"Ambry Genetics"[submitter] AND "THBS2-AS1"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2396795	NM_003247.5(THBS2):c.3514A>G (p.Ile1172Val)	THBS2-AS1, THBS2 (I1114V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2622278	NM_003247.5(THBS2):c.3286T>G (p.Trp1096Gly)	THBS2, THBS2-AS1 (W1096G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282939	NM_003247.5(THBS2):c.3166C>T (p.Arg1056Trp)	THBS2-AS1, THBS2 (R1056W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402294	NM_003247.5(THBS2):c.3082G>A (p.Val1028Ile)	THBS2-AS1, THBS2 (V951I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516757	NM_003247.5(THBS2):c.3010G>A (p.Glu1004Lys)	THBS2, THBS2-AS1 (E1004K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536494	NM_003247.5(THBS2):c.2978A>G (p.Asn993Ser)	THBS2, THBS2-AS1 (N916S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403460	NM_003247.5(THBS2):c.2680G>A (p.Asp894Asn)	THBS2, THBS2-AS1 (D836N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224193	NM_003247.5(THBS2):c.2644G>A (p.Ala882Thr)	THBS2-AS1, THBS2 (A805T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2362593	NM_003247.5(THBS2):c.2591T>C (p.Ile864Thr)	THBS2-AS1, THBS2 (I787T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457638	NM_003247.5(THBS2):c.2584G>A (p.Glu862Lys)	THBS2, THBS2-AS1 (E785K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276399	NM_003247.5(THBS2):c.2545G>A (p.Val849Met)	THBS2-AS1, THBS2 (V849M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2492101	NM_003247.5(THBS2):c.2324G>A (p.Arg775His)	THBS2, THBS2-AS1 (R698H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304775	NM_003247.5(THBS2):c.2129A>G (p.Asn710Ser)	THBS2, THBS2-AS1 (N633S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2521375	NM_003247.5(THBS2):c.2116G>T (p.Val706Phe)	THBS2, THBS2-AS1 (V629F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317164	NM_003247.5(THBS2):c.2053G>A (p.Ala685Thr)	THBS2-AS1, THBS2 (A627T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487780	NM_003247.5(THBS2):c.2035G>A (p.Glu679Lys)	THBS2, THBS2-AS1 (E621K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297347	NM_003247.5(THBS2):c.1883G>T (p.Gly628Val)	THBS2-AS1, THBS2 (G570V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264648	NM_003247.5(THBS2):c.1705G>T (p.Asp569Tyr)	THBS2, THBS2-AS1 (D511Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553633	NM_003247.5(THBS2):c.1679C>T (p.Pro560Leu)	THBS2, THBS2-AS1 (P483L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507620	NM_003247.5(THBS2):c.1600G>A (p.Val534Met)	THBS2, THBS2-AS1 (V457M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2549400	NM_003247.5(THBS2):c.1544G>A (p.Arg515Gln)	THBS2, THBS2-AS1 (R438Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2263409	NM_003247.5(THBS2):c.1505C>T (p.Pro502Leu)	THBS2, THBS2-AS1 (P425L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2487427	NM_003247.5(THBS2):c.1411A>G (p.Met471Val)	THBS2, THBS2-AS1 (M471V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251514	NM_003247.5(THBS2):c.1228G>C (p.Val410Leu)	THBS2, THBS2-AS1 (V410L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 24