C4748488[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 549856	NM_000546.6(TP53):c.1083del (p.Ser362fs)	TP53 (S323fs +3 more)	Deletion (frameshift variant +1 more)	Bone marrow failure syndrome 5	GPathogenic
Select item 549855	NM_000546.6(TP53):c.1077del (p.Ser362fs)	TP53 (S323fs +3 more)	Deletion (frameshift variant +1 more)	Bone marrow failure syndrome 5	GPathogenic
Select item 12379	NM_000546.6(TP53):c.1010G>A (p.Arg337His)	TP53 (R337H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +17 more	GPathogenic/Likely pathogenic
Select item 12366	NM_000546.6(TP53):c.818G>A (p.Arg273His)	TP53 (R273H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 12365	NM_000546.6(TP53):c.733G>A (p.Gly245Ser)	TP53 (G245S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 12359	NM_000546.6(TP53):c.722C>T (p.Ser241Phe)	TP53 (S241F +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +14 more	GPathogenic/Likely pathogenic
Select item 12374	NM_000546.6(TP53):c.524G>A (p.Arg175His)	TP53 (R175H +3 more)	Single nucleotide variant (missense variant)	not provided +15 more	GPathogenic
Select item 12351	NM_000546.6(TP53):c.215C>G (p.Pro72Arg)	TP53 (P72R +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +16 more	GBenign

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