ClinVar for MedGen (Select 349530) - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582633	NM_003239.5(TGFB3):c.997G>A (p.Val333Ile)	TGFB3 (V333I)	Single nucleotide variant (missense variant)	Rienhoff syndrome +1 more	GUncertain significance
Select item 2500099	NM_003239.5(TGFB3):c.352+124C>G	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome +1 more	GUncertain significance
Select item 1394740	NM_003239.5(TGFB3):c.230G>A (p.Arg77Gln)	TGFB3 (R77Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 1302541	NM_003239.5(TGFB3):c.260G>T (p.Arg87Met)	TGFB3 (R87M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1140861	NM_003239.5(TGFB3):c.353-14_353-10del	TGFB3	Deletion (intron variant)	TGFB3-related disorder +2 more	GLikely benign
Select item 1031323	NM_003239.5(TGFB3):c.411del (p.Ser138fs)	TGFB3 (S138fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 1	GPathogenic
Select item 978331	NM_001005242.3(PKP2):c.1926T>A (p.Tyr642Ter)	PKP2 (Y642* +1 more)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 1 +1 more	GPathogenic/Likely pathogenic
Select item 978281	NM_001005242.3(PKP2):c.2358-2A>G	PKP2	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic right ventricular dysplasia 1	GLikely pathogenic
Select item 978277	NM_024422.6(DSC2):c.1913_1916del (p.Gln638fs)	DSC2 (Q638fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 1 +1 more	GConflicting classifications of pathogenicity
Select item 850777	NM_003239.5(TGFB3):c.850C>T (p.Pro284Ser)	TGFB3 (P284S)	Single nucleotide variant (missense variant)	Rienhoff syndrome +1 more	GUncertain significance
Select item 807144	NM_003239.5(TGFB3):c.756C>T (p.Gly252=)	TGFB3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 698403	NM_003239.5(TGFB3):c.591C>T (p.Ala197=)	TGFB3	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 665993	NM_003239.5(TGFB3):c.325G>A (p.Asp109Asn)	TGFB3 (D109N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 645724	NM_001267550.2(TTN):c.88825C>T (p.Arg29609Ter)	TTN, TTN-AS1 (R20544* +5 more)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 1 +4 more	GPathogenic/Likely pathogenic
Select item 640810	NM_003239.5(TGFB3):c.1219A>G (p.Lys407Glu)	TGFB3 (K407E)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 637043	NM_003239.5(TGFB3):c.785G>T (p.Gly262Val)	TGFB3 (G262V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 1	GUncertain significance
Select item 634815	NM_201384.3(PLEC):c.2354C>G (p.Ala785Gly)	PLEC (A753G +6 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 1	GUncertain significance
Select item 634814	NM_201384.3(PLEC):c.11617C>G (p.Leu3873Val)	PLEC (L3841V +6 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 1	GLikely benign
Select item 618427	NM_003239.5(TGFB3):c.859C>T (p.Arg287Trp)	TGFB3 (R287W)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 579921	NM_003239.5(TGFB3):c.101A>G (p.His34Arg)	TGFB3 (H34R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 1 +3 more	GLikely benign
Select item 579759	NM_003239.5(TGFB3):c.235C>G (p.Leu79Val)	TGFB3 (L79V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 1 +2 more	GUncertain significance
Select item 579100	NM_003239.5(TGFB3):c.1A>G (p.Met1Val)	TGFB3 (M1V)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 1 +2 more	GUncertain significance
Select item 575813	NM_003239.5(TGFB3):c.464G>A (p.Arg155Gln)	TGFB3 (R155Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 1 +2 more	GUncertain significance
Select item 573758	NM_003239.5(TGFB3):c.908A>C (p.Asp303Ala)	TGFB3 (D303A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 1 +1 more	GUncertain significance
Select item 566598	NM_003239.5(TGFB3):c.757G>A (p.Val253Met)	TGFB3 (V253M)	Single nucleotide variant (missense variant)	Rienhoff syndrome +3 more	GUncertain significance
Select item 543955	NM_003239.5(TGFB3):c.463C>T (p.Arg155Trp)	TGFB3 (R155W)	Single nucleotide variant (missense variant)	Rienhoff syndrome +3 more	GConflicting classifications of pathogenicity
Select item 534294	NM_004415.4(DSP):c.3774C>A (p.Asp1258Glu)	DSP (D1258E)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 520206	NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs)	TGFB3 (L368fs)	Deletion (frameshift variant)	Rienhoff syndrome +2 more	GPathogenic/Likely pathogenic
Select item 487471	NM_003239.5(TGFB3):c.927-1G>C	TGFB3	Single nucleotide variant (splice acceptor variant)	Rienhoff syndrome +1 more	GLikely pathogenic
Select item 450035	NM_003239.5(TGFB3):c.1169A>T (p.Tyr390Phe)	TGFB3 (Y390F)	Single nucleotide variant (missense variant)	Rienhoff syndrome +3 more	GUncertain significance
Select item 410276	NM_003239.5(TGFB3):c.965T>C (p.Ile322Thr)	TGFB3 (I322T)	Single nucleotide variant (missense variant)	Rienhoff syndrome +3 more	GConflicting classifications of pathogenicity
Select item 410274	NM_003239.5(TGFB3):c.872C>T (p.Pro291Leu)	TGFB3 (P291L)	Single nucleotide variant (missense variant)	Rienhoff syndrome +3 more	GUncertain significance
