Related gene-specific medical variations for Gene (Select 9509) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064821	NM_014244.5(ADAMTS2):c.137dup (p.Gly47fs)	ADAMTS2 (G47fs)	Duplication (frameshift variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely pathogenic
Select item 2439900	NM_014244.5(ADAMTS2):c.2316del (p.Lys772fs)	ADAMTS2 (K772fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely pathogenic
Select item 2438863	NM_014244.5(ADAMTS2):c.2275A>G (p.Thr759Ala)	ADAMTS2 (T759A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
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 2438861	NM_014244.5(ADAMTS2):c.2634G>C (p.Lys878Asn)	ADAMTS2 (K878N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 1809013	GRCh37/hg19 5q35.3(chr5:178540656-178865105)x3	ADAMTS2	Copy number gain	not provided	GUncertain significance
Select item 990381	NM_014244.5(ADAMTS2):c.-2C>A	ADAMTS2	Single nucleotide variant (5 prime UTR variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 990380	NM_014244.5(ADAMTS2):c.337G>A (p.Val113Ile)	ADAMTS2 (V113I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 990378	NM_014244.5(ADAMTS2):c.656C>G (p.Pro219Arg)	ADAMTS2 (P219R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 990377	NM_014244.5(ADAMTS2):c.926C>T (p.Ala309Val)	ADAMTS2 (A309V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 989943	NM_014244.5(ADAMTS2):c.2279G>C (p.Ser760Thr)	ADAMTS2 (S760T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 989939	NM_014244.5(ADAMTS2):c.3480C>G (p.Ala1160=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 687709	GRCh37/hg19 5q35.3(chr5:178539399-178868684)x3	ADAMTS2	Copy number gain	not provided	GUncertain significance
Select item 686016	GRCh37/hg19 5q35.3(chr5:178549285-178868684)x3	ADAMTS2	Copy number gain	not provided	GUncertain significance