C0023467[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 208339	NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile)	CSF3R (T618I)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 376030	NM_002227.4(JAK1):c.1972G>T (p.Val658Phe)	LOC126805749, JAK1 (V658F +1 more)	Single nucleotide variant (missense variant)	Acquired polycythemia vera +3 more	GLikely pathogenic
Select item 375871	NM_002524.5(NRAS):c.183A>C (p.Gln61His)	NRAS (Q61H)	Single nucleotide variant (missense variant)	Melanoma +2 more	GPathogenic/Likely pathogenic
Select item 373003	NM_002524.5(NRAS):c.183A>T (p.Gln61His)	NRAS (Q61H)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +1 more	GConflicting classifications of pathogenicity
Select item 375874	NM_002524.5(NRAS):c.182A>T (p.Gln61Leu)	NRAS (Q61L)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 280409	NM_002524.5(NRAS):c.182A>C (p.Gln61Pro)	NRAS (Q61P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 13900	NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)	NRAS (Q61R)	Single nucleotide variant (missense variant)	Large congenital melanocytic nevus +3 more	GConflicting classifications of pathogenicity
Select item 73058	NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)	NRAS (Q61K)	Single nucleotide variant (missense variant)	Large congenital melanocytic nevus +2 more	GConflicting classifications of pathogenicity
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 13901	NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)	NRAS (G13D)	Single nucleotide variant (missense variant)	Acute megakaryoblastic leukemia in down syndrome +2 more	GPathogenic/Likely pathogenic
Select item 13899	NM_002524.5(NRAS):c.37G>C (p.Gly13Arg)	NRAS (G13R)	Single nucleotide variant (missense variant)	Noonan syndrome 6	GLikely pathogenic
Select item 219097	NM_002524.5(NRAS):c.35G>C (p.Gly12Ala)	NRAS (G12A)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +3 more	GPathogenic/Likely pathogenic
Select item 40470	NM_002524.5(NRAS):c.35G>T (p.Gly12Val)	NRAS (G12V)	Single nucleotide variant (missense variant)	RASopathy +2 more	GPathogenic/Likely pathogenic
Select item 39648	NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)	NRAS (G12D)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 177778	NM_002524.5(NRAS):c.34G>A (p.Gly12Ser)	NRAS (G12S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 40469	NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)	NRAS (G12R)	Single nucleotide variant (missense variant)	Noonan syndrome 6 +2 more	GPathogenic
Select item 40468	NM_002524.5(NRAS):c.34G>T (p.Gly12Cys)	NRAS (G12C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 375881	NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His)	DNMT3A (R693H +3 more)	Single nucleotide variant (missense variant +1 more)	Abnormality of the nervous system +6 more	GConflicting classifications of pathogenicity STier II - Potential
Select item 375880	NM_022552.5(DNMT3A):c.2645G>C (p.Arg882Pro)	DNMT3A (R693P +3 more)	Single nucleotide variant (missense variant +1 more)	Myelodysplastic syndrome +2 more	GPathogenic/Likely pathogenic
Select item 375879	NM_022552.5(DNMT3A):c.2645G>T (p.Arg882Leu)	DNMT3A (R693L +3 more)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 375884	NM_022552.5(DNMT3A):c.2644C>A (p.Arg882Ser)	DNMT3A (R693S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 375883	NM_022552.5(DNMT3A):c.2644C>G (p.Arg882Gly)	DNMT3A (R693G +3 more)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 375882	NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys)	DNMT3A (R693C +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome +4 more	GPathogenic
Select item 376041	NM_012433.4(SF3B1):c.2100A>C (p.Lys700Asn)	SF3B1 (K700N)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GLikely pathogenic
Select item 376040	NM_012433.4(SF3B1):c.2100A>T (p.Lys700Asn)	SF3B1 (K700N)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GLikely pathogenic
Select item 376044	NM_012433.4(SF3B1):c.2099A>C (p.Lys700Thr)	SF3B1 (K700T)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GLikely pathogenic
Select item 376043	NM_012433.4(SF3B1):c.2099A>G (p.Lys700Arg)	SF3B1 (K700R)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GLikely pathogenic
Select item 376042	NM_012433.4(SF3B1):c.2099A>T (p.Lys700Ile)	SF3B1 (K700I)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GLikely pathogenic
Select item 376046	NM_012433.4(SF3B1):c.2098A>C (p.Lys700Gln)	SF3B1 (K700Q)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GLikely pathogenic
Select item 376045	NM_012433.4(SF3B1):c.2098A>T (p.Lys700Ter)	SF3B1 (K700*)	Single nucleotide variant (nonsense)	Acute myeloid leukemia	GLikely pathogenic
