"PreventionGenetics, part of Exact Sciences"[submitter] AND "MYBPC3"[g - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 42736	NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=)	MYBPC3	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 42730	NM_000256.3(MYBPC3):c.3672C>T (p.Asp1224=)	MYBPC3	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 162506	NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)	MYBPC3 (W1214*)	Single nucleotide variant (nonsense)	MYBPC3-related disorder +8 more	GPathogenic/Likely pathogenic
Select item 177677	NM_000256.3(MYBPC3):c.3628-41_3628-17del	MYBPC3	Deletion	MYBPC3-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 255625	NM_000256.3(MYBPC3):c.3627+49C>T	MYBPC3	Single nucleotide variant	not provided +1 more	GBenign
Select item 669104	NM_000256.3(MYBPC3):c.3579C>T (p.Ile1193=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +4 more	GLikely benign
Select item 524959	NM_000256.3(MYBPC3):c.3572C>T (p.Ser1191Leu)	MYBPC3 (S1191L)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 923071	NM_000256.3(MYBPC3):c.3490+3G>A	MYBPC3	Single nucleotide variant (intron variant)	MYBPC3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 42703	NM_000256.3(MYBPC3):c.3315C>A (p.Ala1105=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 704642	NM_000256.3(MYBPC3):c.3297G>A (p.Gly1099=)	MYBPC3	Single nucleotide variant (synonymous variant)	MYBPC3-related disorder +3 more	GLikely benign
Select item 42700	NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GBenign
Select item 188579	NM_000256.3(MYBPC3):c.3279C>T (p.Gly1093=)	MYBPC3	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 178063	NM_000256.3(MYBPC3):c.3276C>T (p.Val1092=)	MYBPC3	Single nucleotide variant (synonymous variant)	MYBPC3-related disorder +4 more	GBenign/Likely benign
Select item 42695	NM_000256.3(MYBPC3):c.3229G>A (p.Ala1077Thr)	MYBPC3 (A1077T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 188578	NM_000256.3(MYBPC3):c.3191-21A>G	MYBPC3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 42687	NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=)	MYBPC3	Single nucleotide variant (synonymous variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 42674	NM_000256.3(MYBPC3):c.2997C>T (p.Gly999=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +4 more	GBenign/Likely benign
Select item 2630916	NM_000256.3(MYBPC3):c.2957_2958insT (p.Lys986fs)	MYBPC3 (K986fs)	Insertion (frameshift variant)	MYBPC3-related disorder	GLikely pathogenic
Select item 42664	NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile)	MYBPC3 (T958I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 188571	NM_000256.3(MYBPC3):c.2808G>A (p.Thr936=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +4 more	GBenign/Likely benign
Select item 42653	NM_000256.3(MYBPC3):c.2737+12C>T	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +4 more	GBenign
Select item 42652	NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met)	MYBPC3 (V896M)	Single nucleotide variant (missense variant)	not provided +9 more	GBenign/Likely benign
Select item 177884	NM_000256.3(MYBPC3):c.2672G>A (p.Arg891Gln)	MYBPC3 (R891Q)	Single nucleotide variant (missense variant)	MYBPC3-related disorder +7 more	GUncertain significance
Select item 42648	NM_000256.3(MYBPC3):c.2640C>T (p.Asp880=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 42647	NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys)	MYBPC3 (E872K)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +8 more	GBenign/Likely benign
Select item 42645	NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=)	MYBPC3	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 10 +6 more	GBenign/Likely benign
Select item 42638	NM_000256.3(MYBPC3):c.2547C>T (p.Val849=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +6 more	GBenign
Select item 2773717	NM_000256.3(MYBPC3):c.2544G>T (p.Ala848=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 164075	NM_000256.3(MYBPC3):c.2517C>T (p.Gly839=)	MYBPC3	Single nucleotide variant (synonymous variant)	MYBPC3-related disorder +4 more	GLikely benign
Select item 42627	NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val)	MYBPC3 (A833V)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GBenign/Likely benign
Select item 217484	NM_000256.3(MYBPC3):c.2376G>A (p.Trp792Ter)	MYBPC3 (W792*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4 +2 more	GPathogenic/Likely pathogenic
Select item 188566	NM_000256.3(MYBPC3):c.2308+18C>G	MYBPC3	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 42606	NM_000256.3(MYBPC3):c.2196C>T (p.Asp732=)	MYBPC3	Single nucleotide variant (synonymous variant)	MYBPC3-related disorder +4 more	GLikely benign
Select item 42600	NM_000256.3(MYBPC3):c.2149-8C>G	MYBPC3	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3031771	NM_000256.3(MYBPC3):c.2149-73C>G	MYBPC3	Single nucleotide variant (intron variant)	MYBPC3-related disorder	GLikely benign
Select item 264604	NM_000256.3(MYBPC3):c.2064G>A (p.Thr688=)	MYBPC3	Single nucleotide variant (synonymous variant)	MYBPC3-related disorder +4 more	GLikely benign
Select item 228865	NM_000256.3(MYBPC3):c.2011G>A (p.Val671Ile)	MYBPC3 (V671I)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 138318	NM_000256.3(MYBPC3):c.1989T>A (p.Ala663=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 3048413	NM_000256.3(MYBPC3):c.1927+590G>C	MYBPC3	Single nucleotide variant (intron variant)	MYBPC3-related disorder	GLikely benign
Select item 180959	NM_000256.3(MYBPC3):c.1927+3A>C	MYBPC3	Single nucleotide variant	not provided +3 more	GUncertain significance
Select item 161303	NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys)	MYBPC3 (E619K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +7 more	GConflicting classifications of pathogenicity
Select item 42572	NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn)	MYBPC3 (D605N)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +6 more	GConflicting classifications of pathogenicity
Select item 42564	NM_000256.3(MYBPC3):c.1778C>T (p.Ser593Phe)	MYBPC3 (S593F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 915724	NM_000256.3(MYBPC3):c.1696T>A (p.Cys566Ser)	MYBPC3 (C566S)	Single nucleotide variant (missense variant)	MYBPC3-related disorder +3 more	GUncertain significance
Select item 164105	NM_000256.3(MYBPC3):c.1633C>A (p.Leu545Met)	MYBPC3 (L545M)	Single nucleotide variant (missense variant)	MYBPC3-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 42549	NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 42545	NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr)	MYBPC3 (A522T)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 42543	NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg)	MYBPC3 (G507R)	Single nucleotide variant (missense variant)	Familial amyloid neuropathy +7 more	GConflicting classifications of pathogenicity
Select item 42536	NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg)	MYBPC3 (G490R)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +7 more	GUncertain significance
Select item 42535	NM_000256.3(MYBPC3):c.1467C>T (p.Asp489=)	MYBPC3	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 42532	NM_000256.3(MYBPC3):c.1458-1G>A	MYBPC3	Single nucleotide variant (splice acceptor variant)	not provided +4 more	GPathogenic
Select item 923874	NM_000256.3(MYBPC3):c.1352-5G>A	MYBPC3	Single nucleotide variant (intron variant)	MYBPC3-related disorder +2 more	GLikely benign
Select item 255624	NM_000256.3(MYBPC3):c.1352-16C>T	MYBPC3	Single nucleotide variant	not specified +1 more	GLikely benign
Select item 164121	NM_000256.3(MYBPC3):c.1335G>A (p.Thr445=)	MYBPC3	Single nucleotide variant (synonymous variant)	MYBPC3-related disorder +5 more	GLikely benign
Select item 42519	NM_000256.3(MYBPC3):c.1290C>T (p.Asp430=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +4 more	GLikely benign
Select item 178934	NM_000256.3(MYBPC3):c.1227-10C>T	MYBPC3	Single nucleotide variant (intron variant)	MYBPC3-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1171645	NM_000256.3(MYBPC3):c.1224-61_1224-53dup	MYBPC3	Duplication (intron variant)	MYBPC3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 188544	NM_000256.3(MYBPC3):c.1224-52G>A	MYBPC3	Single nucleotide variant (intron variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 188543	NM_000256.3(MYBPC3):c.1223+29G>A	MYBPC3	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 179988	NM_000256.3(MYBPC3):c.1219G>A (p.Gly407Ser)	MYBPC3 (G407S)	Single nucleotide variant (missense variant)	MYBPC3-related disorder +4 more	GUncertain significance
Select item 42506	NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp)	MYBPC3 (R382W)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 188541	NM_000256.3(MYBPC3):c.1091-24C>T	MYBPC3	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 255623	NM_000256.3(MYBPC3):c.1091-31G>A	MYBPC3	Single nucleotide variant	not specified +1 more	GBenign
Select item 454301	NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr)	MYBPC3 (A364T)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 407328	NM_000256.3(MYBPC3):c.1072G>A (p.Asp358Asn)	MYBPC3 (D358N)	Single nucleotide variant (missense variant)	MYBPC3-related disorder +3 more	GUncertain significance
