Unique variants in the NDE1 gene

Information The variants shown are described using the NM_017668.2 transcript reference sequence.

298 entries on 3 pages. Showing entries 1 - 100.
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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.-938814_*743043dup r.? p.? - pathogenic g.14805381_16561151dup g.14711524_16467294dup - - MYH11_000002 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
./. 1 - c.-249491_*570352del r.? p.? - pathogenic g.15494704_16388460del g.15400847_16294603del - - MYH11_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.-11119G>C r.(?) p.(=) - likely benign g.15733076G>C g.15639219G>C KIAA0430(NM_001184998.1):c.15C>G (p.(Asn5Lys)) - MYH11_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.66G>A r.(?) p.(Ala22=) - likely benign g.15758701G>A g.15664844G>A NDE1(NM_001143979.1):c.66G>A (p.A22=) - NDE1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.83+15A>C r.(=) p.(=) - likely benign g.15758733A>C g.15664876A>C NDE1(NM_001143979.2):c.83+15A>C - NDE1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.198C>T r.(?) p.(Ser66=) - likely benign g.15761257C>T g.15667400C>T NDE1(NM_001143979.1):c.198C>T (p.S66=) - NDE1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.302C>T r.(?) p.(Ala101Val) - VUS g.15771722C>T - NDE1(NM_001143979.1):c.302C>T (p.A101V) - MYH11_000286 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.309C>G r.(?) p.(Thr103=) - likely benign g.15771729C>G g.15677872C>G NDE1(NM_001143979.1):c.309C>G (p.T103=) - NDE1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.438C>T r.(?) p.(Ile146=) - likely benign g.15781283C>T g.15687426C>T NDE1(NM_001143979.1):c.438C>T (p.I146=) - MYH11_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.486C>T r.(?) p.(Leu162=) - likely benign g.15781331C>T g.15687474C>T NDE1(NM_001143979.1):c.486C>T (p.L162=) - NDE1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.572C>T r.(?) p.(Thr191Ile) - benign, likely benign g.15785049C>T g.15691192C>T NDE1(NM_001143979.1):c.572C>T (p.T191I, p.(Thr191Ile)) - NDE1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.607G>T r.(?) p.(Asp203Tyr) - VUS g.15785084G>T g.15691227G>T NDE1(NM_001143979.1):c.607G>T (p.(Asp203Tyr)) - NDE1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.647C>G r.(?) p.(Pro216Arg) - VUS g.15785124C>G g.15691267C>G NDE1(NM_001143979.1):c.647C>G (p.(Pro216Arg)) - NDE1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 2 6 c.684_685del r.(?) p.Pro229Trpfs*85 - likely pathogenic g.15785161_15785162del g.15691304_15691305del - - NDE1_000001 - - - - Germline - - - - - Johan den Dunnen
+/. 1 - c.704-1G>A r.spl? p.? - pathogenic g.15788021G>A g.15694164G>A - - NDE1_000016 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs398123577 Germline - 2/2795 individuals - - - Mohammed Faruq
-?/. 1 - c.721G>A r.(?) p.(Gly241Arg) - likely benign g.15788039G>A g.15694182G>A NDE1(NM_001143979.1):c.721G>A (p.G241R) - NDE1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.723G>T r.(?) p.(Gly241=) - VUS g.15788041G>T g.15694184G>T NDE1(NM_001143979.1):c.723G>T (p.G241=) - NDE1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 7 c.733dup r.(?) p.Leu245Profs*70 - likely pathogenic g.15788051dup g.15694194dup - - NDE1_000002 - - - - Germline - - - - - Johan den Dunnen
?/. 1 - c.764A>G r.(?) p.(Asn255Ser) - VUS g.15788082A>G g.15694225A>G NDE1(NM_001143979.1):c.764A>G (p.N255S) - NDE1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.837C>T r.(=), r.(?) p.(=), p.(Tyr279=) - benign, likely benign g.15790607C>T g.15696750C>T NDE1(NM_001143979.1):c.837C>T (p.Y279=) - NDE1_000014 101 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs17283846 CLASSIFICATION record, Germline - 101/2794 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
