"Revvity Omics, Revvity"[submitter] AND "LOC129935182"[gene] - 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 1323725	NM_001267550.2(TTN):c.106160C>G (p.Ser35387Ter)	LOC129935182, TTN +1 more (S26322* +5 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 512644	NM_001267550.2(TTN):c.106133C>T (p.Ala35378Val)	LOC129935182, TTN +1 more (A33737V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 203104	NM_001267550.2(TTN):c.106133C>G (p.Ala35378Gly)	LOC129935182, TTN +1 more (A33737G +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GConflicting classifications of pathogenicity
Select item 229571	NM_001267550.2(TTN):c.106100C>T (p.Thr35367Met)	LOC129935182, TTN +1 more (T32799M +5 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 332682	NM_001267550.2(TTN):c.106066G>A (p.Glu35356Lys)	LOC129935182, TTN +1 more (E35356K +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance
Select item 2437980	NM_001267550.2(TTN):c.106055C>A (p.Ser35352Tyr)	LOC129935182, TTN +1 more (S26287Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 503763	NM_001267550.2(TTN):c.106049del (p.Thr35350fs)	LOC129935182, TTN +1 more (T26410fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +6 more	GLikely pathogenic
Select item 2437933	NM_001267550.2(TTN):c.106043A>G (p.Asn35348Ser)	LOC129935182, TTN +1 more (N26283S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance