All variants in the NDE1 gene

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

460 entries on 5 pages. Showing entries 1 - 100.
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Effect     

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     
./. - 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 - - - 0 - Johan den Dunnen
./. - c.-249491_*570352del r.? p.? - pathogenic g.15494704_16388460del g.15400847_16294603del - - MYH11_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
-?/. - 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
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - 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 - - - 0 - VKGL-NL_Groningen
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - 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
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - 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
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.572C>T r.(?) p.(Thr191Ile) - 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 - - - 0 - VKGL-NL_Leiden
-/. - c.572C>T r.(?) p.(Thr191Ile) - 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_Rotterdam
?/. - 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 - - - 0 - VKGL-NL_Leiden
?/. - 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 - - - 0 - VKGL-NL_Leiden
+?/. 6 c.684_685del r.(?) p.Pro229Trpfs*85 - likely pathogenic g.15785161_15785162del g.15691304_15691305del - - NDE1_000001 - - - - Germline - - - 0 - Johan den Dunnen
+?/. 6 c.684_685del r.(?) p.Pro229Trpfs*85 - likely pathogenic g.15785161_15785162del g.15691304_15691305del - - NDE1_000001 - - - - Germline - - - 0 - Johan den Dunnen
+/. - 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 - 0 - Mohammed Faruq
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
+?/. 7 c.733dup r.(?) p.Leu245Profs*70 - likely pathogenic g.15788051dup g.15694194dup - - NDE1_000002 - - - - Germline - - - 0 - Johan den Dunnen
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-/. - c.837C>T r.(?) p.(Tyr279=) - benign g.15790607C>T g.15696750C>T NDE1(NM_001143979.1):c.837C>T (p.Y279=) - NDE1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.837C>T r.(=) p.(=) - likely benign g.15790607C>T g.15696750C>T - - NDE1_000014 101 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17283846 Germline - 101/2794 individuals - 0 - Mohammed Faruq
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - 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 - - - 0 - VKGL-NL_Utrecht
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - 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
-/. - 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_Nijmegen
-/. - 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
?/. - 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
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - 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 - - - 0 - VKGL-NL_VUmc
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.947+11970G>C r.(=) p.(=) - likely benign g.15802687G>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_Utrecht
-?/. - c.947+11970G>T r.(=) p.(=) - 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 - - - 0 - VKGL-NL_VUmc
-?/. - c.947+11970G>T r.(=) p.(=) - 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
-/. - c.947+11970G>T r.(=) p.(=) - 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_Utrecht
?/. - 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
?/. - 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
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - 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_VUmc
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - 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 - - - 0 - VKGL-NL_VUmc
?/. - 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
-?/. - 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
?/. - 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
-?/. - 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
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - 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
?/. - 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
-?/. - 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_VUmc
-?/. - 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
-?/. - c.948-9187G>A r.(=) p.(=) - likely benign g.15808861G>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_Utrecht
-/. - c.948-9172C>G r.(=) p.(=) - benign g.15808876C>G g.15715019C>G MYH11(NM_001040113.1):c.5697G>C (p.E1899D), MYH11(NM_001040114.1):c.5697G>C (p.E1899D), NDE1(NM_001143979.2):c.948-9172C>G - MYH11_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.948-9172C>G r.(=) p.(=) - likely benign g.15808876C>G g.15715019C>G MYH11(NM_001040113.1):c.5697G>C (p.E1899D), MYH11(NM_001040114.1):c.5697G>C (p.E1899D), NDE1(NM_001143979.2):c.948-9172C>G - MYH11_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.948-9172C>G r.(=) p.(=) - likely benign g.15808876C>G g.15715019C>G MYH11(NM_001040113.1):c.5697G>C (p.E1899D), MYH11(NM_001040114.1):c.5697G>C (p.E1899D), NDE1(NM_001143979.2):c.948-9172C>G - MYH11_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.948-9172C>G r.(=) p.(=) - benign g.15808876C>G g.15715019C>G MYH11(NM_001040113.1):c.5697G>C (p.E1899D), MYH11(NM_001040114.1):c.5697G>C (p.E1899D), NDE1(NM_001143979.2):c.948-9172C>G - MYH11_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - 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 - - - 0 - VKGL-NL_VUmc
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - 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_Nijmegen
-?/. - 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_Utrecht
-?/. - 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 - - - 0 - VKGL-NL_Utrecht
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - 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
-?/. - 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
?/. - 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
?/. - 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
-?/. - 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 - - - 0 - VKGL-NL_VUmc
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - 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_Utrecht
-?/. - 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_VUmc
-?/. - 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
-?/. - 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
-/. - 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 - - - 0 - VKGL-NL_VUmc
-/. - 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
-?/. - 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 - - - 0 - VKGL-NL_VUmc
-?/. - 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 - - - 0 - VKGL-NL_Utrecht
-?/. - 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
-?/. - c.948-7046C>G r.(=) p.(=) - likely benign g.15811002C>G g.15717145C>G MYH11(NM_001040113.1):c.5520G>C (p.E1840D, p.(Glu1840Asp)), MYH11(NM_001040113.2):c.5520G>C (p.E1840D) - MYH11_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.948-7046C>G r.(=) p.(=) - likely benign g.15811002C>G g.15717145C>G MYH11(NM_001040113.1):c.5520G>C (p.E1840D, p.(Glu1840Asp)), MYH11(NM_001040113.2):c.5520G>C (p.E1840D) - MYH11_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.948-7046C>G r.(=) p.(=) - likely benign g.15811002C>G g.15717145C>G MYH11(NM_001040113.1):c.5520G>C (p.E1840D, p.(Glu1840Asp)), MYH11(NM_001040113.2):c.5520G>C (p.E1840D) - MYH11_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.948-7046C>G r.(=) p.(=) - likely benign g.15811002C>G g.15717145C>G MYH11(NM_001040113.1):c.5520G>C (p.E1840D, p.(Glu1840Asp)), MYH11(NM_001040113.2):c.5520G>C (p.E1840D) - MYH11_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.948-7046C>G r.(=) p.(=) - likely benign g.15811002C>G g.15717145C>G MYH11(NM_001040113.1):c.5520G>C (p.E1840D, p.(Glu1840Asp)), MYH11(NM_001040113.2):c.5520G>C (p.E1840D) - MYH11_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.948-7025C>T r.(=) p.(=) - benign g.15811023C>T g.15717166C>T MYH11(NM_001040113.1):c.5499G>A (p.L1833=), MYH11(NM_001040113.2):c.5499G>A (p.L1833=), NDE1(NM_001143979.2):c.948-7025C>T - MYH11_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.948-7025C>T r.(=) p.(=) - benign g.15811023C>T g.15717166C>T MYH11(NM_001040113.1):c.5499G>A (p.L1833=), MYH11(NM_001040113.2):c.5499G>A (p.L1833=), NDE1(NM_001143979.2):c.948-7025C>T - MYH11_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.948-7025C>T r.(=) p.(=) - benign g.15811023C>T g.15717166C>T MYH11(NM_001040113.1):c.5499G>A (p.L1833=), MYH11(NM_001040113.2):c.5499G>A (p.L1833=), NDE1(NM_001143979.2):c.948-7025C>T - MYH11_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.948-7025C>T r.(=) p.(=) - benign g.15811023C>T g.15717166C>T MYH11(NM_001040113.1):c.5499G>A (p.L1833=), MYH11(NM_001040113.2):c.5499G>A (p.L1833=), NDE1(NM_001143979.2):c.948-7025C>T - MYH11_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.948-6988G>A r.(=) p.(=) - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.948-6988G>A r.(=) p.(=) - likely benign 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_Nijmegen
-/. - c.948-6986C>T r.(=) p.(=) - benign g.15811062C>T g.15717205C>T MYH11(NM_001040113.1):c.5460G>A (p.K1820=), MYH11(NM_001040113.2):c.5460G>A (p.K1820=), NDE1(NM_001143979.2):c.948-6986C>T - MYH11_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.948-6986C>T r.(=) p.(=) - benign g.15811062C>T g.15717205C>T MYH11(NM_001040113.1):c.5460G>A (p.K1820=), MYH11(NM_001040113.2):c.5460G>A (p.K1820=), NDE1(NM_001143979.2):c.948-6986C>T - MYH11_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.948-6986C>T r.(=) p.(=) - benign g.15811062C>T g.15717205C>T MYH11(NM_001040113.1):c.5460G>A (p.K1820=), MYH11(NM_001040113.2):c.5460G>A (p.K1820=), NDE1(NM_001143979.2):c.948-6986C>T - MYH11_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.948-6986C>T r.(=) p.(=) - benign g.15811062C>T g.15717205C>T MYH11(NM_001040113.1):c.5460G>A (p.K1820=), MYH11(NM_001040113.2):c.5460G>A (p.K1820=), NDE1(NM_001143979.2):c.948-6986C>T - MYH11_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - 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
?/. - 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 - - - 0 - VKGL-NL_Leiden
-/. - c.948-6917G>A r.(=) p.(=) - 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 - - - 0 - VKGL-NL_VUmc
-?/. - c.948-6917G>A r.(=) p.(=) - 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
-?/. - 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
-?/. - c.948-6917G>C r.(=) p.(=) - likely benign g.15811131G>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_Utrecht
?/. - 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
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