"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC126806423"[gen - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 422942	NM_001267550.2(TTN):c.68308del (p.Thr22770fs)	LOC126806423, TTN +1 more (T21129fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 404898	NM_001267550.2(TTN):c.68298C>A (p.Asp22766Glu)	LOC126806423, TTN +1 more (D22766E +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1145194	NM_001267550.2(TTN):c.68235T>C (p.Asp22745=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GLikely benign
Select item 191912	NM_001267550.2(TTN):c.68078C>T (p.Thr22693Met)	LOC126806423, TTN +1 more (T20125M +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GUncertain significance
Select item 467407	NM_001267550.2(TTN):c.68007G>A (p.Lys22669=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 467404	NM_001267550.2(TTN):c.67882G>A (p.Val22628Ile)	LOC126806423, TTN +1 more (V22628I +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 165879	NM_001267550.2(TTN):c.67808C>T (p.Ala22603Val)	LOC126806423, TTN +1 more (A20035V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 202814	NM_001267550.2(TTN):c.67792A>C (p.Ser22598Arg)	LOC126806423, TTN +1 more (S20957R +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 535172	NM_001267550.2(TTN):c.67685C>A (p.Ala22562Asp)	LOC126806423, TTN +1 more (A22562D +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 1667427	NM_001267550.2(TTN):c.67637-9A>G	LOC126806423, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +5 more	GBenign/Likely benign
Select item 1163230	NM_001267550.2(TTN):c.67606G>A (p.Glu22536Lys)	LOC126806423, TTN +1 more (E13471K +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +6 more	GUncertain significance
Select item 586893	NM_001267550.2(TTN):c.67496G>A (p.Arg22499Gln)	LOC126806423, TTN +1 more (R22499Q +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GUncertain significance
Select item 180573	NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)	LOC126806423, TTN +1 more (R22499* +5 more)	Single nucleotide variant (nonsense)	Centronuclear myopathy +9 more	GPathogenic/Likely pathogenic
Select item 47251	NM_001267550.2(TTN):c.67487A>G (p.Lys22496Arg)	LOC126806423, TTN +1 more (K22496R +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GUncertain significance