"Ambry Genetics"[submitter] AND "DSE"[gene] - ClinVar

Search results

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2052939	NM_003309.4(TSPYL1):c.1067T>C (p.Ile356Thr)	DSE, TSPYL1 (I356T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2316335	NM_003309.4(TSPYL1):c.889G>T (p.Asp297Tyr)	DSE, TSPYL1 (D297Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390629	NM_003309.4(TSPYL1):c.883G>A (p.Gly295Ser)	DSE, TSPYL1 (G295S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183876	NM_003309.4(TSPYL1):c.755A>G (p.Gln252Arg)	DSE, TSPYL1 (Q252R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183875	NM_003309.4(TSPYL1):c.647A>C (p.Glu216Ala)	DSE, TSPYL1 (E216A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321713	NM_003309.4(TSPYL1):c.640G>T (p.Ala214Ser)	DSE, TSPYL1 (A214S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183874	NM_003309.4(TSPYL1):c.619G>A (p.Glu207Lys)	DSE, TSPYL1 (E207K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375233	NM_003309.4(TSPYL1):c.601G>A (p.Glu201Lys)	DSE, TSPYL1 (E201K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282604	NM_003309.4(TSPYL1):c.585G>T (p.Gln195His)	DSE, TSPYL1 (Q195H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232478	NM_003309.4(TSPYL1):c.566A>C (p.Gln189Pro)	DSE, TSPYL1 (Q189P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3329674	NM_003309.4(TSPYL1):c.481G>A (p.Ala161Thr)	DSE, TSPYL1 (A161T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281866	NM_003309.4(TSPYL1):c.463G>T (p.Val155Leu)	DSE, LOC129997035 +1 more (V155L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1908067	NM_003309.4(TSPYL1):c.402C>G (p.Ile134Met)	DSE, LOC129997035 +1 more (I134M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1050295	NM_003309.4(TSPYL1):c.392C>T (p.Ala131Val)	DSE, LOC129997035 +1 more (A131V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608713	NM_003309.4(TSPYL1):c.345G>A (p.Met115Ile)	DSE, LOC129997035 +1 more (M115I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1476835	NM_003309.4(TSPYL1):c.290G>A (p.Gly97Glu)	DSE, LOC129997035 +1 more (G97E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3183873	NM_003309.4(TSPYL1):c.208G>A (p.Val70Ile)	DSE, LOC129997035 +1 more (V70I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281431	NM_003309.4(TSPYL1):c.155G>C (p.Gly52Ala)	DSE, TSPYL1 (G52A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183872	NM_003309.4(TSPYL1):c.146C>T (p.Pro49Leu)	DSE, TSPYL1 (P49L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297649	NM_003309.4(TSPYL1):c.112G>T (p.Asp38Tyr)	DSE, TSPYL1 (D38Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2560347	NM_003309.4(TSPYL1):c.50G>T (p.Ser17Ile)	DSE, TSPYL1 (S17I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250409	NM_003309.4(TSPYL1):c.32C>T (p.Thr11Ile)	DSE, TSPYL1 (T11I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331941	NM_003309.4(TSPYL1):c.17G>T (p.Gly6Val)	DSE, TSPYL1 (G6V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331940	NM_003309.4(TSPYL1):c.16G>A (p.Gly6Arg)	DSE, TSPYL1 (G6R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	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)	not provided +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 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 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 1420411	NM_013352.4(DSE):c.208C>T (p.Arg70Cys)	DSE (R70C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 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)	Inborn genetic diseases +1 more	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 985873	NM_013352.4(DSE):c.387del (p.Asp128_Tyr129insTer)	DSE	Deletion (nonsense +2 more)	Inborn genetic diseases	GPathogenic
Select item 3273832	NM_013352.4(DSE):c.817A>G (p.Met273Val)	DSE (M273V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2329773	NM_013352.4(DSE):c.1051G>A (p.Val351Met)	DSE (V351M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3085914	NM_013352.4(DSE):c.1139C>T (p.Ser380Leu)	DSE (S193L +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2509373	NM_013352.4(DSE):c.1144C>T (p.Pro382Ser)	DSE (P195S +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2248345	NM_013352.4(DSE):c.1198G>A (p.Val400Met)	DSE (V67M +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3085915	NM_013352.4(DSE):c.1214C>T (p.Ala405Val)	DSE (A60V +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 +2 more	GUncertain significance