?/. 1 - c.947+7166C>A r.(=) p.(=) - VUS g.15797883C>A g.15704026C>A MYH11(NM_001040114.1):c.5905G>T (p.D1969Y) - MYH11_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.947+7250T>A r.(=) p.(=) - likely benign g.15797967T>A g.15704110T>A MYH11(NM_001040113.1):c.*22A>T (p.(=)), MYH11(NM_001040114.1):c.5821A>T (p.T1941S) - MYH11_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 2 - c.947+7254G>A r.(=) p.(=) - benign g.15797971G>A g.15704114G>A MYH11(NM_001040114.1):c.5817C>T (p.N1939=) - MYH11_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 1 - c.947+11935C>T r.(=) p.(=) - VUS g.15802652C>T g.15708795C>T MYH11(NM_001040113.1):c.*8+8G>A - MYH11_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.947+11970G>A r.(=) p.(=) - likely benign g.15802687G>A g.15708830G>A MYH11(NM_001040113.1):c.5819C>T (p.P1940L) - MYH11_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.947+11970G>C r.(=) p.(=) - likely benign g.15802687G>C g.15708830G>C MYH11(NM_001040113.1):c.5819C>G (p.P1940R), MYH11(NM_001040113.2):c.5819C>G (p.P1940R) - MYH11_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
-/., -?/. 3 - c.947+11970G>T r.(=) p.(=) - benign, likely benign g.15802687G>T g.15708830G>T MYH11(NM_001040113.1):c.5819C>A (p.P1940Q), MYH11(NM_001040113.2):c.5819C>A (p.P1940Q) - MYH11_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
?/. 1 - c.947+11976G>C r.(=) p.(=) - VUS g.15802693G>C g.15708836G>C MYH11(NM_001040113.2):c.5813C>G (p.P1938R) - MYH11_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.947+11977del r.(=) p.(=) - VUS g.15802694del g.15708837del MYH11(NM_001040113.1):c.5819delC (p.P1940Hfs*91) - MYH11_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.947+11978C>G r.(=) p.(=) - likely benign g.15802695C>G g.15708838C>G MYH11(NM_001040113.1):c.5811G>C (p.G1937=), MYH11(NM_001040113.2):c.5811G>C (p.G1937=) - MYH11_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.947+11994_947+11997del r.(=) p.(=) - likely benign g.15802711_15802714del g.15708854_15708857del MYH11(NM_001040113.1):c.5808-11_5808-8delCTCT - MYH11_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.948-9293G>A r.(=) p.(=) - likely benign g.15808755G>A g.15714898G>A MYH11(NM_001040113.2):c.5807+11C>T - MYH11_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.948-9272T>C r.(=) p.(=) - VUS g.15808776T>C g.15714919T>C MYH11(NM_001040113.2):c.5797A>G (p.S1933G) - MYH11_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.948-9263C>T r.(=) p.(=) - likely benign g.15808785C>T g.15714928C>T - - MYH11_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.948-9262G>A r.(=) p.(=) - VUS g.15808786G>A g.15714929G>A MYH11(NM_001040113.1):c.5787C>T (p.N1929=) - MYH11_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.948-9253G>A r.(=) p.(=) - likely benign g.15808795G>A g.15714938G>A MYH11(NM_001040113.2):c.5778C>T (p.R1926=) - MYH11_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.948-9246A>G r.(=) p.(=) - VUS g.15808802A>G g.15714945A>G MYH11(NM_001040113.1):c.5771T>C (p.M1924T) - MYH11_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.948-9239C>T r.(=) p.(=) - VUS g.15808809C>T g.15714952C>T MYH11(NM_001040113.2):c.5764G>A (p.E1922K) - MYH11_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.948-9188C>T r.(=) p.(=) - VUS g.15808860C>T - MYH11(NM_002474.3):c.5692G>A (p.A1898T) - MYH11_000287 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 3 - c.948-9187G>A r.(=) p.(=) - likely benign g.15808861G>A g.15715004G>A MYH11(NM_001040113.1):c.5712C>T (p.N1904=), MYH11(NM_001040113.2):c.5712C>T (p.N1904=) - MYH11_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
-/., -?/. 4 - c.948-9172C>G r.(=) p.(=) - benign, likely benign g.15808876C>G g.15715019C>G 1 more item - MYH11_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 4 - c.948-9103C>T r.(=) p.(=) - likely benign g.15808945C>T g.15715088C>T MYH11(NM_001040113.1):c.5635-7G>A, MYH11(NM_001040113.2):c.5635-7G>A - MYH11_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 2 - c.948-9102G>A r.(=) p.(=) - likely benign g.15808946G>A g.15715089G>A MYH11(NM_001040113.1):c.5635-8C>T, MYH11(NM_001040114.1):c.5635-8C>T - MYH11_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.948-9010C>T r.(=) p.(=) - VUS g.15809038C>T g.15715181C>T MYH11(NM_001040113.1):c.5617G>A (p.E1873K) - MYH11_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.948-9009G>A r.(=) p.(=) - likely benign g.15809039G>A - MYH11(NM_001040113.2):c.5616C>T (p.A1872=) - MYH11_000277 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.948-8999C>T r.(=) p.(=) - VUS g.15809049C>T - MYH11(NM_001040113.1):c.5606G>A (p.R1869H) - MYH11_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.948-8988C>T r.(=) p.(=) - VUS g.15809060C>T - MYH11(NM_001040113.1):c.5595G>A (p.V1865=) - MYH11_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.948-8980G>A r.(=) p.(=) - likely benign g.15809068G>A g.15715211G>A MYH11(NM_001040113.1):c.5587C>T (p.L1863=), MYH11(NM_001040113.2):c.5587C>T (p.L1863=) - MYH11_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 2 - c.948-8943C>T r.(=) p.(=) - likely benign g.15809105C>T - MYH11(NM_001040113.1):c.5550G>A (p.S1850=), MYH11(NM_001040113.2):c.5550G>A (p.S1850=) - MYH11_000264 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.948-8942G>A r.(=) p.(=) - likely benign g.15809106G>A - MYH11(NM_001040113.1):c.5549C>T (p.S1850L) - MYH11_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.948-8931C>T r.(=) p.(=) - benign g.15809117C>T g.15715260C>T MYH11(NM_001040113.2):c.5538G>A (p.A1846=) - MYH11_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.948-7059C>G r.(=) p.(=) - benign g.15810989C>G g.15717132C>G MYH11(NM_001040113.2):c.5525+8G>C - MYH11_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 3 - c.948-7058C>A r.(=) p.(=) - likely benign g.15810990C>A g.15717133C>A MYH11(NM_001040113.1):c.5525+7G>T, MYH11(NM_001040113.2):c.5525+7G>T - MYH11_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 5 - c.948-7046C>G r.(=) p.(=) - likely benign g.15811002C>G g.15717145C>G 1 more item - MYH11_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-/. 4 - c.948-7025C>T r.(=) p.(=) - benign g.15811023C>T g.15717166C>T 1 more item - MYH11_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/., ?/. 2 - c.948-6988G>A r.(=) p.(=) - likely benign, VUS g.15811060G>A g.15717203G>A MYH11(NM_001040113.1):c.5462C>T (p.S1821F) - MYH11_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 4 - c.948-6986C>T r.(=) p.(=) - benign g.15811062C>T g.15717205C>T 1 more item - MYH11_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - c.948-6951G>A r.(=) p.(=) - likely benign g.15811097G>A g.15717240G>A MYH11(NM_001040113.1):c.5425C>T (p.(His1809Tyr)) - MYH11_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.948-6946T>G r.(=) p.(=) - VUS g.15811102T>G g.15717245T>G MYH11(NM_001040114.1):c.5420A>C (p.(Lys1807Thr)) - MYH11_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 2 - c.948-6917G>A r.(=) p.