C0007193[trait identifier] AND "Lildballe Lab, Aarhus University Hospi - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 326	NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)	NEXN (Y652C +1 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 537256	NM_001276345.2(TNNT2):c.481C>T (p.Arg161Cys)	TNNT2 (R161C +3 more)	Single nucleotide variant (missense variant)	TNNT2-related disorder +8 more	GConflicting classifications of pathogenicity
Select item 181617	NM_001276345.2(TNNT2):c.452G>A (p.Arg151Gln)	TNNT2 (R141Q +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +6 more	GConflicting classifications of pathogenicity
Select item 3338341	NM_001276345.2(TNNT2):c.275G>A (p.Gly92Glu)	TNNT2 (G77E +4 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 838221	NM_001267550.2(TTN):c.96870_96871del (p.Glu32290fs)	LOC126806421, TTN +1 more (E29722fs +5 more)	Microsatellite (frameshift variant)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 3338364	NM_001267550.2(TTN):c.96598_96599del (p.Ser32200fs)	LOC126806421, TTN +1 more (S23135fs +5 more)	Microsatellite (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1700262	NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter)	TTN, TTN-AS1 (R22716* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 2063050	NM_001267550.2(TTN):c.94903_94904del (p.Leu31635fs)	TTN, TTN-AS1 (L22570fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy +2 more	GLikely pathogenic
Select item 3338363	NM_001267550.2(TTN):c.92221_92276dup (p.Glu30760fs)	TTN, TTN-AS1 (E21695fs +5 more)	Duplication (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 202492	NM_001267550.2(TTN):c.91875del (p.Pro30626fs)	TTN, TTN-AS1 (P21686fs +5 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3338362	NM_001267550.2(TTN):c.90715del (p.Ala30239fs)	TTN, TTN-AS1 (A21174fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338361	NM_001267550.2(TTN):c.89488del (p.Ala29830fs)	TTN, TTN-AS1 (A20765fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 202487	NM_001267550.2(TTN):c.87848del (p.Leu29283fs)	TTN, TTN-AS1 (L20410fs +5 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 3338360	NM_001267550.2(TTN):c.86689_86704del (p.Asn28897fs)	TTN, TTN-AS1 (N19832fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 660709	NM_001267550.2(TTN):c.85519dup (p.Met28507fs)	TTN, TTN-AS1 (M19567fs +5 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GPathogenic/Likely pathogenic
Select item 3338359	NM_001267550.2(TTN):c.84558_84559del (p.Ile28187fs)	TTN, TTN-AS1 (I19122fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338358	NM_001267550.2(TTN):c.81726del (p.Glu27242fs)	TTN, TTN-AS1 (E18177fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 263802	NM_001267550.2(TTN):c.81340_81344del (p.Lys27114fs)	TTN, TTN-AS1 (K18174fs +5 more)	Microsatellite (frameshift variant)	not provided +5 more	GLikely pathogenic
Select item 2949519	NM_001267550.2(TTN):c.79844_79848del (p.Pro26615fs)	TTN, TTN-AS1 (P17550fs +5 more)	Microsatellite (frameshift variant)	Primary dilated cardiomyopathy +2 more	GLikely pathogenic
Select item 3338357	NM_001267550.2(TTN):c.79101T>A (p.Tyr26367Ter)	TTN, TTN-AS1 (Y17302* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338356	NM_001267550.2(TTN):c.75436del (p.Trp25145_Ile25146insTer)	TTN, TTN-AS1	Deletion (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 2028971	NM_001267550.2(TTN):c.74015del (p.Thr24672fs)	TTN, TTN-AS1 (T15607fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely pathogenic
Select item 3075913	NM_001267550.2(TTN):c.72799C>T (p.Gln24267Ter)	TTN, TTN-AS1 (Q15202* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338354	NM_001267550.2(TTN):c.70476C>A (p.Cys23492Ter)	LOC126806422, TTN +1 more (C14427* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 2442826	NM_001267550.2(TTN):c.68357del (p.Asn22786fs)	TTN, TTN-AS1 (N13721fs +5 more)	Deletion (frameshift variant)	Cardiomyopathy +1 more	GLikely pathogenic
Select item 3338353	NM_001267550.2(TTN):c.68172T>G (p.Tyr22724Ter)	LOC126806423, TTN +1 more (Y13659* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338352	NM_001267550.2(TTN):c.65329_65333del (p.Ile21777fs)	TTN, TTN-AS1 (I12712fs +5 more)	Deletion (non-coding transcript variant +1 more)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338351	NM_001267550.2(TTN):c.61769G>A (p.Trp20590Ter)	TTN, TTN-AS1 (W11525* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1067904	NM_001267550.2(TTN):c.60853dup (p.Glu20285fs)	TTN, TTN-AS1 (E11220fs +5 more)	Duplication (frameshift variant)	Primary dilated cardiomyopathy +2 more	GLikely pathogenic
Select item 3338350	NM_001267550.2(TTN):c.60415A>T (p.Lys20139Ter)	TTN, TTN-AS1 (K11074* +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338349	NM_001267550.2(TTN):c.55549G>T (p.Glu18517Ter)	TTN, TTN-AS1 (E15949* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338348	NM_001267550.2(TTN):c.54853del (p.Thr18285fs)	TTN, TTN-AS1 (T15717fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338347	NM_001267550.2(TTN):c.54812-2_54813del	TTN, TTN-AS1	Deletion (splice acceptor variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338346	NM_001267550.2(TTN):c.54342G>A (p.Trp18114Ter)	TTN, TTN-AS1 (W15546* +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1996693	NM_001267550.2(TTN):c.54037del (p.Ala18013fs)	TTN, TTN-AS1 (A8948fs +5 more)	Deletion (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely pathogenic
Select item 3338345	NM_001267550.2(TTN):c.53294del (p.Pro17765fs)	LOC126806425, TTN +1 more (P8700fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1284567	NM_001267550.2(TTN):c.52903C>T (p.Arg17635Ter)	LOC126806425, TTN +1 more (R15067* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +3 more	GPathogenic/Likely pathogenic
Select item 3338344	NM_001267550.2(TTN):c.51817G>T (p.Gly17273Ter)	TTN, TTN-AS1 (G14705* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 2203223	NM_001267550.2(TTN):c.50467C>T (p.Gln16823Ter)	TTN, TTN-AS1 (Q15182* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +2 more	GPathogenic/Likely pathogenic
Select item 3338343	NM_001267550.2(TTN):c.48836del (p.Pro16279fs)	LOC126806426, TTN +1 more (P13711fs +5 more)	Deletion (non-coding transcript variant +1 more)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 423289	NM_001267550.2(TTN):c.48379_48382del (p.Phe16127fs)	TTN, TTN-AS1 (F14486fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 3338340	NM_000337.6(SGCD):c.382+1G>A	SGCD	Single nucleotide variant (splice donor variant)	Primary dilated cardiomyopathy	GPathogenic
Select item 538028	NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter)	RBM20 (R726*)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 30396	NM_004281.4(BAG3):c.211C>T (p.Arg71Trp)	BAG3 (R71W)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +5 more	GConflicting classifications of pathogenicity

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Items: 44