C5231401[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 129647	NM_002465.4(MYBPC1):c.774C>T (p.Asp258=)	MYBPC1	Single nucleotide variant (synonymous variant)	Myopathy, congenital, with tremor +4 more	GBenign
Select item 129642	NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln)	MYBPC1 (H506Q +6 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 1277918	NM_002465.4(MYBPC1):c.1633+33T>C	MYBPC1	Single nucleotide variant (intron variant)	Myopathy, congenital, with tremor +3 more	GBenign
Select item 258658	NM_002465.4(MYBPC1):c.1634-18del	MYBPC1	Deletion (intron variant)	Myopathy, congenital, with tremor +4 more	GBenign
Select item 1228159	NM_002465.4(MYBPC1):c.2222-38T>C	MYBPC1	Single nucleotide variant (intron variant)	Myopathy, congenital, with tremor +3 more	GBenign
Select item 129644	NM_002465.4(MYBPC1):c.2544T>C (p.Ile848=)	MYBPC1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 129645	NM_002465.4(MYBPC1):c.2817A>G (p.Pro939=)	MYBPC1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 1276920	NM_002465.4(MYBPC1):c.3492+39C>T	MYBPC1	Single nucleotide variant (intron variant)	Myopathy, congenital, with tremor +3 more	GBenign
Select item 306752	NM_002465.4(MYBPC1):c.*78G>A	MYBPC1	Single nucleotide variant (3 prime UTR variant +1 more)	Arthrogryposis, distal, type 1B +3 more	GBenign

ClinVar