ClinVar for MedGen (Select 397792) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24399001.	NM_014244.5(ADAMTS2):c.2316del (p.Lys772fs) GRCh37: Chr5:178557074 GRCh38: Chr5:179130073	ADAMTS2	K772fs	Ehlers-Danlos syndrome, dermatosparaxis type	Likely pathogenic (Mar 17, 2022)	criteria provided, single submitter
Select item 24388632.	NM_014244.5(ADAMTS2):c.2275A>G (p.Thr759Ala) GRCh37: Chr5:178559246 GRCh38: Chr5:179132245	ADAMTS2	T759A	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 24388623.	NM_014244.5(ADAMTS2):c.3592C>T (p.Leu1198Phe) GRCh37: Chr5:178540912 GRCh38: Chr5:179113911	ADAMTS2	L1198F	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Jan 7, 2021)	criteria provided, single submitter
Select item 24388614.	NM_014244.5(ADAMTS2):c.2634G>C (p.Lys878Asn) GRCh37: Chr5:178553115 GRCh38: Chr5:179126114	ADAMTS2	K878N	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Feb 4, 2019)	criteria provided, single submitter
Select item 24280355.	NM_014244.5(ADAMTS2):c.2773C>A (p.Pro925Thr) GRCh37: Chr5:178552159 GRCh38: Chr5:179125158	ADAMTS2	P925T	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 24259236.	NC_000005.9:g.(?_178770748)_(178772329_?)dup GRCh37: Chr5:178770748-178772329	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 24259227.	NC_000005.9:g.(?_175158654)_(179263593_?)dup GRCh37: Chr5:175158654-179263593	FAM153B, UNC5A, ZNF354C, ZNF454, ZNF879, ZNF346, ZNF354A, FAM193B, GRK6, GRM6, HIGD2A, HK3, HNRNPAB, FGFR4, GPRIN1, ZFP2, ZNF354B, ADAMTS2, ARL10, B4GALT7, C5orf60, CANX, CBY3, CDHR2, CLK4, CLTB, COL23A1, CPLX2, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM153A, HNRNPH1, KIAA1191, LMAN2, LTC4S, MAML1, MGAT4B, MXD3, N4BP3, NHP2, NOP16, NSD1, PDLIM7, PFN3, PHYKPL, PRELID1, PROP1, PRR7, RAB24, RGS14, RMND5B, RNF44, RUFY1, SIMC1, SLC34A1, SNCB, SQSTM1, THOC3, TMED9, TSPAN17, UIMC1		Ehlers-Danlos syndrome, dermatosparaxis type, not provided, Sotos syndrome	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 24259218.	NC_000005.9:g.(?_178540868)_(178700085_?)dup GRCh37: Chr5:178540868-178700085	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Jun 13, 2021)	criteria provided, single submitter
Select item 24259209.	NC_000005.9:g.(?_178408658)_(178585900_?)del GRCh37: Chr5:178408658-178585900	ADAMTS2, GRM6, ZNF354C, ZNF879		Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 242591910.	NC_000005.9:g.(?_178770758)_(178772339_?)del GRCh37: Chr5:178770758-178772339	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Pathogenic (Dec 9, 2021)	criteria provided, single submitter
Select item 242591811.	NC_000005.9:g.(?_178634504)_(178634726_?)del GRCh37: Chr5:178634504-178634726	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Pathogenic (Sep 26, 2022)	criteria provided, single submitter
Select item 242020912.	NM_014244.5(ADAMTS2):c.3147C>T (p.Asp1049=) GRCh37: Chr5:178548693 GRCh38: Chr5:179121692	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Sep 5, 2022)	criteria provided, single submitter
Select item 241688613.	NM_014244.5(ADAMTS2):c.1238+10del GRCh37: Chr5:178581805 GRCh38: Chr5:179154804	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 241475914.	NM_014244.5(ADAMTS2):c.2054C>T (p.Ala685Val) GRCh37: Chr5:178562941 GRCh38: Chr5:179135940	ADAMTS2	A685V	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 219903415.	NM_014244.5(ADAMTS2):c.294C>G (p.Pro98=) GRCh37: Chr5:178771008 GRCh38: Chr5:179344007	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 219895516.	NM_014244.5(ADAMTS2):c.1629+11A>C GRCh37: Chr5:178579132 GRCh38: Chr5:179152131	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 219876517.	NM_014244.5(ADAMTS2):c.1761G>C (p.Gln587His) GRCh37: Chr5:178566905 GRCh38: Chr5:179139904	ADAMTS2	Q587H	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 219842018.	NM_014244.5(ADAMTS2):c.65_66insTCT (p.Leu23_Pro24insLeu) GRCh37: Chr5:178772264-178772265 GRCh38: Chr5:179345263-179345264	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 219602319.	NM_014244.5(ADAMTS2):c.2388G>A (p.Glu796=) GRCh37: Chr5:178557002 GRCh38: Chr5:179130001	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 219580020.	NM_014244.5(ADAMTS2):c.2569G>A (p.Glu857Lys) GRCh37: Chr5:178555008 GRCh38: Chr5:179128007	ADAMTS2	E857K	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 219576621.	NM_014244.5(ADAMTS2):c.795C>T (p.Asp265=) GRCh37: Chr5:178634610 GRCh38: Chr5:179207609	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (May 11, 2022)	criteria provided, single submitter
Select item 219542022.	NM_014244.5(ADAMTS2):c.3576C>T (p.Asn1192=) GRCh37: Chr5:178540928 GRCh38: Chr5:179113927	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 219531623.	NM_014244.5(ADAMTS2):c.2017A>G (p.Met673Val) GRCh37: Chr5:178562978 GRCh38: Chr5:179135977	ADAMTS2	M673V	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 219528324.	NM_014244.5(ADAMTS2):c.2450C>G (p.Thr817Ser) GRCh37: Chr5:178556940 GRCh38: Chr5:179129939	ADAMTS2	T817S	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 219509325.	NM_014244.5(ADAMTS2):c.664G>A (p.Gly222Arg) GRCh37: Chr5:178699936 GRCh38: Chr5:179272935	ADAMTS2	G222R	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Dec 29, 2021)	criteria provided, single submitter
Select item 219389426.	NM_014244.5(ADAMTS2):c.140-17G>T GRCh37: Chr5:178771179 GRCh38: Chr5:179344178	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 219388327.	NM_014244.5(ADAMTS2):c.2885C>T (p.Ala962Val) GRCh37: Chr5:178552047 GRCh38: Chr5:179125046	ADAMTS2	A962V	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Oct 14, 2021)	criteria provided, single submitter
Select item 219355528.	NM_014244.5(ADAMTS2):c.139+6T>A GRCh37: Chr5:178772185 GRCh38: Chr5:179345184	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Dec 18, 2021)	criteria provided, single submitter
Select item 219300929.	NM_014244.5(ADAMTS2):c.3145G>A (p.Asp1049Asn) GRCh37: Chr5:178548695 GRCh38: Chr5:179121694	ADAMTS2	D1049N	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 219198830.	NM_014244.5(ADAMTS2):c.1906C>T (p.His636Tyr) GRCh37: Chr5:178564815 GRCh38: Chr5:179137814	ADAMTS2	H636Y	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 218930131.	NM_014244.5(ADAMTS2):c.1791C>A (p.Gly597=) GRCh37: Chr5:178564930 GRCh38: Chr5:179137929	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Jun 18, 2022)	criteria provided, single submitter
Select item 218897732.	NM_014244.5(ADAMTS2):c.670C>T (p.Pro224Ser) GRCh37: Chr5:178699930 GRCh38: Chr5:179272929	ADAMTS2	P224S	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 218839433.	NM_014244.5(ADAMTS2):c.1575T>C (p.Phe525=) GRCh37: Chr5:178579197 GRCh38: Chr5:179152196	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 218820134.	NM_014244.5(ADAMTS2):c.3231C>T (p.Ser1077=) GRCh37: Chr5:178541273 GRCh38: Chr5:179114272	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 218772335.	NM_014244.5(ADAMTS2):c.45G>C (p.Ala15=) GRCh37: Chr5:178772285 GRCh38: Chr5:179345284	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (May 14, 2022)	criteria provided, single submitter
Select item 218673736.	NM_014244.5(ADAMTS2):c.1334G>A (p.Arg445His) GRCh37: Chr5:178581098 GRCh38: Chr5:179154097	ADAMTS2	R445H	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 218642737.	NM_014244.5(ADAMTS2):c.2506A>C (p.Ile836Leu) GRCh37: Chr5:178555071 GRCh38: Chr5:179128070	ADAMTS2	I836L	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 218353338.	NM_014244.5(ADAMTS2):c.2457+12C>G GRCh37: Chr5:178556921 GRCh38: Chr5:179129920	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 218320839.	NM_014244.5(ADAMTS2):c.2268A>T (p.Val756=) GRCh37: Chr5:178559253 GRCh38: Chr5:179132252	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Jan 5, 2022)	criteria provided, single submitter
Select item 218254040.	NM_014244.5(ADAMTS2):c.3161_3163del (p.Ile1054del) GRCh37: Chr5:178548677-178548679 GRCh38: Chr5:179121676-179121678	ADAMTS2	I1054del	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 218009841.	NM_014244.5(ADAMTS2):c.1833C>T (p.Ser611=) GRCh37: Chr5:178564888 GRCh38: Chr5:179137887	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 217969342.	NM_014244.5(ADAMTS2):c.2085+17C>A GRCh37: Chr5:178562893 GRCh38: Chr5:179135892	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 217782743.	NM_014244.5(ADAMTS2):c.679C>T (p.Leu227=) GRCh37: Chr5:178699921 GRCh38: Chr5:179272920	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Dec 11, 2021)	criteria provided, single submitter
Select item 217590444.	NM_014244.5(ADAMTS2):c.71_82del (p.Pro24_Leu27del) GRCh37: Chr5:178772248-178772259 GRCh38: Chr5:179345247-179345258	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter
Select item 217533045.	NM_014244.5(ADAMTS2):c.1389T>C (p.Tyr463=) GRCh37: Chr5:178580618 GRCh38: Chr5:179153617	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 217453846.	NM_014244.5(ADAMTS2):c.2258T>C (p.Ile753Thr) GRCh37: Chr5:178559263 GRCh38: Chr5:179132262	ADAMTS2	I753T	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 217444447.	NM_014244.5(ADAMTS2):c.3305T>G (p.Val1102Gly) GRCh37: Chr5:178541199 GRCh38: Chr5:179114198	ADAMTS2	V1102G	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 217227548.	NM_014244.5(ADAMTS2):c.293C>G (p.Pro98Arg) GRCh37: Chr5:178771009 GRCh38: Chr5:179344008	ADAMTS2	P98R	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 216922249.	NM_014244.5(ADAMTS2):c.253C>A (p.Arg85=) GRCh37: Chr5:178771049 GRCh38: Chr5:179344048	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 216673450.	NM_014244.5(ADAMTS2):c.1132+6C>T GRCh37: Chr5:178585718 GRCh38: Chr5:179158717	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 216607651.	NM_014244.5(ADAMTS2):c.732_733delinsTA (p.Val245Ile) GRCh37: Chr5:178634672-178634673 GRCh38: Chr5:179207671-179207672	ADAMTS2	V245I	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 216366552.	NM_014244.5(ADAMTS2):c.1383-6C>G GRCh37: Chr5:178580630 GRCh38: Chr5:179153629	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 215897753.	NM_014244.5(ADAMTS2):c.712A>C (p.Ser238Arg) GRCh37: Chr5:178634693 GRCh38: Chr5:179207692	ADAMTS2	S238R	Ehlers-Danlos syndrome, dermatosparaxis type, not provided	Uncertain significance (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 215792754.	NM_014244.5(ADAMTS2):c.642G>A (p.Arg214=) GRCh37: Chr5:178699958 GRCh38: Chr5:179272957	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 215791955.	NM_014244.5(ADAMTS2):c.255A>C (p.Arg85=) GRCh37: Chr5:178771047 GRCh38: Chr5:179344046	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 215757856.	NM_014244.5(ADAMTS2):c.1776-8T>G GRCh37: Chr5:178564953 GRCh38: Chr5:179137952	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Apr 17, 2022)	criteria provided, single submitter
Select item 215724157.	NM_014244.5(ADAMTS2):c.2750+12dup GRCh37: Chr5:178552986-178552987 GRCh38: Chr5:179125985-179125986	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Benign (Sep 6, 2022)	criteria provided, single submitter
