"Genome-Nilou Lab"[submitter] AND "TTN-AS1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 332674	NM_001267550.2(TTN):c.*99dup	TTN-AS1, TTN	Duplication (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive +7 more	GBenign/Likely benign
Select item 47723	NM_001267550.2(TTN):c.107700A>G (p.Glu35900=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 220650	NM_001267550.2(TTN):c.107688G>A (p.Pro35896=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Tibial muscular dystrophy +8 more	GBenign/Likely benign
Select item 262345	NM_001267550.2(TTN):c.107681-46T>A	TTN, TTN-AS1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 47718	NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala)	TTN, TTN-AS1 (V35756A +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GBenign/Likely benign
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 47713	NM_001267550.2(TTN):c.106788A>T (p.Thr35596=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GBenign/Likely benign
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 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 47704	NM_001267550.2(TTN):c.106275G>C (p.Gly35425=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 202340	NM_001267550.2(TTN):c.105787_105788delinsTT (p.Ala35263Phe)	LOC129935183, TTN +1 more (A26198F +4 more)	Indel (missense variant)	Tibial muscular dystrophy +8 more	GBenign/Likely benign
Select item 47702	NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val)	LOC129935183, TTN +1 more (A35263V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 47701	NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser)	LOC129935183, TTN +1 more (A35263S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 47700	NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu)	LOC129935183, TTN +1 more (P35261L +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GBenign/Likely benign
Select item 47699	NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys)	LOC129935183, TTN +1 more (E35257K +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 47694	NM_001267550.2(TTN):c.105582C>T (p.Ser35194=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GBenign
Select item 47693	NM_001267550.2(TTN):c.105529G>A (p.Val35177Met)	TTN-AS1, LOC129935184 +1 more (V35177M +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 47691	NM_001267550.2(TTN):c.105468G>A (p.Pro35156=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 47689	NM_001267550.2(TTN):c.105384A>G (p.Ala35128=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign
Select item 47684	NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp)	LOC129935185, TTN +1 more (E35060D +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 466736	NM_001267550.2(TTN):c.105085T>C (p.Leu35029=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GBenign/Likely benign
Select item 47681	NM_001267550.2(TTN):c.104988C>T (p.Val34996=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Early-onset myopathy with fatal cardiomyopathy +7 more	GBenign
Select item 378832	NM_001267550.2(TTN):c.104691G>A (p.Ser34897=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 178154	NM_001267550.2(TTN):c.104592G>A (p.Pro34864=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 47675	NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)	TTN, TTN-AS1 (R34859Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GBenign/Likely benign
Select item 47670	NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu)	TTN-AS1, TTN (M34793L +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GBenign/Likely benign
Select item 282653	NM_001267550.2(TTN):c.104347C>T (p.Leu34783Phe)	TTN, TTN-AS1 (L32215F +5 more)	Single nucleotide variant (missense variant)	not specified +9 more	GBenign/Likely benign
Select item 535485	NM_001267550.2(TTN):c.104205G>A (p.Thr34735=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GBenign/Likely benign
Select item 47663	NM_001267550.2(TTN):c.103781G>A (p.Arg34594His)	TTN, TTN-AS1 (R34594H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 137818	NM_001267550.2(TTN):c.103524C>T (p.Val34508=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Tibial muscular dystrophy +7 more	GBenign/Likely benign
Select item 96326	NM_001267550.2(TTN):c.103365C>T (p.Arg34455=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GBenign/Likely benign
Select item 47655	NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val)	TTN, TTN-AS1 (G34278V +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +7 more	GBenign/Likely benign
Select item 47650	NM_001267550.2(TTN):c.102519C>T (p.Gly34173=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign
Select item 47642	NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val)	TTN-AS1, TTN (I33935V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 47640	NM_001267550.2(TTN):c.101697C>T (p.Asp33899=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Early-onset myopathy with fatal cardiomyopathy +8 more	GBenign/Likely benign
Select item 47638	NM_001267550.2(TTN):c.101406C>G (p.Val33802=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +8 more	GBenign/Likely benign
Select item 47632	NM_001267550.2(TTN):c.101064T>C (p.Asp33688=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 196651	NM_001267550.2(TTN):c.100766-10dup	TTN, TTN-AS1	Duplication (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 47631	NM_001267550.2(TTN):c.100766-9C>T	TTN, TTN-AS1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +6 more	GBenign/Likely benign
Select item 281843	NM_001267550.2(TTN):c.100766-11_100766-10del	TTN-AS1, TTN	Deletion (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 96324	NC_000002.12:g.178535859A>G	TTN-AS1, TTN	Single nucleotide variant (intron variant)	not provided +7 more	GBenign
Select item 47629	NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile)	TTN-AS1, TTN (V33527I +5 more)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 47628	NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser)	TTN, TTN-AS1 (P33487S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 47625	NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile)	LOC126806420, TTN +1 more (V33366I +5 more)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 47624	NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln)	LOC126806420, TTN +1 more (R33365Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 47623	NM_001267550.2(TTN):c.100059T>A (p.Ile33353=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 178160	NM_001267550.2(TTN):c.99969C>T (p.Ile33323=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 202282	NM_001267550.2(TTN):c.99866-10C>T	LOC126806420, TTN +1 more	Single nucleotide variant (intron variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 179463	NM_001267550.2(TTN):c.99810C>T (p.Val33270=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +7 more	GBenign/Likely benign
Select item 165672	NM_001267550.2(TTN):c.99345T>G (p.Gly33115=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GBenign/Likely benign
Select item 47613	NM_001267550.2(TTN):c.99111T>C (p.Tyr33037=)	TTN, TTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 47610	NM_001267550.2(TTN):c.98912G>A (p.Arg32971His)	TTN-AS1, TTN (R32971H +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +7 more	GBenign
Select item 47607	NM_001267550.2(TTN):c.98721C>A (p.Leu32907=)	TTN-AS1, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +7 more	GBenign/Likely benign
Select item 47604	NM_001267550.2(TTN):c.98595A>G (p.Glu32865=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified +8 more	GBenign/Likely benign
Select item 47603	NM_001267550.2(TTN):c.98499C>T (p.Leu32833=)	TTN, TTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +8 more	GBenign/Likely benign
Select item 47601	NM_001267550.2(TTN):c.98439G>A (p.Val32813=)	TTN-AS1, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 137816	NM_001267550.2(TTN):c.98367G>A (p.Lys32789=)	TTN, TTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GBenign/Likely benign
Select item 47595	NM_001267550.2(TTN):c.98164A>T (p.Ile32722Phe)	TTN, TTN-AS1 (I32722F +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 47594	NM_001267550.2(TTN):c.98098+9T>A	TTN-AS1, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +6 more	GBenign
Select item 47590	NM_001267550.2(TTN):c.97795+6G>T	TTN-AS1, TTN	Single nucleotide variant (intron variant)	not provided +6 more	GBenign
Select item 47586	NM_001267550.2(TTN):c.97613G>A (p.Arg32538His)	TTN, TTN-AS1 (R32538H +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GBenign/Likely benign
Select item 130684	NM_001267550.2(TTN):c.97578C>T (p.Asp32526=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 165695	NM_001267550.2(TTN):c.97464T>C (p.Ser32488=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GBenign/Likely benign
Select item 47577	NM_001267550.2(TTN):c.96998G>A (p.Arg32333His)	TTN, TTN-AS1 (R32333H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 47575	NM_001267550.2(TTN):c.96960T>C (p.Ala32320=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 47574	NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile)	LOC126806421, TTN +1 more (T32315I +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +8 more	GBenign/Likely benign
Select item 165698	NM_001267550.2(TTN):c.96904+8C>T	LOC126806421, TTN +1 more	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 165704	NM_001267550.2(TTN):c.96180T>C (p.Ile32060=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiomyopathy +7 more	GBenign/Likely benign
Select item 47566	NM_001267550.2(TTN):c.96158T>C (p.Ile32053Thr)	LOC126806421, TTN +1 more (I32053T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign
Select item 47563	NM_001267550.2(TTN):c.96108G>A (p.Val32036=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 47559	NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro)	TTN-AS1, TTN (L31852P +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 47558	NM_001267550.2(TTN):c.95553C>T (p.Ser31851=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 228170	NM_001267550.2(TTN):c.95406A>G (p.Arg31802=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Myopathy, myofibrillar, 9, with early respiratory failure +8 more	GBenign/Likely benign
Select item 47554	NM_001267550.2(TTN):c.95259C>T (p.Leu31753=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 47551	NM_001267550.2(TTN):c.95205C>T (p.Asp31735=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 47550	NM_001267550.2(TTN):c.95148C>T (p.Thr31716=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign/Likely benign
Select item 47547	NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly)	TTN, TTN-AS1 (S31683G +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 47546	NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn)	TTN-AS1, TTN (D31679N +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GBenign/Likely benign
Select item 390746	NM_001267550.2(TTN):c.94464T>C (p.Ala31488=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +6 more	GBenign/Likely benign
Select item 47539	NM_001267550.2(TTN):c.94046G>A (p.Arg31349His)	TTN, TTN-AS1 (R31349H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 47537	NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile)	TTN, TTN-AS1 (V31301I +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +8 more	GBenign/Likely benign
Select item 388387	NM_001267550.2(TTN):c.93868C>T (p.Leu31290=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Early-onset myopathy with fatal cardiomyopathy +7 more	GBenign/Likely benign
Select item 202281	NM_001267550.2(TTN):c.93444C>T (p.Tyr31148=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +6 more	GBenign/Likely benign
Select item 47532	NM_001267550.2(TTN):c.93387C>T (p.Ser31129=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 47530	NM_001267550.2(TTN):c.93243C>T (p.Ala31081=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign
Select item 47529	NM_001267550.2(TTN):c.92901C>T (p.Ser30967=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 47521	NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val)	TTN, TTN-AS1 (I30731V +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +8 more	GBenign/Likely benign
Select item 47519	NM_001267550.2(TTN):c.92131G>A (p.Val30711Met)	TTN, TTN-AS1 (V30711M +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 47517	NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser)	TTN, TTN-AS1 (N30646S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 47516	NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser)	TTN-AS1, TTN (R30628S +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GBenign/Likely benign
Select item 47515	NM_001267550.2(TTN):c.91852+8T>A	TTN, TTN-AS1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +6 more	GBenign/Likely benign
Select item 47511	NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val)	TTN, TTN-AS1 (I30525V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GBenign/Likely benign
Select item 47510	NM_001267550.2(TTN):c.91565-13C>T	TTN, TTN-AS1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GBenign/Likely benign
Select item 467633	NM_001267550.2(TTN):c.91089G>A (p.Lys30363=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 47504	NM_001267550.2(TTN):c.91071T>G (p.Thr30357=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Early-onset myopathy with fatal cardiomyopathy +7 more	GBenign
Select item 47503	NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys)	TTN, TTN-AS1 (R30323K +5 more)	Single nucleotide variant (missense variant)	not specified +8 more	GBenign/Likely benign
Select item 130683	NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr)	TTN, TTN-AS1 (I30213T +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +9 more	GBenign/Likely benign
Select item 47494	NM_001267550.2(TTN):c.89994G>A (p.Ser29998=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 47488	NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu)	TTN, TTN-AS1 (I29773L +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +8 more	GBenign/Likely benign

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