Select item 376004	NM_012433.4(SF3B1):c.2098A>G (p.Lys700Glu)	SF3B1 (K700E)	Single nucleotide variant (missense variant)	SF3B1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 376005	NM_012433.4(SF3B1):c.1998G>C (p.Lys666Asn)	SF3B1 (K666N)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GPathogenic/Likely pathogenic
Select item 219098	NM_012433.4(SF3B1):c.1998G>T (p.Lys666Asn)	SF3B1 (K666N)	Single nucleotide variant (missense variant)	Myelodysplastic syndrome progressed to acute myeloid leukemia +1 more	GPathogenic/Likely pathogenic
Select item 376007	NM_012433.4(SF3B1):c.1997A>C (p.Lys666Thr)	SF3B1 (K666T)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GLikely pathogenic
Select item 376006	NM_012433.4(SF3B1):c.1997A>G (p.Lys666Arg)	SF3B1 (K666R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 376008	NM_012433.4(SF3B1):c.1996A>G (p.Lys666Glu)	SF3B1 (K666E)	Single nucleotide variant (missense variant)	Breast neoplasm +4 more	GLikely pathogenic
Select item 375890	NM_005896.4(IDH1):c.395G>C (p.Arg132Pro)	IDH1 (R132P)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GPathogenic
Select item 375889	NM_005896.4(IDH1):c.395G>T (p.Arg132Leu)	IDH1 (R132L)	Single nucleotide variant (missense variant)	Adenoid cystic carcinoma +14 more	GPathogenic/Likely pathogenic
Select item 156444	NM_005896.4(IDH1):c.395G>A (p.Arg132His)	IDH1 (R132H)	Single nucleotide variant (missense variant)	Metaphyseal chondromatosis +3 more	GPathogenic/Likely pathogenic
Select item 375893	NM_005896.4(IDH1):c.394C>A (p.Arg132Ser)	IDH1 (R132S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 375892	NM_005896.4(IDH1):c.394C>G (p.Arg132Gly)	IDH1 (R132G)	Single nucleotide variant (missense variant)	Adenoid cystic carcinoma +14 more	GPathogenic/Likely pathogenic
Select item 375891	NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)	IDH1 (R132C)	Single nucleotide variant (missense variant)	Maffucci syndrome +4 more	GPathogenic/Likely pathogenic
Select item 29709	NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp)	GATA2 (R398W +1 more)	Single nucleotide variant (missense variant)	Leukemia, acute myeloid, susceptibility to +5 more	GPathogenic
Select item 29711	NM_032638.5(GATA2):c.1061C>T (p.Thr354Met)	GATA2 (T354M +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +3 more	GPathogenic
Select item 375926	NM_000222.3(KIT):c.2446_2447delinsAT (p.Asp816Ile)	KIT (D812I +5 more)	Indel (missense variant)	Acute myeloid leukemia	GPathogenic
Select item 13860	NM_000222.3(KIT):c.2446G>T (p.Asp816Tyr)	KIT (D816Y +5 more)	Single nucleotide variant (missense variant)	Melanoma +4 more	GPathogenic/Likely pathogenic
Select item 13852	NM_000222.3(KIT):c.2447A>T (p.Asp816Val)	KIT (D816V +5 more)	Single nucleotide variant (missense variant)	Cutaneous mastocytosis +3 more	GConflicting classifications of pathogenicity
Select item 375932	NM_000222.3(KIT):c.2466T>G (p.Asn822Lys)	KIT (N822K +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 375931	NM_000222.3(KIT):c.2466T>A (p.Asn822Lys)	KIT (N822K +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 376012	NM_002520.7(NPM1):c.862_863insTCTG (p.Trp288fs)	NPM1 (W288fs +3 more)	Insertion (frameshift variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376011	NM_002520.7(NPM1):c.862_863insTCAG (p.Trp288fs)	NPM1 (W288fs +3 more)	Insertion (frameshift variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376010	NM_002520.7(NPM1):c.862_863insCCTG (p.Trp288fs)	NPM1 (W259fs +3 more)	Insertion (frameshift variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376009	NM_002520.7(NPM1):c.862_863insCATG (p.Trp288fs)	NPM1 (W259fs +3 more)	Insertion (frameshift variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 14662	NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	INSL6, JAK2 (V617F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 376738	NM_000459.5(TEK):c.2228G>C (p.Gly743Ala)	TEK (G743A +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 12611	NM_005343.4(HRAS):c.437C>T (p.Ala146Val)	HRAS, LRRC56 (A146V +1 more)	Single nucleotide variant (missense variant)	Costello syndrome	GLikely pathogenic
Select item 376442	NM_005343.4(HRAS):c.436G>C (p.Ala146Pro)	HRAS, LRRC56 (A146P)	Single nucleotide variant (missense variant +1 more)	Multiple myeloma +5 more	GLikely pathogenic
Select item 12607	NM_005343.4(HRAS):c.436G>A (p.Ala146Thr)	HRAS, LRRC56 (A146T)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +6 more	GPathogenic/Likely 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 376033	NM_005343.4(HRAS):c.182A>T (p.Gln61Leu)	HRAS, LRRC56 (Q61L)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 376444	NM_005343.4(HRAS):c.181C>G (p.Gln61Glu)	HRAS, LRRC56 (Q61E)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +12 more	GLikely pathogenic
Select item 376443	NM_005343.4(HRAS):c.38G>C (p.Gly13Ala)	HRAS, LRRC56 (G13A)	Single nucleotide variant (missense variant +1 more)	Neoplasm of uterine cervix +9 more	GLikely pathogenic
