Related gene-specific medical variations for Gene (Select 7042) - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247814	NC_000001.10:g.(?_218520044)_(218520409_?)dup	TGFB2	Duplication	Loeys-Dietz syndrome 4	GUncertain significance
Select item 3247813	NC_000001.10:g.(?_218607404)_(218614704_?)del	TGFB2	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 3247812	NC_000001.10:g.(?_218578491)_(218614704_?)del	TGFB2	Deletion	Loeys-Dietz syndrome 4	GLikely pathogenic
Select item 3247811	NC_000001.10:g.(?_218520044)_(218520409_?)del	TGFB2	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 2920683	NM_003238.6(TGFB2):c.9del (p.Cys4fs)	TGFB2 (C4fs)	Deletion (frameshift variant +1 more)	Loeys-Dietz syndrome 4	GPathogenic
Select item 2441864	NM_003238.6(TGFB2):c.999A>T (p.Lys333Asn)	TGFB2 (K333N +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 876623	NM_003238.6(TGFB2):c.*1431A>C	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 876622	NM_003238.6(TGFB2):c.*1428T>C	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 876621	NM_003238.6(TGFB2):c.*1389C>T	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 875666	NM_003238.6(TGFB2):c.*2509G>T	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 875623	NM_003238.6(TGFB2):c.*1271A>G	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 875514	NM_003238.6(TGFB2):c.-1237G>C	TGFB2, TGFB2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 875513	NM_003238.6(TGFB2):c.-1249G>A	TGFB2, TGFB2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 874728	NM_003238.6(TGFB2):c.*2496A>G	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 874727	NM_003238.6(TGFB2):c.*2421G>T	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 874726	NM_003238.6(TGFB2):c.*2352T>G	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 873771	NM_003238.6(TGFB2):c.*2007C>T	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 873770	NM_003238.6(TGFB2):c.*1871C>T	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 675714	NM_003238.6(TGFB2):c.-1230G>A	TGFB2, TGFB2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4 +1 more	GBenign/Likely benign
Select item 636492	NM_003238.6(TGFB2):c.346+1G>C	TGFB2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 636392	NM_003238.6(TGFB2):c.294_297dup (p.Ala100fs)	TGFB2 (A100fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 620591	NM_001135599.4:c.595_1245del	TGFB2	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 545671	NM_003238.6(TGFB2):c.1232G>C (p.Cys411Ser)	TGFB2 (C411S +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295534	NM_003238.6(TGFB2):c.*2617T>C	TGFB2-OT1, TGFB2	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295533	NM_003238.6(TGFB2):c.*2564A>G	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 295532	NM_003238.6(TGFB2):c.*2431C>G	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 295531	NM_003238.6(TGFB2):c.2359_2361del	TGFB2-OT1, TGFB2	Deletion (non-coding transcript variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 295530	NM_003238.6(TGFB2):c.2360_2361del	TGFB2, TGFB2-OT1	Deletion (non-coding transcript variant +1 more)	Loeys-Dietz syndrome	GBenign
Select item 295529	NM_003238.6(TGFB2):c.*2361del	TGFB2, TGFB2-OT1	Deletion (non-coding transcript variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 295528	NM_003238.6(TGFB2):c.*2269T>C	TGFB2, TGFB2-OT1	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 295527	NM_003238.6(TGFB2):c.*2188T>C	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 295526	NM_003238.6(TGFB2):c.*2108G>A	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 295525	NM_003238.6(TGFB2):c.*2089A>C	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295524	NM_003238.6(TGFB2):c.*2053G>A	TGFB2, TGFB2-OT1	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295523	NM_003238.6(TGFB2):c.*2008G>A	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 295522	NM_003238.6(TGFB2):c.*1684G>C	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 295521	NM_003238.6(TGFB2):c.*1624T>A	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 295520	NM_003238.6(TGFB2):c.*1615T>C	TGFB2-OT1, TGFB2	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295519	NM_003238.6(TGFB2):c.*1585C>G	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 295518	NM_003238.6(TGFB2):c.*1502T>C	TGFB2, TGFB2-OT1	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 295517	NM_003238.6(TGFB2):c.*1443T>A	TGFB2-OT1, TGFB2	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 295516	NM_003238.6(TGFB2):c.*1338T>A	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295515	NM_003238.6(TGFB2):c.*1315T>G	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 295514	NM_003238.6(TGFB2):c.*1310C>T	TGFB2, TGFB2-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 295513	NM_003238.6(TGFB2):c.*1273T>C	TGFB2, TGFB2-OT1	Single nucleotide variant (3 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 295458	NM_003238.6(TGFB2):c.-1153G>T	TGFB2, TGFB2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295457	NM_003238.6(TGFB2):c.-1271A>G	TGFB2, TGFB2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295456	NM_003238.6(TGFB2):c.-1278AAGAGA[3]	TGFB2, TGFB2-AS1	Microsatellite (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4 +1 more	GUncertain significance
Select item 295455	NM_003238.6(TGFB2):c.-1302A>G	TGFB2, TGFB2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 155940	NM_003238.6(TGFB2):c.932+136C>T	TGFB2	Single nucleotide variant (intron variant)	not provided	Gnot provided

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Links from Gene

Items: 50