218[HGNC] - 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 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	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 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	ADAMTS2, B4GALT7 +325 more	Copy number loss	See cases	GPathogenic
Select item 154193	GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3	ADAMTS2, BTNL3 +207 more	Copy number gain	See cases	GLikely pathogenic
Select item 57495	GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3	ADAMTS2, BTNL3 +203 more	Copy number gain	See cases	GUncertain significance
Select item 155523	GRCh38/hg38 5q35.3(chr5:178983149-179627701)x3	ADAMTS2, GRM6 +20 more	Copy number gain	See cases	GLikely benign
Select item 148408	GRCh38/hg38 5q35.3(chr5:178988364-179593557)x3	ADAMTS2, GRM6 +14 more	Copy number gain	See cases	GLikely benign
Select item 353035	NM_014244.5(ADAMTS2):c.2951_2952delinsAA	ADAMTS2	Indel (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 353034	NM_014244.5(ADAMTS2):c.*2952T>A	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GBenign
Select item 353036	NM_014244.5(ADAMTS2):c.*2951G>A	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GBenign
Select item 353037	NM_014244.5(ADAMTS2):c.*2923AAC[1]	ADAMTS2	Microsatellite (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 353038	NM_014244.5(ADAMTS2):c.*2918G>A	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GBenign
Select item 353039	NM_014244.5(ADAMTS2):c.*2854T>C	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 353040	NM_014244.5(ADAMTS2):c.*2853G>A	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 905932	NM_014244.5(ADAMTS2):c.*2840T>G	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 905933	NM_014244.5(ADAMTS2):c.*2820C>A	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 353041	NM_014244.5(ADAMTS2):c.*2724A>G	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 353042	NM_014244.5(ADAMTS2):c.*2598A>G	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GUncertain significance
Select item 353043	NM_014244.5(ADAMTS2):c.*2595C>T	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 353044	NM_014244.5(ADAMTS2):c.*2589T>G	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 353045	NM_014244.5(ADAMTS2):c.*2587T>C	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 908002	NM_014244.5(ADAMTS2):c.*2511C>A	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 353046	NM_014244.5(ADAMTS2):c.*2440G>A	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 353047	NM_014244.5(ADAMTS2):c.*2439C>T	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GBenign
Select item 908003	NM_014244.5(ADAMTS2):c.*2420A>G	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 908004	NM_014244.5(ADAMTS2):c.*2397G>A	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 353048	NM_014244.5(ADAMTS2):c.*2396C>T	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GBenign
Select item 904693	NM_014244.5(ADAMTS2):c.*2302C>T	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 353049	NM_014244.5(ADAMTS2):c.*2301C>T	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GBenign
Select item 353050	NM_014244.5(ADAMTS2):c.*2270C>T	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 353051	NM_014244.5(ADAMTS2):c.*2196T>A	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 904694	NM_014244.5(ADAMTS2):c.*2180C>A	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 904695	NM_014244.5(ADAMTS2):c.*2169G>A	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 353052	NM_014244.5(ADAMTS2):c.*2147C>T	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 905482	NM_014244.5(ADAMTS2):c.*2141G>T	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 353053	NM_014244.5(ADAMTS2):c.*2064A>G	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 905483	NM_014244.5(ADAMTS2):c.*2035G>A	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 353054	NM_014244.5(ADAMTS2):c.*1941C>T	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 353055	NM_014244.5(ADAMTS2):c.*1919T>G	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 905484	NM_014244.5(ADAMTS2):c.*1837T>G	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 353056	NM_014244.5(ADAMTS2):c.*1819G>A	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GBenign
Select item 353057	NM_014244.5(ADAMTS2):c.*1797C>T	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 905485	NM_014244.5(ADAMTS2):c.*1777T>C	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 353058	NM_014244.5(ADAMTS2):c.*1747A>C	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 905994	NM_014244.5(ADAMTS2):c.*1719T>C	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GBenign
Select item 353059	NM_014244.5(ADAMTS2):c.*1639C>T	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 905995	NM_014244.5(ADAMTS2):c.*1589T>C	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 353060	NM_014244.5(ADAMTS2):c.*1586A>G	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GBenign
Select item 353061	NM_014244.5(ADAMTS2):c.1579_1585del	ADAMTS2	Deletion (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 353062	NM_014244.5(ADAMTS2):c.*1573A>C	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 353063	NM_014244.5(ADAMTS2):c.*1486C>A	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GBenign
Select item 353064	NM_014244.5(ADAMTS2):c.*1468A>G	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GBenign
Select item 353065	NM_014244.5(ADAMTS2):c.*1446dup	ADAMTS2	Duplication (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 353066	NM_014244.5(ADAMTS2):c.1437_1438del	ADAMTS2	Deletion (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 907016	NM_014244.5(ADAMTS2):c.*1411G>A	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 353067	NM_014244.5(ADAMTS2):c.*1361A>G	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 353068	NM_014244.5(ADAMTS2):c.*1247C>T	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GBenign
Select item 907017	NM_014244.5(ADAMTS2):c.*1077A>G	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 907018	NM_014244.5(ADAMTS2):c.*985C>T	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 353069	NM_014244.5(ADAMTS2):c.*977G>A	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 353070	NM_014244.5(ADAMTS2):c.*853G>T	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GBenign
Select item 353071	NM_014244.5(ADAMTS2):c.*847C>T	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GBenign
Select item 353072	NM_014244.5(ADAMTS2):c.*843G>A	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 353073	NM_014244.5(ADAMTS2):c.*842T>C	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GBenign
Select item 904770	NM_014244.5(ADAMTS2):c.*835C>T	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 353074	NM_014244.5(ADAMTS2):c.*816C>T	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 904771	NM_014244.5(ADAMTS2):c.*813G>C	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 353075	NM_014244.5(ADAMTS2):c.*707A>G	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 904772	NM_014244.5(ADAMTS2):c.*615T>C	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 905560	NM_014244.5(ADAMTS2):c.*550G>A	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 905561	NM_014244.5(ADAMTS2):c.*534G>A	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GBenign
Select item 905562	NM_014244.5(ADAMTS2):c.*524G>A	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 905563	NM_014244.5(ADAMTS2):c.*518G>T	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 353076	NM_014244.5(ADAMTS2):c.*445G>A	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GBenign
Select item 353077	NM_014244.5(ADAMTS2):c.*353C>T	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 353078	NM_014244.5(ADAMTS2):c.*288G>A	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GBenign
Select item 353079	NM_014244.5(ADAMTS2):c.*222C>T	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
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 353081	NM_014244.5(ADAMTS2):c.*183T>C	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 353082	NM_014244.5(ADAMTS2):c.*181C>T	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 906070	NM_014244.5(ADAMTS2):c.*174G>A	ADAMTS2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 758387	NM_014244.5(ADAMTS2):c.3627A>G (p.Gly1209=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
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)	not provided +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 2147630	NM_014244.5(ADAMTS2):c.3615A>G (p.Lys1205=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 1138643	NM_014244.5(ADAMTS2):c.3609G>A (p.Arg1203=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 568847	NM_014244.5(ADAMTS2):c.3608G>A (p.Arg1203Gln)	ADAMTS2 (R1203Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type	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 578499	NM_014244.5(ADAMTS2):c.3606G>A (p.Met1202Ile)	ADAMTS2 (M1202I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
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 934439	NM_014244.5(ADAMTS2):c.3603G>T (p.Glu1201Asp)	ADAMTS2 (E1201D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 759772	NM_014244.5(ADAMTS2):c.3597T>C (p.Ile1199=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2714946	NM_014244.5(ADAMTS2):c.3594C>T (p.Leu1198=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 2438862	NM_014244.5(ADAMTS2):c.3592C>T (p.Leu1198Phe)	ADAMTS2 (L1198F)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 2704646	NM_014244.5(ADAMTS2):c.3591G>A (p.Glu1197=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign

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