Related gene-specific medical variations for Gene (Select 7048) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362405	NM_003242.6(TGFBR2):c.1595A>G (p.Gln532Arg)	TGFBR2 (Q242R +10 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3246946	NC_000003.11:g.(?_30648376)_(30733091_?)dup	TGFBR2	Duplication	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3220877	NM_003242.6(TGFBR2):c.-195G>C	LOC129936399, TGFBR2	Single nucleotide variant (5 prime UTR variant +1 more)	Diabetic retinopathy	GUncertain risk allele
Select item 2683925	NM_003242.6(TGFBR2):c.1049T>A (p.Leu350Gln)	TGFBR2 (L230Q +8 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GLikely pathogenic
Select item 2437070	NM_003242.6(TGFBR2):c.1613T>C (p.Phe538Ser)	TGFBR2 (F248S +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696507	NM_003242.6(TGFBR2):c.95-3679C>A	TGFBR2	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 1679651	NM_003242.6(TGFBR2):c.1386T>G (p.Asn462Lys)	TGFBR2 (N462K +8 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 901873	NM_003242.6(TGFBR2):c.-122T>G	LOC129936399, TGFBR2	Single nucleotide variant (5 prime UTR variant)	Diabetic retinopathy +1 more	GConflicting classifications of pathogenicity
Select item 901872	NM_003242.6(TGFBR2):c.-195G>A	LOC129936399, TGFBR2	Single nucleotide variant (5 prime UTR variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 687843	GRCh37/hg19 3p24.1(chr3:30684776-30698392)x1	TGFBR2	Copy number loss	not provided	GUncertain significance
Select item 687755	GRCh37/hg19 3p24.1(chr3:30684776-30698392)x1	TGFBR2	Copy number loss	not provided	GUncertain significance
Select item 636625	NM_003242.6(TGFBR2):c.1134G>T (p.Arg378Ser)	TGFBR2 (R378S +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636559	NM_003242.6(TGFBR2):c.1215C>G (p.Asp405Glu)	TGFBR2 (D405E +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636367	NM_003242.6(TGFBR2):c.1267_1269dup (p.Arg423_Tyr424insArg)	TGFBR2	Duplication (inframe_indel +1 more)	not provided	GUncertain significance
Select item 344654	NM_003242.6(TGFBR2):c.-117G>A	LOC129936399, TGFBR2	Single nucleotide variant (5 prime UTR variant)	Marfan syndrome +3 more	GConflicting classifications of pathogenicity
Select item 344653	NM_003242.6(TGFBR2):c.-128C>G	LOC129936399, TGFBR2	Single nucleotide variant (5 prime UTR variant)	Diabetic retinopathy +4 more	GBenign/Likely benign
Select item 344652	NM_003242.6(TGFBR2):c.-193G>A	LOC129936399, TGFBR2	Single nucleotide variant (5 prime UTR variant)	Malignant tumor of esophagus +5 more	GUncertain significance/Uncertain risk allele
Select item 259009	NM_003242.6(TGFBR2):c.*11G>A	TGFBR2	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 144849	GRCh38/hg38 3p24.1(chr3:30634639-30638613)x1	TGFBR2	Copy number loss	See cases	GBenign
Select item 60056	GRCh38/hg38 3p24.1(chr3:30638613-30656356)x1	TGFBR2	Copy number loss	See cases	GUncertain significance
Select item 60055	GRCh38/hg38 3p24.1(chr3:30628928-30656356)x1	TGFBR2	Copy number loss	See cases	GUncertain significance
Select item 60054	GRCh38/hg38 3p24.1(chr3:30623003-30666517)x1	TGFBR2	Copy number loss	See cases	GUncertain significance
Select item 57725	GRCh38/hg38 3p24.1(chr3:30623003-30656356)x3	TGFBR2	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 23