"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 537966	NM_002471.4(MYH6):c.5653G>A (p.Glu1885Lys)	MYH6 (E1885K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +3 more	GUncertain significance
Select item 312839	NM_002471.4(MYH6):c.5652C>T (p.Ala1884=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +4 more	GConflicting classifications of pathogenicity
Select item 807071	NM_002471.4(MYH6):c.5427A>C (p.Gly1809=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1285120	NM_002471.4(MYH6):c.5407G>C (p.Glu1803Gln)	MYH6 (E1803Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 44535	NM_002471.4(MYH6):c.5400C>T (p.Asp1800=)	MYH6	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 44533	NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr)	MYH6 (A1765T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +9 more	GConflicting classifications of pathogenicity
Select item 698130	NM_002471.4(MYH6):c.5292C>T (p.Ala1764=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +2 more	GLikely benign
Select item 227592	NM_002471.4(MYH6):c.5112G>A (p.Ala1704=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +3 more	GBenign/Likely benign
Select item 44529	NM_002471.4(MYH6):c.4986G>A (p.Ala1662=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 36631	NM_002471.4(MYH6):c.4959+13G>A	MYH6, LOC126861896	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 44527	NM_002471.4(MYH6):c.4959+12C>T	LOC126861896, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +1 more	GLikely benign
Select item 1284546	NM_002471.4(MYH6):c.4955T>C (p.Leu1652Pro)	LOC126861896, MYH6 (L1652P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 44525	NM_002471.4(MYH6):c.4906C>T (p.Arg1636Cys)	LOC126861896, MYH6 (R1636C)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 178065	NM_002471.4(MYH6):c.4905C>T (p.Asn1635=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +3 more	GConflicting classifications of pathogenicity
Select item 44524	NM_002471.4(MYH6):c.4899C>T (p.His1633=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign
Select item 44522	NM_002471.4(MYH6):c.4838T>C (p.Val1613Ala)	LOC126861896, MYH6 (V1613A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 470545	NM_002471.4(MYH6):c.4833C>T (p.Asn1611=)	MYH6, LOC126861896	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +6 more	GLikely benign
Select item 44521	NM_002471.4(MYH6):c.4782G>A (p.Arg1594=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 44520	NM_002471.4(MYH6):c.4778A>T (p.Gln1593Leu)	LOC126861896, MYH6 (Q1593L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign
Select item 1284976	NM_002471.4(MYH6):c.4651-7T>A	LOC126861896, MYH6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 36630	NM_002471.4(MYH6):c.4651-12A>C	MYH6, LOC126861896	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +2 more	GBenign
Select item 239175	NM_002471.4(MYH6):c.4594C>T (p.Arg1532Cys)	MYH6 (R1532C)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 44515	NM_002471.4(MYH6):c.4527G>A (p.Glu1509=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 191711	NM_002471.4(MYH6):c.4429C>T (p.Arg1477Cys)	MYH6 (R1477C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +6 more	GUncertain significance
Select item 44512	NM_002471.4(MYH6):c.4395G>A (p.Ser1465=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +2 more	GBenign
Select item 191712	NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln)	MYH6 (R1398Q)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 227589	NM_002471.4(MYH6):c.4137G>A (p.Thr1379=)	MYH6	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 180425	NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met)	MYH6 (T1379M)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 1284471	NM_002471.4(MYH6):c.4059A>G (p.Thr1353=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 44501	NM_002471.4(MYH6):c.4011G>A (p.Ser1337=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 646916	NM_002471.4(MYH6):c.4010C>T (p.Ser1337Leu)	MYH6 (S1337L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 44497	NM_002471.4(MYH6):c.3979-7_3979-5del	MYH6	Deletion (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 179076	NM_002471.4(MYH6):c.3979-7dup	MYH6	Duplication	not specified +3 more	GBenign/Likely benign
Select item 179575	NM_002471.4(MYH6):c.3979-8dup	MYH6	Duplication (intron variant)	Hypertrophic cardiomyopathy 14 +5 more	GConflicting classifications of pathogenicity
Select item 1285119	NC_000014.9:g.23389063G>T	MYH6	Single nucleotide variant	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 414324	NM_002471.4(MYH6):c.3979-9C>A	MYH6	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 239171	NM_002471.4(MYH6):c.3979-9C>G	MYH6	Single nucleotide variant (intron variant)	Cardiomyopathy +2 more	GBenign
Select item 312856	NM_002471.4(MYH6):c.3979-10C>A	MYH6	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 1284476	NM_002471.4(MYH6):c.3979-11C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 312857	NM_002471.4(MYH6):c.3979-11C>G	MYH6	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 312859	NM_002471.4(MYH6):c.3979-14C>A	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +2 more	GBenign/Likely benign
Select item 977733	NM_002471.4(MYH6):c.3979-15C>A	MYH6	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 44496	NM_002471.4(MYH6):c.3978+8C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +2 more	GBenign/Likely benign
Select item 44494	NM_002471.4(MYH6):c.3927T>C (p.Ser1309=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +3 more	GBenign/Likely benign
Select item 44493	NM_002471.4(MYH6):c.3903G>A (p.Ser1301=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +8 more	GBenign/Likely benign
Select item 44492	NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln)	MYH6 (E1295Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 44491	NM_002471.4(MYH6):c.3860-15T>G	MYH6	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 391412	NM_002471.4(MYH6):c.3732+13C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1 +5 more	GLikely benign
Select item 312861	NM_002471.4(MYH6):c.3583C>T (p.Arg1195Cys)	MYH6 (R1195C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 180116	NM_002471.4(MYH6):c.3573C>T (p.Ala1191=)	MYH6	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 520300	NM_002471.4(MYH6):c.3468C>T (p.Gly1156=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +1 more	GLikely benign
Select item 1285156	NM_002471.4(MYH6):c.3252-15A>C	MYH6	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 14149	NM_002471.4(MYH6):c.3195G>C (p.Gln1065His)	MYH6 (Q1065H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 263779	NM_002471.4(MYH6):c.3177C>T (p.Gly1059=)	MYH6	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 44476	NM_002471.4(MYH6):c.3118C>T (p.Leu1040=)	MYH6	Single nucleotide variant (synonymous variant)	not specified +6 more	GLikely benign
Select item 14151	NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)	MYH6 (A1004S)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 44473	NM_002471.4(MYH6):c.2928+5G>A	MYH6	Single nucleotide variant (intron variant)	Cardiomyopathy +6 more	GBenign/Likely benign
Select item 519156	NM_002471.4(MYH6):c.2841C>T (p.Asp947=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +2 more	GLikely benign
Select item 44471	NM_002471.4(MYH6):c.2806G>T (p.Ala936Ser)	MYH6 (A936S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +3 more	GBenign/Likely benign
Select item 1175153	NM_002471.4(MYH6):c.2702A>G (p.Asn901Ser)	MYH6 (N901S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 414332	NM_002471.4(MYH6):c.2685+10C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1 +5 more	GLikely benign
Select item 178070	NM_002471.4(MYH6):c.2430-14C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +1 more	GBenign/Likely benign
Select item 1174795	NM_002471.4(MYH6):c.2292+1G>T	MYH6	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype	GUncertain significance
Select item 389970	NM_002471.4(MYH6):c.2168+17C>A	MYH6	Single nucleotide variant (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 1285205	NM_002471.4(MYH6):c.2093A>G (p.Asn698Ser)	MYH6 (N698S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 164242	NM_002471.4(MYH6):c.2071G>A (p.Val691Ile)	MYH6 (V691I)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1328031	NM_002471.4(MYH6):c.1887T>C (p.Asp629=)	MYH6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 155811	NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala)	MYH6 (D588A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +4 more	GConflicting classifications of pathogenicity
Select item 662002	NM_002471.4(MYH6):c.1545C>T (p.Gly515=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 44453	NM_002471.4(MYH6):c.1449C>T (p.Asn483=)	MYH6	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 178073	NM_002471.4(MYH6):c.1410C>T (p.Asp470=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +3 more	GLikely benign
Select item 44450	NM_002471.4(MYH6):c.1275C>T (p.Ile425=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 44449	NM_002471.4(MYH6):c.1252G>A (p.Val418Met)	MYH6 (V418M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 178074	NM_002471.4(MYH6):c.1141+8G>T	MYH6	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 227584	NM_002471.4(MYH6):c.1131C>T (p.Asp377=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 44448	NM_002471.4(MYH6):c.1131C>G (p.Asp377Glu)	MYH6 (D377E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 178076	NM_002471.4(MYH6):c.1122G>A (p.Ala374=)	MYH6	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1285166	NM_002471.4(MYH6):c.1100A>T (p.Gln367Leu)	MYH6 (Q367L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +4 more	GUncertain significance
Select item 178077	NM_002471.4(MYH6):c.1083G>T (p.Gly361=)	MYH6	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 312879	NM_002471.4(MYH6):c.1007C>G (p.Ala336Gly)	MYH6 (A336G)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 1285083	NM_002471.4(MYH6):c.1003-29C>A	MYH6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 36634	NM_002471.4(MYH6):c.999C>T (p.Thr333=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +3 more	GBenign
Select item 509757	NM_002471.4(MYH6):c.735+16C>T	MYH6	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 44542	NM_002471.4(MYH6):c.643-5C>T	MYH6	Single nucleotide variant (intron variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 44541	NM_002471.4(MYH6):c.622G>A (p.Asp208Asn)	LOC114827851, MYH6 (D208N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 44481	NM_002471.4(MYH6):c.330G>A (p.Ala110=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 44455	NM_002471.4(MYH6):c.166G>A (p.Gly56Arg)	LOC114827851, MYH6 (G56R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 164257	NM_002471.4(MYH6):c.161G>A (p.Arg54Gln)	LOC114827851, MYH6 (R54Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +8 more	GUncertain significance
Select item 312887	NM_000257.4(MYH7):c.*113G>A	MYH6, MYH7	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy +8 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: 89