(=) - benign, likely benign g.15811131G>A g.15717274G>A MYH11(NM_001040113.2):c.5391C>T (p.L1797=) - MYH11_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 2 - c.948-6917G>C r.(=) p.(=) - likely benign g.15811131G>C g.15717274G>C MYH11(NM_001040113.1):c.5391C>G (p.L1797=), MYH11(NM_001040113.2):c.5391C>G (p.L1797=) - MYH11_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.948-6900T>A r.(=) p.(=) - VUS g.15811148T>A - MYH11(NM_001040113.1):c.5374A>T (p.S1792C) - MYH11_000278 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.948-6883G>A r.(=) p.(=) - likely benign g.15811165G>A g.15717308G>A MYH11(NM_001040113.2):c.5357C>T (p.T1786M) - MYH11_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.948-6883G>T r.(=) p.(=) - likely benign g.15811165G>T g.15717308G>T - - MYH11_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.948-6875C>T r.(=) p.(=) - likely benign g.15811173C>T g.15717316C>T - - MYH11_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 3 - c.948-6839G>A r.(=) p.(=) - likely benign g.15811209G>A g.15717352G>A MYH11(NM_001040113.1):c.5317-4C>T (, p.?), MYH11(NM_001040113.2):c.5317-4C>T - MYH11_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.948-6833A>G r.(=) p.(=) - likely benign g.15811215A>G g.15717358A>G MYH11(NM_001040113.1):c.5317-10T>C - MYH11_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.948-6220C>T r.(=) p.(=) - likely benign g.15811828C>T - MYH11(NM_001040113.2):c.5316+344G>A - MYH11_000265 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.948-5886C>T r.(=) p.(=) - likely benign g.15812162C>T - MYH11(NM_001040113.1):c.5316+10G>A - MYH11_000289 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.948-5858G>A r.(=) p.(=) - likely benign g.15812190G>A g.15718333G>A MYH11(NM_001040113.1):c.5298C>T (p.V1766=) - MYH11_000240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.948-5856C>T r.(=) p.(=) - likely benign g.15812192C>T - MYH11(NM_001040113.1):c.5296G>A (p.V1766I) - MYH11_000290 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.948-5854C>T r.(=) p.(=) - VUS g.15812194C>T g.15718337C>T MYH11(NM_001040113.1):c.5294G>A (p.R1765Q) - MYH11_000155 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs142546324 CLASSIFICATION record, Germline - 1/2795 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
+?/. 1 - c.948-5853G>A r.(=) p.(=) - likely pathogenic g.15812195G>A g.15718338G>A MYH11(NM_001040113.2):c.5293C>T (p.R1765W) - MYH11_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.948-5852G>T r.(=) p.(=) - likely benign g.15812196G>T g.15718339G>T MYH11(NM_001040113.1):c.5292C>A (p.D1764E) - MYH11_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.948-5827T>G r.(=) p.(=) - VUS g.15812221T>G g.15718364T>G MYH11(NM_001040113.2):c.5267A>C (p.Q1756P) - MYH11_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.948-5814G>T r.(=) p.(=) - VUS g.15812234G>T g.15718377G>T MYH11(NM_001040113.2):c.5254C>A (p.L1752M) - MYH11_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.948-5811_948-5800del r.(=) p.(=) - VUS g.15812237_15812248del - MYH11(NM_001040113.1):c.5255_5266delTGGAGGAGGAGC (p.L1752_E1755del) - MYH11_000291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.948-5807C>G r.(=) p.(=) - likely benign g.15812241C>G g.15718384C>G MYH11(NM_001040113.1):c.5247G>C (p.E1749D), MYH11(NM_001040113.2):c.5247G>C (p.E1749D) - MYH11_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 2 - c.948-5757C>T r.(=) p.(=) - likely benign g.15812291C>T g.15718434C>T MYH11(NM_001040113.1):c.5197G>A (p.(Ala1733Thr)), MYH11(NM_001040113.2):c.5197G>A (p.A1733T) - MYH11_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
-/. 1 - c.948-5748G>A r.(=) p.(=) - benign g.15812300G>A g.15718443G>A MYH11(NM_001040113.2):c.5193-5C>T - MYH11_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 2 - c.948-5739G>A r.(=) p.(=) - benign g.15812309G>A g.15718452G>A MYH11(NM_001040113.2):c.5193-14C>T - MYH11_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 1 - c.948-4960G>A r.(=) p.(=) - likely benign g.15813088G>A - MYH11(NM_001040113.1):c.5181C>T (p.S1727=) - MYH11_000266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.948-4940C>T r.(=) p.(=) - VUS g.15813108C>T g.15719251C>T MYH11(NM_001040113.2):c.5161G>A (p.A1721T) - MYH11_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.948-4895C>T r.(=) p.(=) - VUS g.15813153C>T g.15719296C>T MYH11(NM_001040113.1):c.5116G>A (p.A1706T) - MYH11_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.948-4464C>G r.(=) p.(=) - likely benign g.15813584C>G - MYH11(NM_001040113.2):c.4975-14G>C - MYH11_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.948-4007C>T r.(=) p.(=) - likely benign g.15814041C>T g.15720184C>T MYH11(NM_001040113.1):c.4941G>A (p.R1647=) - MYH11_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 3 - c.948-3948T>G r.(=) p.(=) - VUS g.15814100T>G g.15720243T>G MYH11(NM_001040113.1):c.4882A>C (p.K1628Q), MYH11(NM_001040113.2):c.4882A>C (p.K1628Q) - MYH11_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
?/. 1 - c.948-3936C>A r.(=) p.(=) - VUS g.15814112C>A g.15720255C>A MYH11(NM_001040113.2):c.4870G>T (p.A1624S) - MYH11_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.948-3935A>G r.(=) p.(=) - likely benign g.15814113A>G g.15720256A>G MYH11(NM_001040113.2):c.4869T>C (p.A1623=) - MYH11_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.948-3922C>T r.(=) p.(=) - VUS g.15814126C>T g.15720269C>T MYH11(NM_001040113.1):c.4856G>A (p.R1619H) - MYH11_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.948-3909C>T r.(=) p.(=) - VUS g.15814139C>T g.15720282C>T MYH11(NM_001040113.1):c.4843G>A (p.E1615K) - MYH11_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.948-3896C>T r.(=) p.(=) - likely benign g.15814152C>T g.15720295C>T - - MYH11_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.948-3884G>A r.(=) p.(=) - likely benign g.15814164G>A - MYH11(NM_001040113.2):c.4818C>T (p.H1606=) - MYH11_000279 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.948-3356G>A r.(=) p.(=) - benign g.15814692G>A g.15720835G>A MYH11(NM_001040113.2):c.4812+4C>T - MYH11_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.948-3335T>G r.(=) p.(=) - likely benign g.15814713T>G g.15720856T>G MYH11(NM_001040113.2):c.4795A>C (p.R1599=) - MYH11_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 3 - c.948-3331C>T r.(=) p.(=) - benign g.15814717C>T g.15720860C>T MYH11(NM_001040113.1):c.4791G>A (p.K1597=), MYH11(NM_001040113.2):c.4791G>A (p.K1597=) - MYH11_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 2 - c.948-3296C>T r.(=) p.(=) - VUS g.15814752C>T g.15720895C>T MYH11(NM_001040113.2):c.4756G>A (p.D1586N) - MYH11_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 2 - c.948-3241G>A r.(=) p.(=) - likely benign g.15814807G>A g.15720950G>A MYH11(NM_001040113.1):c.4701C>T (p.D1567=), MYH11(NM_001040113.2):c.4701C>T (p.D1567=) - MYH11_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/., ?/. 4 - c.948-3234G>A r.(=) p.(=) - likely benign, VUS g.15814814G>A g.15720957G>A 1 more item - MYH11_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 1 - c.948-3224G>A r.(=) p.(=) - likely benign g.15814824G>A g.15720967G>A MYH11(NM_001040113.2):c.4684C>T (p.L1562=) - MYH11_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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