Select item 410273	NM_003239.5(TGFB3):c.488G>A (p.Arg163Gln)	TGFB3 (R163Q)	Single nucleotide variant (missense variant)	Rienhoff syndrome +4 more	GConflicting classifications of pathogenicity
Select item 410271	NM_003239.5(TGFB3):c.580C>T (p.Arg194Trp)	TGFB3 (R194W)	Single nucleotide variant (missense variant)	Rienhoff syndrome +3 more	GUncertain significance
Select item 410270	NM_003239.5(TGFB3):c.97G>A (p.Gly33Ser)	TGFB3 (G33S)	Single nucleotide variant (missense variant)	Rienhoff syndrome +3 more	GUncertain significance
Select item 410269	NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter)	TGFB3 (S345*)	Single nucleotide variant (nonsense)	Rienhoff syndrome +4 more	GPathogenic/Likely pathogenic
Select item 406548	NM_001005242.3(PKP2):c.1760A>G (p.Tyr587Cys)	PKP2 (Y631C +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 1 +4 more	GUncertain significance
Select item 392089	NM_003239.5(TGFB3):c.77C>G (p.Thr26Ser)	TGFB3 (T26S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 326474	NM_001943.5(DSG2):c.269C>T (p.Thr90Ile)	DSG2 (T90I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +5 more	GConflicting classifications of pathogenicity
Select item 314461	NM_003239.5(TGFB3):c.-547dup	TGFB3	Duplication (5 prime UTR variant)	Rienhoff syndrome +2 more	GUncertain significance
Select item 314459	NM_003239.5(TGFB3):c.-536del	TGFB3	Deletion (5 prime UTR variant)	Rienhoff syndrome +2 more	GUncertain significance
Select item 314457	NM_003239.5(TGFB3):c.-440CTT[2]	TGFB3	Microsatellite (5 prime UTR variant)	Rienhoff syndrome +2 more	GUncertain significance
Select item 314454	NM_003239.5(TGFB3):c.294G>A (p.Ser98=)	TGFB3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 239523	NM_003239.5(TGFB3):c.82A>C (p.Thr28Pro)	TGFB3 (T28P)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 239517	NM_003239.5(TGFB3):c.179C>T (p.Thr60Met)	TGFB3 (T60M)	Single nucleotide variant (missense variant)	not provided +4 more	GLikely benign
Select item 226037	NM_001035.3(RYR2):c.4196C>A (p.Thr1399Lys)	RYR2 (T1399K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 1	GUncertain significance
Select item 202444	NM_133378.4(TTN):c.37385_37387delAAG	LOC126806427, TTN	Microsatellite (splice acceptor variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 201252	NM_001035.3(RYR2):c.4912T>A (p.Ser1638Thr)	RYR2 (S1638T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GUncertain significance
Select item 201209	NM_001035.3(RYR2):c.1144G>A (p.Val382Met)	RYR2 (V382M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 196822	NM_201384.3(PLEC):c.8051G>A (p.Arg2684Gln)	PLEC (R2652Q +6 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 196764	NM_201384.3(PLEC):c.5471C>T (p.Ala1824Val)	PLEC (A1792V +6 more)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 196720	NM_201384.3(PLEC):c.5390G>A (p.Arg1797His)	PLEC (R1765H +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +6 more	GUncertain significance
Select item 191779	NM_003239.5(TGFB3):c.487C>T (p.Arg163Trp)	TGFB3 (R163W)	Single nucleotide variant (missense variant)	Rienhoff syndrome +4 more	GUncertain significance
Select item 191778	NM_003239.5(TGFB3):c.559G>A (p.Gly187Ser)	TGFB3 (G187S)	Single nucleotide variant (missense variant)	Rienhoff syndrome +3 more	GUncertain significance
Select item 188467	NM_004415.4(DSP):c.5063C>T (p.Ala1688Val)	DSP (A1688V)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 167508	NM_201384.3(PLEC):c.5476C>T (p.Arg1826Trp)	PLEC (R1794W +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5B, with muscular dystrophy +7 more	GBenign/Likely benign
Select item 161222	NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala)	DSC2 (T340A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 130665	NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3])	TTN	Microsatellite (inframe_deletion +1 more)	TTN-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 44319	NM_001943.5(DSG2):c.473T>G (p.Val158Gly)	DSG2 (V158G)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GBenign/Likely benign
Select item 42506	NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp)	MYBPC3 (R382W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 36601	NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys)	MYBPC3 (E441K)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +7 more	GConflicting classifications of pathogenicity
Select item 36009	NM_001943.5(DSG2):c.1174G>A (p.Val392Ile)	DSG2 (V392I)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 12475	NM_003239.5(TGFB3):c.*495C>T	TGFB3	Single nucleotide variant (3 prime UTR variant)	Rienhoff syndrome +1 more	GUncertain significance
Select item 12474	NM_003239.5(TGFB3):c.-30G>A	TGFB3	Single nucleotide variant (5 prime UTR variant)	Rienhoff syndrome +2 more	GUncertain significance

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Items: 64