"PreventionGenetics, part of Exact Sciences"[submitter] AND "THBS2"[ge - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3042615	NM_003247.5(THBS2):c.*2C>T	THBS2, THBS2-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	THBS2-related disorder	GLikely benign
Select item 787843	NM_003247.5(THBS2):c.3441C>T (p.Gly1147=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3060730	NM_003247.5(THBS2):c.3360T>C (p.Thr1120=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +1 more)	THBS2-related disorder	GBenign
Select item 3034072	NM_003247.5(THBS2):c.3266C>T (p.Pro1089Leu)	THBS2, THBS2-AS1 (P1012L +2 more)	Single nucleotide variant (missense variant +1 more)	THBS2-related disorder	GBenign
Select item 3058815	NM_003247.5(THBS2):c.3183C>T (p.Ser1061=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +1 more)	THBS2-related disorder	GLikely benign
Select item 3059272	NM_003247.5(THBS2):c.3075C>T (p.Ala1025=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +1 more)	THBS2-related disorder	GBenign
Select item 3044894	NM_003247.5(THBS2):c.3074C>T (p.Ala1025Val)	THBS2, THBS2-AS1 (A1025V +2 more)	Single nucleotide variant (missense variant +1 more)	THBS2-related disorder	GBenign
Select item 3043380	NM_003247.5(THBS2):c.2718C>T (p.Pro906=)	LOC126859908, THBS2 +1 more	Single nucleotide variant (synonymous variant +1 more)	THBS2-related disorder	GBenign
Select item 3046149	NM_003247.5(THBS2):c.2488G>A (p.Gly830Ser)	THBS2, THBS2-AS1 (G753S +2 more)	Single nucleotide variant (missense variant +1 more)	THBS2-related disorder	GBenign
Select item 3040909	NM_003247.5(THBS2):c.2250C>G (p.Thr750=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +1 more)	THBS2-related disorder	GLikely benign
Select item 3043551	NM_003247.5(THBS2):c.2229C>T (p.Asp743=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +1 more)	THBS2-related disorder	GLikely benign
Select item 3041153	NM_003247.5(THBS2):c.2203G>A (p.Gly735Arg)	THBS2, THBS2-AS1 (G658R +2 more)	Single nucleotide variant (missense variant +1 more)	THBS2-related disorder	GLikely benign
Select item 3059455	NM_003247.5(THBS2):c.2152-9C>T	THBS2, THBS2-AS1	Single nucleotide variant (intron variant)	THBS2-related disorder	GBenign
Select item 3059911	NM_003247.5(THBS2):c.2007C>T (p.Gly669=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +1 more)	THBS2-related disorder	GBenign
Select item 3056067	NM_003247.5(THBS2):c.1584C>T (p.Tyr528=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +2 more)	THBS2-related disorder	GBenign
Select item 12713	NM_003247.5(THBS2):c.1478-8C>T	THBS2, THBS2-AS1	Single nucleotide variant (intron variant)	THBS2-related disorder	GBenign
Select item 3058979	NM_003247.5(THBS2):c.1257C>G (p.Ser419=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +1 more)	THBS2-related disorder	GBenign
Select item 3059518	NM_003247.5(THBS2):c.1173C>T (p.Thr391=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +1 more)	THBS2-related disorder	GBenign
Select item 3035373	NM_003247.5(THBS2):c.1129+9C>T	THBS2	Single nucleotide variant (intron variant)	THBS2-related disorder	GLikely benign
Select item 776187	NM_003247.5(THBS2):c.1077C>A (p.Thr359=)	THBS2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3033637	NM_003247.5(THBS2):c.893C>T (p.Ser298Leu)	LOC126859909, THBS2 (S221L +1 more)	Single nucleotide variant (missense variant +1 more)	THBS2-related disorder	GBenign
Select item 3056459	NM_003247.5(THBS2):c.777G>A (p.Ser259=)	THBS2	Single nucleotide variant (synonymous variant +1 more)	THBS2-related disorder	GBenign
Select item 3040957	NM_003247.5(THBS2):c.757G>A (p.Glu253Lys)	THBS2 (E176K +1 more)	Single nucleotide variant (missense variant +1 more)	THBS2-related disorder	GLikely benign
Select item 778928	NM_003247.5(THBS2):c.694+10T>A	THBS2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3048185	NM_003247.5(THBS2):c.459C>T (p.Thr153=)	THBS2	Single nucleotide variant (synonymous variant +1 more)	THBS2-related disorder	GLikely benign
Select item 3060578	NM_003247.5(THBS2):c.354C>T (p.Asn118=)	THBS2	Single nucleotide variant (synonymous variant +1 more)	THBS2-related disorder	GBenign

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Items: 26