"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1299 - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 583796	NC_000002.11:g.(?_179296804)_(179456251_?)dup	CHROMR, FKBP7 +17 more	Duplication	Dystonia 16	GUncertain significance
Select item 535754	NC_000002.12:g.(?_178528254)_(178544135_?)del	LOC129935186, LOC126806420 +7 more	Deletion	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 1663143	NM_001267550.2(TTN):c.97192+15C>T	LOC129935186, TTN +1 more	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1660612	NM_001267550.2(TTN):c.97192+15C>G	LOC129935186, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1592410	NM_001267550.2(TTN):c.97192+12T>C	LOC129935186, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1496416	NM_001267550.2(TTN):c.97192+5G>A	LOC129935186, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 223355	NM_001267550.2(TTN):c.97192+4A>G	LOC129935186, TTN +1 more	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy +3 more	GUncertain significance
Select item 2942701	NM_001267550.2(TTN):c.97192+1G>C	LOC129935186, TTN +1 more	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 1156216	NM_001267550.2(TTN):c.97185C>T (p.Ile32395=)	LOC129935186, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 2014954	NM_001267550.2(TTN):c.97179_97183del (p.Lys32393fs)	LOC129935186, TTN +1 more (K23520fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 1457957	NM_001267550.2(TTN):c.97179A>G (p.Lys32393=)	LOC129935186, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 1121642	NM_001267550.2(TTN):c.97173C>G (p.Thr32391=)	LOC129935186, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign