V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	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)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GUncertain significance
Select item 2308439	NM_013352.4(DSE):c.179C>G (p.Ala60Gly)	DSE (A60G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1354277	NM_013352.4(DSE):c.182C>A (p.Ala61Asp)	DSE (A80D +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
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 2896624	NM_013352.4(DSE):c.192C>T (p.His64=)	DSE	Single nucleotide variant (non-coding transcript variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 1306886	NM_013352.4(DSE):c.193G>A (p.Glu65Lys)	DSE (E65K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 1420411	NM_013352.4(DSE):c.208C>T (p.Arg70Cys)	DSE (R70C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GUncertain significance
Select item 517062	NM_013352.4(DSE):c.209G>A (p.Arg70His)	DSE (R70H +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +2 more	GBenign
Select item 1188576	NM_013352.4(DSE):c.215C>T (p.Thr72Met)	DSE (T72M +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GUncertain significance
Select item 668223	NM_013352.4(DSE):c.216G>A (p.Thr72=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GBenign/Likely benign
Select item 2044761	NM_013352.4(DSE):c.230C>T (p.Thr77Met)	DSE (T96M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3051976	NM_013352.4(DSE):c.231G>A (p.Thr77=)	DSE	Single nucleotide variant (synonymous variant +2 more)	DSE-related disorder	GLikely benign
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 515381	NM_013352.4(DSE):c.240C>T (p.Ser80=)	DSE	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	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 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 1055608	NM_013352.4(DSE):c.277G>A (p.Asp93Asn)	DSE (D112N +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 1326632	NM_013352.4(DSE):c.285T>G (p.Ser95Arg)	DSE (S114R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1019817	NM_013352.4(DSE):c.325T>G (p.Leu109Val)	DSE (L109V +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 756248	NM_013352.4(DSE):c.330A>C (p.Ala110=)	DSE	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1419822	NM_013352.4(DSE):c.331A>G (p.Met111Val)	DSE (M111V +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 642867	NM_013352.4(DSE):c.355A>C (p.Asn119His)	DSE (N138H +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
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 391864	NM_013352.4(DSE):c.359T>C (p.Ile120Thr)	DSE (I120T +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1030282	NM_013352.4(DSE):c.364G>A (p.Ala122Thr)	DSE (A122T +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 985873	NM_013352.4(DSE):c.387del (p.Asp128_Tyr129insTer)	DSE	Deletion (nonsense +2 more)	Inborn genetic diseases	GPathogenic
Select item 1365878	NM_013352.4(DSE):c.404C>T (p.Ala135Val)	DSE (A135V +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 1708660	NM_013352.4(DSE):c.416+1G>A	DSE	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 506691	NM_013352.4(DSE):c.416+13C>T	DSE	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1195045	NM_013352.4(DSE):c.416+296A>G	DSE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200592	NM_013352.4(DSE):c.417-50A>G	DSE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681441	NM_013352.4(DSE):c.417-15T>G	DSE	Single nucleotide variant (intron variant)	not provided	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 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 511744	NM_013352.4(DSE):c.450G>A (p.Pro150=)	DSE	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 509679	NM_013352.4(DSE):c.483T>G (p.Ala161=)	DSE	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 1341664	NM_013352.4(DSE):c.495G>A (p.Leu165=)	DSE	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 391540	NM_013352.4(DSE):c.495G>T (p.Leu165Phe)	DSE (L165F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 515828	NM_013352.4(DSE):c.516A>G (p.Thr172=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GLikely benign
Select item 3253505	NM_013352.4(DSE):c.557G>T (p.Gly186Val)	DSE (G186V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 736930	NM_013352.4(DSE):c.558G>T (p.Gly186=)	DSE	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1566968	NM_013352.4(DSE):c.600A>G (p.Gln200=)	DSE (I5V)	Single nucleotide variant (synonymous variant +3 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GLikely benign
Select item 1365928	NM_013352.4(DSE):c.611A>G (p.Asn204Ser)	DSE (N204S +2 more)	Single nucleotide variant (missense variant +3 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 1186668	NM_013352.4(DSE):c.645G>A (p.Thr215=)	DSE (G20R)	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GLikely benign
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 1586774	NM_013352.4(DSE):c.670+12C>T	DSE	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GLikely benign
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 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 1249678	NM_013352.4(DSE):c.670+328del	DSE	Deletion (intron variant)	not provided	GBenign
Select item 1189897	NM_013352.4(DSE):c.671-286A>G	DSE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205655	NM_013352.4(DSE):c.671-211A>G	DSE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264803	NM_013352.4(DSE):c.671-165dup	DSE	Duplication (intron variant)	not provided	GBenign
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

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