ClinVar for MedGen (Select 2874) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2431189	NM_000870.7(HTR4):c.26+354C>A	HTR4	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GBenign
Select item 2431188	NM_001382430.1(AKT1):c.-257-87C>T	AKT1	Single nucleotide variant (5 prime UTR variant +1 more)	Squamous cell carcinoma	GBenign
Select item 2431187	NM_000546.6(TP53):c.673-110G>A	TP53	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431186	NM_002019.4(FLT1):c.513+216C>T	FLT1	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431185	NM_001378902.1(ROS1):c.3366+23T>C	ROS1	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431170	NM_001127208.3(TET2):c.2446A>G (p.Asn816Asp)	TET2, TET2-AS1 (N816D)	Single nucleotide variant (missense variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431168	NM_001964.3(EGR1):c.-205G>A	EGR1, LOC126807524	Single nucleotide variant (5 prime UTR variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431166	NM_024832.5(RIN3):c.-7C>A	RIN3	Single nucleotide variant (5 prime UTR variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431165	NM_001304359.2(MUC5AC):c.7411G>C (p.Ala2471Pro)	MUC5AC (A2471P)	Single nucleotide variant (missense variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431164	NM_000745.4(CHRNA5):c.*747T>C	CHRNA3, CHRNA5	Single nucleotide variant (non-coding transcript variant +2 more)	Squamous cell carcinoma	GUncertain significance
Select item 2431159	NM_014491.4(FOXP2):c.2003+2748G>A	FOXP2	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431157	NM_001304359.2(MUC5AC):c.6811G>T (p.Ala2271Ser)	MUC5AC (A2271S)	Single nucleotide variant (missense variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431156	NM_005228.5(EGFR):c.*2368G>T	EGFR	Single nucleotide variant (3 prime UTR variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431155	NM_001079668.3(NKX2-1):c.*726G>C	NKX2-1, SFTA3	Single nucleotide variant (3 prime UTR variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431151	NM_001304359.2(MUC5AC):c.10898C>T (p.Ala3633Val)	MUC5AC (A3633V)	Single nucleotide variant (missense variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431150	NM_138554.5(TLR4):c.*6290C>A	TLR4	Single nucleotide variant (3 prime UTR variant)	Squamous cell carcinoma	GLikely benign
Select item 2431149	NM_000038.6(APC):c.1743+254T>C	APC	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431148	NM_002019.4(FLT1):c.64+22G>T	FLT1, LOC130009460	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431126	NM_203416.4(CD163):c.1100-317C>A	CD163	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431120	NM_001382430.1(AKT1):c.633+300T>C	AKT1	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431115	NM_207517.3(ADAMTSL3):c.1700+350A>T	ADAMTSL3	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431112	NM_000743.5(CHRNA3):c.267+14C>T	CHRNA3	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431110	NM_001243133.2(NLRP3):c.398-24C>G	NLRP3	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431109	NM_207517.3(ADAMTSL3):c.2490+207A>C	ADAMTSL3	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431108	NM_207517.3(ADAMTSL3):c.2490+210C>G	ADAMTSL3	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431107	NM_033274.5(ADAM19):c.252-193T>G	ADAM19	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431106	NM_033274.5(ADAM19):c.252-190C>A	ADAM19	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431104	NM_005228.5(EGFR):c.2701+77T>G	EGFR	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431084	NM_000295.5(SERPINA1):c.844G>A (p.Gly282Arg)	SERPINA1 (G282R)	Single nucleotide variant (missense variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431083	NM_005228.5(EGFR):c.3114+101A>G	EGFR	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431082	NM_000455.5(STK11):c.1109-955A>G	STK11	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GBenign
Select item 2431079	NM_002019.4(FLT1):c.3815+159A>G	FLT1	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GBenign
Select item 2431072	NM_000321.3(RB1):c.1172C>G (p.Ser391Ter)	RB1 (S391*)	Single nucleotide variant (nonsense)	Squamous cell carcinoma	GPathogenic
Select item 2431071	NM_000455.5(STK11):c.464+140dup	LOC110006318, STK11	Duplication (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431065	NM_000249.4(MLH1):c.116+1017T>A	MLH1	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 2394713	NM_014883.4(FAM13A):c.2465C>T (p.Pro822Leu)	FAM13A (P482L +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 376279	NM_005228.5(EGFR):c.2429G>A (p.Gly810Asp)	EGFR, EGFR-AS1 (G810D +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Squamous cell carcinoma	GLikely pathogenic
Select item 376278	NM_005228.5(EGFR):c.2428G>A (p.Gly810Ser)	EGFR, EGFR-AS1 (G810S +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Squamous cell carcinoma	GLikely pathogenic
Select item 375878	NM_006182.4(DDR2):c.2304T>A (p.Ser768Arg)	DDR2 (S768R)	Single nucleotide variant (missense variant)	Squamous cell carcinoma	GPathogenic
Select item 301439	NM_000314.8(PTEN):c.*667A>T	PTEN	Single nucleotide variant (3 prime UTR variant)	PTEN hamartoma tumor syndrome +2 more	GConflicting classifications of pathogenicity
Select item 186451	NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)	TP53 (C137Y +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic
Select item 12353	NM_000546.6(TP53):c.469G>T (p.Val157Phe)	TP53 (V157F +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity

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Items: 42