Related gene-specific medical variations for Gene (Select 55135) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2697350	NM_000546.6(TP53):c.-29+1G>T	LOC126862483, TP53 +1 more	Single nucleotide variant (splice donor variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 1692472	NM_000546.6(TP53):c.-29+1del	WRAP53, LOC126862483 +1 more	Deletion (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1524222	NM_000546.6(TP53):c.-29+1G>C	LOC126862483, TP53 +1 more	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1438995	NC_000017.10:g.(?_7589449)_(7590694_?)dup	WRAP53, TP53	Duplication	Li-Fraumeni syndrome	GUncertain significance
Select item 1415968	NM_000546.6(TP53):c.-29+1G>A	LOC126862483, TP53 +1 more	Single nucleotide variant (splice donor variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 1327075	NM_001143992.2(WRAP53):c.1168G>A (p.Ala390Thr)	WRAP53 (A390T)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 891589	NM_000546.6(TP53):c.-123C>T	LOC126862483, TP53 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Li-Fraumeni syndrome 1	GUncertain significance
Select item 803312	NM_000546.6(TP53):c.-43G>T	LOC126862483, TP53 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Squamous cell carcinoma of the head and neck	GLikely benign
Select item 803311	NM_000546.6(TP53):c.-29+5G>T	LOC126862483, TP53 +1 more	Single nucleotide variant (intron variant)	Squamous cell carcinoma of the head and neck	GUncertain significance
Select item 646408	NC_000017.10:g.(?_7589449)_(7590046_?)dup	LOC130060172, LOC126862483 +2 more	Duplication	Li-Fraumeni syndrome	GUncertain significance
Select item 516754	NM_000546.6(TP53):c.-29+9C>T	LOC126862483, TP53 +1 more	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 437015	NM_000546.6(TP53):c.-111A>G	LOC126862483, TP53 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 369235	NM_018081.2(WRAP53):c.-245G>C	LOC130060173, TP53 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Li-Fraumeni syndrome +2 more	GBenign/Likely benign
Select item 325647	NM_018081.2(WRAP53):c.-255G>A	LOC130060173, WRAP53	Single nucleotide variant (5 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 325646	NM_000546.6(TP53):c.-102C>G	LOC126862483, TP53 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Li-Fraumeni syndrome 1 +1 more	GUncertain significance
Select item 325645	NM_000546.6(TP53):c.-94C>T	LOC126862483, TP53 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Li-Fraumeni syndrome 1 +1 more	GUncertain significance
Select item 325644	NM_000546.6(TP53):c.-73C>A	LOC126862483, TP53 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Dyskeratosis Congenita, Recessive +1 more	GUncertain significance
Select item 265275	NM_000546.6(TP53):c.-48G>A	LOC126862483, TP53 +1 more	Single nucleotide variant (genic upstream transcript variant +3 more)	not specified +1 more	GUncertain significance
Select item 254053	NM_000546.5(TP53):c.-202_-29+?dup174	LOC126862483, TP53 +1 more	Duplication	Li-Fraumeni syndrome	GUncertain significance
Select item 254052	NC_000017.11:g.(?_7687377)_(7687550_?)del	LOC126862483, TP53 +1 more	Deletion	Li-Fraumeni syndrome	GLikely pathogenic
Select item 246194	NM_000546.6(TP53):c.-42C>T	LOC126862483, TP53 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 224043	NM_000546.6(TP53):c.-29+269G>A	LOC126862483, TP53 +1 more	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 127803	NM_000546.6(TP53):c.-29+4A>C	LOC126862483, TP53 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 100869	NM_001143992.2(WRAP53):c.1510T>C (p.Ser504Pro)	WRAP53 (S504P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Links from Gene

Items: 24