"Genome-Nilou Lab"[submitter] AND "LOC101927055"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 47100	NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met)	LOC101927055, TTN (T1580M +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 47098	NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln)	LOC101927055, TTN (R1572Q +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +7 more	GBenign/Likely benign
Select item 195993	NM_001267550.2(TTN):c.4645+8G>T	LOC101927055, TTN	Single nucleotide variant (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GBenign/Likely benign
Select item 47078	NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val)	LOC101927055, TTN (I1544V +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 47063	NM_001267550.2(TTN):c.4480+6C>T	LOC101927055, TTN	Single nucleotide variant (intron variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +6 more	GBenign
Select item 47050	NM_001267550.2(TTN):c.4347A>G (p.Ser1449=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +8 more	GBenign/Likely benign
Select item 47049	NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro)	LOC101927055, TTN (L1443P +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +9 more	GBenign/Likely benign
Select item 47046	NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro)	LOC101927055, TTN (R1441P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GBenign/Likely benign
Select item 47040	NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys)	LOC101927055, TTN (R1416C +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +9 more	GBenign/Likely benign
Select item 47032	NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val)	LOC101927055, TTN (I1393V +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GBenign/Likely benign
Select item 47014	NM_001267550.2(TTN):c.3993C>T (p.Ile1331=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GBenign/Likely benign
Select item 47001	NM_001267550.2(TTN):c.3884C>T (p.Ser1295Leu)	LOC101927055, TTN (S1295L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign
Select item 46985	NM_001267550.2(TTN):c.3759A>G (p.Arg1253=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +7 more	GBenign