C1858763[trait identifier] AND "deCODE genetics, Amgen"[submitter] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2574050	NM_001267550.2(TTN):c.105251C>G (p.Ser35084Ter)	TTN, TTN-AS1 (S26019* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574049	NM_001267550.2(TTN):c.103710G>A (p.Trp34570Ter)	TTN, TTN-AS1 (W25505* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574048	NM_001267550.2(TTN):c.102953T>G (p.Leu34318Ter)	TTN, TTN-AS1 (L25253* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574068	NM_001267550.2(TTN):c.99909del (p.Leu33303_Leu33304insTer)	LOC126806420, TTN +1 more	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574067	NM_001267550.2(TTN):c.97141_97145del (p.Leu32381fs)	TTN, TTN-AS1 (L23316fs +5 more)	Microsatellite (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574066	NM_001267550.2(TTN):c.95738del (p.Pro31913fs)	TTN, TTN-AS1 (P22848fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574065	NM_001267550.2(TTN):c.92173dup (p.Ile30725fs)	TTN, TTN-AS1 (I21660fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574064	NM_001267550.2(TTN):c.91257del (p.Val30420fs)	TTN, TTN-AS1 (V21355fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 223324	NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs)	TTN-AS1, TTN (N20902fs +5 more)	Microsatellite (frameshift variant)	Primary dilated cardiomyopathy +8 more	GPathogenic/Likely pathogenic
Select item 2574063	NM_001267550.2(TTN):c.89449G>T (p.Gly29817Ter)	TTN, TTN-AS1 (G20752* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574062	NM_001267550.2(TTN):c.86140G>T (p.Gly28714Ter)	TTN, TTN-AS1 (G19649* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574061	NM_001267550.2(TTN):c.84969T>A (p.Tyr28323Ter)	TTN, TTN-AS1 (Y19258* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2031879	NM_001267550.2(TTN):c.78110G>A (p.Trp26037Ter)	TTN, TTN-AS1 (W17164* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2574059	NM_001267550.2(TTN):c.72463del (p.Ile24155fs)	TTN, TTN-AS1 (I15090fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 47301	NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)	TTN, TTN-AS1 (R23868* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +10 more	GPathogenic/Likely pathogenic
Select item 2574058	NM_001267550.2(TTN):c.69292_69299dup (p.Ala23101fs)	TTN, TTN-AS1 (A14036fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574057	NM_001267550.2(TTN):c.68087C>A (p.Ser22696Ter)	LOC126806423, TTN +1 more (S13631* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574056	NM_001267550.2(TTN):c.67613del (p.Thr22538fs)	LOC126806423, TTN +1 more (T13473fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574055	NM_001267550.2(TTN):c.64752_64756del (p.Leu21585fs)	TTN, TTN-AS1 (L12520fs +5 more)	Deletion (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574054	NM_001267550.2(TTN):c.57998_57999del (p.Lys19333fs)	TTN, TTN-AS1 (K10268fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 941144	NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter)	TTN, TTN-AS1 (R16290* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +8 more	GPathogenic/Likely pathogenic
Select item 202509	NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter)	TTN, TTN-AS1 (R16415* +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2126182	NM_001267550.2(TTN):c.51925C>T (p.Gln17309Ter)	TTN, TTN-AS1 (Q17309* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2574052	NM_001267550.2(TTN):c.48305G>A (p.Trp16102Ter)	TTN, TTN-AS1 (W13534* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574060	NM_001267550.2(TTN):c.8017A>T (p.Lys2673Ter)	TTN (K2627* +1 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2574051	NM_001267550.2(TTN):c.3283del (p.Glu1095fs)	TTN (E1049fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic

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Items: 26