ClinVar (all) for Orgtrack (Select 1050) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3772693	NM_005902.4(SMAD3):c.221G>T (p.Arg74Leu)	SMAD3 (R25L +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 2691250	NM_019055.6(ROBO4):c.1650G>A (p.Ala550=)	ROBO4	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 2691249	NM_019055.6(ROBO4):c.1640G>A (p.Arg547Gln)	ROBO4 (R402Q +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2691248	NM_019055.6(ROBO4):c.1639C>T (p.Arg547Trp)	ROBO4 (R402W +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 2691247	NM_019055.6(ROBO4):c.1603T>C (p.Ser535Pro)	ROBO4 (S390P +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2691246	NM_019055.6(ROBO4):c.1570T>C (p.Trp524Arg)	ROBO4 (W379R +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2691245	NM_019055.6(ROBO4):c.1468C>G (p.His490Asp)	ROBO4 (H345D +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 2691244	NM_019055.6(ROBO4):c.1400G>A (p.Arg467Gln)	ROBO4 (R322Q +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2691243	NM_019055.6(ROBO4):c.1150G>A (p.Val384Ile)	ROBO4 (V239I +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 2691242	NM_019055.6(ROBO4):c.103C>T (p.Leu35=)	ROBO4	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 2691241	NM_019055.6(ROBO4):c.102C>A (p.Ile34=)	ROBO4	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 2691240	NM_001134363.3(RBM20):c.928_935dup (p.Gln313fs)	RBM20 (Q313fs)	Duplication (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 2691239	NM_001134363.3(RBM20):c.3441C>T (p.Ser1147=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2691238	NM_001134363.3(RBM20):c.3267del (p.Ile1090fs)	RBM20 (I1090fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1DD +1 more	GUncertain significance
Select item 2691237	NM_001134363.3(RBM20):c.259G>A (p.Ala87Thr)	RBM20 (A87T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2691236	NM_001134363.3(RBM20):c.2053_2056del (p.Glu685fs)	RBM20 (E685fs)	Microsatellite (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 2691235	NM_001134363.3(RBM20):c.1907_1909delinsTTG (p.Arg636_Ser637delinsLeuGly)	RBM20	Indel (missense variant)	Cardiomyopathy	GPathogenic
Select item 2691234	NM_001134363.3(RBM20):c.1107C>T (p.Asn369=)	RBM20	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2691233	NM_000314.8(PTEN):c.545_546dup (p.Lys183Ter)	PTEN (K183* +1 more)	Duplication (nonsense +1 more)	Breast and/or ovarian cancer	GLikely pathogenic
Select item 2691232	NM_016203.4(PRKAG2):c.725T>A (p.Met242Lys)	LOC129999660, PRKAG2 (M118K +6 more)	Single nucleotide variant (missense variant +2 more)	Cardiomyopathy	GUncertain significance
Select item 2691231	NM_000535.7(PMS2):c.1535G>T (p.Gly512Val)	PMS2 (G201V +19 more)	Single nucleotide variant (missense variant +2 more)	Breast and/or ovarian cancer	GUncertain significance
Select item 2691230	NM_001005242.3(PKP2):c.244A>C (p.Ser82Arg)	PKP2 (S82R)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 2691229	NM_024675.4(PALB2):c.2293_2294dup (p.Asp765fs)	PALB2 (D169fs +3 more)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2691228	NM_017617.5(NOTCH1):c.959A>G (p.Asn320Ser)	NOTCH1 (N320S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2691227	NM_017617.5(NOTCH1):c.607C>A (p.Arg203Ser)	NOTCH1 (R203S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2691226	NM_017617.5(NOTCH1):c.4260C>T (p.Phe1420=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2691225	NM_144573.4(NEXN):c.43T>C (p.Ser15Pro)	NEXN (S15P)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 2691224	NM_053025.4(MYLK):c.3684C>T (p.Pro1228=)	MYLK	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2691223	NM_000258.3(MYL3):c.214A>G (p.Thr72Ala)	MYL3 (T14A +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2691222	NM_000257.4(MYH7):c.984G>A (p.Glu328=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2691221	NM_000257.4(MYH7):c.934T>G (p.Phe312Val)	MYH7 (F312V)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2691220	NM_000257.4(MYH7):c.5589G>C (p.Arg1863=)	MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 2691219	NM_000257.4(MYH7):c.4025T>G (p.Leu1342Arg)	MYH7 (L1342R)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2691218	NM_000051.4(ATM):c.7197A>G (p.Gln2399=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Breast and/or ovarian cancer	GLikely benign
