"Color Diagnostics, LLC DBA Color Health"[submitter] AND "LOC126861898 - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2773946	NM_000257.4(MYH7):c.2679+6G>A	LOC126861898, MYH7	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 920554	NM_000257.4(MYH7):c.2677G>T (p.Ala893Ser)	LOC126861898, MYH7 (A893S)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 918999	NM_000257.4(MYH7):c.2677G>A (p.Ala893Thr)	LOC126861898, MYH7 (A893T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +8 more	GUncertain significance
Select item 667128	NM_000257.4(MYH7):c.2658C>T (p.Asp886=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 926111	NM_000257.4(MYH7):c.2653A>T (p.Asn885Tyr)	LOC126861898, MYH7 (N885Y)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 925796	NM_000257.4(MYH7):c.2646G>A (p.Gln882=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 1171083	NM_000257.4(MYH7):c.2641C>T (p.Leu881=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 2773947	NM_000257.4(MYH7):c.2640G>A (p.Leu880=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 922471	NM_000257.4(MYH7):c.2640G>C (p.Leu880=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 921833	NM_000257.4(MYH7):c.2638C>T (p.Leu880=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 42920	NM_000257.4(MYH7):c.2637C>T (p.Ser879=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GLikely benign
Select item 573352	NM_000257.4(MYH7):c.2631G>C (p.Met877Ile)	LOC126861898, MYH7 (M877I)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 161326	NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)	LOC126861898, MYH7 (R870C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 924522	NM_000257.4(MYH7):c.2607C>T (p.Arg869=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 177667	NM_000257.4(MYH7):c.2606G>A (p.Arg869His)	LOC126861898, MYH7 (R869H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 181196	NM_000257.4(MYH7):c.2605C>T (p.Arg869Cys)	LOC126861898, MYH7 (R869C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 177847	NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro)	LOC126861898, MYH7 (A868P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 164323	NM_000257.4(MYH7):c.2599G>A (p.Glu867Lys)	LOC126861898, MYH7 (E867K)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 920319	NM_000257.4(MYH7):c.2598C>T (p.Ser866=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 919938	NM_000257.4(MYH7):c.2597C>A (p.Ser866Tyr)	LOC126861898, MYH7 (S866Y)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 454358	NM_000257.4(MYH7):c.2594A>T (p.Lys865Met)	LOC126861898, MYH7 (K865M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 919581	NM_000257.4(MYH7):c.2587C>A (p.Leu863Ile)	LOC126861898, MYH7 (L863I)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 923644	NM_000257.4(MYH7):c.2586G>A (p.Ala862=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 36636	NM_000257.4(MYH7):c.2585C>T (p.Ala862Val)	LOC126861898, MYH7 (A862V)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 525026	NM_000257.4(MYH7):c.2582A>G (p.Glu861Gly)	LOC126861898, MYH7 (E861G)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GUncertain significance
Select item 1171804	NM_000257.4(MYH7):c.2579A>G (p.Lys860Arg)	LOC126861898, MYH7 (K860R)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 177696	NM_000257.4(MYH7):c.2573G>A (p.Arg858His)	LOC126861898, MYH7 (R858H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 164324	NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)	LOC126861898, MYH7 (R858C)	Single nucleotide variant (missense variant)	MYH7-related skeletal myopathy +10 more	GPathogenic/Likely pathogenic
Select item 42917	NM_000257.4(MYH7):c.2570C>T (p.Thr857Ile)	LOC126861898, MYH7 (T857I)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 1174821	NM_000257.4(MYH7):c.2562G>T (p.Glu854Asp)	LOC126861898, MYH7 (E854D)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 567905	NM_000257.4(MYH7):c.2556G>A (p.Met852Ile)	LOC126861898, MYH7 (M852I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 42915	NM_000257.4(MYH7):c.2553C>A (p.Ser851=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 403207	NM_000257.4(MYH7):c.2548G>A (p.Ala850Thr)	LOC126861898, MYH7 (A850T)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 181194	NM_000257.4(MYH7):c.2536G>C (p.Glu846Gln)	LOC126861898, MYH7 (E846Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 181161	NM_000257.4(MYH7):c.2526T>C (p.Ser842=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	MYH7-related skeletal myopathy +8 more	GConflicting classifications of pathogenicity
Select item 629474	NM_000257.4(MYH7):c.2525G>C (p.Ser842Thr)	LOC126861898, MYH7 (S842T)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 922991	NM_000257.4(MYH7):c.2523G>A (p.Lys841=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 42911	NM_000257.4(MYH7):c.2514G>A (p.Pro838=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 235030	NM_000257.4(MYH7):c.2508C>G (p.Ile836Met)	LOC126861898, MYH7 (I836M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GUncertain significance
Select item 42908	NM_000257.4(MYH7):c.2499C>T (p.Tyr833=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 518034	NM_000257.4(MYH7):c.2484C>G (p.Pro828=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 418361	NM_000257.4(MYH7):c.2455C>T (p.Arg819Trp)	LOC126861898, MYH7 (R819W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 42904	NM_000257.4(MYH7):c.2425G>T (p.Asp809Tyr)	LOC126861898, MYH7 (D809Y)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 919292	NM_000257.4(MYH7):c.2424-1G>T	LOC126861898, MYH7	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy	GUncertain significance
Select item 919032	NM_000257.4(MYH7):c.2424-6del	LOC126861898, MYH7	Deletion (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 882969	NM_000257.4(MYH7):c.2424-7C>T	LOC126861898, MYH7	Single nucleotide variant (intron variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 1429964	NM_000257.4(MYH7):c.2424-8C>A	LOC126861898, MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 519199	NM_000257.4(MYH7):c.2423+1G>A	LOC126861898, MYH7	Single nucleotide variant (splice donor variant)	not provided +3 more	GUncertain significance
Select item 391904	NM_000257.4(MYH7):c.2420G>A (p.Arg807His)	LOC126861898, MYH7 (R807H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1655931	NM_000257.4(MYH7):c.2403C>T (p.Tyr801=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 181183	NM_000257.4(MYH7):c.2400G>T (p.Glu800Asp)	LOC126861898, MYH7 (E800D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 42901	NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	LOC126861898, MYH7 (A797T)	Single nucleotide variant (missense variant)	MYH7-related skeletal myopathy +18 more	GPathogenic/Likely pathogenic
Select item 42899	NM_000257.4(MYH7):c.2388C>T (p.Leu796=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 574743	NM_000257.4(MYH7):c.2377C>T (p.Arg793Ter)	LOC126861898, MYH7 (R793*)	Single nucleotide variant (nonsense)	Cardiomyopathy +4 more	GUncertain significance
Select item 42900	NM_000257.4(MYH7):c.2360G>A (p.Arg787His)	LOC126861898, MYH7 (R787H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely benign FDA Recognized database
Select item 161327	NM_000257.4(MYH7):c.2359C>T (p.Arg787Cys)	LOC126861898, MYH7 (R787C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +7 more	GConflicting classifications of pathogenicity
Select item 164334	NM_000257.4(MYH7):c.2358G>T (p.Thr786=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 42898	NM_000257.4(MYH7):c.2358G>A (p.Thr786=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 2773948	NM_000257.4(MYH7):c.2357C>A (p.Thr786Lys)	LOC126861898, MYH7 (T786K)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 924385	NM_000257.4(MYH7):c.2356A>G (p.Thr786Ala)	LOC126861898, MYH7 (T786A)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1332055	NM_000257.4(MYH7):c.2355C>T (p.Ile785=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 42897	NM_000257.4(MYH7):c.2352C>T (p.Ile784=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 42896	NM_000257.4(MYH7):c.2349C>T (p.Arg783=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	not specified +9 more	GBenign/Likely benign
Select item 454355	NM_000257.4(MYH7):c.2348G>T (p.Arg783Leu)	LOC126861898, MYH7 (R783L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 180437	NM_000257.4(MYH7):c.2348G>A (p.Arg783His)	LOC126861898, MYH7 (R783H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 181182	NM_000257.4(MYH7):c.2347C>T (p.Arg783Cys)	LOC126861898, MYH7 (R783C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 42894	NM_000257.4(MYH7):c.2334C>T (p.Asp778=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +8 more	GConflicting classifications of pathogenicity
Select item 700933	NM_000257.4(MYH7):c.2305C>T (p.Leu769=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 629526	NM_000257.4(MYH7):c.2301C>T (p.Ala767=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 919583	NM_000257.4(MYH7):c.2295C>T (p.Phe765=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 2773949	NM_000257.4(MYH7):c.2289G>A (p.Val763=)	LOC126861898, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 177642	NM_000257.4(MYH7):c.2287G>A (p.Val763Met)	LOC126861898, MYH7 (V763M)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 919389	NM_000257.4(MYH7):c.2287-4G>A	LOC126861898, MYH7	Single nucleotide variant (intron variant)	Cardiomyopathy +2 more	GLikely benign

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Items: 73