C0007193[trait identifier] AND "GenomeConnect - Invitae Patient Insigh - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 66924	NM_170707.4(LMNA):c.694G>C (p.Gly232Arg)	LMNA (G232R +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 1043872	NM_001267550.2(TTN):c.107797G>C (p.Gly35933Arg)	TTN, TTN-AS1 (G34292R +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +6 more	GUncertain significance
Select item 1435156	NM_001267550.2(TTN):c.106201G>A (p.Glu35401Lys)	TTN, TTN-AS1 (E26336K +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 576559	NM_001267550.2(TTN):c.65505del (p.Ile21835fs)	TTN, TTN-AS1 (I19267fs +5 more)	Deletion (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 1067630	NM_001267550.2(TTN):c.51449del (p.Pro17150fs)	TTN, TTN-AS1 (P14582fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 179411	NM_001267550.2(TTN):c.49648+2del	TTN-AS1, TTN	Deletion (splice donor variant)	Cardiovascular phenotype +11 more	GPathogenic
Select item 223307	NM_001267550.2(TTN):c.44281+1G>A	TTN	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 502085	NM_001267550.2(TTN):c.34930+2T>C	TTN	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GUncertain significance
Select item 535053	NM_001267550.2(TTN):c.12519_12520del (p.Glu4173fs)	TTN (E4173fs +4 more)	Microsatellite (frameshift variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 1017993	NM_001134363.3(RBM20):c.2382A>C (p.Arg794Ser)	RBM20 (R794S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 42650	NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter)	MYBPC3 (W890*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4 +5 more	GPathogenic
Select item 450709	NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu)	MYBPC3 (P121L)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity