"Ambry Genetics"[submitter] AND "TTN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 178150	NM_001267550.2(TTN):c.107961T>C (p.His35987=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 1622829	NM_001267550.2(TTN):c.107952G>A (p.Val35984=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 46575	NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile)	TTN, TTN-AS1 (S35972I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 38439	NM_001267550.2(TTN):c.107889del (p.Lys35963fs)	TTN, TTN-AS1 (K27023fs +5 more)	Deletion (frameshift variant)	TTN-related condition +9 more	GPathogenic
Select item 1761857	NM_001267550.2(TTN):c.107874C>T (p.Ile35958=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 698656	NM_001267550.2(TTN):c.107871C>T (p.Ile35957=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 594280	NM_001267550.2(TTN):c.107832G>A (p.Arg35944=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 967965	NM_001267550.2(TTN):c.107800G>A (p.Gly35934Arg)	TTN, TTN-AS1 (G35934R +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GUncertain significance
Select item 1043872	NM_001267550.2(TTN):c.107797G>C (p.Gly35933Arg)	TTN, TTN-AS1 (G34292R +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +6 more	GUncertain significance
Select item 1761824	NM_001267550.2(TTN):c.107782G>T (p.Val35928Leu)	TTN, TTN-AS1 (V26863L +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GUncertain significance
Select item 46574	NM_001267550.2(TTN):c.107766T>C (p.Gly35922=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	TTN-related condition +8 more	GConflicting classifications of pathogenicity
Select item 46573	NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr)	TTN, TTN-AS1 (C35918Y +5 more)	Single nucleotide variant (missense variant)	TTN-related condition +6 more	GConflicting classifications of pathogenicity
Select item 1408765	NM_001267550.2(TTN):c.107747T>C (p.Val35916Ala)	TTN, TTN-AS1 (V26976A +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 1761818	NM_001267550.2(TTN):c.107742A>G (p.Leu35914=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 47723	NM_001267550.2(TTN):c.107700A>G (p.Glu35900=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	TTN-related condition +9 more	GBenign/Likely benign
Select item 220650	NM_001267550.2(TTN):c.107688G>A (p.Pro35896=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 229575	NM_001267550.2(TTN):c.107671G>A (p.Gly35891Ser)	TTN, TTN-AS1 (G33323S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +4 more	GConflicting classifications of pathogenicity
Select item 1440799	NM_001267550.2(TTN):c.107661G>A (p.Met35887Ile)	TTN, TTN-AS1 (M26947I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 238702	NM_001267550.2(TTN):c.107634A>G (p.Thr35878=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2451892	NM_001267550.2(TTN):c.107607C>T (p.Ser35869=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 47722	NM_001267550.2(TTN):c.107605A>G (p.Ser35869Gly)	TTN-AS1, TTN (S35869G +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 502239	NM_001267550.2(TTN):c.107593G>A (p.Glu35865Lys)	TTN, TTN-AS1 (E33297K +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 518510	NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter)	TTN-AS1, TTN (Q26795* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +7 more	GPathogenic/Likely pathogenic
Select item 47720	NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr)	TTN-AS1, TTN (M35859T +5 more)	Single nucleotide variant (missense variant)	TTN-related condition +10 more	GConflicting classifications of pathogenicity
Select item 1761750	NM_001267550.2(TTN):c.107571C>T (p.Ser35857=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1761747	NM_001267550.2(TTN):c.107541A>G (p.Lys35847=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1761746	NM_001267550.2(TTN):c.107535G>A (p.Glu35845=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 203117	NM_001267550.2(TTN):c.107517T>G (p.Ser35839Arg)	TTN, TTN-AS1 (S34198R +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1761714	NM_001267550.2(TTN):c.107469G>A (p.Met35823Ile)	TTN, TTN-AS1 (M26950I +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GUncertain significance
Select item 281477	NM_001267550.2(TTN):c.107450C>T (p.Ser35817Leu)	TTN, TTN-AS1 (S35817L +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +8 more	GConflicting classifications of pathogenicity
Select item 1761708	NM_001267550.2(TTN):c.107438A>G (p.Gln35813Arg)	TTN, TTN-AS1 (Q26940R +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 762284	NM_001267550.2(TTN):c.107410T>C (p.Leu35804=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 137821	NM_001267550.2(TTN):c.107397C>T (p.Ser35799=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 196723	NM_001267550.2(TTN):c.107377+1G>A	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 382175	NM_001267550.2(TTN):c.107364C>T (p.Ser35788=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GLikely benign
Select item 203116	NM_001267550.2(TTN):c.107357C>T (p.Thr35786Ile)	TTN, TTN-AS1 (T34145I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1761654	NM_001267550.2(TTN):c.107307T>C (p.Ser35769=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 1761652	NM_001267550.2(TTN):c.107305A>C (p.Ser35769Arg)	TTN, TTN-AS1 (S26829R +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 1084486	NM_001267550.2(TTN):c.107301C>T (p.Ser35767=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 1761650	NM_001267550.2(TTN):c.107295A>G (p.Ser35765=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 681818	NM_001267550.2(TTN):c.107289T>C (p.Asn35763=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 47718	NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala)	TTN, TTN-AS1 (V35756A +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 191804	NM_001267550.2(TTN):c.107230A>G (p.Ile35744Val)	TTN, TTN-AS1 (I33176V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 749417	NM_001267550.2(TTN):c.107199C>T (p.Ile35733=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1123881	NM_001267550.2(TTN):c.107118A>G (p.Ser35706=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 203112	NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu)	TTN, TTN-AS1 (P34061L +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 191806	NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln)	TTN, TTN-AS1 (E33129Q +5 more)	Single nucleotide variant (missense variant)	TTN-related condition +8 more	GConflicting classifications of pathogenicity
Select item 180004	NM_001267550.2(TTN):c.107082G>A (p.Leu35694=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GLikely benign
Select item 1761480	NM_001267550.2(TTN):c.107074T>C (p.Leu35692=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1761479	NM_001267550.2(TTN):c.107070T>C (p.Tyr35690=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 262343	NM_001267550.2(TTN):c.107061G>A (p.Lys35687=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GLikely benign
Select item 1761477	NM_001267550.2(TTN):c.107043C>A (p.Thr35681=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 179795	NM_001267550.2(TTN):c.107009G>C (p.Arg35670Thr)	TTN-AS1, TTN (R33102T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1761441	NM_001267550.2(TTN):c.106992C>A (p.Ile35664=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1111719	NM_001267550.2(TTN):c.106992C>T (p.Ile35664=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 466760	NM_001267550.2(TTN):c.106974C>T (p.Ser35658=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1761436	NM_001267550.2(TTN):c.106962T>C (p.Gly35654=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 47717	NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln)	TTN, TTN-AS1 (R35652Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 797054	NM_001267550.2(TTN):c.106941C>T (p.Asn35647=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 203108	NM_001267550.2(TTN):c.106927G>A (p.Val35643Ile)	TTN, TTN-AS1 (V34002I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 332679	NM_001267550.2(TTN):c.106926C>T (p.Gly35642=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GConflicting classifications of pathogenicity
Select item 47716	NM_001267550.2(TTN):c.106920G>A (p.Leu35640=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 535191	NM_001267550.2(TTN):c.106911A>G (p.Lys35637=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2451907	NM_001267550.2(TTN):c.106908G>A (p.Val35636=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1434094	NM_001267550.2(TTN):c.106906G>A (p.Val35636Met)	TTN, TTN-AS1 (V26571M +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 519045	NM_001267550.2(TTN):c.106902T>G (p.Thr35634=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 178152	NM_001267550.2(TTN):c.106876T>G (p.Leu35626Val)	TTN, TTN-AS1 (L33058V +5 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 47715	NM_001267550.2(TTN):c.106857C>T (p.Asn35619=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 2451881	