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

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

Search results

Items: 1 to 100 of 112

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58441	GRCh38/hg38 6q22.1(chr6:115220054-117196371)x1	CALHM4, CALHM5 +64 more	Copy number loss	See cases	GPathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 59526	GRCh38/hg38 6q22.1(chr6:115890731-116427566)x3	COL10A1, DSE +31 more	Copy number gain	See cases	GUncertain significance
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 509963	NM_013352.4(DSE):c.-59G>T	DSE, LOC100287467 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
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 2503345	NM_013352.4(DSE):c.22dup (p.Ala8fs)	DSE (A27fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 624264	NM_013352.4(DSE):c.35T>A (p.Phe12Tyr)	DSE (F12Y +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	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 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 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 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 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 510458	NM_013352.4(DSE):c.114C>T (p.Ala38=)	DSE	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
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 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 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 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 515381	NM_013352.4(DSE):c.240C>T (p.Ser80=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GLikely benign
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 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 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 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 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 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 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 384822	NM_013352.4(DSE):c.711G>C (p.Leu237=)	DSE	Single nucleotide variant (synonymous variant +3 more)	not specified +3 more	GBenign/Likely benign
Select item 1204514	NM_013352.4(DSE):c.780G>A (p.Ala260=)	DSE	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1315241	NM_013352.4(DSE):c.796A>G (p.Thr266Ala)	DSE (T266A +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2168054	NM_013352.4(DSE):c.826G>A (p.Val276Ile)	DSE (V295I +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 384816	NM_013352.4(DSE):c.844A>G (p.Ile282Val)	DSE (I282V +2 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +2 more	GBenign
Select item 3363803	NM_013352.4(DSE):c.881T>G (p.Phe294Cys)	DSE (F107C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2442726	NM_013352.4(DSE):c.891G>A (p.Met297Ile)	DSE (M110I +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 384815	NM_013352.4(DSE):c.910+20G>A	DSE	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GLikely benign
Select item 1216986	NM_013352.4(DSE):c.911-251G>A	DSE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178283	NM_013352.4(DSE):c.911-231A>C	DSE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678582	NM_013352.4(DSE):c.911-229G>A	DSE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198405	NM_013352.4(DSE):c.911-114C>T	DSE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678111	NM_013352.4(DSE):c.911-50G>T	DSE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509805	NM_013352.4(DSE):c.911-15A>G	DSE	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 3372980	NM_013352.4(DSE):c.1000A>G (p.Met334Val)	DSE (M147V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 392192	NM_013352.4(DSE):c.1004G>A (p.Arg335His)	DSE (R335H +2 more)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GConflicting classifications of pathogenicity
Select item 517057	NM_013352.4(DSE):c.1118+15G>A	DSE	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GBenign
Select item 1203992	NM_013352.4(DSE):c.1118+43G>A	DSE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215433	NM_013352.4(DSE):c.1119-285C>G	DSE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1297181	NM_013352.4(DSE):c.1119-83G>A	DSE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 384689	NM_013352.4(DSE):c.1142T>C (p.Val381Ala)	DSE (V381A +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GBenign
Select item 1193512	NM_013352.4(DSE):c.1173G>A (p.Leu391=)	DSE	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 514821	NM_013352.4(DSE):c.1221T>A (p.Pro407=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GLikely benign
Select item 682285	NM_013352.4(DSE):c.1284T>C (p.Tyr428=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GLikely benign
Select item 1210976	NM_013352.4(DSE):c.1383T>A (p.Ala461=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GLikely benign
Select item 1314657	NM_013352.4(DSE):c.1420G>A (p.Gly474Arg)	DSE (G129R +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 507176	NM_013352.4(DSE):c.1428G>A (p.Lys476=)	DSE	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1204713	NM_013352.4(DSE):c.1437C>T (p.Phe479=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GLikely benign
Select item 1207430	NM_013352.4(DSE):c.1512A>G (p.Glu504=)	DSE	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1205788	NM_013352.4(DSE):c.1582G>A (p.Ala528Thr)	DSE (A183T +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1205494	NM_013352.4(DSE):c.1653G>A (p.Leu551=)	DSE	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 517685	NM_013352.4(DSE):c.1752G>C (p.Ala584=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GLikely benign
Select item 513414	NM_013352.4(DSE):c.1827G>A (p.Gln609=)	DSE	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 1198941	NM_013352.4(DSE):c.1860C>T (p.Asp620=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GLikely benign
Select item 450138	NM_013352.4(DSE):c.1897G>A (p.Val633Met)	DSE (V633M +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1518045	NM_013352.4(DSE):c.1909C>T (p.Arg637Trp)	DSE (R304W +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GUncertain significance
Select item 1212623	NM_013352.4(DSE):c.1913G>A (p.Gly638Asp)	DSE (G293D +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 739017	NM_013352.4(DSE):c.1961G>A (p.Arg654Gln)	DSE (R321Q +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 507955	NM_013352.4(DSE):c.2001A>G (p.Pro667=)	DSE	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 541546	NM_013352.4(DSE):c.2005A>G (p.Ile669Val)	DSE (I669V +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2428884	NM_013352.4(DSE):c.2075A>G (p.His692Arg)	DSE (H347R +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 668409	NM_013352.4(DSE):c.2082C>T (p.Tyr694=)	DSE	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 452701	NM_013352.4(DSE):c.2083G>A (p.Ala695Thr)	DSE (A695T +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2576809	NM_013352.4(DSE):c.2091C>G (p.Tyr697Ter)	DSE (Y352* +4 more)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 776148	NM_013352.4(DSE):c.2120C>G (p.Ser707Cys)	DSE (S726C +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GLikely benign
Select item 1413799	NM_013352.4(DSE):c.2147G>A (p.Arg716His)	DSE (R383H +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 452829	NM_013352.4(DSE):c.2168G>A (p.Arg723Gln)	DSE (R723Q +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 681762	NM_013352.4(DSE):c.2334G>T (p.Leu778=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GBenign/Likely benign
Select item 680405	NM_013352.4(DSE):c.2370T>C (p.Ile790=)	DSE	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2577573	NM_013352.4(DSE):c.2387T>C (p.Ile796Thr)	DSE (I451T +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1304819	NM_013352.4(DSE):c.2389T>C (p.Ser797Pro)	DSE (S452P +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2572748	NM_013352.4(DSE):c.2428C>T (p.Arg810Ter)	DSE (R465* +4 more)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 514847	NM_013352.4(DSE):c.2428C>G (p.Arg810Gly)	DSE (R810G +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GLikely benign
Select item 1723759	NM_013352.4(DSE):c.2508T>G (p.Ile836Met)	DSE (I491M +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 392237	NM_013352.4(DSE):c.2547C>T (p.Pro849=)	DSE	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign

<< First< Prev

Page of 2