C1837342[trait identifier] AND "Phosphorus, Inc."[submitter] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 332687	NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val)	TTN, TTN-AS1 (A32560V +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GConflicting classifications of pathogenicity
Select item 191827	NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys)	TTN, TTN-AS1 (R31093K +5 more)	Single nucleotide variant (missense variant)	TTN-related condition +5 more	GConflicting classifications of pathogenicity
Select item 488181	NM_001267550.2(TTN):c.51625G>A (p.Ala17209Thr)	TTN, TTN-AS1 (A14641T +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GUncertain significance
Select item 488180	NM_001267550.2(TTN):c.32371G>C (p.Val10791Leu)	TTN (V10791L +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GUncertain significance
Select item 332894	NM_001267550.2(TTN):c.31456A>T (p.Ile10486Phe)	TTN (I10486F +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GConflicting classifications of pathogenicity
Select item 46841	NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)	TTN (V10240F +2 more)	Single nucleotide variant (missense variant +1 more)	TTN-related condition +10 more	GConflicting classifications of pathogenicity
Select item 262320	NM_001267550.2(TTN):c.15561G>T (p.Leu5187=)	TTN	Single nucleotide variant (synonymous variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +5 more	GBenign
Select item 262319	NM_001267550.2(TTN):c.15561G>A (p.Leu5187=)	TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GBenign/Likely benign
Select item 488179	NM_133379.5(TTN):c.11899T>C (p.Phe3967Leu)	TTN (F3967L)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 488178	NM_133379.5(TTN):c.11056T>C (p.Trp3686Arg)	TTN (W3686R)	Single nucleotide variant (missense variant +1 more)	Tibial muscular dystrophy +2 more	GUncertain significance
Select item 238691	NM_001267550.2(TTN):c.10115-4G>A	TTN	Single nucleotide variant (intron variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 192099	NM_001267550.2(TTN):c.266C>G (p.Ala89Gly)	TTN (A89G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity