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

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

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	LOC126862483, TP53 +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	WRAP53, LOC126862483 +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	TP53, WRAP53	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	LOC126862483, LOC130060172 +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)	Dyskeratosis congenita, autosomal recessive 3 +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)	Li-Fraumeni syndrome +1 more	GUncertain significance
Select item 265275	NM_000546.6(TP53):c.-48G>A	LOC126862483, TP53 +1 more	Single nucleotide variant (5 prime UTR 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	NM_000546.5(TP53):c.-202_-29+?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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 24