"PreventionGenetics, part of Exact Sciences"[submitter] AND "TGFB2"[ge - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 295485	NM_003238.6(TGFB2):c.37C>A (p.His13Asn)	TGFB2 (H13N)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 3058800	NM_003238.6(TGFB2):c.108G>A (p.Arg36=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	TGFB2-related disorder	GLikely benign
Select item 2056261	NM_003238.6(TGFB2):c.174T>G (p.Pro58=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4 +1 more	GLikely benign
Select item 213835	NM_003238.6(TGFB2):c.272G>A (p.Arg91His)	TGFB2 (R91H)	Single nucleotide variant (missense variant +1 more)	Holt-Oram syndrome +5 more	GBenign/Likely benign
Select item 213840	NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu)	TGFB2 (P119L +1 more)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1742459	NM_003238.6(TGFB2):c.468C>T (p.Asn156=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 155837	NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)	TGFB2 (V207L +1 more)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome +5 more	GBenign/Likely benign
Select item 139416	NM_003238.6(TGFB2):c.643+7A>C	TGFB2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +3 more	GBenign/Likely benign
Select item 1121650	NM_003238.6(TGFB2):c.745A>C (p.Arg249=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4 +2 more	GLikely benign
Select item 387890	NM_003238.6(TGFB2):c.747A>G (p.Arg249=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4 +3 more	GLikely benign
Select item 2631372	NM_003238.6(TGFB2):c.758T>C (p.Ile253Thr)	TGFB2 (I253T +1 more)	Single nucleotide variant (missense variant)	TGFB2-related disorder	GUncertain significance
Select item 3052766	NM_003238.6(TGFB2):c.816A>C (p.Lys272Asn)	TGFB2 (K272N +1 more)	Single nucleotide variant (missense variant)	TGFB2-related disorder	GUncertain significance
Select item 2630159	NM_003238.6(TGFB2):c.833C>T (p.Thr278Ile)	TGFB2 (T278I +1 more)	Single nucleotide variant (missense variant)	TGFB2-related disorder +2 more	GUncertain significance
Select item 213845	NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp)	TGFB2 (R299W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 506983	NM_003238.6(TGFB2):c.942G>A (p.Gln314=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	TGFB2-related disorder +3 more	GLikely benign
Select item 259004	NM_003238.6(TGFB2):c.1008C>T (p.His336=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 1087713	NM_003238.6(TGFB2):c.1095C>T (p.Ser365=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	TGFB2-related disorder +1 more	GLikely benign
Select item 213838	NM_003238.6(TGFB2):c.1239C>T (p.Cys413=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign