Unique variants in the MYH8 gene

Information The variants shown are described using the NM_002472.2 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 1 - c.143_144del r.(?) p.(Ser48LeufsTer19) - VUS g.10323401_10323402del g.10420084_10420085del MYH8(NM_002472.2):c.143_144delCC (p.S48Lfs*19) - MYH8_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.273G>C r.(?) p.(Glu91Asp) - VUS g.10322285C>G g.10418968C>G MYH8(NM_002472.2):c.273G>C (p.E91D) - MYH8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.540C>T r.(?) p.(Thr180=) - likely benign g.10318897G>A g.10415580G>A MYH8(NM_002472.2):c.540C>T (p.(=)) - MYH8_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.675C>T r.(?) p.(Ser225=) - benign g.10318675G>A g.10415358G>A MYH8(NM_002472.2):c.675C>T (p.S225=) - MYH8_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.714T>C r.(?) p.(Thr238=) - benign g.10318636A>G g.10415319A>G MYH8(NM_002472.2):c.714T>C (p.T238=), MYH8(NM_002472.3):c.714T>C (p.T238=) - MYH8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-/. 1 - c.891G>A r.(?) p.(Lys297=) - benign g.10317716C>T - MYH8(NM_002472.2):c.891G>A (p.K297=) - MYH8_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1148-13T>G r.(=) p.(=) - likely benign g.10316058A>C g.10412741A>C MYH8(NM_002472.2):c.1148-13T>G - MYH8_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1209C>A r.(?) p.(Cys403Ter) - VUS g.10315984G>T g.10412667G>T MYH8(NM_002472.2):c.1209C>A (p.C403*) - MYH8_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1632T>C r.(?) p.(Pro544=) - likely benign g.10312861A>G - MYH8(NM_002472.2):c.1632T>C (p.P544=) - MYH8_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1701G>A r.(?) p.(Gln567=) - benign g.10312792C>T g.10409475C>T MYH8(NM_002472.2):c.1701G>A (p.Q567=) - MYH8_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1907C>T r.(?) p.(Ala636Val) - benign g.10312472G>A g.10409155G>A MYH8(NM_002472.2):c.1907C>T (p.A636V) - MYH8_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2016C>T r.(?) p.(Phe672=) - benign g.10310246G>A g.10406929G>A MYH8(NM_002472.2):c.2016C>T (p.F672=) - MYH8_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 - c.2021G>A r.(?) p.(Arg674Gln) - pathogenic, pathogenic (dominant) g.10310241C>T g.10406924C>T - - MYH8_000015 VKGL data sharing initiative Nederland PubMed: Velmans 2012 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
-/. 1 - c.2171+17G>A r.(=) p.(=) - benign g.10309990C>T g.10406673C>T MYH8(NM_002472.2):c.2171+17G>A - MYH8_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.3025A>G r.(?) p.(Thr1009Ala) - VUS g.10304675T>C g.10401358T>C MYH8(NM_002472.2):c.3025A>G (p.T1009A) - MYH8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.3117G>A r.(?) p.(Gly1039=) - benign g.10304500C>T g.10401183C>T MYH8(NM_002472.2):c.3117G>A (p.G1039=) - MYH8_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., ?/. 2 - c.3254+1G>A r.spl? p.? - likely benign, VUS g.10304362C>T g.10401045C>T MYH8(NM_002472.2):c.3254+1G>A (, p.?) - MYH8_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/. 2 - c.3270C>T r.(?) p.(Ile1090=) - benign g.10304261G>A g.10400944G>A MYH8(NM_002472.2):c.3270C>T (p.I1090=), MYH8(NM_002472.3):c.3270C>T (p.I1090=) - MYH8_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-?/. 1 - c.3388G>T r.(?) p.(Ala1130Ser) - likely benign g.10304054C>A - MYH8(NM_002472.3):c.3388G>T (p.A1130S) - MYH8_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.3416G>A r.(?) p.(Arg1139His) ACMG VUS g.10304026C>T g.10400709C>T - - MYH8_000016 - - - - Germline ? - - - - Andreas Laner
?/. 1 - c.3514G>T r.(?) p.(Ala1172Ser) - VUS g.10303928C>A g.10400611C>A MYH8(NM_002472.2):c.3514G>T (p.A1172S) - MYH8_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3533G>T r.(?) p.(Arg1178Leu) - VUS g.10303909C>A g.10400592C>A MYH8(NM_002472.2):c.3533G>T (p.(Arg1178Leu)) - MYH8_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 3 - c.3686T>C r.(?) p.(Met1229Thr) - likely benign g.10303756A>G g.10400439A>G MYH8(NM_002472.2):c.3686T>C (p.M1229T) - MYH8_000022 1 homozygous; Clinindb (India), 26 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs35962914 CLASSIFICATION record, Germline - 1/2794 individuals, 26/2794 individuals - - - VKGL-NL_AMC, Mohammed Faruq
-/. 1 - c.3757C>T r.(?) p.(Arg1253Cys) - benign g.10302965G>A g.10399648G>A - - MYH8_000035 18 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34953692 Germline - 18/2794 individuals - - - Mohammed Faruq
?/. 2 - c.4003G>A r.(?) p.(Ala1335Thr) - VUS g.10301936C>T g.10398619C>T MYH8(NM_002472.2):c.4003G>A (p.A1335T) - MYH8_000034 6 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs142232788 CLASSIFICATION record, Germline - 6/2795 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
-?/. 1 - c.4042G>A r.(?) p.(Glu1348Lys) - likely benign g.10301897C>T g.10398580C>T MYH8(NM_002472.3):c.4042G>A (p.E1348K) - MYH8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.4288G>T r.(?) p.(Asp1430Tyr) - likely pathogenic g.10300194C>A g.10396877C>A FBN2(NM_001999.3):c.4217G>A(p.C1406Y); MYH8( NM_002472.2):c.4288G>T(p.D1430Y) - MYH8_000037 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 164 - - - LOVD
?/. 1 - c.4474G>A r.(?) p.(Glu1492Lys) - VUS g.10299924C>T g.10396607C>T MYH8(NM_002472.2):c.4474G>A (p.(Glu1492Lys)) - MYH8_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.4499C>T r.(?) p.(Thr1500Met) - benign g.10299899G>A g.10396582G>A MYH8(NM_002472.2):c.4499C>T (p.T1500M) - MYH8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.4666C>T r.(?) p.(His1556Tyr) - VUS g.10298746G>A g.10395429G>A MYH8(NM_002472.2):c.4666C>T (p.H1556Y) - MYH8_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.4738G>A r.(?) p.(Ala1580Thr) - VUS g.10298674C>T g.10395357C>T MYH8(NM_002472.2):c.4738G>A (p.A1580T) - MYH8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.4924_4925del r.(?) p.(Ser1642PhefsTer20) - VUS g.10298491_10298492del g.10395174_10395175del MYH8(NM_002472.2):c.4924_4925delAG (p.S1642Ffs*20) - MYH8_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.5074T>C r.(?) p.(Trp1692Arg) - benign g.10297658A>G g.10394341A>G MYH8(NM_002472.2):c.5074T>C (p.W1692R), MYH8(NM_002472.3):c.5074T>C (p.W1692R) - MYH8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - c.5143C>T r.(?) p.(Arg1715Cys) - VUS g.10297589G>A - - - MYH8_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.5208C>T r.(?) p.(Asp1736=) - benign g.10296486G>A g.10393169G>A MYH8(NM_002472.2):c.5208C>T (p.D1736=), MYH8(NM_002472.3):c.5208C>T (p.D1736=) - MYH8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-?/. 1 - c.5350C>G r.(?) p.(Arg1784Gly) - likely benign g.10296261G>C g.10392944G>C MYH8(NM_002472.2):c.5350C>G (p.(Arg1784Gly)) - MYH8_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.5435A>G r.(?) p.(Lys1812Arg) - VUS g.10296176T>C g.10392859T>C - - MYH8_000033 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201598997 Germline - 1/2795 individuals - - - Mohammed Faruq
-/., -?/. 3 - c.5513A>C r.(?) p.(Glu1838Ala) - benign, likely benign g.10295914T>G g.10392597T>G MYH8(NM_002472.2):c.5513A>C (p.E1838A), MYH8(NM_002472.3):c.5513A>C (p.E1838A) - MYH8_000017 6 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs111567318 CLASSIFICATION record, Germline - 6/2795 individuals - - - VKGL-NL_Groningen, VKGL-NL_AMC, Mohammed Faruq
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