Select item 215526658.	NM_014244.5(ADAMTS2):c.976-6C>T GRCh37: Chr5:178585886 GRCh38: Chr5:179158885	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 215417559.	NM_014244.5(ADAMTS2):c.891+13G>A GRCh37: Chr5:178634501 GRCh38: Chr5:179207500	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 215154860.	NM_014244.5(ADAMTS2):c.1383-4A>G GRCh37: Chr5:178580628 GRCh38: Chr5:179153627	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 215150161.	NM_014244.5(ADAMTS2):c.2052C>G (p.Asp684Glu) GRCh37: Chr5:178562943 GRCh38: Chr5:179135942	ADAMTS2	D684E	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Jan 27, 2022)	criteria provided, single submitter
Select item 215137062.	NM_014244.5(ADAMTS2):c.2210G>T (p.Gly737Val) GRCh37: Chr5:178559311 GRCh38: Chr5:179132310	ADAMTS2	G737V	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 215060263.	NM_014244.5(ADAMTS2):c.126C>T (p.Ala42=) GRCh37: Chr5:178772204 GRCh38: Chr5:179345203	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 214992264.	NM_014244.5(ADAMTS2):c.3455C>T (p.Thr1152Ile) GRCh37: Chr5:178541049 GRCh38: Chr5:179114048	ADAMTS2	T1152I	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 214945665.	NM_014244.5(ADAMTS2):c.268G>A (p.Ala90Thr) GRCh37: Chr5:178771034 GRCh38: Chr5:179344033	ADAMTS2	A90T	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 214913966.	NM_014244.5(ADAMTS2):c.2047A>G (p.Lys683Glu) GRCh37: Chr5:178562948 GRCh38: Chr5:179135947	ADAMTS2	K683E	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 214890467.	NM_014244.5(ADAMTS2):c.284C>T (p.Pro95Leu) GRCh37: Chr5:178771018 GRCh38: Chr5:179344017	ADAMTS2	P95L	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 214823868.	NM_014244.5(ADAMTS2):c.2477C>T (p.Thr826Ile) GRCh37: Chr5:178555100 GRCh38: Chr5:179128099	ADAMTS2	T826I	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 214763069.	NM_014244.5(ADAMTS2):c.3615A>G (p.Lys1205=) GRCh37: Chr5:178540889 GRCh38: Chr5:179113888	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Dec 26, 2021)	criteria provided, single submitter
Select item 214761670.	NM_014244.5(ADAMTS2):c.2316G>A (p.Lys772=) GRCh37: Chr5:178557074 GRCh38: Chr5:179130073	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 214686671.	NM_014244.5(ADAMTS2):c.1368G>A (p.Leu456=) GRCh37: Chr5:178581064 GRCh38: Chr5:179154063	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 214664972.	NM_014244.5(ADAMTS2):c.1396C>T (p.Leu466=) GRCh37: Chr5:178580611 GRCh38: Chr5:179153610	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 214630173.	NM_014244.5(ADAMTS2):c.3513A>G (p.Glu1171=) GRCh37: Chr5:178540991 GRCh38: Chr5:179113990	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Dec 25, 2021)	criteria provided, single submitter
Select item 214589574.	NM_014244.5(ADAMTS2):c.64_65insCGC (p.Leu21_Leu22insPro) GRCh37: Chr5:178772265-178772266 GRCh38: Chr5:179345264-179345265	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Feb 7, 2022)	criteria provided, single submitter
Select item 214494575.	NM_014244.5(ADAMTS2):c.1087G>A (p.Ala363Thr) GRCh37: Chr5:178585769 GRCh38: Chr5:179158768	ADAMTS2	A363T	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 214493976.	NM_014244.5(ADAMTS2):c.82_102dup (p.Pro34_Ala35insLeuProProProProProPro) GRCh37: Chr5:178772227-178772228 GRCh38: Chr5:179345226-179345227	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 214442377.	NM_014244.5(ADAMTS2):c.2644C>T (p.Arg882Cys) GRCh37: Chr5:178553105 GRCh38: Chr5:179126104	ADAMTS2	R882C	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 214306078.	NM_014244.5(ADAMTS2):c.2888G>A (p.Arg963Gln) GRCh37: Chr5:178552044 GRCh38: Chr5:179125043	ADAMTS2	R963Q	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 214282079.	NM_014244.5(ADAMTS2):c.650C>T (p.Thr217Met) GRCh37: Chr5:178699950 GRCh38: Chr5:179272949	ADAMTS2	T217M	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (May 14, 2022)	criteria provided, single submitter
