ClinVar for MedGen (Select 1684886) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242127	NM_002465.4(MYBPC1):c.608+5C>T	MYBPC1	Single nucleotide variant (intron variant)	Myopathy, congenital, with tremor	GUncertain significance
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 1276920	NM_002465.4(MYBPC1):c.3492+39C>T	MYBPC1	Single nucleotide variant (intron variant)	Myopathy, congenital, with tremor +3 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 1211435	NM_002465.4(MYBPC1):c.437G>A (p.Arg146Gln)	MYBPC1 (R108Q +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 689419	NM_002465.4(MYBPC1):c.739T>C (p.Tyr247His)	MYBPC1 (Y247H +6 more)	Single nucleotide variant (missense variant)	Myopathy, congenital, with tremor	GPathogenic
Select item 635215	NM_002465.4(MYBPC1):c.788T>G (p.Leu263Arg)	MYBPC1 (L263R +6 more)	Single nucleotide variant (missense variant)	Myopathy, congenital, with tremor +2 more	GPathogenic
Select item 522829	NM_002465.4(MYBPC1):c.776T>C (p.Leu259Pro)	MYBPC1 (L259P +6 more)	Single nucleotide variant (missense variant)	MYBPC1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 435910	NM_002465.4(MYBPC1):c.2510T>G (p.Val837Gly)	MYBPC1 (V837G +7 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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
Select item 306725	NM_002465.4(MYBPC1):c.608+14A>G	MYBPC1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 258658	NM_002465.4(MYBPC1):c.1634-18del	MYBPC1	Deletion (intron variant)	Myopathy, congenital, with tremor +4 more	GBenign
Select item 225889	NM_002465.4(MYBPC1):c.742G>A (p.Glu248Lys)	MYBPC1 (E223K +6 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 211545	NM_002465.4(MYBPC1):c.594T>C (p.Ser198=)	MYBPC1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
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 129645	NM_002465.4(MYBPC1):c.2817A>G (p.Pro939=)	MYBPC1	Single nucleotide variant (synonymous variant)	not specified +4 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 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 39766	NM_002465.4(MYBPC1):c.952C>T (p.Arg318Ter)	MYBPC1 (R318* +6 more)	Single nucleotide variant (nonsense)	Myopathy, congenital, with tremor +1 more	GConflicting classifications of pathogenicity