C2673677[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12652	NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)	TTN, TTN-AS1	Indel (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	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 242430	NM_001267550.2(TTN):c.106154A>C (p.Lys35385Thr)	LOC129935182, TTN +1 more (K35385T +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +5 more	GUncertain significance
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 405075	NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg)	TTN, TTN-AS1 (W34072R +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GPathogenic/Likely pathogenic
Select item 46991	NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)	LOC126806427, TTN (A15200G +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +9 more	GConflicting classifications of pathogenicity
Select item 405059	NM_001267550.2(TTN):c.9163+1G>C	TTN	Single nucleotide variant (splice donor variant)	not provided +3 more	GUncertain significance
Select item 12659	NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)	TTN (R279W)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GConflicting classifications of pathogenicity