C1863599[trait identifier] AND "GenomeConnect - Invitae Patient Insigh - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1043872	NM_001267550.2(TTN):c.107797G>C (p.Gly35933Arg)	TTN, TTN-AS1 (G34292R +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 571911	NM_001267550.2(TTN):c.106537A>G (p.Lys35513Glu)	TTN, TTN-AS1 (K35513E +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 576559	NM_001267550.2(TTN):c.65505del (p.Ile21835fs)	TTN, TTN-AS1 (I19267fs +5 more)	Deletion (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 1067630	NM_001267550.2(TTN):c.51449del (p.Pro17150fs)	TTN, TTN-AS1 (P14582fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 179411	NM_001267550.2(TTN):c.49648+2del	TTN, TTN-AS1	Deletion (splice donor variant)	Dilated cardiomyopathy 1G +10 more	GPathogenic
Select item 223307	NM_001267550.2(TTN):c.44281+1G>A	TTN	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 502085	NM_001267550.2(TTN):c.34930+2T>C	TTN	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GUncertain significance
Select item 535053	NM_001267550.2(TTN):c.12519_12520del (p.Glu4173fs)	TTN (E4173fs +4 more)	Microsatellite (frameshift variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance