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

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

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2651689	NM_001267550.2(TTN):c.18923C>A (p.Ser6308Tyr)	LOC126806430, TTN (S5064Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 46646	NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)	LOC126806430, TTN (N6275S +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GConflicting classifications of pathogenicity
Select item 46645	NM_001267550.2(TTN):c.18816T>C (p.Ile6272=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GConflicting classifications of pathogenicity
Select item 46644	NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)	LOC126806430, TTN (T6259S +2 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +11 more	GConflicting classifications of pathogenicity
Select item 1175983	NM_001267550.2(TTN):c.18767T>G (p.Leu6256Arg)	LOC126806430, TTN (L5012R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 46643	NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn)	LOC126806430, TTN (D6249N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 2651690	NM_001267550.2(TTN):c.18732A>G (p.Lys6244=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 516806	NM_001267550.2(TTN):c.18681G>A (p.Pro6227=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 46642	NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp)	LOC126806430, TTN (E6221D +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GConflicting classifications of pathogenicity
Select item 332921	NM_001267550.2(TTN):c.18646G>A (p.Val6216Met)	LOC126806430, TTN (V4972M +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance
Select item 508948	NM_001267550.2(TTN):c.18645C>T (p.Asp6215=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GLikely benign
Select item 535287	NM_001267550.2(TTN):c.18589+4C>T	LOC126806430, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 228062	NM_001267550.2(TTN):c.18561G>A (p.Ala6187=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +5 more	GConflicting classifications of pathogenicity
Select item 2498854	NM_001267550.2(TTN):c.18552A>G (p.Ala6184=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 203272	NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr)	LOC126806430, TTN (A5867T +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +5 more	GConflicting classifications of pathogenicity
Select item 765525	NM_001267550.2(TTN):c.18276A>G (p.Thr6092=)	LOC126806430, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 46636	NM_001267550.2(TTN):c.18173G>A (p.Arg6058His)	LOC126806430, TTN (R6058H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance