Knowledge base for genomic medicine in Japanese
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_001077365.2(POMT1):c.841C>T (p.Gln281Ter)POMT1Pathogenic9134385788134385788CTcriteria provided, multiple submitters, no conflictsClinGen:CA278042,OMIM:607423.0002
single nucleotide variantNM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)POMT1Pathogenic/Likely pathogenic9134385188134385188GCcriteria provided, multiple submitters, no conflictsClinGen:CA203493,UniProtKB:Q9Y6A1#VAR_022661,OMIM:607423.0005
single nucleotide variantNM_001077365.2(POMT1):c.193G>A (p.Gly65Arg)POMT1Pathogenic9134381571134381571GAcriteria provided, single submitterClinGen:CA116108,UniProtKB:Q9Y6A1#VAR_065027,OMIM:607423.0006,OMIM:607423.0010
single nucleotide variantNM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter)POMT1Pathogenic9134394332134394332CTcriteria provided, multiple submitters, no conflictsOMIM:607423.0011,OMIM:607423.0008,ClinGen:CA116110,LOVD 3:POMT1_000018
single nucleotide variantNM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)POMT1Pathogenic/Likely pathogenic9134397547134397547GAcriteria provided, multiple submitters, no conflictsClinGen:CA116114,UniProtKB:Q9Y6A1#VAR_065036,OMIM:607423.0013
single nucleotide variantNM_001077365.2(POMT1):c.1175+1G>APOMT1Pathogenic9134388719134388719GAcriteria provided, single submitterOMIM:607423.0014
DuplicationNM_001077365.2(POMT1):c.2101dup (p.Asp701fs)POMT1Pathogenic9134398412134398413CCGcriteria provided, multiple submitters, no conflictsClinGen:CA222996,OMIM:607423.0018
single nucleotide variantNM_017739.4(POMGNT1):c.1413+1G>TPOMGNT1Likely pathogenic14665797946657979CAcriteria provided, single submitterClinGen:CA116538,OMIM:606822.0001
single nucleotide variantNM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn)POMGNT1Likely pathogenic14665614546656145CTcriteria provided, single submitterClinGen:CA116540,UniProtKB:Q8WZA1#VAR_023109,OMIM:606822.0003
single nucleotide variantNM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)POMGNT1Pathogenic/Likely pathogenic14665806946658069GAcriteria provided, multiple submitters, no conflictsClinGen:CA116547,UniProtKB:Q8WZA1#VAR_023106,OMIM:606822.0007