ClinVar (all) for Orgtrack (Select 505886) - ClinVar

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

Links from Orgtrack

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242238	NM_004959.5(NR5A1):c.393G>A (p.Pro131=)	NR5A1	Single nucleotide variant (synonymous variant)	46,XY disorder of sex development	GBenign
Select item 3242237	NM_003140.3(SRY):c.-33T>A	LOC108178989, SRY	Single nucleotide variant (5 prime UTR variant)	46,XY disorder of sex development	GBenign
Select item 3242236	NM_003140.3(SRY):c.568A>C (p.Ser190Arg)	SRY (S190R)	Single nucleotide variant (missense variant)	46,XY disorder of sex development	GBenign
Select item 988617	NM_000546.6(TP53):c.576G>C (p.Gln192His)	TP53 (Q153H +3 more)	Single nucleotide variant (missense variant)	Malignant tumor of esophagus	GLikely benign
Select item 988616	NM_000546.6(TP53):c.840A>T (p.Arg280Ser)	TP53 (R121S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 988615	NM_000546.6(TP53):c.400T>G (p.Phe134Val)	TP53 (F134V +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 984967	NM_000546.6(TP53):c.431_433del (p.Gln144del)	TP53 (Q105del +2 more)	Deletion (inframe_deletion +1 more)	Colorectal cancer	GPathogenic
Select item 984966	NM_000546.6(TP53):c.628_639del (p.Asn210_Arg213del)	TP53	Deletion (inframe_deletion)	Malignant tumor of esophagus	GPathogenic
Select item 984965	NM_000546.6(TP53):c.851_855del (p.Thr284fs)	TP53 (T125fs +3 more)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 984964	NM_000546.6(TP53):c.848_849del (p.Arg283fs)	TP53 (R124fs +3 more)	Microsatellite (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 962629	NM_000546.6(TP53):c.626G>A (p.Arg209Lys)	TP53 (R50K +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 826438	NM_000546.6(TP53):c.648G>C (p.Val216=)	TP53	Single nucleotide variant (synonymous variant)	Li-Fraumeni syndrome +3 more	GBenign/Likely benign
Select item 659670	NM_000546.6(TP53):c.383del (p.Pro128fs)	TP53 (P128fs +1 more)	Deletion (frameshift variant +1 more)	Li-Fraumeni syndrome 1 +3 more	GPathogenic
Select item 634674	NM_000546.6(TP53):c.298del (p.Gln100fs)	TP53 (Q100fs +1 more)	Deletion (frameshift variant)	Malignant tumor of esophagus	GPathogenic
Select item 406596	NM_000546.6(TP53):c.646G>C (p.Val216Leu)	TP53 (V84L +3 more)	Single nucleotide variant (missense variant)	Squamous cell carcinoma of the head and neck +1 more	GConflicting classifications of pathogenicity
Select item 376633	NM_000546.6(TP53):c.581T>G (p.Leu194Arg)	TP53 (L155R +3 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 376617	NM_000546.6(TP53):c.583A>T (p.Ile195Phe)	TP53 (I156F +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 376599	NM_000546.6(TP53):c.730G>T (p.Gly244Cys)	TP53 (G112C +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 376568	NM_000546.6(TP53):c.422G>T (p.Cys141Phe)	TP53 (C102F +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 259591	NM_004959.5(NR5A1):c.437G>C (p.Gly146Ala)	NR5A1 (G146A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 230629	NM_000546.6(TP53):c.459C>T (p.Pro153=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 184979	NM_000546.6(TP53):c.578A>G (p.His193Arg)	TP53 (H154R +3 more)	Single nucleotide variant (missense variant)	Squamous cell carcinoma of the head and neck +5 more	GPathogenic/Likely pathogenic
Select item 184179	NM_000546.6(TP53):c.903A>G (p.Pro301=)	TP53	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +6 more	GBenign/Likely benign
Select item 184112	NM_000546.6(TP53):c.63C>T (p.Asp21=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 182930	NM_000546.6(TP53):c.493C>T (p.Gln165Ter)	TP53 (Q126* +3 more)	Single nucleotide variant (nonsense)	Squamous cell carcinoma of the head and neck +5 more	GPathogenic
Select item 142766	NM_000546.6(TP53):c.455C>T (p.Pro152Leu)	TP53 (P113L +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 127819	NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)	TP53 (Y181C +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 127811	NM_000546.6(TP53):c.467G>A (p.Arg156His)	TP53 (R117H +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GUncertain significance FDA Recognized database
Select item 43590	NM_000546.6(TP53):c.637C>T (p.Arg213Ter)	TP53 (R174* +3 more)	Single nucleotide variant (nonsense)	Colorectal cancer +6 more	GPathogenic
Select item 12374	NM_000546.6(TP53):c.524G>A (p.Arg175His)	TP53 (R175H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 12366	NM_000546.6(TP53):c.818G>A (p.Arg273His)	TP53 (R273H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic 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 12364	NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	TP53 (R282W +3 more)	Single nucleotide variant (missense variant)	not provided +10 more	GPathogenic/Likely pathogenic OOncogenic
Select item 12356	NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	TP53 (R248Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 12352	NM_000546.6(TP53):c.747G>T (p.Arg249Ser)	TP53 (R249S +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Orgtrack

Items: 35