Select item 2691217	NM_000257.4(MYH7):c.2502C>T (p.Phe834=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2691216	NM_000257.4(MYH7):c.2479T>C (p.Trp827Arg)	LOC126861898, MYH7 (W827R)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2691215	NM_000257.4(MYH7):c.1763ACA[1] (p.Asn589del)	MYH7 (N589del)	Microsatellite (inframe_deletion)	Cardiomyopathy	GUncertain significance
Select item 2691214	NM_000257.4(MYH7):c.1071G>A (p.Met357Ile)	MYH7 (M357I)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2691213	NM_002474.3(MYH11):c.746A>G (p.Asn249Ser)	MYH11 (N249S +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +1 more	GUncertain significance
Select item 2691212	NM_002474.3(MYH11):c.5452_5453delinsTT (p.Ala1818Leu)	MYH11, NDE1 (A1818L +1 more)	Indel (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2691211	NM_002474.3(MYH11):c.461T>G (p.Ile154Ser)	MYH11 (I154S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2691210	NM_002474.3(MYH11):c.260T>C (p.Val87Ala)	MYH11 (V87A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2691209	NM_002474.3(MYH11):c.1671G>C (p.Gln557His)	MYH11 (Q557H +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2691208	NM_000256.3(MYBPC3):c.93del (p.Glu32fs)	MYBPC3 (E32fs)	Deletion (frameshift variant)	Cardiomyopathy	GLikely pathogenic
Select item 2691207	NM_000256.3(MYBPC3):c.821+9C>T	MYBPC3	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 2691206	NM_000256.3(MYBPC3):c.506-24G>A	MYBPC3	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 2691205	NM_000256.3(MYBPC3):c.2630C>T (p.Ala877Val)	MYBPC3 (A877V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2691204	NM_000256.3(MYBPC3):c.2542del (p.Ala848fs)	MYBPC3 (A848fs)	Deletion (frameshift variant)	Cardiomyopathy	GLikely pathogenic
Select item 2691203	NM_000256.3(MYBPC3):c.2262G>A (p.Lys754=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2691202	NM_000256.3(MYBPC3):c.1625-2A>C	MYBPC3	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy	GPathogenic
Select item 2691201	NM_000256.3(MYBPC3):c.1300T>C (p.Tyr434His)	MYBPC3 (Y434H)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2691200	NM_000256.3(MYBPC3):c.1266_1267insTGAT (p.Ile423Ter)	MYBPC3 (I423*)	Insertion (nonsense)	Cardiomyopathy	GPathogenic
Select item 2691199	NM_000179.3(MSH6):c.636A>G (p.Thr212=)	MSH6	Single nucleotide variant (synonymous variant +3 more)	Breast and/or ovarian cancer +1 more	GLikely benign
Select item 2691198	NM_000051.4(ATM):c.4627A>G (p.Lys1543Glu)	ATM (K1543E)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer	GUncertain significance
Select item 2691197	NM_002317.7(LOX):c.819G>C (p.Gly273=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2691196	NM_002317.7(LOX):c.768T>C (p.Asp256=)	SRFBP1, LOX	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2691195	NM_002317.7(LOX):c.292C>A (p.Arg98Ser)	LOX, SRFBP1 (R98S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2691194	NM_002317.7(LOX):c.1137T>C (p.Ser379=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2691193	NM_170707.4(LMNA):c.957G>A (p.Lys319=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2691192	NM_170707.4(LMNA):c.1032dup (p.Met345fs)	LMNA (M137fs +5 more)	Duplication (frameshift variant)	Cardiomyopathy	GLikely pathogenic
Select item 2691191	NM_002230.4(JUP):c.552G>A (p.Gln184=)	JUP	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2691190	NM_002230.4(JUP):c.532G>A (p.Ala178Thr)	JUP (A178T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2691189	NM_001458.5(FLNC):c.883C>G (p.Pro295Ala)	FLNC (P295A)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2691188	NM_001458.5(FLNC):c.7486del (p.Val2496fs)	FLNC, FLNC-AS1 (V2463fs +1 more)	Deletion (frameshift variant)	Cardiomyopathy	GLikely pathogenic
Select item 2691187	NM_001458.5(FLNC):c.6129G>C (p.Lys2043Asn)	FLNC, FLNC-AS1 (K2010N +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2691186	NM_001458.5(FLNC):c.4288+1G>T	FLNC	Single nucleotide variant (splice donor variant)	Cardiomyopathy	GLikely pathogenic
