"GeneDx"[submitter] AND "ADAMTS2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 353080	NM_014244.5(ADAMTS2):c.*212A>C	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GBenign
Select item 429851	NM_014244.5(ADAMTS2):c.3625G>A (p.Gly1209Arg)	ADAMTS2 (G1209R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GUncertain significance
Select item 507772	NM_014244.5(ADAMTS2):c.3624C>T (p.Leu1208=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GLikely benign
Select item 1313818	NM_014244.5(ADAMTS2):c.3614_3617del (p.Lys1205fs)	ADAMTS2 (K1205fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 512802	NM_014244.5(ADAMTS2):c.3607C>T (p.Arg1203Trp)	ADAMTS2 (R1203W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1313169	NM_014244.5(ADAMTS2):c.3604A>T (p.Met1202Leu)	ADAMTS2 (M1202L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315139	NM_014244.5(ADAMTS2):c.3575A>G (p.Asn1192Ser)	ADAMTS2 (N1192S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GUncertain significance
Select item 451540	NM_014244.5(ADAMTS2):c.3551C>T (p.Pro1184Leu)	ADAMTS2 (P1184L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type +2 more	GConflicting classifications of pathogenicity
Select item 968063	NM_014244.5(ADAMTS2):c.3547C>T (p.Arg1183Ter)	ADAMTS2 (R1183*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 469677	NM_014244.5(ADAMTS2):c.3545G>A (p.Arg1182Gln)	ADAMTS2 (R1182Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 353083	NM_014244.5(ADAMTS2):c.3529C>T (p.Pro1177Ser)	ADAMTS2 (P1177S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 353084	NM_014244.5(ADAMTS2):c.3506G>T (p.Gly1169Val)	ADAMTS2 (G1169V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GBenign
Select item 1191237	NM_014244.5(ADAMTS2):c.3503A>C (p.His1168Pro)	ADAMTS2 (H1168P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 857543	NM_014244.5(ADAMTS2):c.3490C>T (p.Pro1164Ser)	ADAMTS2 (P1164S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 353085	NM_014244.5(ADAMTS2):c.3480C>A (p.Ala1160=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GBenign
Select item 353086	NM_014244.5(ADAMTS2):c.3449A>G (p.Asn1150Ser)	ADAMTS2 (N1150S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GUncertain significance
Select item 1314649	NM_014244.5(ADAMTS2):c.3397C>T (p.Arg1133Trp)	ADAMTS2 (R1133W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3369564	NM_014244.5(ADAMTS2):c.3394G>C (p.Val1132Leu)	ADAMTS2 (V1132L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1217937	NM_014244.5(ADAMTS2):c.3380C>T (p.Thr1127Ile)	ADAMTS2 (T1127I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 650995	NM_014244.5(ADAMTS2):c.3352G>A (p.Val1118Met)	ADAMTS2 (V1118M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GUncertain significance
Select item 546992	NM_014244.5(ADAMTS2):c.3343G>A (p.Asp1115Asn)	ADAMTS2 (D1115N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 353090	NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GConflicting classifications of pathogenicity
Select item 1121671	NM_014244.5(ADAMTS2):c.3339C>T (p.His1113=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GLikely benign
Select item 517917	NM_014244.5(ADAMTS2):c.3279T>C (p.Cys1093=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +2 more	GBenign/Likely benign
Select item 966953	NM_014244.5(ADAMTS2):c.3195C>T (p.Gly1065=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GConflicting classifications of pathogenicity
Select item 674590	NM_014244.5(ADAMTS2):c.3178+203_3178+213del	ADAMTS2	Deletion (intron variant)	not provided	GBenign
Select item 1226538	NM_014244.5(ADAMTS2):c.3178+148C>G	ADAMTS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 489357	NM_014244.5(ADAMTS2):c.3178+4A>G	ADAMTS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1118685	NM_014244.5(ADAMTS2):c.3156G>A (p.Ser1052=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GLikely benign
Select item 682809	NM_014244.5(ADAMTS2):c.3154T>G (p.Ser1052Ala)	ADAMTS2 (S1052A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type +2 more	GConflicting classifications of pathogenicity
