"GeneReviews"[submitter] AND "TTN-AS1"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 38441	NM_001267550.2(TTN):c.107892_107897del (p.Gln35964_Gly35966delinsHis)	TTN, TTN-AS1	Deletion (inframe_indel)	Tibial muscular dystrophy	GPathogenic
Select item 38440	NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter)	TTN, TTN-AS1 (Q33396* +5 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 38439	NM_001267550.2(TTN):c.107889del (p.Lys35963fs)	TTN, TTN-AS1 (K27023fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GPathogenic
Select item 12653	NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)	TTN, TTN-AS1 (L34315P +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 12654	NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)	TTN-AS1, TTN (I33379N +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 38438	NM_001267550.2(TTN):c.107837A>C (p.His35946Pro)	TTN, TTN-AS1 (H33378P +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy	Gnot provided
Select item 12652	NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)	TTN, TTN-AS1	Indel (missense variant)	Dilated cardiomyopathy 1G +6 more	GPathogenic
Select item 38442	NM_001267550.2(TTN):c.107647del (p.Ser35883fs)	TTN, TTN-AS1 (S33315fs +5 more)	Deletion (frameshift variant)	Tibial muscular dystrophy	GPathogenic
Select item 12660	TTN:c.106668delA (p.Lys35556Argfs)	TTN, TTN-AS1 (K35556fs +5 more)	Deletion (frameshift variant)	Early-onset myopathy with fatal cardiomyopathy	GPathogenic
Select item 12661	NM_001267550.2(TTN):c.105528_105535del (p.Gln35176fs)	LOC129935184, TTN +1 more (Q35176fs +5 more)	Deletion (frameshift variant)	Early-onset myopathy with fatal cardiomyopathy	GPathogenic
Select item 178157	NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)	TTN-AS1, TTN (R31523W +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +10 more	GConflicting classifications of pathogenicity
Select item 132138	NM_001267550.2(TTN):c.95358C>G (p.Asn31786Lys)	TTN, TTN-AS1 (N31786K +5 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure	GPathogenic
Select item 132137	NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)	TTN, TTN-AS1 (P31732L +5 more)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 132136	NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys)	TTN, TTN-AS1 (W31729C +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 132135	NM_001267550.2(TTN):c.95186G>T (p.Trp31729Leu)	TTN-AS1, TTN (W31729L +5 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure	GPathogenic
Select item 132134	NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg)	TTN, TTN-AS1 (W31729R +5 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G	GPathogenic
Select item 132133	NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)	TTN, TTN-AS1 (C31712R +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GPathogenic/Likely pathogenic
Select item 132132	NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg)	TTN, TTN-AS1 (P31709R +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity