"ADAMTS2-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 512802	NM_014244.5(ADAMTS2):c.3607C>T (p.Arg1203Trp)	ADAMTS2 (R1203W)	Single nucleotide variant (missense variant)	ADAMTS2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 353085	NM_014244.5(ADAMTS2):c.3480C>A (p.Ala1160=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type +2 more	GBenign
Select item 1121671	NM_014244.5(ADAMTS2):c.3339C>T (p.His1113=)	ADAMTS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 707509	NM_014244.5(ADAMTS2):c.3060G>A (p.Ala1020=)	ADAMTS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1112767	NM_014244.5(ADAMTS2):c.2958+7A>G	ADAMTS2	Single nucleotide variant (intron variant)	ADAMTS2-related disorder +1 more	GLikely benign
Select item 469674	NM_014244.5(ADAMTS2):c.2893G>A (p.Glu965Lys)	ADAMTS2 (E965K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type +3 more	GConflicting classifications of pathogenicity
Select item 774640	NM_014244.5(ADAMTS2):c.2865C>T (p.His955=)	ADAMTS2	Single nucleotide variant (synonymous variant)	ADAMTS2-related disorder +1 more	GLikely benign
Select item 989942	NM_014244.5(ADAMTS2):c.2633A>G (p.Lys878Arg)	ADAMTS2 (K878R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 353104	NM_014244.5(ADAMTS2):c.2439C>T (p.His813=)	ADAMTS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 353106	NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=)	ADAMTS2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 353112	NM_014244.5(ADAMTS2):c.2109C>T (p.Ile703=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type +2 more	GConflicting classifications of pathogenicity
Select item 967882	NM_014244.5(ADAMTS2):c.2086-3C>T	ADAMTS2	Single nucleotide variant (intron variant)	ADAMTS2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 537404	NM_014244.5(ADAMTS2):c.2034G>A (p.Thr678=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GLikely benign
Select item 1082935	NM_014244.5(ADAMTS2):c.1998G>A (p.Glu666=)	ADAMTS2	Single nucleotide variant (synonymous variant)	ADAMTS2-related disorder +2 more	GLikely benign
Select item 3057838	NM_014244.5(ADAMTS2):c.1952-9C>A	ADAMTS2	Single nucleotide variant (intron variant)	ADAMTS2-related disorder	GLikely benign
Select item 353118	NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His)	ADAMTS2 (R628H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type +4 more	GConflicting classifications of pathogenicity
Select item 1634546	NM_014244.5(ADAMTS2):c.1689C>T (p.Ser563=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GLikely benign
Select item 1212924	NM_014244.5(ADAMTS2):c.1629+1008G>A	ADAMTS2 (A566T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3058696	NM_014244.5(ADAMTS2):c.1629+956G>A	ADAMTS2	Single nucleotide variant (synonymous variant +1 more)	ADAMTS2-related disorder	GLikely benign
Select item 1135674	NM_014244.5(ADAMTS2):c.1419C>T (p.His473=)	ADAMTS2	Single nucleotide variant (synonymous variant)	ADAMTS2-related disorder +1 more	GLikely benign
Select item 1094727	NM_014244.5(ADAMTS2):c.1236C>T (p.His412=)	ADAMTS2	Single nucleotide variant (synonymous variant)	ADAMTS2-related disorder +1 more	GLikely benign
Select item 1080912	NM_014244.5(ADAMTS2):c.1209G>A (p.Ala403=)	ADAMTS2	Single nucleotide variant (synonymous variant)	ADAMTS2-related disorder +2 more	GLikely benign
Select item 469660	NM_014244.5(ADAMTS2):c.1149C>T (p.Thr383=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type +2 more	GConflicting classifications of pathogenicity
Select item 1096348	NM_014244.5(ADAMTS2):c.1098C>T (p.Leu366=)	ADAMTS2	Single nucleotide variant (synonymous variant)	ADAMTS2-related disorder +1 more	GLikely benign
Select item 1604714	NM_014244.5(ADAMTS2):c.804C>T (p.Ile268=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GLikely benign
Select item 353132	NM_014244.5(ADAMTS2):c.764G>A (p.Arg255Gln)	ADAMTS2 (R255Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type +3 more	GBenign/Likely benign
Select item 1672516	NM_014244.5(ADAMTS2):c.672A>G (p.Pro224=)	ADAMTS2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 682202	NM_014244.5(ADAMTS2):c.651G>A (p.Thr217=)	ADAMTS2	Single nucleotide variant (synonymous variant)	ADAMTS2-related disorder +2 more	GLikely benign
Select item 1083786	NM_014244.5(ADAMTS2):c.588G>A (p.Lys196=)	ADAMTS2	Single nucleotide variant (synonymous variant)	ADAMTS2-related disorder +2 more	GLikely benign
Select item 537400	NM_014244.5(ADAMTS2):c.423C>T (p.Gly141=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type +2 more	GConflicting classifications of pathogenicity
Select item 566194	NM_014244.5(ADAMTS2):c.260G>T (p.Arg87Leu)	ADAMTS2 (R87L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 291050	NM_014244.5(ADAMTS2):c.94C>T (p.Pro32Ser)	ADAMTS2 (P32S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 537401	NM_014244.5(ADAMTS2):c.71CGC[4] (p.Pro26dup)	ADAMTS2	Microsatellite (inframe_insertion)	Ehlers-Danlos syndrome, dermatosparaxis type +3 more	GUncertain significance
Select item 3046200	NM_014244.5(ADAMTS2):c.-4T>A	ADAMTS2	Single nucleotide variant (5 prime UTR variant)	ADAMTS2-related disorder	GLikely benign

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Items: 34