Select item 1212253	NM_014244.5(ADAMTS2):c.3151G>A (p.Asp1051Asn)	ADAMTS2 (D1051N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1215980	NM_014244.5(ADAMTS2):c.3089-122C>T	ADAMTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672853	NM_014244.5(ADAMTS2):c.3089-293C>A	ADAMTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672823	NM_014244.5(ADAMTS2):c.3089-294G>A	ADAMTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682707	NM_014244.5(ADAMTS2):c.3088+319_3088+320insGCCTGTGTGAGTGGGGGGT	ADAMTS2	Insertion (intron variant)	not provided	GBenign
Select item 1211620	NM_014244.5(ADAMTS2):c.3088+25C>T	ADAMTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1313597	NM_014244.5(ADAMTS2):c.3079C>T (p.Pro1027Ser)	ADAMTS2 (P1027S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 707509	NM_014244.5(ADAMTS2):c.3060G>A (p.Ala1020=)	ADAMTS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2038337	NM_014244.5(ADAMTS2):c.3046C>T (p.Arg1016Cys)	ADAMTS2 (R1016C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 374584	NM_014244.5(ADAMTS2):c.3038A>C (p.Gln1013Pro)	ADAMTS2 (Q1013P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GUncertain significance
Select item 513787	NM_014244.5(ADAMTS2):c.3027C>T (p.Phe1009=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type +2 more	GLikely benign
Select item 508319	NM_014244.5(ADAMTS2):c.3018C>T (p.Asp1006=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type +2 more	GConflicting classifications of pathogenicity
Select item 390199	NM_014244.5(ADAMTS2):c.3014C>T (p.Ala1005Val)	ADAMTS2 (A1005V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type +2 more	GBenign/Likely benign
Select item 713879	NM_014244.5(ADAMTS2):c.3012C>T (p.Thr1004=)	ADAMTS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 353092	NM_014244.5(ADAMTS2):c.2980G>A (p.Gly994Ser)	ADAMTS2 (G994S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 511977	NM_014244.5(ADAMTS2):c.2970C>T (p.Thr990=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GConflicting classifications of pathogenicity
Select item 386318	NM_014244.5(ADAMTS2):c.2959-16G>A	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GBenign
Select item 286180	NM_014244.5(ADAMTS2):c.2959-17C>T	ADAMTS2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1214144	NM_014244.5(ADAMTS2):c.2959-98G>A	ADAMTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212533	NM_014244.5(ADAMTS2):c.2959-152G>T	ADAMTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678487	NM_014244.5(ADAMTS2):c.2959-194T>G	ADAMTS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209017	NM_014244.5(ADAMTS2):c.2958+239A>G	ADAMTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676401	NM_014244.5(ADAMTS2):c.2958+87G>A	ADAMTS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 508238	NM_014244.5(ADAMTS2):c.2958+20C>T	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GBenign/Likely benign
Select item 508237	NM_014244.5(ADAMTS2):c.2958+4C>T	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GConflicting classifications of pathogenicity
Select item 3378295	NM_014244.5(ADAMTS2):c.2915G>A (p.Arg972His)	ADAMTS2 (R972H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303309	NM_014244.5(ADAMTS2):c.2890_2904del (p.Pro964_Arg968del)	ADAMTS2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 469674	NM_014244.5(ADAMTS2):c.2893G>A (p.Glu965Lys)	ADAMTS2 (E965K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 514658	NM_014244.5(ADAMTS2):c.2892C>T (p.Pro964=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GConflicting classifications of pathogenicity
Select item 516933	NM_014244.5(ADAMTS2):c.2880T>C (p.Asn960=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GLikely benign
Select item 972104	NM_014244.5(ADAMTS2):c.2860G>A (p.Val954Met)	ADAMTS2 (V954M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GConflicting classifications of pathogenicity
Select item 905623	NM_014244.5(ADAMTS2):c.2846A>C (p.Asn949Thr)	ADAMTS2 (N949T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GUncertain significance
