C2674574[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 344646	NM_003242.5(TGFBR2):c.-371A>C	TGFBR2	Single nucleotide variant (genic upstream transcript variant +1 more)	Diabetic retinopathy +5 more	GConflicting classifications of pathogenicity
Select item 1001410	NM_003242.6(TGFBR2):c.-337T>A	TGFBR2	Single nucleotide variant (genic upstream transcript variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 6 +4 more	GUncertain significance/Uncertain risk allele
Select item 344648	NM_003242.5(TGFBR2):c.-307C>T	TGFBR2	Single nucleotide variant (genic upstream transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GConflicting classifications of pathogenicity
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 920747	NM_003242.6(TGFBR2):c.1A>G (p.Met1Val)	TGFBR2 (M1V)	Single nucleotide variant (missense variant +1 more)	Diabetic retinopathy +4 more	GUncertain significance/Uncertain risk allele
Select item 858705	NM_003242.6(TGFBR2):c.76C>T (p.Pro26Ser)	TGFBR2 (P26S)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +5 more	GUncertain significance/Uncertain risk allele
Select item 43689	NM_003242.6(TGFBR2):c.94+16238C>T	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	Diabetic retinopathy +6 more	GBenign/Likely benign
Select item 213913	NM_003242.6(TGFBR2):c.94+16293C>A	TGFBR2 (H56N +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 6 +5 more	GConflicting classifications of pathogenicity
Select item 408434	NM_003242.6(TGFBR2):c.95-3C>A	TGFBR2	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2 +5 more	GConflicting classifications of pathogenicity
Select item 239526	NM_003242.6(TGFBR2):c.116C>A (p.Thr39Asn)	TGFBR2 (T39N +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GUncertain significance/Uncertain risk allele
Select item 408442	NM_003242.6(TGFBR2):c.215G>A (p.Ser72Asn)	TGFBR2 (S72N +3 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +5 more	GConflicting classifications of pathogenicity
Select item 378728	NM_003242.6(TGFBR2):c.263+17A>C	TGFBR2	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2 +4 more	GBenign/Likely benign
Select item 927079	NM_003242.6(TGFBR2):c.340G>C (p.Glu114Gln)	TGFBR2 (E139Q +3 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +4 more	GUncertain significance/Uncertain risk allele
Select item 662321	NM_003242.6(TGFBR2):c.383dup (p.Pro129fs)	TGFBR2 (P129fs +1 more)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance
Select item 213915	NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly)	TGFBR2 (C138G +3 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +5 more	GConflicting classifications of pathogenicity
Select item 1677587	NM_003242.6(TGFBR2):c.568C>G (p.Arg190Gly)	TGFBR2 (R190G +8 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +3 more	GUncertain significance
Select item 403531	NM_003242.6(TGFBR2):c.569G>A (p.Arg190His)	TGFBR2 (R190H +8 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +5 more	GUncertain significance
Select item 137635	NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile)	TGFBR2 (V216I +8 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign/Likely benign
Select item 628340	NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln)	TGFBR2 (R232Q +8 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +6 more	GConflicting classifications of pathogenicity
Select item 213942	NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys)	TGFBR2 (R254C +8 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 1363915	NM_003242.6(TGFBR2):c.797A>G (p.Asn266Ser)	TGFBR2 (N266S +8 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 919917	NM_003242.6(TGFBR2):c.803C>T (p.Ser268Leu)	TGFBR2 (S293L +8 more)	Single nucleotide variant (missense variant)	Malignant tumor of esophagus +3 more	GUncertain significance
Select item 449834	NM_003242.6(TGFBR2):c.913C>T (p.Leu305Phe)	TGFBR2 (L305F +8 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 263881	NM_003242.6(TGFBR2):c.927G>A (p.Thr309=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 547811	NM_003242.6(TGFBR2):c.928G>A (p.Ala310Thr)	TGFBR2 (A310T +8 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 567942	NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln)	TGFBR2 (R338Q +8 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 252506	NM_003242.6(TGFBR2):c.967C>G (p.Leu323Val)	TGFBR2 (L348V +8 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +5 more	GUncertain significance
Select item 374980	NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)	TGFBR2 (R364W +8 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 408436	NM_003242.6(TGFBR2):c.1126G>A (p.Val376Met)	TGFBR2 (V401M +8 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance
Select item 263878	NM_003242.6(TGFBR2):c.1153A>G (p.Ile385Val)	TGFBR2 (I385V +8 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +5 more	GUncertain significance
Select item 263867	NM_003242.6(TGFBR2):c.1207C>T (p.Arg403Cys)	TGFBR2 (R428C +8 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 213908	NM_003242.6(TGFBR2):c.1208G>A (p.Arg403His)	TGFBR2 (R403H +8 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GLikely benign
Select item 920545	NM_003242.6(TGFBR2):c.1316T>C (p.Val439Ala)	TGFBR2 (V464A +8 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +3 more	GUncertain significance
Select item 477540	NM_003242.6(TGFBR2):c.1436G>A (p.Arg479Gln)	TGFBR2 (R479Q +10 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +4 more	GUncertain significance
Select item 263413	NM_003242.6(TGFBR2):c.1458C>T (p.Ser486=)	TGFBR2	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 2 +5 more	GBenign/Likely benign
Select item 12519	NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)	TGFBR2 (R495* +10 more)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic
Select item 408435	NM_003242.6(TGFBR2):c.1547C>T (p.Thr516Met)	TGFBR2 (T516M +10 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +3 more	GUncertain significance
Select item 408441	NM_003242.6(TGFBR2):c.1643C>T (p.Ser548Leu)	TGFBR2 (S548L +10 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +5 more	GUncertain significance
Select item 496207	NM_003242.6(TGFBR2):c.1645G>T (p.Gly549Trp)	TGFBR2 (G549W +10 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +4 more	GUncertain significance
Select item 344671	NM_003242.6(TGFBR2):c.*328A>C	TGFBR2	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GUncertain significance

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Items: 40