"PreventionGenetics, part of Exact Sciences"[submitter] AND "MYBPC1"[g - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 306707	NM_002465.4(MYBPC1):c.17A>T (p.Lys6Met)	MYBPC1 (K6M)	Single nucleotide variant (missense variant)	MYBPC1-related disorder +1 more	GBenign/Likely benign
Select item 258662	NM_002465.4(MYBPC1):c.26-9C>T	MYBPC1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 306718	NM_002465.4(MYBPC1):c.178+7G>A	MYBPC1	Single nucleotide variant (intron variant)	MYBPC1-related disorder +1 more	GBenign/Likely benign
Select item 258659	NM_002465.4(MYBPC1):c.179-20_179-12del	MYBPC1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 258660	NM_002465.4(MYBPC1):c.191T>C (p.Val64Ala)	MYBPC1 (V64A +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 258664	NM_002465.4(MYBPC1):c.420C>T (p.Thr140=)	MYBPC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 722202	NM_002465.4(MYBPC1):c.524T>C (p.Phe175Ser)	MYBPC1 (F138S +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 129646	NM_002465.4(MYBPC1):c.556+10C>G	MYBPC1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 306724	NM_002465.4(MYBPC1):c.557-10C>T	MYBPC1	Single nucleotide variant (intron variant)	MYBPC1-related disorder +1 more	GBenign/Likely benign
Select item 211545	NM_002465.4(MYBPC1):c.594T>C (p.Ser198=)	MYBPC1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 3048611	NM_002465.4(MYBPC1):c.608+6T>C	MYBPC1	Single nucleotide variant (intron variant)	MYBPC1-related disorder	GLikely 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 635215	NM_002465.4(MYBPC1):c.788T>G (p.Leu263Arg)	MYBPC1 (L263R +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 1678745	NM_002465.4(MYBPC1):c.1053C>T (p.Ala351=)	LOC105369937, MYBPC1	Single nucleotide variant (synonymous variant)	MYBPC1-related disorder +1 more	GLikely benign
Select item 3048415	NM_002465.4(MYBPC1):c.1084G>A (p.Val362Ile)	LOC105369937, MYBPC1 (V292I +6 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MYBPC1-related disorder	GLikely benign
Select item 129641	NM_002465.4(MYBPC1):c.1386A>T (p.Thr462=)	MYBPC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 306732	NM_002465.4(MYBPC1):c.1457C>A (p.Pro486Gln)	MYBPC1 (P486Q +6 more)	Single nucleotide variant (missense variant)	MYBPC1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 129642	NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln)	MYBPC1 (H506Q +6 more)	Single nucleotide variant (missense variant)	Myopathy, congenital, with tremor +4 more	GBenign
Select item 258658	NM_002465.4(MYBPC1):c.1634-18del	MYBPC1	Deletion (intron variant)	not specified +4 more	GBenign
Select item 3043039	NM_002465.4(MYBPC1):c.1725C>T (p.Ser575=)	MYBPC1	Single nucleotide variant (synonymous variant)	MYBPC1-related disorder	GLikely benign
Select item 258661	NM_002465.4(MYBPC1):c.1928-19T>G	MYBPC1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 129643	NM_002465.4(MYBPC1):c.2010C>T (p.Tyr670=)	MYBPC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 129644	NM_002465.4(MYBPC1):c.2544T>C (p.Ile848=)	MYBPC1	Single nucleotide variant (synonymous variant)	Myopathy, congenital, with tremor +4 more	GBenign
Select item 2631717	NM_002465.4(MYBPC1):c.2676A>G (p.Ile892Met)	MYBPC1 (I822M +7 more)	Single nucleotide variant (missense variant)	MYBPC1-related disorder	GUncertain significance
Select item 258663	NM_002465.4(MYBPC1):c.2809+12T>C	MYBPC1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 129645	NM_002465.4(MYBPC1):c.2817A>G (p.Pro939=)	MYBPC1	Single nucleotide variant (synonymous variant)	Myopathy, congenital, with tremor +4 more	GBenign
Select item 2635914	NM_002465.4(MYBPC1):c.2902G>C (p.Ala968Pro)	MYBPC1 (A898P +7 more)	Single nucleotide variant (missense variant)	MYBPC1-related disorder +1 more	GUncertain significance
Select item 2633708	NM_002465.4(MYBPC1):c.3293C>T (p.Pro1098Leu)	MYBPC1 (P1028L +7 more)	Single nucleotide variant (missense variant)	MYBPC1-related disorder	GUncertain significance
Select item 882563	NM_002465.4(MYBPC1):c.3405G>T (p.Val1135=)	MYBPC1	Single nucleotide variant (synonymous variant)	MYBPC1-related disorder +1 more	GLikely benign
Select item 3045205	NM_002465.4(MYBPC1):c.*102C>T	MYBPC1	Single nucleotide variant (3 prime UTR variant +1 more)	MYBPC1-related disorder	GLikely benign

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Items: 30