ClinVar for MedGen (Select 195765) - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3257758	NM_004333.6(BRAF):c.1798_1799delinsAA	BRAF (V600E +15 more)	Single nucleotide variant (missense variant)	Neoplasm	OOncogenic
Select item 983225	NM_000245.4(MET):c.3028G>A (p.Asp1010Asn)	MET (D1010N +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 802321	NM_005228.5(EGFR):c.3320A>G (p.Asn1107Ser)	EGFR (N1107S +3 more)	Single nucleotide variant (missense variant)	Lung carcinoma	GUncertain significance
Select item 802320	NM_005228.5(EGFR):c.2896A>G (p.Ile966Val)	EGFR (I913V +3 more)	Single nucleotide variant (missense variant)	Lung carcinoma	GLikely benign
Select item 802319	NM_005228.5(EGFR):c.2469+8G>A	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer +1 more	GConflicting classifications of pathogenicity
Select item 802318	NM_005228.5(EGFR):c.1920-100A>G	EGFR	Single nucleotide variant (intron variant)	Lung carcinoma	GLikely benign
Select item 802317	NM_005228.5(EGFR):c.1840G>A (p.Gly614Ser)	EGFR (G561S +3 more)	Single nucleotide variant (missense variant)	Lung carcinoma +1 more	GConflicting classifications of pathogenicity
Select item 802316	NM_005228.5(EGFR):c.1472T>C (p.Ile491Thr)	EGFR (I224T +3 more)	Single nucleotide variant (missense variant)	Lung carcinoma	GLikely benign
Select item 802315	NM_005228.5(EGFR):c.559+46G>A	EGFR	Single nucleotide variant (intron variant)	Lung carcinoma	GLikely benign
Select item 802314	NM_005228.5(EGFR):c.551T>C (p.Leu184Pro)	EGFR (L131P +1 more)	Single nucleotide variant (missense variant +1 more)	Lung carcinoma +1 more	GConflicting classifications of pathogenicity
Select item 802313	NM_005228.5(EGFR):c.551T>A (p.Leu184Gln)	EGFR (L131Q +1 more)	Single nucleotide variant (missense variant +1 more)	Lung carcinoma +1 more	GConflicting classifications of pathogenicity
Select item 802312	NM_005228.5(EGFR):c.59C>A (p.Pro20Gln)	EGFR (P20Q)	Single nucleotide variant (missense variant)	Lung carcinoma +1 more	GUncertain significance
Select item 802311	NM_005228.5(EGFR):c.-106G>A	EGFR	Single nucleotide variant (5 prime UTR variant)	Lung carcinoma	GLikely benign
Select item 627530	t(2;3)(p12;p14.3)	ALK, SLMAP	Translocation	Lung carcinoma	GPathogenic
Select item 620148	NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter)	PPM1D (R552*)	Single nucleotide variant (nonsense)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 584696	NM_005228.5(EGFR):c.2485G>C (p.Glu829Gln)	EGFR (E829Q +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer +1 more	GUncertain significance
Select item 584692	NM_005228.5(EGFR):c.1916A>C (p.Asn639Thr)	EGFR (N639T +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer +1 more	GUncertain significance
Select item 584689	NM_005228.5(EGFR):c.1774G>A (p.Val592Ile)	EGFR (V592I +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 584686	NM_005228.5(EGFR):c.509G>A (p.Ser170Asn)	EGFR (S170N +1 more)	Single nucleotide variant (missense variant +1 more)	Lung carcinoma +1 more	GConflicting classifications of pathogenicity
Select item 584684	NM_005228.5(EGFR):c.116C>T (p.Thr39Met)	EGFR (T39M)	Single nucleotide variant (missense variant +2 more)	Lung carcinoma +1 more	GUncertain significance
Select item 561797	NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys)	BRAF (Y647C +7 more)	Single nucleotide variant (missense variant)	Lung carcinoma +6 more	GUncertain significance
Select item 526641	NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile)	PIK3CA (V146I)	Single nucleotide variant (missense variant)	Familial cancer of breast +14 more	GUncertain significance
Select item 403909	NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg)	PIK3CA (P377R)	Single nucleotide variant (missense variant)	PIK3CA-related disorder +14 more	GUncertain significance
Select item 376740	NM_005228.5(EGFR):c.2245G>C (p.Glu749Gln)	EGFR (E749Q +3 more)	Single nucleotide variant (missense variant)	Lung carcinoma	GLikely pathogenic
Select item 376704	NM_005406.3(ROCK1):c.3577C>T (p.Pro1193Ser)	ROCK1 (P1193S)	Single nucleotide variant (missense variant)	Lung carcinoma +1 more	GLikely pathogenic
Select item 375950	NM_004333.6(BRAF):c.1405_1406delinsTT (p.Gly469Leu)	BRAF (G469L +7 more)	Indel (missense variant)	Lung carcinoma	GPathogenic
Select item 375949	NM_004333.6(BRAF):c.1415A>G (p.Tyr472Cys)	BRAF (Y472C +7 more)	Single nucleotide variant (missense variant)	Lung carcinoma +1 more	GConflicting classifications of pathogenicity
Select item 372627	NM_004333.6(BRAF):c.1166G>A (p.Arg389His)	BRAF (R389H +4 more)	Single nucleotide variant (missense variant +1 more)	Lung carcinoma +7 more	GUncertain significance
Select item 372564	NM_004333.6(BRAF):c.437G>A (p.Arg146Gln)	BRAF (R146Q +2 more)	Single nucleotide variant (missense variant +1 more)	Lung carcinoma +7 more	GConflicting classifications of pathogenicity
Select item 360469	NM_005228.5(EGFR):c.3139G>A (p.Val1047Met)	EGFR (V1047M +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer +1 more	GConflicting classifications of pathogenicity
Select item 208822	NM_005228.5(EGFR):c.2512C>G (p.Leu838Val)	EGFR (L838V +3 more)	Single nucleotide variant (missense variant)	Lung carcinoma	GUncertain significance
Select item 208821	NM_005228.5(EGFR):c.2305G>A (p.Val769Met)	EGFR, EGFR-AS1 (V769M +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 195555	NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser)	ERCC6 (G1356S)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 190173	NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly)	ERCC6 (R1396G)	Single nucleotide variant (missense variant)	not specified +9 more	GUncertain significance
Select item 190164	NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)	ERCC6 (Q1041P)	Single nucleotide variant (missense variant)	not provided +12 more	GConflicting classifications of pathogenicity
Select item 190163	NM_000124.4(ERCC6):c.2830-2A>G	ERCC6, LOC126860933	Single nucleotide variant (splice acceptor variant)	not provided +7 more	GPathogenic
Select item 190156	NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)	ERCC6 (R666C)	Single nucleotide variant (missense variant)	not provided +12 more	GConflicting classifications of pathogenicity
Select item 163335	NM_005228.5(EGFR):c.2126A>G (p.Glu709Gly)	EGFR (E709G +3 more)	Single nucleotide variant (missense variant)	Tyrosine kinase inhibitor response	Gdrug response
Select item 128059	NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)	CHEK2 (R474C +4 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 45297	NM_005228.5(EGFR):c.2862C>T (p.Asp954=)	EGFR	Single nucleotide variant (synonymous variant)	Lung carcinoma +2 more	GLikely benign
Select item 45282	NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu)	EGFR (P848L +3 more)	Single nucleotide variant (missense variant)	Lung carcinoma +4 more	GConflicting classifications of pathogenicity
Select item 45280	NM_005228.5(EGFR):c.2504A>T (p.His835Leu)	EGFR (H835L +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 45271	NM_005228.5(EGFR):c.2361G>A (p.Gln787=)	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GBenign
Select item 45236	NM_005228.5(EGFR):c.2240T>C (p.Leu747Ser)	EGFR (L747S +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 45219	NM_005228.5(EGFR):c.2126A>C (p.Glu709Ala)	EGFR (E709A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 44811	NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys)	BRAF (N581K +7 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 40347	NM_004333.6(BRAF):c.735A>C (p.Leu245Phe)	BRAF (L245F +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GPathogenic FDA Recognized database
Select item 39705	NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)	PIK3CA (H1047Y)	Single nucleotide variant (missense variant)	CLOVES syndrome +18 more	GPathogenic
Select item 29807	NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)	BRAF (T241P +4 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1 +7 more	GPathogenic/Likely pathogenic
Select item 29805	NM_004333.6(BRAF):c.722C>T (p.Thr241Met)	BRAF (T241M +4 more)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 16809	NM_000903.3(NQO1):c.559C>T (p.Pro187Ser)	NQO1 (P187S +3 more)	Single nucleotide variant (missense variant)	NQO1-related disorder +3 more	GConflicting classifications of pathogenicity; risk factor
Select item 16613	NM_005228.5(EGFR):c.2369C>T (p.Thr790Met)	EGFR, EGFR-AS1 (T790M +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	gefitinib response - Efficacy +2 more	Gdrug response OOncogenic
Select item 16609	NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg)	EGFR (L858R +3 more)	Single nucleotide variant (missense variant)	gefitinib response - Efficacy +1 more	Gdrug response STier I - Strong
Select item 13981	NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)	BRAF (D638E +7 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 3 +7 more	GPathogenic/Likely pathogenic
Select item 13971	NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala)	BRAF (G469A +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma	GPathogenic
Select item 13969	NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)	BRAF (L597V +7 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 13967	NM_004333.6(BRAF):c.1397G>T (p.Gly466Val)	BRAF (G466V +7 more)	Single nucleotide variant (missense variant)	Malignant melanoma of skin +7 more	GPathogenic/Likely pathogenic
Select item 13961	NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)	BRAF (V600E +7 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic STier I - Strong OOncogenic
Select item 13657	NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys)	PIK3CA (Q546K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 12587	NM_004985.5(KRAS):c.458A>T (p.Asp153Val)	KRAS (D153V)	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 12582	NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)	KRAS (G12D)	Single nucleotide variant (missense variant)	RASopathy +6 more	GPathogenic/Likely pathogenic OOncogenic
Select item 12578	NM_004985.5(KRAS):c.34G>T (p.Gly12Cys)	KRAS (G12C)	Single nucleotide variant (missense variant)	RASopathy +1 more	GLikely pathogenic OOncogenic
Select item 7050	NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)	PRKN (R275W +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive juvenile Parkinson disease 2 +6 more	GPathogenic/Likely pathogenic
Select item 6978	NM_002555.6(SLC22A18):c.698C>T (p.Ser233Phe)	SLC22A18 (S233F +2 more)	Single nucleotide variant (missense variant)	Lung carcinoma	GPathogenic
Select item 6621	NM_002716.5(PPP2R1B):c.269G>A (p.Gly90Asp)	PPP2R1B (G90D)	Single nucleotide variant (missense variant +1 more)	Lung carcinoma	GPathogenic
Select item 1703	NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)	ERCC6, PGBD3 (R453*)	Single nucleotide variant (nonsense +1 more)	not provided +7 more	GPathogenic

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Items: 66