"Color Diagnostics, LLC DBA Color Health"[submitter] AND "MYBPC3"[gene - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 927887	NM_000256.3(MYBPC3):c.3_15del	MYBPC3	Deletion (3 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 921368	NM_000256.3(MYBPC3):c.3824G>A (p.Ter1275=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 42746	NM_000256.3(MYBPC3):c.3815-1G>A	MYBPC3	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 578052	NM_000256.3(MYBPC3):c.3815-11_3815-9del	MYBPC3	Microsatellite (intron variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 42745	NM_000256.3(MYBPC3):c.3815-10T>G	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 880111	NM_000256.3(MYBPC3):c.3815-12C>T	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 629965	NM_000256.3(MYBPC3):c.3815-16del	MYBPC3	Deletion (intron variant)	Cardiomyopathy	GLikely benign
Select item 3893957	NM_000256.3(MYBPC3):c.3814+6G>A	MYBPC3	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 919413	NM_000256.3(MYBPC3):c.3812G>A (p.Arg1271Gln)	MYBPC3 (R1271Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 42744	NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter)	MYBPC3 (R1271*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy +7 more	GPathogenic/Likely pathogenic
Select item 880112	NM_000256.3(MYBPC3):c.3810G>A (p.Val1270=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 423792	NM_000256.3(MYBPC3):c.3808G>T (p.Val1270Leu)	MYBPC3 (V1270L)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 3893733	NM_000256.3(MYBPC3):c.3801C>A (p.Arg1267=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 512834	NM_000256.3(MYBPC3):c.3801C>T (p.Arg1267=)	MYBPC3	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 180415	NM_000256.3(MYBPC3):c.3800G>A (p.Arg1267His)	MYBPC3 (R1267H)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 2773697	NM_000256.3(MYBPC3):c.3799C>G (p.Arg1267Gly)	MYBPC3 (R1267G)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 407316	NM_000256.3(MYBPC3):c.3799C>T (p.Arg1267Cys)	MYBPC3 (R1267C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +6 more	GUncertain significance
Select item 1332012	NM_000256.3(MYBPC3):c.3790T>C (p.Cys1264Arg)	MYBPC3 (C1264R)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 181026	NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp)	MYBPC3 (R1263W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +6 more	GConflicting classifications of pathogenicity
Select item 1156135	NM_000256.3(MYBPC3):c.3783G>A (p.Glu1261=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 180414	NM_000256.3(MYBPC3):c.3781G>A (p.Glu1261Lys)	MYBPC3 (E1261K)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 953346	NM_000256.3(MYBPC3):c.3780C>T (p.Gly1260=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 227570	NM_000256.3(MYBPC3):c.3777G>A (p.Gln1259=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +4 more	GLikely benign
Select item 629803	NM_000256.3(MYBPC3):c.3765C>G (p.Ala1255=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 164023	NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr)	MYBPC3 (A1255T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 8603	NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)	MYBPC3	Duplication (inframe_insertion)	Primary familial hypertrophic cardiomyopathy +6 more	GPathogenic
Select item 1332471	NM_000256.3(MYBPC3):c.3750C>G (p.Ile1250Met)	MYBPC3 (I1250M)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 782775	NM_000256.3(MYBPC3):c.3747C>G (p.Gly1249=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 42739	NM_000256.3(MYBPC3):c.3742G>A (p.Gly1248Arg)	MYBPC3 (G1248R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +6 more	GUncertain significance
Select item 188589	NM_000256.3(MYBPC3):c.3741C>T (p.Asp1247=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 4 +4 more	GConflicting classifications of pathogenicity
Select item 919502	NM_000256.3(MYBPC3):c.3731G>A (p.Cys1244Tyr)	MYBPC3 (C1244Y)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 628483	NM_000256.3(MYBPC3):c.3723A>G (p.Arg1241=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 427206	NM_000256.3(MYBPC3):c.3716A>G (p.Glu1239Gly)	MYBPC3 (E1239G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 42734	NM_000256.3(MYBPC3):c.3705G>A (p.Val1235=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 518915	NM_000256.3(MYBPC3):c.3703G>T (p.Val1235Leu)	MYBPC3 (V1235L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 42736	NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 42735	NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)	MYBPC3 (Q1233*)	Single nucleotide variant (nonsense)	See cases +8 more	GPathogenic/Likely pathogenic
Select item 2773698	NM_000256.3(MYBPC3):c.3689del (p.Phe1230fs)	MYBPC3 (F1230fs)	Deletion (frameshift variant)	Cardiomyopathy +1 more	GPathogenic
Select item 2773699	NM_000256.3(MYBPC3):c.3686T>C (p.Met1229Thr)	MYBPC3 (M1229T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 924401	NM_000256.3(MYBPC3):c.3686T>A (p.Met1229Lys)	MYBPC3 (M1229K)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 649564	NM_000256.3(MYBPC3):c.3683G>A (p.Arg1228His)	MYBPC3 (R1228H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 161306	NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys)	MYBPC3 (R1228C)	Single nucleotide variant (missense variant)	MYBPC3-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 2758915	NM_000256.3(MYBPC3):c.3675C>T (p.Ala1225=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 636766	NM_000256.3(MYBPC3):c.3673G>A (p.Ala1225Thr)	MYBPC3 (A1225T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 42730	NM_000256.3(MYBPC3):c.3672C>T (p.Asp1224=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 921046	NM_000256.3(MYBPC3):c.3662T>C (p.Leu1221Pro)	MYBPC3 (L1221P)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 919748	NM_000256.3(MYBPC3):c.3658G>A (p.Asp1220Asn)	MYBPC3 (D1220N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 414442	NM_000256.3(MYBPC3):c.3657G>T (p.Leu1219=)	MYBPC3	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 3894050	NM_000256.3(MYBPC3):c.3653_3654delinsTG (p.Gly1218Val)	MYBPC3 (G1218V)	Indel (missense variant)	Cardiomyopathy	GUncertain significance
Select item 520306	NM_000256.3(MYBPC3):c.3654C>T (p.Gly1218=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 227569	NM_000256.3(MYBPC3):c.3651T>C (p.Asn1217=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 162506	NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)	MYBPC3 (W1214*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 1172045	NM_000256.3(MYBPC3):c.3633G>T (p.Lys1211Asn)	MYBPC3 (K1211N)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 919132	NM_000256.3(MYBPC3):c.3628C>A (p.Pro1210Thr)	MYBPC3 (P1210T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 177677	NC_000011.10:g.47332282_47332306del	MYBPC3	Deletion	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 923337	NM_000256.3(MYBPC3):c.3628-35G>C	MYBPC3	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 42728	NM_000256.3(MYBPC3):c.3627+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	Cardiomyopathy +4 more	GPathogenic
Select item 42727	NM_000256.3(MYBPC3):c.3624delC	MYBPC3	Deletion	Primary familial hypertrophic cardiomyopathy +4 more	GPathogenic
Select item 878342	NM_000256.3(MYBPC3):c.3615G>C (p.Arg1205=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 181014	NM_000256.3(MYBPC3):c.3614G>A (p.Arg1205Gln)	MYBPC3 (R1205Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 164032	NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp)	MYBPC3 (R1205W)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 629680	NM_000256.3(MYBPC3):c.3606T>C (p.Cys1202=)	MYBPC3	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 407314	NM_000256.3(MYBPC3):c.3605G>C (p.Cys1202Ser)	MYBPC3 (C1202S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +5 more	GUncertain significance
Select item 2144052	NM_000256.3(MYBPC3):c.3596T>C (p.Met1199Thr)	MYBPC3 (M1199T)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 923687	NM_000256.3(MYBPC3):c.3595A>G (p.Met1199Val)	MYBPC3 (M1199V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 181012	NM_000256.3(MYBPC3):c.3581C>T (p.Ala1194Val)	MYBPC3 (A1194V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 42723	NM_000256.3(MYBPC3):c.3580G>A (p.Ala1194Thr)	MYBPC3 (A1194T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 669104	NM_000256.3(MYBPC3):c.3579C>T (p.Ile1193=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GLikely benign
Select item 454329	NM_000256.3(MYBPC3):c.3573G>A (p.Ser1191=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +5 more	GBenign/Likely 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 42722	NM_000256.3(MYBPC3):c.3569G>A (p.Arg1190His)	MYBPC3 (R1190H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +5 more	GUncertain significance
Select item 454328	NM_000256.3(MYBPC3):c.3568C>T (p.Arg1190Cys)	MYBPC3 (R1190C)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 927855	NM_000256.3(MYBPC3):c.3564G>T (p.Val1188=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 923334	NM_000256.3(MYBPC3):c.3555G>T (p.Gln1185His)	MYBPC3 (Q1185H)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 188585	NM_000256.3(MYBPC3):c.3547T>C (p.Phe1183Leu)	MYBPC3 (F1183L)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2773701	NM_000256.3(MYBPC3):c.3544A>C (p.Ser1182Arg)	MYBPC3 (S1182R)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 1331768	NM_000256.3(MYBPC3):c.3538G>A (p.Ala1180Thr)	MYBPC3 (A1180T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 42719	NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys)	MYBPC3 (E1179K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 927475	NM_000256.3(MYBPC3):c.3531C>G (p.Phe1177Leu)	MYBPC3 (F1177L)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 924416	NM_000256.3(MYBPC3):c.3519G>A (p.Lys1173=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 925756	NM_000256.3(MYBPC3):c.3518A>G (p.Lys1173Arg)	MYBPC3 (K1173R)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 1171402	NM_000256.3(MYBPC3):c.3514T>C (p.Tyr1172His)	MYBPC3 (Y1172H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 924298	NM_000256.3(MYBPC3):c.3512A>G (p.Asn1171Ser)	MYBPC3 (N1171S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 926708	NM_000256.3(MYBPC3):c.3506C>T (p.Pro1169Leu)	MYBPC3 (P1169L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 921208	NM_000256.3(MYBPC3):c.3498C>G (p.Thr1166=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 520380	NM_000256.3(MYBPC3):c.3492C>T (p.Gly1164=)	MYBPC3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 924123	NM_000256.3(MYBPC3):c.3491-14C>A	MYBPC3	Single nucleotide variant (intron variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 42716	NM_000256.3(MYBPC3):c.3490+6G>A	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 923071	NM_000256.3(MYBPC3):c.3490+3G>A	MYBPC3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 181008	NM_000256.3(MYBPC3):c.3490+1G>T	MYBPC3	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 3387091	NM_000256.3(MYBPC3):c.3489_3490del (p.Gly1164fs)	MYBPC3 (G1164fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy +1 more	GPathogenic
Select item 920667	NM_000256.3(MYBPC3):c.3490G>C (p.Gly1164Arg)	MYBPC3 (G1164R)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 177812	NM_000256.3(MYBPC3):c.3472G>A (p.Val1158Ile)	MYBPC3 (V1158I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 759993	NM_000256.3(MYBPC3):c.3471C>T (p.Pro1157=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 665254	NM_000256.3(MYBPC3):c.3470C>T (p.Pro1157Leu)	MYBPC3 (P1157L)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 919886	NM_000256.3(MYBPC3):c.3457A>G (p.Thr1153Ala)	MYBPC3 (T1153A)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 810763	NM_000256.3(MYBPC3):c.3452C>T (p.Ala1151Val)	MYBPC3 (A1151V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +4 more	GUncertain significance
Select item 927856	NM_000256.3(MYBPC3):c.3446A>T (p.Asp1149Val)	MYBPC3 (D1149V)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 928449	NM_000256.3(MYBPC3):c.3445G>A (p.Asp1149Asn)	MYBPC3 (D1149N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2773702	NM_000256.3(MYBPC3):c.3438C>T (p.Gly1146=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity

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