ClinVar for Gene (Select 170691) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 1317

<< First< Prev

Page of 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243918	NC_000015.9:g.(?_100672192)_(100672377_?)dup	ADAMTS17	Duplication	not provided	GLikely pathogenic
Select item 3243917	NC_000015.9:g.(?_100794321)_(100821626_?)del	ADAMTS17	Deletion	not provided	GUncertain significance
Select item 3243916	NC_000015.9:g.(?_100514607)_(100537814_?)del	ADAMTS17	Deletion	not provided	GPathogenic
Select item 3243915	NC_000015.9:g.(?_100514607)_(100594279_?)del	ADAMTS17	Deletion	not provided	GPathogenic
Select item 3243914	NC_000015.9:g.(?_100649174)_(100657238_?)del	ADAMTS17	Deletion	not provided	GPathogenic
Select item 3243913	NC_000015.9:g.(?_100794321)_(100882104_?)del	ADAMTS17	Deletion	not provided	GPathogenic
Select item 3243912	NC_000015.9:g.(?_100794321)_(100794404_?)del	ADAMTS17	Deletion	not provided	GPathogenic
Select item 3242325	GRCh37/hg19 15q26.3(chr15:98615561-102400033)x1	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not provided	GPathogenic
Select item 3147861	NM_139057.4(ADAMTS17):c.956G>A (p.Arg319Gln)	ADAMTS17 (R319Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147854	NM_139057.4(ADAMTS17):c.908C>T (p.Ser303Phe)	ADAMTS17 (S303F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147841	NM_139057.4(ADAMTS17):c.849G>C (p.Lys283Asn)	ADAMTS17 (K283N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147839	NM_139057.4(ADAMTS17):c.847A>C (p.Lys283Gln)	ADAMTS17 (K283Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147819	NM_139057.4(ADAMTS17):c.569C>G (p.Pro190Arg)	ADAMTS17 (P190R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147788	NM_139057.4(ADAMTS17):c.2782T>A (p.Ser928Thr)	ADAMTS17 (S928T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147773	NM_139057.4(ADAMTS17):c.2726G>C (p.Arg909Pro)	ADAMTS17 (R909P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147748	NM_139057.4(ADAMTS17):c.2497A>G (p.Lys833Glu)	ADAMTS17 (K833E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147716	NM_139057.4(ADAMTS17):c.2292G>C (p.Leu764Phe)	ADAMTS17 (L764F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147701	NM_139057.4(ADAMTS17):c.1933C>T (p.Pro645Ser)	ADAMTS17 (P645S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147697	NM_139057.4(ADAMTS17):c.181C>T (p.Arg61Trp)	ADAMTS17 (R61W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147686	NM_139057.4(ADAMTS17):c.1655G>C (p.Trp552Ser)	ADAMTS17 (W552S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065118	NM_139057.4(ADAMTS17):c.197_206del (p.Arg66fs)	ADAMTS17 (R66fs)	Deletion (frameshift variant)	Weill-Marchesani 4 syndrome, recessive	GLikely pathogenic
Select item 3063390	GRCh37/hg19 15q26.3(chr15:100614375-100892894)x1	ADAMTS17	Copy number loss	not specified	GUncertain significance
Select item 3063384	GRCh37/hg19 15q26.1-26.3(chr15:94176550-102429112)x3	ADAMTS17, ALDH1A3 +23 more	Copy number gain	not specified	GPathogenic
Select item 3063383	GRCh37/hg19 15q26.2-26.3(chr15:94300072-101810099)x1	ADAMTS17, ALDH1A3 +16 more	Copy number loss	not specified	GPathogenic
Select item 3063364	GRCh37/hg19 15q26.3(chr15:98679543-102429112)x1	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not specified	GPathogenic
Select item 3032886	NM_139057.4(ADAMTS17):c.354_367del (p.Gly119fs)	ADAMTS17 (G119fs)	Deletion (frameshift variant)	ADAMTS17-related disorder	GLikely pathogenic
Select item 3022525	NM_139057.4(ADAMTS17):c.687C>T (p.Thr229=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021595	NM_139057.4(ADAMTS17):c.672C>T (p.Asn224=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015898	NM_139057.4(ADAMTS17):c.2017-6C>G	ADAMTS17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012857	NM_139057.4(ADAMTS17):c.616+11G>A	ADAMTS17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012320	NM_139057.4(ADAMTS17):c.159G>A (p.Leu53=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006777	NM_139057.4(ADAMTS17):c.3127+20C>T	ADAMTS17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006461	NM_139057.4(ADAMTS17):c.3060C>T (p.Tyr1020=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005856	NM_139057.4(ADAMTS17):c.1560G>A (p.Glu520=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005277	NM_139057.4(ADAMTS17):c.390T>C (p.Arg130=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004922	NM_139057.4(ADAMTS17):c.1650C>T (p.Gly550=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002241	NM_139057.4(ADAMTS17):c.1889-14C>A	ADAMTS17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998043	NM_139057.4(ADAMTS17):c.1829A>G (p.Gln610Arg)	ADAMTS17 (Q610R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997069	NM_139057.4(ADAMTS17):c.2797-15_2797-12del	ADAMTS17	Deletion (intron variant)	not provided	GLikely benign
Select item 2996735	NM_139057.4(ADAMTS17):c.80-6C>T	ADAMTS17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996285	NM_139057.4(ADAMTS17):c.1845G>A (p.Leu615=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995403	NM_139057.4(ADAMTS17):c.2137+15A>G	ADAMTS17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994628	NM_139057.4(ADAMTS17):c.80-15C>T	ADAMTS17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994248	NM_139057.4(ADAMTS17):c.1401C>T (p.Gly467=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994132	NM_139057.4(ADAMTS17):c.2640C>T (p.Gly880=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993667	NM_139057.4(ADAMTS17):c.1341C>T (p.Cys447=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991447	NM_139057.4(ADAMTS17):c.3127+9_3127+10del	ADAMTS17	Deletion (intron variant)	not provided	GLikely benign
Select item 2989880	NM_139057.4(ADAMTS17):c.210C>T (p.Ala70=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986144	NM_139057.4(ADAMTS17):c.131G>A (p.Arg44His)	ADAMTS17 (R44H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985796	NM_139057.4(ADAMTS17):c.2026T>C (p.Cys676Arg)	ADAMTS17 (C676R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985790	NM_139057.4(ADAMTS17):c.223C>A (p.Arg75=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985638	NM_139057.4(ADAMTS17):c.2964C>T (p.Cys988=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985071	NM_139057.4(ADAMTS17):c.1851C>T (p.Pro617=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984639	NM_139057.4(ADAMTS17):c.616+10G>A	ADAMTS17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980692	NM_139057.4(ADAMTS17):c.80-17C>T	ADAMTS17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977645	NM_139057.4(ADAMTS17):c.451-8C>T	ADAMTS17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977270	NM_139057.4(ADAMTS17):c.955C>T (p.Arg319Ter)	ADAMTS17 (R319*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2976946	NM_139057.4(ADAMTS17):c.720C>T (p.Ala240=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976760	NM_139057.4(ADAMTS17):c.2160G>A (p.Gly720=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974476	NM_139057.4(ADAMTS17):c.2301G>A (p.Leu767=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974366	NM_139057.4(ADAMTS17):c.1617G>A (p.Pro539=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972647	NM_139057.4(ADAMTS17):c.2877G>C (p.Thr959=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972441	NM_139057.4(ADAMTS17):c.2835C>T (p.Thr945=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972421	NM_139057.4(ADAMTS17):c.1721+15C>G	ADAMTS17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972182	NM_139057.4(ADAMTS17):c.1721+20A>G	ADAMTS17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972046	NM_139057.4(ADAMTS17):c.447C>A (p.Gly149=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971814	NM_139057.4(ADAMTS17):c.1888+18G>A	ADAMTS17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971510	NM_139057.4(ADAMTS17):c.12C>A (p.Gly4=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971058	NM_139057.4(ADAMTS17):c.1939C>A (p.Leu647Met)	ADAMTS17 (L647M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969596	NM_139057.4(ADAMTS17):c.80-20C>G	ADAMTS17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968369	NM_139057.4(ADAMTS17):c.1214C>T (p.Ser405Phe)	ADAMTS17 (S405F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967829	NM_139057.4(ADAMTS17):c.1995C>T (p.Leu665=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965171	NM_139057.4(ADAMTS17):c.228C>T (p.Pro76=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963713	NM_139057.4(ADAMTS17):c.1076-9C>T	ADAMTS17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962257	NM_139057.4(ADAMTS17):c.790-5G>C	ADAMTS17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962125	NM_139057.4(ADAMTS17):c.648G>A (p.Ser216=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961665	NM_139057.4(ADAMTS17):c.2577C>T (p.His859=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961649	NM_139057.4(ADAMTS17):c.2456-6T>A	ADAMTS17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960325	NM_139057.4(ADAMTS17):c.1803G>T (p.Leu601=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959553	NM_139057.4(ADAMTS17):c.2337A>G (p.Glu779=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959138	NM_139057.4(ADAMTS17):c.1507G>A (p.Glu503Lys)	ADAMTS17 (E503K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958445	NM_139057.4(ADAMTS17):c.2455+10C>T	ADAMTS17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958047	NM_139057.4(ADAMTS17):c.80-19G>T	ADAMTS17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957030	NM_139057.4(ADAMTS17):c.1293C>T (p.Cys431=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955880	NM_139057.4(ADAMTS17):c.789+18G>A	ADAMTS17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955195	NM_139057.4(ADAMTS17):c.1136A>T (p.Asn379Ile)	ADAMTS17 (N379I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2909697	NM_139057.4(ADAMTS17):c.99C>G (p.Ala33=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908762	NM_139057.4(ADAMTS17):c.306C>T (p.Phe102=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908351	NM_139057.4(ADAMTS17):c.1596C>T (p.Cys532=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908047	NM_139057.4(ADAMTS17):c.2373A>G (p.Gln791=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906139	NM_139057.4(ADAMTS17):c.358_366dup (p.Ala122_Glu123insArgProAla)	ADAMTS17	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2905664	NM_139057.4(ADAMTS17):c.942G>C (p.Glu314Asp)	ADAMTS17 (E314D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901614	NM_139057.4(ADAMTS17):c.1431G>A (p.Gln477=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898849	NM_139057.4(ADAMTS17):c.1572C>T (p.Asp524=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891642	NM_139057.4(ADAMTS17):c.2634G>A (p.Glu878=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891175	NM_139057.4(ADAMTS17):c.2625G>A (p.Ala875=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890571	NM_139057.4(ADAMTS17):c.1683G>A (p.Thr561=)	ADAMTS17, LOC130058037	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889000	NM_139057.4(ADAMTS17):c.80-8C>G	ADAMTS17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887379	NM_139057.4(ADAMTS17):c.366C>G (p.Ala122=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885930	NM_139057.4(ADAMTS17):c.1716C>T (p.Asn572=)	ADAMTS17, LOC130058037	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 14