"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ADAMTS2"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 537398	NM_014244.5(ADAMTS2):c.3544C>T (p.Arg1182Ter)	ADAMTS2 (R1182*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 1313597	NM_014244.5(ADAMTS2):c.3079C>T (p.Pro1027Ser)	ADAMTS2 (P1027S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1162984	NM_014244.5(ADAMTS2):c.3028G>A (p.Gly1010Ser)	ADAMTS2 (G1010S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GUncertain significance
Select item 970371	NM_014244.5(ADAMTS2):c.2900G>A (p.Arg967His)	ADAMTS2 (R967H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 353094	NM_014244.5(ADAMTS2):c.2834C>T (p.Pro945Leu)	ADAMTS2 (P945L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1137291	NM_014244.5(ADAMTS2):c.2721G>A (p.Ala907=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 537395	NM_014244.5(ADAMTS2):c.2648G>A (p.Arg883Gln)	ADAMTS2 (R883Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 450954	NM_014244.5(ADAMTS2):c.2272G>A (p.Ala758Thr)	ADAMTS2 (A758T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type +1 more	GUncertain significance
Select item 469669	NM_014244.5(ADAMTS2):c.2110G>A (p.Gly704Ser)	ADAMTS2 (G704S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 281712	NM_014244.5(ADAMTS2):c.1629+9G>A	ADAMTS2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1587315	NM_014244.5(ADAMTS2):c.1492C>T (p.Leu498=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 423427	NM_014244.5(ADAMTS2):c.1430C>T (p.Ala477Val)	ADAMTS2 (A477V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1088436	NM_014244.5(ADAMTS2):c.1068C>T (p.His356=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 373235	NM_014244.5(ADAMTS2):c.935A>G (p.Asn312Ser)	ADAMTS2 (N312S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 353137	NM_014244.5(ADAMTS2):c.710A>C (p.Asp237Ala)	ADAMTS2 (D237A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GUncertain significance
Select item 390109	NM_014244.5(ADAMTS2):c.689-18G>A	ADAMTS2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 419919	NM_014244.5(ADAMTS2):c.655C>T (p.Pro219Ser)	ADAMTS2 (P219S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 452231	NM_014244.5(ADAMTS2):c.547C>T (p.Arg183Trp)	ADAMTS2 (R183W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 567521	NM_014244.5(ADAMTS2):c.167G>A (p.Arg56His)	ADAMTS2 (R56H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type +2 more	GUncertain significance
Select item 1394405	NM_014244.5(ADAMTS2):c.102_123dup (p.Ala42fs)	ADAMTS2 (A42fs)	Duplication (frameshift variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GPathogenic/Likely pathogenic
Select item 392232	NM_014244.5(ADAMTS2):c.110C>T (p.Ala37Val)	ADAMTS2 (A37V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1400251	NM_014244.5(ADAMTS2):c.78_101dup (p.Leu27_Pro34dup)	ADAMTS2	Duplication (inframe_insertion)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 646512	NM_014244.5(ADAMTS2):c.80_94del (p.22_26LLPPP[1])	ADAMTS2	Deletion (inframe_deletion)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance

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Items: 23