膵臓がん・悪性黒色腫症候群

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_058195.4(CDKN2A):c.194-3653G>T	CDKN2A	Pathogenic	9	21974860	21974860	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA299030,OMIM:600160.0010
Insertion	NM_000077.5(CDKN2A):c.131_132insAA (p.Tyr44Ter)	CDKN2A	Pathogenic	9	21974695	21974696	G	GTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA299022
single nucleotide variant	NM_000077.5(CDKN2A):c.151-1G>C	CDKN2A	Pathogenic	9	21971208	21971208	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA299032
Deletion	NM_000077.5(CDKN2A):c.225_243del (p.Ala76fs)	CDKN2A	Pathogenic	9	21971115	21971133	CGGGTCGGGTGAGAGTGGCG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA299023
Deletion	NM_000077.5(CDKN2A):c.240_253del (p.Pro81fs)	CDKN2A	Pathogenic	9	21971105	21971118	GCGTCGTGCACGGGT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA299024
single nucleotide variant	NM_058195.4(CDKN2A):c.193+5G>A	CDKN2A	Pathogenic/Likely pathogenic	9	21994133	21994133	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA166694
Duplication	NM_000077.5(CDKN2A):c.106dup (p.Ala36fs)	CDKN2A	Pathogenic	9	21974720	21974721	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA196201
single nucleotide variant	NM_000077.5(CDKN2A):c.167G>T (p.Ser56Ile)	CDKN2A	Pathogenic/Likely pathogenic	9	21971191	21971191	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA120412,UniProtKB:P42771#VAR_001425,OMIM:600160.0018
single nucleotide variant	NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly)	CDKN2A	Pathogenic/Likely pathogenic	9	21971182	21971182	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA120402,UniProtKB:P42771#VAR_001427,OMIM:600160.0016
single nucleotide variant	NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp)	CDKN2A	Pathogenic	9	21970981	21970981	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA120398,UniProtKB:P42771#VAR_001479,OMIM:600160.0013