"PreventionGenetics, part of Exact Sciences"[submitter] AND "TGFBR3"[g - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3050337	NM_003243.5(TGFBR3):c.2368A>T (p.Ile790Phe)	TGFBR3 (I789F +1 more)	Single nucleotide variant (missense variant +1 more)	TGFBR3-related disorder	GLikely benign
Select item 3044640	NM_003243.5(TGFBR3):c.2330-3T>C	TGFBR3	Single nucleotide variant (intron variant)	TGFBR3-related disorder	GLikely benign
Select item 547818	NM_003243.5(TGFBR3):c.2329C>T (p.Pro777Ser)	TGFBR3 (P776S +1 more)	Single nucleotide variant (missense variant +1 more)	TGFBR3-related disorder +2 more	GBenign/Likely benign
Select item 777326	NM_003243.5(TGFBR3):c.2293G>C (p.Gly765Arg)	TGFBR3 (G764R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 3060406	NM_003243.5(TGFBR3):c.2247T>C (p.Thr749=)	TGFBR3	Single nucleotide variant (synonymous variant +1 more)	TGFBR3-related disorder	GBenign
Select item 3041819	NM_003243.5(TGFBR3):c.2241G>A (p.Thr747=)	TGFBR3	Single nucleotide variant (synonymous variant +1 more)	TGFBR3-related disorder	GLikely benign
Select item 3059465	NM_003243.5(TGFBR3):c.2028T>C (p.Phe676=)	TGFBR3	Single nucleotide variant (synonymous variant +1 more)	TGFBR3-related disorder	GBenign
Select item 3049234	NM_003243.5(TGFBR3):c.1866+6A>T	TGFBR3	Single nucleotide variant (intron variant)	TGFBR3-related disorder	GLikely benign
Select item 3044142	NM_003243.5(TGFBR3):c.1827C>T (p.Gly609=)	TGFBR3	Single nucleotide variant (synonymous variant +1 more)	TGFBR3-related disorder	GLikely benign
Select item 3040911	NM_003243.5(TGFBR3):c.1770C>T (p.Asn590=)	TGFBR3	Single nucleotide variant (synonymous variant +1 more)	TGFBR3-related disorder	GBenign
Select item 3055456	NM_003243.5(TGFBR3):c.1341C>T (p.Ser447=)	TGFBR3	Single nucleotide variant (synonymous variant +1 more)	TGFBR3-related disorder	GBenign
Select item 3059704	NM_003243.5(TGFBR3):c.1206G>A (p.Pro402=)	TGFBR3	Single nucleotide variant (synonymous variant +1 more)	TGFBR3-related disorder	GBenign
Select item 773411	NM_003243.5(TGFBR3):c.1128C>T (p.Ile376=)	TGFBR3	Single nucleotide variant (synonymous variant +1 more)	TGFBR3-related disorder +1 more	GBenign/Likely benign
Select item 547817	NM_003243.5(TGFBR3):c.1076-16CTT[2]	TGFBR3	Microsatellite (intron variant)	Connective tissue disorder +2 more	GLikely benign
Select item 3041129	NM_003243.5(TGFBR3):c.1051T>A (p.Phe351Ile)	TGFBR3 (F351I)	Single nucleotide variant (missense variant +1 more)	TGFBR3-related disorder	GLikely benign
Select item 3059100	NM_003243.5(TGFBR3):c.519A>G (p.Ser173=)	TGFBR3	Single nucleotide variant (synonymous variant +1 more)	TGFBR3-related disorder	GBenign
Select item 712919	NM_003243.5(TGFBR3):c.464A>G (p.His155Arg)	TGFBR3 (H155R)	Single nucleotide variant (missense variant +1 more)	TGFBR3-related disorder +1 more	GLikely benign
Select item 1276034	NM_003243.5(TGFBR3):c.216A>G (p.Ala72=)	TGFBR3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 547813	NM_003243.5(TGFBR3):c.55A>G (p.Thr19Ala)	TGFBR3 (T19A)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 3060183	NM_003243.5(TGFBR3):c.44C>T (p.Ser15Phe)	TGFBR3 (S15F)	Single nucleotide variant (missense variant +1 more)	TGFBR3-related disorder	GBenign
Select item 3035128	NM_003243.5(TGFBR3):c.41G>A (p.Ser14Asn)	TGFBR3 (S14N)	Single nucleotide variant (missense variant +1 more)	TGFBR3-related disorder	GLikely benign

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Items: 21