ClinVar for MedGen (Select 413414) - ClinVar

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

Links from MedGen

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1475342	NM_001018113.3(FANCB):c.1327-1G>A	FANCB	Single nucleotide variant (splice acceptor variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 1341341	NM_000546.6(TP53):c.72dup (p.Leu25fs)	TP53 (L25fs)	Duplication (frameshift variant +1 more)	Li-Fraumeni syndrome 1 +6 more	GPathogenic
Select item 951459	NM_000546.6(TP53):c.677G>C (p.Gly226Ala)	TP53 (G187A +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +12 more	GUncertain significance
Select item 634682	NM_000546.6(TP53):c.817C>G (p.Arg273Gly)	TP53 (R141G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +13 more	GPathogenic/Likely pathogenic
Select item 486139	NM_015450.3(POT1):c.1559A>G (p.Asp520Gly)	POT1 (D520G +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +2 more	GUncertain significance
Select item 482230	NM_000546.6(TP53):c.454C>T (p.Pro152Ser)	TP53 (P152S +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 482212	NM_000546.6(TP53):c.96+1G>T	TP53	Single nucleotide variant (splice donor variant)	Li-Fraumeni syndrome +12 more	GPathogenic/Likely pathogenic
Select item 458520	NM_000546.6(TP53):c.1140del (p.His380fs)	TP53 (H341fs +3 more)	Deletion (frameshift variant +1 more)	Li-Fraumeni syndrome +7 more	GConflicting classifications of pathogenicity
Select item 428908	NM_000546.6(TP53):c.559+1G>A	TP53	Single nucleotide variant (splice donor variant)	Bone osteosarcoma +13 more	GPathogenic/Likely pathogenic
Select item 428873	NM_000546.6(TP53):c.389T>C (p.Leu130Pro)	TP53 (L130P +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +12 more	GPathogenic
Select item 406605	NM_000546.6(TP53):c.760A>G (p.Ile254Val)	TP53 (I215V +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 389752	NM_000546.6(TP53):c.-12C>T	TP53	Single nucleotide variant (5 prime UTR variant)	Li-Fraumeni syndrome 1 +13 more	GConflicting classifications of pathogenicity
Select item 376659	NM_000546.6(TP53):c.845G>C (p.Arg282Pro)	TP53 (R150P +3 more)	Single nucleotide variant (missense variant)	Squamous cell carcinoma of the head and neck +14 more	GPathogenic/Likely pathogenic
Select item 376655	NM_000546.6(TP53):c.818G>T (p.Arg273Leu)	TP53 (R141L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +15 more	GPathogenic OOncogenic
Select item 375891	NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)	IDH1 (R132C)	Single nucleotide variant (missense variant)	Enchondromatosis +5 more	GPathogenic/Likely pathogenic OOncogenic
Select item 237950	NM_000546.6(TP53):c.461G>A (p.Gly154Asp)	TP53 (G115D +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GUncertain significance FDA Recognized database
Select item 220942	NM_000546.6(TP53):c.97-6C>T	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome 1 +17 more	GBenign/Likely benign
Select item 182970	NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)	TP53 (R210* +3 more)	Single nucleotide variant (nonsense +1 more)	Li-Fraumeni syndrome 1 +14 more	GPathogenic
Select item 182969	NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)	TP53 (G202R +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance FDA Recognized database
Select item 182947	NM_000546.6(TP53):c.672+18G>C	TP53	Single nucleotide variant (intron variant)	not specified +17 more	GBenign/Likely benign
Select item 177825	NM_000546.6(TP53):c.375G>A (p.Thr125=)	TP53	Single nucleotide variant (synonymous variant)	Li-Fraumeni syndrome +7 more	GPathogenic/Likely pathogenic OLikely oncogenic
Select item 156444	NM_005896.4(IDH1):c.395G>A (p.Arg132His)	IDH1 (R132H)	Single nucleotide variant (missense variant)	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria +4 more	GPathogenic/Likely pathogenic OOncogenic
Select item 141764	NM_000546.6(TP53):c.799C>T (p.Arg267Trp)	TP53 (R135W +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary +14 more	GPathogenic/Likely pathogenic
Select item 140786	NM_000546.5(TP53):c.319T>C (p.Tyr107His)	TP53 (Y107H +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GBenign FDA Recognized database
Select item 133284	NM_000546.6(TP53):c.460G>A (p.Gly154Ser)	TP53 (G115S +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +15 more	GUncertain significance
Select item 127824	NM_000546.6(TP53):c.847C>T (p.Arg283Cys)	TP53 (R151C +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GLikely benign 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 127810	NM_000546.6(TP53):c.466C>T (p.Arg156Cys)	TP53 (R117C +2 more)	Single nucleotide variant (missense variant +1 more)	Glioma susceptibility 1 +14 more	GConflicting classifications of pathogenicity
Select item 43588	NM_000546.6(TP53):c.139C>T (p.Pro47Ser)	TP53 (P47S +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GBenign FDA Recognized database
Select item 39420	NM_000546.6(TP53):c.542G>T (p.Arg181Leu)	TP53 (R181L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 13878	NM_004448.4(ERBB2):c.2740G>A (p.Glu914Lys)	ERBB2 (E914K +21 more)	Single nucleotide variant (missense variant +2 more)	Glioma susceptibility 1	GPathogenic
Select item 12379	NM_000546.6(TP53):c.1010G>A (p.Arg337His)	TP53 (R337H +3 more)	Single nucleotide variant (missense variant +1 more)	Squamous cell carcinoma of the head and neck +17 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)	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 12359	NM_000546.6(TP53):c.722C>T (p.Ser241Phe)	TP53 (S241F +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +15 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 12351	NM_000546.6(TP53):c.215C>G (p.Pro72Arg)	TP53 (P72R +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +17 more	GBenign OBenign
Select item 8139	NM_138711.6(PPARG):c.1341C>T (p.His447=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension +3 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 39