Select item 2691185	NM_001458.5(FLNC):c.2641+5G>T	FLNC	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 2691184	NM_001458.5(FLNC):c.2312del (p.Gly771fs)	FLNC (G771fs)	Deletion (frameshift variant)	Cardiomyopathy	GLikely pathogenic
Select item 2691183	NM_001458.5(FLNC):c.2168A>G (p.Asp723Gly)	FLNC (D723G)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2691182	NM_001458.5(FLNC):c.179T>C (p.Leu60Pro)	FLNC (L60P)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2691181	NM_001458.5(FLNC):c.129G>A (p.Thr43=)	FLNC	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GLikely benign
Select item 2691180	NM_000138.5(FBN1):c.991del (p.Val331fs)	FBN1, LOC113939944 (V331fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 2691179	NM_000138.5(FBN1):c.878del (p.Ser293fs)	FBN1 (S293fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 2691178	NM_000138.5(FBN1):c.8374del (p.Arg2792fs)	FBN1 (R2792fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 2691177	NM_000138.5(FBN1):c.7425T>G (p.Ile2475Met)	FBN1 (I2475M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2691176	NM_000138.5(FBN1):c.5917+5_5917+29del	FBN1	Deletion (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 2691175	NM_000138.5(FBN1):c.4849dup (p.Cys1617fs)	FBN1 (C1617fs)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 2691174	NM_000138.5(FBN1):c.4330T>C (p.Cys1444Arg)	FBN1, LOC126862124 (C1444R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 2691173	NM_000138.5(FBN1):c.3240C>T (p.Leu1080=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2691172	NM_000138.5(FBN1):c.2009G>C (p.Cys670Ser)	FBN1 (C670S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2691171	NM_000138.5(FBN1):c.1117del (p.Ala373fs)	FBN1, LOC113939944 (A373fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic/Likely pathogenic
Select item 2691170	NM_004415.4(DSP):c.5524A>T (p.Thr1842Ser)	DSP (T1243S +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2691169	NM_004415.4(DSP):c.5320_5321del (p.Gln1774fs)	DSP (Q1774fs)	Deletion (frameshift variant +1 more)	Cardiomyopathy	GLikely pathogenic
Select item 2691168	NM_004415.4(DSP):c.3745C>G (p.Leu1249Val)	DSP (L1249V)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 2691167	NM_004415.4(DSP):c.3451G>T (p.Glu1151Ter)	DSP (E1151*)	Single nucleotide variant (nonsense)	Cardiomyopathy	GLikely pathogenic
Select item 2691166	NM_004415.4(DSP):c.3195C>T (p.Tyr1065=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2691165	NM_004415.4(DSP):c.2437-11dup	DSP	Duplication (intron variant)	Cardiomyopathy	GBenign
Select item 2691164	NM_001943.5(DSG2):c.1058T>C (p.Ile353Thr)	DSG2 (I353T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2691163	NM_024422.6(DSC2):c.154+2T>A	DSC2	Single nucleotide variant (splice donor variant)	Cardiomyopathy	GLikely pathogenic
Select item 2691162	NM_001927.4(DES):c.883T>C (p.Trp295Arg)	DES (W205R +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 2691161	NM_001927.4(DES):c.841T>A (p.Tyr281Asn)	DES (Y191N +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 2691160	NM_001927.4(DES):c.1036A>T (p.Met346Leu)	DES (M256L +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 2691159	NM_000090.4(COL3A1):c.3525+10C>G	COL3A1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2691158	NM_000090.4(COL3A1):c.2125G>A (p.Ala709Thr)	COL3A1 (A709T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 2691157	NM_007194.4(CHEK2):c.1266_1267dup (p.Gly423fs)	CHEK2 (G202fs +4 more)	Duplication (frameshift variant)	Breast and/or ovarian cancer	GLikely pathogenic
Select item 2691156	NM_000051.4(ATM):c.2411T>G (p.Leu804Arg)	ATM (L804R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2691155	NM_004360.5(CDH1):c.164-7C>G	CDH1	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer	GUncertain significance
Select item 2691154	NM_032043.3(BRIP1):c.637del (p.His213fs)	BRIP1 (H213fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 2691153	NM_032043.3(BRIP1):c.2012del (p.Glu671fs)	BRIP1 (E671fs)	Deletion (frameshift variant)	Breast and/or ovarian cancer	GLikely pathogenic
Select item 2691152	NM_000059.4(BRCA2):c.8992T>G (p.Ser2998Ala)	BRCA2 (S1354A +3 more)	Single nucleotide variant (missense variant +2 more)	Breast and/or ovarian cancer	GUncertain significance

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