Select item 422952	NM_014244.5(ADAMTS2):c.2842_2844del (p.Asp948del)	ADAMTS2 (D948del)	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 353094	NM_014244.5(ADAMTS2):c.2834C>T (p.Pro945Leu)	ADAMTS2 (P945L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 353095	NM_014244.5(ADAMTS2):c.2818G>A (p.Val940Met)	ADAMTS2 (V940M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 353096	NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type +2 more	GConflicting classifications of pathogenicity
Select item 1026773	NM_014244.5(ADAMTS2):c.2812C>T (p.Arg938Cys)	ADAMTS2 (R938C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 377440	NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln)	ADAMTS2 (R932Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1161072	NM_014244.5(ADAMTS2):c.2787C>G (p.Thr929=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GLikely benign
Select item 451539	NM_014244.5(ADAMTS2):c.2780G>A (p.Ser927Asn)	ADAMTS2 (S927N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GUncertain significance
Select item 706257	NM_014244.5(ADAMTS2):c.2763C>T (p.Gly921=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GBenign/Likely benign
Select item 353099	NM_014244.5(ADAMTS2):c.2751-4G>A	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 389952	NM_014244.5(ADAMTS2):c.2751-15G>A	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GConflicting classifications of pathogenicity
Select item 1195053	NM_014244.5(ADAMTS2):c.2751-34G>A	ADAMTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682706	NM_014244.5(ADAMTS2):c.2750+284C>T	ADAMTS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196767	NM_014244.5(ADAMTS2):c.2750+256G>A	ADAMTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287356	NM_014244.5(ADAMTS2):c.2750+255C>T	ADAMTS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258817	NM_014244.5(ADAMTS2):c.2750+100G>A	ADAMTS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245990	NM_014244.5(ADAMTS2):c.2750+43A>G	ADAMTS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 353100	NM_014244.5(ADAMTS2):c.2730A>G (p.Pro910=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type +2 more	GBenign
Select item 967430	NM_014244.5(ADAMTS2):c.2719G>A (p.Ala907Thr)	ADAMTS2 (A907T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type +2 more	GUncertain significance
Select item 2444727	NM_014244.5(ADAMTS2):c.2689G>T (p.Ala897Ser)	ADAMTS2 (A897S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451740	NM_014244.5(ADAMTS2):c.2674C>T (p.Arg892Cys)	ADAMTS2 (R892C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GUncertain significance
Select item 2444571	NM_014244.5(ADAMTS2):c.2636A>T (p.Tyr879Phe)	ADAMTS2 (Y879F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 989942	NM_014244.5(ADAMTS2):c.2633A>G (p.Lys878Arg)	ADAMTS2 (K878R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 512493	NM_014244.5(ADAMTS2):c.2628C>T (p.Phe876=)	ADAMTS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1183010	NM_014244.5(ADAMTS2):c.2618-54C>T	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GBenign
Select item 678534	NM_014244.5(ADAMTS2):c.2618-147G>A	ADAMTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683595	NM_014244.5(ADAMTS2):c.2618-191C>T	ADAMTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263160	NM_014244.5(ADAMTS2):c.2618-210A>G	ADAMTS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673859	NM_014244.5(ADAMTS2):c.2618-261C>T	ADAMTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682705	NM_014244.5(ADAMTS2):c.2618-319T>C	ADAMTS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183198	NM_014244.5(ADAMTS2):c.2617+196C>G	ADAMTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209204	NM_014244.5(ADAMTS2):c.2617+152G>A	ADAMTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679081	NM_014244.5(ADAMTS2):c.2617+128G>A	ADAMTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 512758	NM_014244.5(ADAMTS2):c.2617+19del	ADAMTS2	Deletion (intron variant)	not specified +1 more	GLikely benign
Select item 511669	NM_014244.5(ADAMTS2):c.2617+14G>A	ADAMTS2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 513037	NM_014244.5(ADAMTS2):c.2617+13C>T	ADAMTS2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign

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