ClinVar for MedGen (Select 107792) - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1686306	NM_016373.4(WWOX):c.1056G>C (p.Met352Ile)	WWOX (M239I +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of esophagus	GPathogenic
Select item 1686258	NM_003242.6(TGFBR2):c.1447del (p.Cys483fs)	TGFBR2 (C483fs +1 more)	Deletion (frameshift variant)	Malignant tumor of esophagus	GPathogenic
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 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 1318555	NM_016373.4(WWOX):c.926G>A (p.Arg309His)	WWOX (R196H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +4 more	GUncertain significance
Select item 1202728	NM_003242.6(TGFBR2):c.1490G>A (p.Arg497Gln)	TGFBR2 (R497Q +10 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1187712	NM_016373.4(WWOX):c.107+252C>T	WWOX	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +3 more	GLikely benign
Select item 1031733	NM_007335.4(DLEC1):c.865C>A (p.Pro289Thr)	DLEC1 (P289T)	Single nucleotide variant (missense variant)	Malignant tumor of esophagus	GUncertain significance
Select item 1028591	NM_003242.6(TGFBR2):c.1134G>C (p.Arg378Ser)	TGFBR2 (R378S +8 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic/Likely pathogenic
Select item 1001410	NM_003242.6(TGFBR2):c.-337T>A	TGFBR2	Single nucleotide variant (genic upstream transcript variant +1 more)	Loeys-Dietz syndrome 2 +4 more	GUncertain significance/Uncertain risk allele
Select item 988617	NM_000546.6(TP53):c.576G>C (p.Gln192His)	TP53 (Q153H +3 more)	Single nucleotide variant (missense variant)	Malignant tumor of esophagus	GLikely benign
Select item 984966	NM_000546.6(TP53):c.628_639del (p.Asn210_Arg213del)	TP53	Deletion (inframe_deletion)	Malignant tumor of esophagus	GPathogenic
Select item 930524	NM_003242.6(TGFBR2):c.1355T>C (p.Leu452Pro)	TGFBR2 (L452P +8 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
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 923453	NM_003242.6(TGFBR2):c.505G>C (p.Gly169Arg)	TGFBR2 (G169R +8 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
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 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 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 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 849697	NM_016373.4(WWOX):c.59C>T (p.Pro20Leu)	WWOX (P20L)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +5 more	GUncertain significance
Select item 813767	NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)	WWOX (Q117P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +7 more	GPathogenic/Likely pathogenic
Select item 811253	NM_003242.6(TGFBR2):c.1561T>C (p.Trp521Arg)	TGFBR2 (W521R +10 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic/Likely pathogenic
Select item 804478	NM_016373.4(WWOX):c.108-2A>T	WWOX	Single nucleotide variant (splice acceptor variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +2 more	GLikely pathogenic
Select item 778536	NM_005215.4(DCC):c.2053+9T>C	DCC	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 773345	NM_005215.4(DCC):c.1062C>T (p.Val354=)	DCC	Single nucleotide variant (synonymous variant)	Colorectal cancer +4 more	GBenign/Likely benign
Select item 714873	NM_005215.4(DCC):c.2158C>T (p.Leu720=)	DCC	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 709096	NM_005215.4(DCC):c.91+7G>A	DCC	Single nucleotide variant (intron variant)	Mirror movements 1 +5 more	GBenign
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 662024	NM_016373.4(WWOX):c.746G>A (p.Arg249His)	WWOX (R249H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 28 +4 more	GUncertain significance
Select item 634674	NM_000546.6(TP53):c.298del (p.Gln100fs)	TP53 (Q100fs +1 more)	Deletion (frameshift variant)	Malignant tumor of esophagus	GPathogenic
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 626183	NM_003242.6(TGFBR2):c.1682G>C (p.Gly561Ala)	TGFBR2 (G586A +10 more)	Single nucleotide variant (missense variant)	Malignant tumor of esophagus +2 more	GUncertain significance
Select item 626053	NM_016373.4(WWOX):c.517-108243C>T	WWOX	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +2 more	GUncertain significance
Select item 626031	NM_003242.6(TGFBR2):c.413G>A (p.Cys138Tyr)	TGFBR2 (C163Y +3 more)	Single nucleotide variant (missense variant)	Malignant tumor of esophagus +2 more	GUncertain significance
Select item 578011	NM_016373.4(WWOX):c.935C>A (p.Ser312Tyr)	WWOX (S312Y +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +4 more	GUncertain significance
Select item 570205	NM_016373.4(WWOX):c.1223G>A (p.Arg408Gln)	MAF, WWOX (R408Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 569507	NM_016373.4(WWOX):c.1039C>A (p.Pro347Thr)	WWOX (P347T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +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 559991	NM_000059.4(BRCA2):c.5323G>C (p.Val1775Leu)	BRCA2 (V1775L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely 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 546463	NM_016373.4(WWOX):c.341T>C (p.Met114Thr)	WWOX (M114T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GUncertain significance
Select item 518261	NM_016373.4(WWOX):c.517-108230A>G	WWOX (K182E)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GBenign/Likely benign
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 496206	NM_003242.6(TGFBR2):c.1471G>A (p.Val491Met)	TGFBR2 (V491M +10 more)	Single nucleotide variant (missense variant)	Malignant tumor of esophagus +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 473027	NM_016373.4(WWOX):c.535G>T (p.Ala179Ser)	WWOX (A179S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 28 +4 more	GConflicting classifications of pathogenicity
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 433131	NM_016373.4(WWOX):c.990C>G (p.Asn330Lys)	WWOX (N330K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +4 more	GUncertain significance
Select item 426546	NM_016373.4(WWOX):c.591C>G (p.Phe197Leu)	WWOX (F197L +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of esophagus +4 more	GUncertain significance
Select item 410086	NM_016373.4(WWOX):c.562C>A (p.Arg188Ser)	WWOX (R188S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 409599	NM_000059.4(BRCA2):c.6952C>G (p.Arg2318Gly)	BRCA2 (R2318G)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal carcinoma +6 more	GUncertain significance
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 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 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 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 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 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 383124	NM_016373.4(WWOX):c.1134C>T (p.Asn378=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
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 376617	NM_000546.6(TP53):c.583A>T (p.Ile195Phe)	TP53 (I156F +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 374980	NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)	TGFBR2 (R364W +8 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
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
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 344648	NM_003242.5(TGFBR2):c.-307C>T	TGFBR2	Single nucleotide variant (genic upstream transcript variant +1 more)	Malignant tumor of esophagus +6 more	GConflicting classifications of pathogenicity
Select item 344646	NM_003242.5(TGFBR2):c.-371A>C	TGFBR2	Single nucleotide variant (genic upstream transcript variant +1 more)	Malignant tumor of esophagus +5 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 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 263413	NM_003242.6(TGFBR2):c.1458C>T (p.Ser486=)	TGFBR2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 260740	NM_016373.4(WWOX):c.535G>A (p.Ala179Thr)	WWOX (A179T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +5 more	GBenign
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 241105	NM_016373.4(WWOX):c.790C>T (p.Arg264Ter)	WWOX (R264* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive spinocerebellar ataxia 12 +4 more	GPathogenic
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 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 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 213913	NM_003242.6(TGFBR2):c.94+16293C>A	TGFBR2 (H56N +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 213908	NM_003242.6(TGFBR2):c.1208G>A (p.Arg403His)	TGFBR2 (R403H +8 more)	Single nucleotide variant (missense variant)	Marfan syndrome +7 more	GLikely benign
Select item 137635	NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile)	TGFBR2 (V216I +8 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +6 more	GBenign/Likely benign
Select item 44651	NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)	TGFBR2 (V387M +8 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +9 more	GConflicting classifications of pathogenicity
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 36859	NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)	TGFBR2 (M373I +8 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +9 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 12503	NM_003242.6(TGFBR2):c.1576G>C (p.Glu526Gln)	TGFBR2 (E526Q +10 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 12374	NM_000546.6(TP53):c.524G>A (p.Arg175His)	TP53 (R175H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +15 more	GPathogenic

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Items: 84