"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "LOC1268064 - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 870883	NM_001267550.2(TTN):c.49162G>A (p.Val16388Met)	LOC126806426, TTN +1 more (V13820M +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2651637	NM_001267550.2(TTN):c.49057G>A (p.Gly16353Arg)	LOC126806426, TTN +1 more (G13785R +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3027198	NM_001267550.2(TTN):c.48984A>G (p.Thr16328=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 47025	NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)	LOC126806426, TTN +1 more (I16318T +5 more)	Single nucleotide variant (missense variant +1 more)	Tibial muscular dystrophy +8 more	GConflicting classifications of pathogenicity
Select item 2651638	NM_001267550.2(TTN):c.48937A>C (p.Lys16313Gln)	LOC126806426, TTN +1 more (K13745Q +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 179704	NM_001267550.2(TTN):c.48843C>T (p.Thr16281=)	LOC126806426, TTN +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 1701398	NM_001267550.2(TTN):c.48772A>G (p.Ile16258Val)	LOC126806426, TTN +1 more (I13690V +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 191953	NM_001267550.2(TTN):c.48751G>A (p.Asp16251Asn)	LOC126806426, TTN +1 more (D13683N +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GUncertain significance
Select item 47024	NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser)	LOC126806426, TTN +1 more (P16243S +5 more)	Single nucleotide variant (missense variant)	not specified +11 more	GConflicting classifications of pathogenicity
Select item 2576612	NM_001267550.2(TTN):c.48638+1del	LOC126806426, TTN +1 more	Deletion (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic