C0027651[trait identifier] AND "Database of Curated Mutations (DoCM)"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 375876	NM_002524.5(NRAS):c.38G>T (p.Gly13Val)	NRAS (G13V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 2233	NM_000551.4(VHL):c.241C>T (p.Pro81Ser)	VHL (P81S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 376222	NM_000551.4(VHL):c.254T>C (p.Leu85Pro)	VHL (L85P)	Single nucleotide variant (missense variant)	Chuvash polycythemia +1 more	GUncertain significance
Select item 376238	NM_001904.4(CTNNB1):c.118A>T (p.Thr40Ser)	CTNNB1, LOC126806658 (T40S +1 more)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376236	NM_001904.4(CTNNB1):c.118A>C (p.Thr40Pro)	LOC126806658, CTNNB1 (T40P +1 more)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376239	NM_001904.4(CTNNB1):c.119C>G (p.Thr40Ser)	LOC126806658, CTNNB1 (T40S +1 more)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 13652	NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	PIK3CA (H1047R)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 376254	NM_000222.3(KIT):c.154G>A (p.Asp52Asn)	KIT (D52N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376065	NM_181523.3(PIK3R1):c.1126G>C (p.Gly376Arg)	PIK3R1 (G376R +3 more)	Single nucleotide variant (missense variant)	Neoplasm +4 more	GLikely pathogenic
Select item 376064	NM_181523.3(PIK3R1):c.1126G>A (p.Gly376Arg)	PIK3R1 (G376R +3 more)	Single nucleotide variant (missense variant)	Neoplasm +1 more	GPathogenic/Likely pathogenic
Select item 376257	NM_181523.3(PIK3R1):c.1314AGA[1] (p.Glu439del)	PIK3R1 (E439del +3 more)	Microsatellite (inframe_deletion)	Neoplasm	GLikely pathogenic
Select item 376258	NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter)	PIK3R1 (R461* +3 more)	Single nucleotide variant (nonsense)	SHORT syndrome +2 more	GPathogenic/Likely pathogenic
Select item 376260	NM_181523.3(PIK3R1):c.1678_1695del (p.Asp560_Ser565del)	PIK3R1	Deletion (inframe_deletion)	Neoplasm	GLikely pathogenic
Select item 376259	NM_181523.3(PIK3R1):c.1678G>T (p.Asp560Tyr)	PIK3R1 (D560Y +3 more)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376261	NM_181523.3(PIK3R1):c.1690A>G (p.Asn564Asp)	PIK3R1 (N564D +3 more)	Single nucleotide variant (missense variant)	Vascular malformation	GPathogenic
Select item 376067	NM_181523.3(PIK3R1):c.1692C>G (p.Asn564Lys)	PIK3R1 (N564K +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GPathogenic
Select item 376066	NM_181523.3(PIK3R1):c.1692C>A (p.Asn564Lys)	PIK3R1 (N564K +3 more)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376262	NM_181523.3(PIK3R1):c.1727_1729del (p.Thr576del)	PIK3R1 (T576del +3 more)	Deletion (inframe_deletion)	Neoplasm	GLikely pathogenic
Select item 376263	NM_181523.3(PIK3R1):c.1748_1750delGGT	PIK3R1	Microsatellite (splice acceptor variant)	Neoplasm +1 more	GPathogenic/Likely pathogenic
Select item 376265	NM_000038.6(APC):c.3928_3947del (p.Glu1309_Lys1310insTer)	APC	Deletion (nonsense)	Neoplasm	GLikely pathogenic
Select item 376264	NM_000038.6(APC):c.3928_3938del (p.Glu1309_Lys1310insTer)	APC	Deletion (nonsense)	Neoplasm	GLikely pathogenic
Select item 376266	NM_000038.6(APC):c.4396_4400del (p.Ser1465_Gly1466insTer)	APC	Deletion (nonsense)	Neoplasm	GLikely pathogenic
Select item 376267	NM_000038.6(APC):c.4669_4676del (p.Thr1556_Ile1557insTer)	APC	Deletion (nonsense)	Neoplasm	GLikely pathogenic
Select item 376269	NM_001288705.3(CSF1R):c.2907T>A (p.Tyr969Ter)	CSF1R (Y969* +1 more)	Single nucleotide variant (nonsense +1 more)	Neoplasm	GLikely pathogenic
Select item 376268	NM_001288705.3(CSF1R):c.2907T>G (p.Tyr969Ter)	CSF1R (Y969* +1 more)	Single nucleotide variant (nonsense +1 more)	Neoplasm	GLikely pathogenic
Select item 376271	NM_001288705.3(CSF1R):c.2906A>G (p.Tyr969Cys)	CSF1R (Y969C +1 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm +1 more	GLikely pathogenic
Select item 376270	NM_001288705.3(CSF1R):c.2906A>T (p.Tyr969Phe)	CSF1R (Y969F +1 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm +1 more	GLikely pathogenic
Select item 376272	NM_001288705.3(CSF1R):c.2905T>C (p.Tyr969His)	CSF1R (Y969H +1 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm +1 more	GLikely pathogenic
Select item 376274	NM_001288705.3(CSF1R):c.902T>A (p.Leu301Ter)	CSF1R (L301* +1 more)	Single nucleotide variant (nonsense +1 more)	Neoplasm	GLikely pathogenic
Select item 376273	NM_001288705.3(CSF1R):c.902T>C (p.Leu301Ser)	CSF1R (L301S +1 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm +1 more	GLikely pathogenic
Select item 41623	NM_000245.4(MET):c.2908C>T (p.Arg970Cys)	MET (R988C +2 more)	Single nucleotide variant (missense variant)	Renal cell carcinoma +5 more	GConflicting classifications of pathogenicity
Select item 41624	NM_000245.4(MET):c.2975C>T (p.Thr992Ile)	MET (T1010I +2 more)	Single nucleotide variant (missense variant)	Classic Hodgkin lymphoma +7 more	GConflicting classifications of pathogenicity
Select item 186141	NM_000245.4(MET):c.3274G>A (p.Val1092Ile)	MET (V1110I +2 more)	Single nucleotide variant (missense variant)	Renal cell carcinoma +2 more	GPathogenic
Select item 13885	NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys)	MET (Y1248C +2 more)	Single nucleotide variant (missense variant)	Renal cell carcinoma +2 more	GConflicting classifications of pathogenicity
Select item 376200	NM_000245.4(MET):c.3703T>G (p.Tyr1235Asp)	MET (Y1253D +2 more)	Single nucleotide variant (missense variant)	Neoplasm +1 more	GLikely pathogenic
Select item 376202	NM_000245.4(MET):c.3750G>T (p.Met1250Ile)	MET (M1268I +2 more)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376201	NM_000245.4(MET):c.3750G>C (p.Met1250Ile)	MET (M1268I +2 more)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 13889	NM_000245.4(MET):c.3750G>A (p.Met1250Ile)	MET (M1268I +2 more)	Single nucleotide variant (missense variant)	Pediatric hepatocellular carcinoma +1 more	GPathogenic/Likely pathogenic
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 13961	NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)	BRAF (V600E +7 more)	Single nucleotide variant (missense variant)	Vascular malformation +4 more	GPathogenic/Likely pathogenic STier I - Strong
Select item 40388	NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile)	BRAF (T599I +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 13969	NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)	BRAF (L597V +7 more)	Single nucleotide variant (missense variant)	RASopathy +5 more	GPathogenic
Select item 177672	NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu)	BRAF (F595L +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 376291	NM_004333.6(BRAF):c.1776A>G (p.Ile592Met)	BRAF (I592M +7 more)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376293	NM_004333.6(BRAF):c.1761C>A (p.Asp587Glu)	BRAF (D587E +7 more)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376292	NM_004333.6(BRAF):c.1761C>G (p.Asp587Glu)	BRAF (D587E +7 more)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376294	NM_004333.6(BRAF):c.1760A>C (p.Asp587Ala)	BRAF (D587A +7 more)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 44812	NM_004333.6(BRAF):c.1756G>A (p.Glu586Lys)	BRAF (E586K +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 44803	NM_004333.6(BRAF):c.1406G>T (p.Gly469Val)	BRAF (G469V +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma	GPathogenic
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 40364	NM_004333.6(BRAF):c.1391G>T (p.Gly464Val)	BRAF (G464V +7 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 13964	NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu)	BRAF (G464E +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 376296	NM_023110.3(FGFR1):c.754C>A (p.Pro252Thr)	FGFR1 (P252T +5 more)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376297	NM_023110.3(FGFR1):c.374C>T (p.Ser125Leu)	FGFR1 (S125L +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 376298	NM_002467.6(MYC):c.169C>T (p.Pro57Ser)	MYC (P57S +1 more)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376299	NM_002467.6(MYC):c.176C>T (p.Ala59Val)	MYC (A59V +1 more)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376300	NM_002467.6(MYC):c.218C>T (p.Thr73Ile)	MYC (T73I +1 more)	Single nucleotide variant (missense variant)	Neoplasm +5 more	GLikely pathogenic
Select item 376301	NM_002467.6(MYC):c.230C>T (p.Ser77Phe)	MYC (S77F +1 more)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 12575	NM_002467.6(MYC):c.302A>C (p.Asn101Thr)	MYC (N101T +1 more)	Single nucleotide variant (missense variant)	Neoplasm +1 more	GPathogenic/Likely pathogenic
Select item 376302	NM_002467.6(MYC):c.778C>G (p.Pro260Ala)	MYC (P260A +1 more)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376303	NM_000077.5(CDKN2A):c.330G>A (p.Trp110Ter)	CDKN2A (G125R +2 more)	Single nucleotide variant (nonsense +2 more)	Familial melanoma +1 more	GPathogenic
Select item 376304	NM_000077.5(CDKN2A):c.329G>A (p.Trp110Ter)	CDKN2A (W110* +1 more)	Single nucleotide variant (nonsense +2 more)	Familial melanoma +1 more	GPathogenic
Select item 182423	NM_000077.5(CDKN2A):c.322G>T (p.Asp108Tyr)	CDKN2A (D108Y +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376305	NM_000077.5(CDKN2A):c.262G>T (p.Glu88Ter)	CDKN2A (E88* +2 more)	Single nucleotide variant (nonsense +2 more)	Familial melanoma +1 more	GPathogenic
Select item 376306	NM_000077.5(CDKN2A):c.250G>T (p.Asp84Tyr)	CDKN2A (D84Y +2 more)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +1 more	GConflicting classifications of pathogenicity
Select item 376307	NM_000077.5(CDKN2A):c.247C>T (p.His83Tyr)	CDKN2A (A97V +2 more)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +3 more	GConflicting classifications of pathogenicity
Select item 376308	NM_000077.5(CDKN2A):c.205G>T (p.Glu69Ter)	CDKN2A (E69* +2 more)	Single nucleotide variant (nonsense +2 more)	Neoplasm	GLikely pathogenic
Select item 376309	NM_000077.5(CDKN2A):c.181G>T (p.Glu61Ter)	CDKN2A (E61* +2 more)	Single nucleotide variant (nonsense +2 more)	Neoplasm	GLikely pathogenic
Select item 376310	NM_000077.5(CDKN2A):c.172C>T (p.Arg58Ter)	CDKN2A (P72L +2 more)	Single nucleotide variant (nonsense +2 more)	Familial melanoma +1 more	GPathogenic
Select item 13909	NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)	RET (C634Y +14 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 13931	NM_020975.6(RET):c.2304G>C (p.Glu768Asp)	RET (E768D +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 7829	NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)	PTEN (R130Q +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 184844	NM_000314.8(PTEN):c.700C>T (p.Arg234Trp)	PTEN (R234W +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 376321	NM_005343.4(HRAS):c.182_183delinsGA (p.Gln61Arg)	HRAS, LRRC56 (Q61R)	Indel (missense variant +1 more)	Neoplasm	GLikely pathogenic
Select item 376320	NM_005343.4(HRAS):c.182_183delinsGT (p.Gln61Arg)	HRAS, LRRC56 (Q61R)	Indel (missense variant +1 more)	Neoplasm	GLikely pathogenic
Select item 376319	NM_005343.4(HRAS):c.183G>C (p.Gln61His)	LRRC56, HRAS (Q61H)	Single nucleotide variant (missense variant +1 more)	Neoplasm	GLikely pathogenic
Select item 376318	NM_005343.4(HRAS):c.183G>T (p.Gln61His)	HRAS, LRRC56 (Q61H)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 3	GLikely pathogenic
Select item 376322	NM_005343.4(HRAS):c.182A>C (p.Gln61Pro)	HRAS, LRRC56 (Q61P)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +13 more	GLikely pathogenic
Select item 160364	NM_005343.4(HRAS):c.182A>G (p.Gln61Arg)	LRRC56, HRAS (Q61R)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome +1 more	GLikely pathogenic
Select item 376323	NM_005343.4(HRAS):c.37G>A (p.Gly13Ser)	HRAS, LRRC56 (G13S)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GLikely pathogenic
Select item 12606	NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)	HRAS, LRRC56 (G13C)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 376190	NM_001982.4(ERBB3):c.785C>A (p.Pro262His)	ERBB3 (P262H)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376191	NM_001982.4(ERBB3):c.2426A>G (p.Gln809Arg)	ERBB3 (Q809R)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 126810	NM_000321.3(RB1):c.409G>T (p.Glu137Ter)	RB1 (E137*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 13090	NM_000321.3(RB1):c.1666C>T (p.Arg556Ter)	RB1 (R556*)	Single nucleotide variant (nonsense)	Retinoblastoma +1 more	GPathogenic
Select item 13078	NM_000321.3(RB1):c.2242G>T (p.Glu748Ter)	RB1 (E748*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 376192	NM_002755.4(MAP2K1):c.296T>C (p.Ile99Thr)	MAP2K1 (I99T)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376193	NM_002755.4(MAP2K1):c.308T>A (p.Ile103Asn)	MAP2K1 (I103N)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376194	NM_002755.4(MAP2K1):c.332T>A (p.Ile111Asn)	MAP2K1 (I111N)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic
Select item 376195	NM_002755.4(MAP2K1):c.356A>C (p.His119Pro)	MAP2K1 (H119P)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376197	NM_002755.4(MAP2K1):c.360G>T (p.Glu120Asp)	MAP2K1 (E120D)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376196	NM_002755.4(MAP2K1):c.360G>C (p.Glu120Asp)	MAP2K1 (E120D)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376198	NM_002755.4(MAP2K1):c.632T>A (p.Val211Asp)	MAP2K1 (V211D)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 376199	NM_002755.4(MAP2K1):c.644T>C (p.Leu215Pro)	MAP2K1 (L215P)	Single nucleotide variant (missense variant)	Neoplasm	GLikely pathogenic
Select item 12366	NM_000546.6(TP53):c.818G>A (p.Arg273His)	TP53 (R273H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 43594	NM_000546.6(TP53):c.817C>T (p.Arg273Cys)	TP53 (R141C +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 12356	NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	TP53 (R248Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 12347	NM_000546.6(TP53):c.742C>T (p.Arg248Trp)	TP53 (R248W +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic 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 12374	NM_000546.6(TP53):c.524G>A (p.Arg175His)	TP53 (R175H +3 more)	Single nucleotide variant (missense variant)	not provided +15 more	GPathogenic

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