List of variants in gene MYO5B reported as pathogenic for digestive system disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_001080467.3(MYO5B):c.3163_3165dup (p.Leu1055dup)	rs397841722	0.31640
NM_001080467.3(MYO5B):c.1201C>T (p.Arg401Cys)	rs761492029	0.00004
NM_001080467.3(MYO5B):c.1125G>A (p.Trp375Ter)	rs121908104	0.00003
NM_001080467.3(MYO5B):c.946G>A (p.Gly316Arg)	rs753558336	0.00003
NM_001080467.3(MYO5B):c.1347del (p.Phe450fs)	rs1298330895	0.00002
NM_001080467.3(MYO5B):c.1021C>T (p.Gln341Ter)	rs776708126	0.00001
NM_001080467.3(MYO5B):c.1202G>A (p.Arg401His)	rs1555648414	0.00001
NM_001080467.3(MYO5B):c.1463T>C (p.Ile488Thr)	rs780547885	0.00001
NM_001080467.3(MYO5B):c.2003+2T>A	rs727505394	0.00001
NM_001080467.3(MYO5B):c.2062C>T (p.Arg688Ter)	rs1014035512	0.00001
NM_001080467.3(MYO5B):c.2395C>T (p.Arg799Trp)	rs575729461	0.00001
NM_001080467.3(MYO5B):c.274C>T (p.Arg92Cys)	rs372682296	0.00001
NM_001080467.3(MYO5B):c.656G>A (p.Arg219His)	rs1053713532	0.00001
NM_001080467.3(MYO5B):c.1110_1113del (p.Ser370fs)
NM_001080467.3(MYO5B):c.1323-2A>G	rs1568049625
NM_001080467.3(MYO5B):c.1363_1364insGTTCTGTAA (p.Cys454_Ile455insSerSerVal)
NM_001080467.3(MYO5B):c.1540T>C (p.Cys514Arg)	rs760515993
NM_001080467.3(MYO5B):c.1860dup (p.Met621fs)	rs1258766593
NM_001080467.3(MYO5B):c.1966C>T (p.Arg656Cys)	rs121908105
NM_001080467.3(MYO5B):c.1979C>T (p.Pro660Leu)	rs121908106
NM_001080467.3(MYO5B):c.2259_2262dup (p.Tyr755fs)	rs2144150824
NM_001080467.3(MYO5B):c.2330del (p.Gly777fs)	rs1568025953
NM_001080467.3(MYO5B):c.2414+5G>T	rs2144150424
NM_001080467.3(MYO5B):c.2470C>T (p.Arg824Cys)	rs777038090
NM_001080467.3(MYO5B):c.2641C>T (p.Gln881Ter)	rs1598870169
NM_001080467.3(MYO5B):c.28-2A>G	rs2144417768
NM_001080467.3(MYO5B):c.323T>G (p.Val108Gly)	rs121908103
NM_001080467.3(MYO5B):c.3538-1G>A	rs2144094082
NM_001080467.3(MYO5B):c.356A>G (p.Tyr119Cys)	rs2144383876
NM_001080467.3(MYO5B):c.4028T>C (p.Leu1343Pro)	rs779188563
NM_001080467.3(MYO5B):c.4090C>T (p.Gln1364Ter)	rs1264355256
NM_001080467.3(MYO5B):c.[1135C>T;2470C>T]

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