Select item 520956	NM_013352.4(DSE):c.1271G>A (p.Gly424Glu)	DSE (G424E +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3085916	NM_013352.4(DSE):c.1312G>C (p.Asp438His)	DSE (D105H +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 752550	NM_013352.4(DSE):c.1381G>A (p.Ala461Thr)	DSE (A461T +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GConflicting classifications of pathogenicity
Select item 2983328	NM_013352.4(DSE):c.1420G>C (p.Gly474Arg)	DSE (G141R +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3085917	NM_013352.4(DSE):c.1465G>A (p.Ala489Thr)	DSE (A302T +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 520957	NM_013352.4(DSE):c.1499G>A (p.Gly500Asp)	DSE (G500D +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3085918	NM_013352.4(DSE):c.1549C>G (p.Leu517Val)	DSE (L172V +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1491434	NM_013352.4(DSE):c.1609A>T (p.Ile537Phe)	DSE (I192F +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2602485	NM_013352.4(DSE):c.1627G>A (p.Gly543Arg)	DSE (G198R +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3085919	NM_013352.4(DSE):c.1631C>A (p.Ala544Asp)	DSE (A211D +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3273830	NM_013352.4(DSE):c.1687C>T (p.Pro563Ser)	DSE (P218S +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3085920	NM_013352.4(DSE):c.1710C>A (p.Asp570Glu)	DSE (D383E +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GUncertain significance
Select item 444698	NM_013352.4(DSE):c.1841A>G (p.Tyr614Cys)	DSE (Y614C +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 3085922	NM_013352.4(DSE):c.1901C>T (p.Thr634Ile)	DSE (T301I +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 1467058	NM_013352.4(DSE):c.2063C>T (p.Ala688Val)	DSE (A707V +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	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)	Ehlers-Danlos syndrome, musculocontractural type 2 +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 2605663	NM_013352.4(DSE):c.2090A>G (p.Tyr697Cys)	DSE (Y364C +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 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 +1 more	GUncertain significance
Select item 2256132	NM_013352.4(DSE):c.2233A>T (p.Asn745Tyr)	DSE (N412Y +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2264598	NM_013352.4(DSE):c.2291T>A (p.Val764Asp)	DSE (V431D +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 +1 more	GUncertain significance
Select item 3085923	NM_013352.4(DSE):c.2306G>C (p.Ser769Thr)	DSE (S582T +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2378395	NM_013352.4(DSE):c.2310T>G (p.Phe770Leu)	DSE (F770L +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2368567	NM_013352.4(DSE):c.2332C>G (p.Leu778Val)	DSE (L778V +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1434842	NM_013352.4(DSE):c.2344G>T (p.Asp782Tyr)	DSE (D437Y +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2494157	NM_013352.4(DSE):c.2347A>G (p.Lys783Glu)	DSE (K450E +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3085924	NM_013352.4(DSE):c.2356A>T (p.Thr786Ser)	DSE (T805S +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3273831	NM_013352.4(DSE):c.2427C>A (p.Asn809Lys)	DSE (N476K +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1446315	NM_013352.4(DSE):c.2443C>T (p.Arg815Cys)	DSE (R628C +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2217379	NM_013352.4(DSE):c.2495A>G (p.Asn832Ser)	DSE (N645S +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 +1 more	GUncertain significance
Select item 2318384	NM_013352.4(DSE):c.2549T>C (p.Ile850Thr)	DSE (I505T +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2605085	NM_013352.4(DSE):c.2599T>C (p.Tyr867His)	DSE (Y522H +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2313882	NM_013352.4(DSE):c.2608C>T (p.His870Tyr)	DSE (H889Y +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2243642	NM_013352.4(DSE):c.2647G>T (p.Ala883Ser)	DSE (A550S +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1521949	NM_013352.4(DSE):c.2663C>G (p.Thr888Ser)	DSE (T888S +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1030281	NM_013352.4(DSE):c.2761A>G (p.Thr921Ala)	DSE (T576A +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3273829	NM_013352.4(DSE):c.2821A>G (p.Ile941Val)	DSE (I596V +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 450141	NM_013352.4(DSE):c.2842T>C (p.Trp948Arg)	DSE (W948R +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2547296	NM_013352.4(DSE):c.2861C>T (p.Ser954Phe)	DSE (S973F +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 85