"Baylor Genetics"[submitter] AND "ADAMTS2"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1030311	NM_014244.5(ADAMTS2):c.3140G>A (p.Arg1047His)	ADAMTS2 (R1047H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
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 1032613	NM_014244.5(ADAMTS2):c.2826C>T (p.Cys942=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 967882	NM_014244.5(ADAMTS2):c.2086-3C>T	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 1030310	NM_014244.5(ADAMTS2):c.1288C>T (p.Arg430Trp)	ADAMTS2 (R430W)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type +2 more	GUncertain significance
Select item 678955	NM_014244.5(ADAMTS2):c.139+4G>A	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GConflicting classifications of pathogenicity
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic
Select item 625655	GRCh37/hg19 5q35.3(chr5:177776148-180687012)	ADAMTS2, BTNL3 +43 more	Copy number loss	not provided	GLikely pathogenic