"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC126806 - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 47263	NM_001267550.2(TTN):c.68217T>C (p.His22739=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +6 more	GBenign
Select item 2637059	NM_001267550.2(TTN):c.68189T>C (p.Leu22730Pro)	LOC126806423, TTN +1 more (L13665P +5 more)	Single nucleotide variant (missense variant)	TTN-related disorder	GUncertain significance
Select item 2632454	NM_001267550.2(TTN):c.68169del (p.Lys22723fs)	LOC126806423, TTN +1 more (K13658fs +5 more)	Deletion (frameshift variant)	TTN-related disorder	GLikely pathogenic
Select item 2631297	NM_001267550.2(TTN):c.68137G>T (p.Glu22713Ter)	LOC126806423, TTN +1 more (E13648* +5 more)	Single nucleotide variant (nonsense)	TTN-related disorder	GLikely pathogenic
Select item 264080	NM_001267550.2(TTN):c.68083G>A (p.Ala22695Thr)	LOC126806423, TTN +1 more (A13630T +5 more)	Single nucleotide variant (missense variant)	TTN-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 467407	NM_001267550.2(TTN):c.68007G>A (p.Lys22669=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 262330	NM_001267550.2(TTN):c.67959T>C (p.Phe22653=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
Select item 238829	NM_001267550.2(TTN):c.67809G>A (p.Ala22603=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 202813	NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln)	LOC126806423, TTN +1 more (R20928Q +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GConflicting classifications of pathogenicity
Select item 167773	NM_001267550.2(TTN):c.67637-4A>G	LOC126806423, TTN +1 more	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 137804	NM_001267550.2(TTN):c.67637-17T>C	LOC126806423, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +5 more	GBenign
Select item 47255	NM_001267550.2(TTN):c.67635T>C (p.Val22545=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +7 more	GBenign/Likely benign
Select item 220680	NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn)	LOC126806423, TTN +1 more (S22535N +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 165881	NM_001267550.2(TTN):c.67444C>T (p.Arg22482Trp)	LOC126806423, TTN +1 more (R19914W +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity