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

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 46991	NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)	LOC126806427, TTN (A15200G +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 262327	NM_001267550.2(TTN):c.45585C>T (p.Ala15195=)	LOC126806427, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 3038548	NM_001267550.2(TTN):c.45520_45521del (p.Arg15174fs)	LOC126806427, TTN (R12606fs +5 more)	Microsatellite (frameshift variant)	TTN-related disorder	GLikely pathogenic
Select item 46989	NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile)	LOC126806427, TTN (V15167I +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 46988	NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn)	LOC126806427, TTN (K15136N +5 more)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 3058591	NM_001267550.2(TTN):c.45349+8A>G	LOC126806427, TTN	Single nucleotide variant (intron variant)	TTN-related disorder	GLikely benign
Select item 178211	NM_001267550.2(TTN):c.45273C>T (p.Asn15091=)	LOC126806427, TTN	Single nucleotide variant (synonymous variant)	TTN-related disorder +9 more	GConflicting classifications of pathogenicity
Select item 191959	NM_001267550.2(TTN):c.45247C>T (p.Arg15083Trp)	LOC126806427, TTN (R12515W +5 more)	Single nucleotide variant (missense variant)	TTN-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 3029604	NM_001267550.2(TTN):c.45113C>G (p.Ala15038Gly)	LOC126806427, TTN (A12470G +5 more)	Single nucleotide variant (missense variant)	TTN-related disorder	GUncertain significance