TTN:c.38791 1G>A - ClinVar - NCBI

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Items: 12

The following term was not found in ClinVar: c.38791.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 228309	NM_001267550.2(TTN):c.99866-1G>A	LOC126806420, TTN +1 more	Single nucleotide variant (splice acceptor variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 202428	NM_001267550.2(TTN):c.98989+1G>A	TTN-AS1, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 47113	NM_001267550.2(TTN):c.56647+1G>A	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely pathogenic
Select item 179336	NM_001267550.2(TTN):c.51739+1G>C	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1G +5 more	GConflicting classifications of pathogenicity
Select item 178984	NM_001267550.2(TTN):c.45895+1G>A	TTN	Single nucleotide variant (splice donor variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 223256	NM_001267550.2(TTN):c.40558+1G>A	TTN	Single nucleotide variant (splice donor variant)	Primary dilated cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 166102	NM_001267550.2(TTN):c.34709-1G>A	TTN	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 46855	NM_001267550.2(TTN):c.31763-1G>A	TTN	Single nucleotide variant (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GConflicting classifications of pathogenicity
Select item 46689	NM_001267550.2(TTN):c.1800+1G>A	TTN	Single nucleotide variant (intron variant +1 more)	Muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 635222	NM_001105206.3(LAMA4):c.5206+1G>A	LAMA4	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 42807	NM_000256.3(MYBPC3):c.927-9G>A	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 4 +5 more	GPathogenic
Select item 424834	NM_001267550.2(TTN):c.[32471-1G>A];[55732+5G>C]			Autosomal recessive limb-girdle muscular dystrophy type 2J	GLikely pathogenic