C2700425[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1724314	NM_014244.5(ADAMTS2):c.2486C>A (p.Ser829Ter)	ADAMTS2 (S829*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely pathogenic
Select item 1725091	NM_014244.5(ADAMTS2):c.1701G>A (p.Trp567Ter)	ADAMTS2 (W567*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, dermatosparaxis type	GPathogenic/Likely pathogenic
Select item 1725590	NM_014244.5(ADAMTS2):c.1377C>A (p.Tyr459Ter)	ADAMTS2 (Y459*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely pathogenic
Select item 1726470	NM_014244.5(ADAMTS2):c.1320_1321insTATAAGAGACAGT (p.Ala441fs)	ADAMTS2 (A441fs)	Insertion (frameshift variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely pathogenic
Select item 1726691	NM_014244.5(ADAMTS2):c.1318C>T (p.Gln440Ter)	ADAMTS2 (Q440*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely pathogenic
Select item 1726951	NM_014244.5(ADAMTS2):c.1315del (p.Val439fs)	ADAMTS2 (V439fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely pathogenic
Select item 1724166	NM_014244.5(ADAMTS2):c.1175del (p.Cys392fs)	ADAMTS2 (C392fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely pathogenic
Select item 1725797	NM_014244.5(ADAMTS2):c.1137T>A (p.Tyr379Ter)	ADAMTS2 (Y379*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely pathogenic
Select item 1726383	NM_014244.5(ADAMTS2):c.985_986insA (p.Leu329fs)	ADAMTS2 (L329fs)	Insertion (frameshift variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely pathogenic
Select item 1726910	NM_014244.5(ADAMTS2):c.928del (p.His310fs)	ADAMTS2 (H310fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely pathogenic
Select item 1724168	NM_014244.5(ADAMTS2):c.693del (p.Ser232fs)	ADAMTS2 (S232fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely pathogenic
Select item 5502	NM_014244.5(ADAMTS2):c.673C>T (p.Gln225Ter)	ADAMTS2 (Q225*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1723970	NM_014244.5(ADAMTS2):c.460_461insAAACTGCAGTGGCCTCT (p.Ser154fs)	ADAMTS2 (S154fs)	Insertion (frameshift variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely pathogenic
Select item 1726136	NM_014244.5(ADAMTS2):c.422dup (p.Glu142fs)	ADAMTS2 (E142fs)	Duplication (frameshift variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely pathogenic
Select item 1726506	NM_014244.5(ADAMTS2):c.386_387insATCGT (p.Leu130fs)	ADAMTS2 (L130fs)	Insertion (frameshift variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely pathogenic
Select item 1726297	NM_014244.5(ADAMTS2):c.265del (p.Ala89fs)	ADAMTS2 (A89fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GPathogenic/Likely pathogenic
Select item 1724357	NM_014244.5(ADAMTS2):c.153dup (p.His52fs)	ADAMTS2 (H52fs)	Duplication (frameshift variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely pathogenic
Select item 1725923	NM_014244.5(ADAMTS2):c.59_63delinsAGCAGCA (p.Leu20fs)	ADAMTS2 (L20fs)	Indel (frameshift variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely pathogenic
Select item 1724851	NM_014244.5(ADAMTS2):c.55_56insACTCAGCAGCACGA (p.Leu19fs)	ADAMTS2 (L19fs)	Insertion (frameshift variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely pathogenic
Select item 1724827	NM_014244.5(ADAMTS2):c.46del (p.Leu16fs)	ADAMTS2 (L16fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely pathogenic
Select item 1724934	NM_014244.5(ADAMTS2):c.28_29insAGATGTGTATA (p.Arg10fs)	ADAMTS2 (R10fs)	Insertion (frameshift variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely pathogenic
Select item 1724612	NM_014244.5(ADAMTS2):c.27_28insTCTTATACACATCTGTG (p.Arg10fs)	ADAMTS2 (R10fs)	Insertion (frameshift variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely pathogenic

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Items: 22