Select item 181145	NM_000256.3(MYBPC3):c.1070G>A (p.Arg357His)	MYBPC3 (R357H)	Single nucleotide variant (missense variant)	MYBPC3-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 42502	NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser)	MYBPC3 (G347S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 161310	NM_000256.3(MYBPC3):c.961G>A (p.Val321Met)	MYBPC3 (V321M)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 42801	NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs)	MYBPC3	Deletion	Hypertrophic cardiomyopathy 4 +7 more	GPathogenic/Likely pathogenic
Select item 188538	NM_000256.3(MYBPC3):c.909C>T (p.Asp303=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +4 more	GBenign/Likely benign
Select item 42800	NM_000256.3(MYBPC3):c.906-7G>T	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 3058358	NM_000256.3(MYBPC3):c.906-37C>T	MYBPC3	Single nucleotide variant (intron variant)	MYBPC3-related disorder	GLikely benign
Select item 1645813	NM_000256.3(MYBPC3):c.821+8G>A	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 42791	NM_000256.3(MYBPC3):c.821+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	SUDDEN INFANT DEATH SYNDROME +9 more	GPathogenic
Select item 42793	NM_000256.3(MYBPC3):c.786C>T (p.Thr262=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign
Select item 1158331	NM_000256.3(MYBPC3):c.772+9G>A	MYBPC3	Single nucleotide variant (intron variant)	MYBPC3-related disorder +1 more	GLikely benign
Select item 181047	NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His)	MYBPC3 (Y237H)	Single nucleotide variant (missense variant)	MYBPC3-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 42786	NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly)	MYBPC3 (S236G)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GBenign/Likely benign
Select item 42785	NM_000256.3(MYBPC3):c.667G>A (p.Glu223Lys)	MYBPC3 (E223K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 181046	NM_000256.3(MYBPC3):c.604A>C (p.Lys202Gln)	MYBPC3 (K202Q)	Single nucleotide variant (missense variant)	MYBPC3-related disorder +5 more	GUncertain significance
Select item 42772	NM_000256.3(MYBPC3):c.558G>T (p.Pro186=)	MYBPC3	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 42768	NM_000256.3(MYBPC3):c.537C>T (p.Ala179=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign
Select item 42763	NM_000256.3(MYBPC3):c.506-12del	MYBPC3	Deletion (intron variant)	Cardiomyopathy +6 more	GBenign/Likely benign
Select item 264628	NM_000256.3(MYBPC3):c.505G>A (p.Gly169Ser)	MYBPC3 (G169S)	Single nucleotide variant (missense variant)	MYBPC3-related disorder +2 more	GUncertain significance
Select item 42761	NM_000256.3(MYBPC3):c.501C>T (p.Thr167=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 42760	NM_000256.3(MYBPC3):c.492C>T (p.Gly164=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +6 more	GBenign/Likely benign
Select item 42758	NM_000256.3(MYBPC3):c.472G>A (p.Val158Met)	MYBPC3 (V158M)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +6 more	GBenign
Select item 42623	NM_000256.3(MYBPC3):c.246T>C (p.Ile82=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 454313	NM_000256.3(MYBPC3):c.237C>T (p.Tyr79=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 4 +5 more	GConflicting classifications of pathogenicity
Select item 2582595	NM_000256.3(MYBPC3):c.226C>T (p.Gln76Ter)	MYBPC3 (Q76*)	Single nucleotide variant (nonsense)	Left ventricular noncompaction 10 +2 more	GPathogenic
Select item 161313	NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn)	MYBPC3 (D75N)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 219730	NM_000256.3(MYBPC3):c.162del (p.Lys54fs)	MYBPC3 (K54fs)	Deletion (frameshift variant)	Cardiomyopathy +2 more	GPathogenic
Select item 696024	NM_000256.3(MYBPC3):c.150C>T (p.Ser50=)	MYBPC3	Single nucleotide variant (synonymous variant)	not specified +7 more	GLikely benign
Select item 517831	NM_000256.3(MYBPC3):c.147C>T (p.Ile49=)	MYBPC3	Single nucleotide variant (synonymous variant)	MYBPC3-related disorder +4 more	GLikely benign
Select item 42524	NM_000256.3(MYBPC3):c.132C>T (p.Arg44=)	MYBPC3	Single nucleotide variant (synonymous variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 42811	NM_000256.3(MYBPC3):c.93C>T (p.Ala31=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 42644	NM_000256.3(MYBPC3):c.26-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy 4 +7 more	GPathogenic/Likely pathogenic
Select item 758937	NM_000256.3(MYBPC3):c.25+10G>A	MYBPC3	Single nucleotide variant (intron variant)	MYBPC3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 42521	NM_000256.3(MYBPC3):c.12G>A (p.Pro4=)	MYBPC3	Single nucleotide variant (synonymous variant)	MYBPC3-related disorder +6 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 99