ClinVar (all) for Orgtrack (Select 509306) - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584758	NM_000455.5(STK11):c.667G>T (p.Glu223Ter)	STK11 (E223*)	Single nucleotide variant (nonsense +1 more)	Melanoma	GLikely pathogenic
Select item 2584757	NM_000455.5(STK11):c.431del (p.Pro144fs)	STK11 (P144fs)	Deletion (frameshift variant +1 more)	Melanoma	GLikely pathogenic
Select item 2584756	NM_000455.5(STK11):c.140del (p.Gly47fs)	STK11 (G47fs)	Deletion (frameshift variant +1 more)	Melanoma	GLikely pathogenic
Select item 2584755	NM_000546.6(TP53):c.652del (p.Val218fs)	TP53 (V179fs +3 more)	Deletion (frameshift variant)	Adrenal cortex carcinoma	GLikely pathogenic
Select item 2584754	NM_000546.6(TP53):c.722_724del (p.Ser241del)	TP53 (S109del +3 more)	Deletion (inframe_deletion +1 more)	Adrenal cortex carcinoma	GLikely pathogenic
Select item 2584753	NM_018557.3(LRP1B):c.3581G>T (p.Gly1194Val)	LRP1B (G1194V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2584752	NM_018557.3(LRP1B):c.3699C>A (p.His1233Gln)	LRP1B (H1233Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2584751	NM_018557.3(LRP1B):c.12253A>G (p.Ile4085Val)	LRP1B (I4085V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2584750	NM_018557.3(LRP1B):c.5062A>G (p.Ile1688Val)	LRP1B (I1688V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2584749	NM_018557.3(LRP1B):c.3978T>C (p.Ile1326=)	LRP1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2584748	NM_018557.3(LRP1B):c.4357C>A (p.Leu1453Ile)	LRP1B (L1453I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2584731	NM_001401501.2(MUC16):c.26738C>G (p.Ser8913Cys)	MUC16 (S8873C +2 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2584730	NM_001401501.2(MUC16):c.26832T>G (p.Pro8944=)	MUC16	Single nucleotide variant (synonymous variant)	Ovarian cancer	GLikely pathogenic
Select item 2584729	NM_001401501.2(MUC16):c.32216C>T (p.Pro10739Leu)	MUC16 (P10699L +2 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2584728	NM_001401501.2(MUC16):c.33244G>A (p.Val11082Met)	MUC16 (V11042M +2 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2584727	NM_001401501.2(MUC16):c.38195G>C (p.Ser12732Thr)	MUC16 (S12670T +3 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2584726	NM_001401501.2(MUC16):c.38199C>T (p.Ser12733=)	MUC16	Single nucleotide variant (synonymous variant)	Ovarian cancer +1 more	GConflicting classifications of pathogenicity
Select item 2584725	NM_001401501.2(MUC16):c.39417_39418inv (p.Gly13140Arg)	MUC16 (G13078R +3 more)	Inversion (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2584724	NM_001401501.2(MUC16):c.39435C>T (p.Cys13145=)	MUC16	Single nucleotide variant (synonymous variant)	Ovarian cancer	GLikely pathogenic
Select item 2584723	NM_001401501.2(MUC16):c.1098T>C (p.Ala366=)	MUC16	Single nucleotide variant (synonymous variant)	Ovarian cancer	GLikely pathogenic
Select item 2584722	NM_001401501.2(MUC16):c.4792C>A (p.Leu1598Ile)	MUC16 (L1558I +2 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2584721	NM_001401501.2(MUC16):c.9849A>G (p.Glu3283=)	MUC16	Single nucleotide variant (synonymous variant)	Ovarian cancer	GLikely pathogenic
Select item 2584720	NM_001401501.2(MUC16):c.23426C>T (p.Ser7809Phe)	MUC16 (S7769F +2 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2584719	NM_001401501.2(MUC16):c.25769C>T (p.Pro8590Leu)	MUC16 (P8550L +2 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2584718	NM_001401501.2(MUC16):c.25861G>A (p.Glu8621Lys)	MUC16 (E8581K +2 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2584717	NM_001401501.2(MUC16):c.43669del (p.Ser14557fs)	MUC16 (S13715fs +3 more)	Deletion (frameshift variant)	Ovarian cancer	GLikely pathogenic
Select item 2583131	NM_005228.5(EGFR):c.2239_2256delinsCAA (p.Leu747_Ser752delinsGln)	EGFR	Indel (inframe_indel)	Lung adenocarcinoma	GLikely pathogenic
Select item 2583130	NM_005228.5(EGFR):c.2555A>C (p.Lys852Thr)	EGFR (K585T +3 more)	Single nucleotide variant (missense variant)	Lung adenocarcinoma	GLikely pathogenic
Select item 2583129	NM_005228.5(EGFR):c.2499G>T (p.Leu833Phe)	EGFR (L566F +3 more)	Single nucleotide variant (missense variant)	Lung adenocarcinoma	GLikely pathogenic
Select item 2583128	NM_005228.5(EGFR):c.2318_2320delinsTCA (p.His773_Val774delinsLeuMet)	EGFR, EGFR-AS1	Indel (non-coding transcript variant +1 more)	Lung adenocarcinoma	GLikely pathogenic
Select item 2583127	NM_005228.5(EGFR):c.2252_2277delinsAT (p.Thr751_Ile759delinsAsn)	EGFR	Indel (inframe_indel)	Lung adenocarcinoma	GLikely pathogenic
Select item 2583126	NM_005228.5(EGFR):c.709_710delinsTT (p.Ala237Phe)	EGFR (A184F +2 more)	Indel (missense variant +1 more)	Lung adenocarcinoma	GLikely pathogenic
Select item 1523057	NM_005228.5(EGFR):c.2326C>T (p.Arg776Cys)	EGFR, EGFR-AS1 (R723C +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	EGFR-related lung cancer	GUncertain significance
Select item 634785	NM_000546.6(TP53):c.437G>A (p.Trp146Ter)	TP53 (W107* +2 more)	Single nucleotide variant (nonsense +1 more)	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 634766	NM_000546.6(TP53):c.993+1G>T	TP53	Single nucleotide variant (splice donor variant)	Li-Fraumeni syndrome	GPathogenic
Select item 634754	NM_000546.6(TP53):c.661G>T (p.Glu221Ter)	TP53 (E182* +3 more)	Single nucleotide variant (nonsense)	Li-Fraumeni syndrome +1 more	GPathogenic
Select item 634687	NM_000546.6(TP53):c.538G>T (p.Glu180Ter)	TP53 (E141* +3 more)	Single nucleotide variant (nonsense)	Li-Fraumeni syndrome 1	GPathogenic
Select item 578988	NM_000546.6(TP53):c.378C>G (p.Tyr126Ter)	TP53 (Y126* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 428884	NM_000546.6(TP53):c.313G>A (p.Gly105Ser)	TP53 (G105S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 406597	NM_000546.6(TP53):c.329G>T (p.Arg110Leu)	TP53 (R110L +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GPathogenic/Likely pathogenic
Select item 406579	NM_000546.6(TP53):c.574C>T (p.Gln192Ter)	TP53 (Q153* +3 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic OOncogenic
Select item 376559	NM_000546.6(TP53):c.404G>T (p.Cys135Phe)	TP53 (C135F +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 265357	NM_000546.6(TP53):c.734G>C (p.Gly245Ala)	TP53 (G113A +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 192227	NM_000455.5(STK11):c.842del (p.Pro281fs)	STK11 (P281fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 186451	NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)	TP53 (C137Y +3 more)	Single nucleotide variant (missense variant)	Squamous cell carcinoma +6 more	GPathogenic
Select item 184863	NM_000546.6(TP53):c.413C>T (p.Ala138Val)	TP53 (A138V +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 177776	NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser)	BRAF (N581S +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma	GLikely pathogenic
Select item 177684	NM_005228.5(EGFR):c.2239_2248delinsC (p.Leu747_Ala750delinsPro)	EGFR	Indel (inframe_indel)	Tyrosine kinase inhibitor response	Gdrug response
Select item 177652	NM_005228.5(EGFR):c.2237_2255delinsT (p.Glu746_Ser752delinsVal)	EGFR	Indel (inframe_indel)	Lung adenocarcinoma +1 more	GLikely pathogenic; drug response
Select item 177649	NM_005228.5(EGFR):c.2240_2254del (p.Leu747_Thr751del)	EGFR	Deletion (inframe_deletion)	Lung adenocarcinoma +1 more	GLikely pathogenic; drug response
Select item 177647	NM_005228.5(EGFR):c.2239_2256del (p.Leu747_Ser752del)	EGFR	Deletion (inframe_deletion)	Lung adenocarcinoma +1 more	GLikely pathogenic; drug response
Select item 177620	NM_005228.5(EGFR):c.2236_2250del (p.Glu746_Ala750del)	EGFR	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 163380	NM_005228.5(EGFR):c.2582T>A (p.Leu861Gln)	EGFR (L861Q +3 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma +3 more	GPathogenic/Likely pathogenic; drug response
Select item 163343	NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del)	EGFR	Deletion (inframe_deletion)	Lung adenocarcinoma +2 more	GConflicting classifications of pathogenicity OOncogenic
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 127817	NM_000546.6(TP53):c.580C>T (p.Leu194Phe)	TP53 (L155F +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GPathogenic/Likely pathogenic
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 45279	NM_005228.5(EGFR):c.2500G>T (p.Val834Leu)	EGFR (V834L +3 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma	GPathogenic
Select item 45277	NM_005228.5(EGFR):c.2497T>G (p.Leu833Val)	EGFR (L833V +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 45253	NM_005228.5(EGFR):c.2303_2311dup (p.Ser768_Asp770dup)	EGFR, EGFR-AS1	Duplication (non-coding transcript variant +1 more)	Tyrosine kinase inhibitor response	Gdrug response
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 45122	NM_004985.5(KRAS):c.35G>C (p.Gly12Ala)	KRAS (G12A)	Single nucleotide variant (missense variant)	KRAS-related disorder +1 more	GLikely pathogenic OOncogenic
Select item 45115	NM_004985.5(KRAS):c.182A>G (p.Gln61Arg)	KRAS (Q61R)	Single nucleotide variant (missense variant)	RASopathy +3 more	GConflicting classifications of pathogenicity OOncogenic
Select item 44992	NM_004448.4(ERBB2):c.2331_2339dup (p.Gly778_Pro780dup)	ERBB2	Duplication (inframe_insertion +2 more)	Non-small cell lung carcinoma +1 more	GPathogenic OOncogenic
Select item 44985	NM_004448.4(ERBB2):c.2314_2325dup (p.Tyr772_Ala775dup)	ERBB2	Duplication (inframe_insertion +2 more)	Non-small cell lung carcinoma	GLikely pathogenic
Select item 44813	NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)	BRAF (D594N +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma	GLikely pathogenic
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 16612	NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser)	EGFR (G719S +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer +1 more	GUncertain significance; drug response
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 16608	NM_005228.5(EGFR):c.2240_2257del (p.Leu747_Pro753delinsSer)	EGFR	Deletion (inframe_indel)	Tyrosine kinase inhibitor response +2 more	GLikely pathogenic; drug response
Select item 13972	NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)	BRAF (D594G +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma +1 more	GConflicting classifications of pathogenicity
Select item 13966	NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu)	BRAF (K601E +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma	GPathogenic
Select item 13877	NM_004448.4(ERBB2):c.2263_2264delinsCC (p.Leu755Pro)	ERBB2 (L755P +17 more)	Indel (missense variant +2 more)	Breast neoplasm +7 more	GPathogenic/Likely pathogenic
Select item 13875	NM_004448.4(ERBB2):c.2313_2324dup (p.Tyr772_Ala775dup)	ERBB2	Duplication (inframe_insertion +2 more)	Non-small cell lung carcinoma	GLikely pathogenic
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 12375	NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)	TP53 (L344P +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GLikely pathogenic FDA Recognized database
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

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Items: 78