NM_001267550.2(TTN):c.106836_106837del (p.Ser35613fs)	TTN, TTN-AS1 (S26673fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 47714	NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala)	TTN-AS1, TTN (S35613A +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 179036	NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val)	TTN, TTN-AS1 (A33039V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 1711512	NM_001267550.2(TTN):c.106795G>C (p.Ala35599Pro)	TTN, TTN-AS1 (A26534P +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 47713	NM_001267550.2(TTN):c.106788A>T (p.Thr35596=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 47712	NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile)	TTN, TTN-AS1 (T35596I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 1761373	NM_001267550.2(TTN):c.106781C>T (p.Thr35594Ile)	TTN, TTN-AS1 (T26721I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1761360	NM_001267550.2(TTN):c.106701T>G (p.Ala35567=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 192135	NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)	TTN, TTN-AS1 (E32991Q +5 more)	Single nucleotide variant (missense variant)	TTN-related condition +11 more	GConflicting classifications of pathogenicity
Select item 47711	NM_001267550.2(TTN):c.106638G>A (p.Arg35546=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 47710	NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr)	TTN, TTN-AS1 (I35540T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 466758	NM_001267550.2(TTN):c.106604T>C (p.Val35535Ala)	TTN, TTN-AS1 (V35535A +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 857231	NM_001267550.2(TTN):c.106585A>C (p.Thr35529Pro)	TTN, TTN-AS1 (T26464P +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 1761302	NM_001267550.2(TTN):c.106583T>C (p.Ile35528Thr)	TTN, TTN-AS1 (I26588T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 915801	NM_001267550.2(TTN):c.106578_106580delinsAGT (p.Glu35527Val)	TTN, TTN-AS1 (E26462V +5 more)	Indel (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 47709	NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val)	TTN, TTN-AS1 (E35527V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 47708	NM_001267550.2(TTN):c.106578T>A (p.Ser35526=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 808890	NM_001267550.2(TTN):c.106575_106576insGTAATTTCT (p.Thr35525_Ser35526insValIleSer)	TTN, TTN-AS1	Insertion (inframe_insertion)	Dilated cardiomyopathy 1G +3 more	GUncertain significance
Select item 1148293	NM_001267550.2(TTN):c.106563T>C (p.Ser35521=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 571911	NM_001267550.2(TTN):c.106537A>G (p.Lys35513Glu)	TTN, TTN-AS1 (K35513E +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +3 more	GUncertain significance
Select item 571263	NM_001267550.2(TTN):c.106531G>A (p.Ala35511Thr)	TTN, TTN-AS1 (A35511T +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GUncertain significance
Select item 535557	NM_001267550.2(TTN):c.106511G>C (p.Ser35504Thr)	TTN, TTN-AS1 (S35504T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1761289	NM_001267550.2(TTN):c.106506C>T (p.Ser35502=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 47706	NM_001267550.2(TTN):c.106476T>C (p.Cys35492=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +9 more	GBenign/Likely benign
Select item 229572	NM_001267550.2(TTN):c.106468T>C (p.Tyr35490His)	TTN, TTN-AS1 (Y32922H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 264042	NM_001267550.2(TTN):c.106461T>A (p.Ser35487Arg)	TTN, TTN-AS1 (S26422R +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 284002	NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg)	TTN, TTN-AS1 (K32913R +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +8 more	GConflicting classifications of pathogenicity
Select item 2566353	NM_001267550.2(TTN):c.106404C>A (p.Leu35468=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 997865	NM_001267550.2(TTN):c.106398T>C (p.Tyr35466=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 586862	NM_001267550.2(TTN):c.106388G>C (p.Gly35463Ala)	TTN, TTN-AS1 (G35463A +5 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 2451861	NM_001267550.2(TTN):c.106367_106369dup (p.Asp35456_Gly35457insAsp)	TTN, TTN-AS1	Duplication (inframe_insertion)	Cardiovascular phenotype	GUncertain significance
Select item 1197339	NM_001267550.2(TTN):c.106349C>G (p.Thr35450Ser)	TTN, TTN-AS1 (T26385S +5 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity

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