Select item 214162080.	NM_014244.5(ADAMTS2):c.1995G>A (p.Gly665=) GRCh37: Chr5:178563000 GRCh38: Chr5:179135999	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 214103081.	NM_014244.5(ADAMTS2):c.858_859delinsTA (p.Val287Ile) GRCh37: Chr5:178634546-178634547 GRCh38: Chr5:179207545-179207546	ADAMTS2	V287I	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 214088882.	NM_014244.5(ADAMTS2):c.335A>G (p.Asn112Ser) GRCh37: Chr5:178770967 GRCh38: Chr5:179343966	ADAMTS2	N112S	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 214034983.	NM_014244.5(ADAMTS2):c.1992C>T (p.Thr664=) GRCh37: Chr5:178563003 GRCh38: Chr5:179136002	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 213821284.	NM_014244.5(ADAMTS2):c.1279G>A (p.Asp427Asn) GRCh37: Chr5:178581153 GRCh38: Chr5:179154152	ADAMTS2	D427N	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 213782885.	NM_014244.5(ADAMTS2):c.2072G>A (p.Arg691His) GRCh37: Chr5:178562923 GRCh38: Chr5:179135922	ADAMTS2	R691H	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 213292986.	NM_014244.5(ADAMTS2):c.725C>G (p.Ala242Gly) GRCh37: Chr5:178634680 GRCh38: Chr5:179207679	ADAMTS2	A242G	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 213256387.	NM_014244.5(ADAMTS2):c.3343G>C (p.Asp1115His) GRCh37: Chr5:178541161 GRCh38: Chr5:179114160	ADAMTS2	D1115H	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 213148188.	NM_014244.5(ADAMTS2):c.535-6C>A GRCh37: Chr5:178700071 GRCh38: Chr5:179273070	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 213016589.	NM_014244.5(ADAMTS2):c.1845C>A (p.Cys615Ter) GRCh37: Chr5:178564876 GRCh38: Chr5:179137875	ADAMTS2	C615*	Ehlers-Danlos syndrome, dermatosparaxis type	Pathogenic (Apr 24, 2022)	criteria provided, single submitter
Select item 212917990.	NM_014244.5(ADAMTS2):c.215C>T (p.Ser72Phe) GRCh37: Chr5:178771087 GRCh38: Chr5:179344086	ADAMTS2	S72F	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 212759891.	NM_014244.5(ADAMTS2):c.637C>G (p.Arg213Gly) GRCh37: Chr5:178699963 GRCh38: Chr5:179272962	ADAMTS2	R213G	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Jan 12, 2022)	criteria provided, single submitter
Select item 212292392.	NM_014244.5(ADAMTS2):c.3000G>C (p.Val1000=) GRCh37: Chr5:178549733 GRCh38: Chr5:179122732	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 212290693.	NM_014244.5(ADAMTS2):c.285G>T (p.Pro95=) GRCh37: Chr5:178771017 GRCh38: Chr5:179344016	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 211986194.	NM_014244.5(ADAMTS2):c.581T>C (p.Leu194Ser) GRCh37: Chr5:178700019 GRCh38: Chr5:179273018	ADAMTS2	L194S	Ehlers-Danlos syndrome, dermatosparaxis type	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 211870995.	NM_014244.5(ADAMTS2):c.471C>G (p.Tyr157Ter) GRCh37: Chr5:178770831 GRCh38: Chr5:179343830	ADAMTS2	Y157*	Ehlers-Danlos syndrome, dermatosparaxis type	Pathogenic (Mar 28, 2022)	criteria provided, single submitter
Select item 211312696.	NM_014244.5(ADAMTS2):c.2398G>T (p.Glu800Ter) GRCh37: Chr5:178556992 GRCh38: Chr5:179129991	ADAMTS2	E800*	Ehlers-Danlos syndrome, dermatosparaxis type	Pathogenic (Mar 16, 2022)	criteria provided, single submitter
Select item 210857697.	NM_014244.5(ADAMTS2):c.1611T>G (p.Thr537=) GRCh37: Chr5:178579161 GRCh38: Chr5:179152160	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 210760998.	NM_014244.5(ADAMTS2):c.726C>G (p.Ala242=) GRCh37: Chr5:178634679 GRCh38: Chr5:179207678	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 210568299.	NM_014244.5(ADAMTS2):c.1686C>T (p.Gly562=) GRCh37: Chr5:178566980 GRCh38: Chr5:179139979	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 2105642100.	NM_014244.5(ADAMTS2):c.1952-17A>C GRCh37: Chr5:178563060 GRCh38: Chr5:179136059	ADAMTS2		Ehlers-Danlos syndrome, dermatosparaxis type	Likely benign (Jul 30, 2022)	criteria provided, single submitter

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