Select item 180848	NM_005343.4(HRAS):c.38G>T (p.Gly13Val)	HRAS, LRRC56 (G13V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 35554	NM_005343.4(HRAS):c.37G>C (p.Gly13Arg)	HRAS, LRRC56 (G13R)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome +3 more	GPathogenic/Likely 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 12603	NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)	HRAS, LRRC56 (G12A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +8 more	GPathogenic
Select item 12613	NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)	HRAS, LRRC56 (G12C)	Single nucleotide variant (missense variant +1 more)	Epidermal nevus +6 more	GPathogenic
Select item 12602	NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)	HRAS, LRRC56 (G12S)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GPathogenic FDA Recognized database
Select item 376013	NM_024426.6(WT1):c.1157_1158insTGTACGGT (p.Ala387fs)	WT1 (A153fs +3 more)	Insertion (frameshift variant +2 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376533	NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly)	SF3B2 (E700G)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma +6 more	GLikely pathogenic
Select item 177881	NM_004985.5(KRAS):c.183A>C (p.Gln61His)	KRAS (Q61H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 45117	NM_004985.5(KRAS):c.183A>T (p.Gln61His)	KRAS (Q61H)	Single nucleotide variant (missense variant)	Transitional cell carcinoma of the bladder +14 more	GPathogenic/Likely pathogenic
Select item 12580	NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)	KRAS (G13D)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 12583	NM_004985.5(KRAS):c.35G>T (p.Gly12Val)	KRAS (G12V)	Single nucleotide variant (missense variant)	RASopathy +4 more	GPathogenic
Select item 12582	NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)	KRAS (G12D)	Single nucleotide variant (missense variant)	RASopathy +4 more	GPathogenic/Likely pathogenic
Select item 177754	NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr)	PTPN11 (A72T +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +5 more	GPathogenic/Likely pathogenic
Select item 376511	NM_002834.5(PTPN11):c.215C>A (p.Ala72Asp)	PTPN11 (A72D +1 more)	Single nucleotide variant (missense variant)	Neoplasm of brain +3 more	GLikely pathogenic
Select item 41443	NM_002834.5(PTPN11):c.215C>T (p.Ala72Val)	PTPN11 (A72V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 376102	NM_004119.3(FLT3):c.2525A>G (p.Tyr842Cys)	FLT3 (Y842C)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376103	NM_004119.3(FLT3):c.2524T>C (p.Tyr842His)	FLT3 (Y842H)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376718	NM_004119.3(FLT3):c.2523C>A (p.Asn841Lys)	FLT3 (N841K)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376723	NM_004119.3(FLT3):c.2521A>C (p.Asn841His)	FLT3 (N841H)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376014	NM_004119.3(FLT3):c.2516A>G (p.Asp839Gly)	FLT3 (D839G)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376326	NM_004119.3(FLT3):c.2508_2510del (p.Ile836del)	FLT3 (I836del)	Deletion (inframe_deletion +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 375969	NM_004119.3(FLT3):c.2508C>G (p.Ile836Met)	FLT3 (I836M)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 376717	NM_004119.3(FLT3):c.2507T>G (p.Ile836Ser)	FLT3 (I836S)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376722	NM_004119.3(FLT3):c.2506A>T (p.Ile836Phe)	FLT3 (I836F)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376720	NM_004119.3(FLT3):c.2506A>G (p.Ile836Val)	FLT3 (I836V)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 375970	NM_004119.3(FLT3):c.2506A>C (p.Ile836Leu)	FLT3 (I836L)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 375972	NM_004119.3(FLT3):c.2505T>A (p.Asp835Glu)	FLT3 (D835E)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 375971	NM_004119.3(FLT3):c.2505T>G (p.Asp835Glu)	FLT3 (D835E)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 16277	NM_004119.3(FLT3):c.2503_2505del (p.Asp835del)	FLT3 (D835del)	Deletion (inframe_deletion +1 more)	Acute myeloid leukemia	GPathogenic/Likely pathogenic
Select item 376104	NM_004119.3(FLT3):c.2503_2504delinsTT (p.Asp835Phe)	FLT3 (D835F)	Indel (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 375973	NM_004119.3(FLT3):c.2504A>C (p.Asp835Ala)	FLT3 (D835A)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 16272	NM_004119.3(FLT3):c.2504A>T (p.Asp835Val)	FLT3 (D835V)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia +1 more	GPathogenic
Select item 16276	NM_004119.3(FLT3):c.2503G>T (p.Asp835Tyr)	FLT3 (D835Y)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia +1 more	GPathogenic
Select item 16274	NM_004119.3(FLT3):c.2503G>A (p.Asp835Asn)	FLT3 (D835N)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 16273	NM_004119.3(FLT3):c.2503G>C (p.Asp835His)	FLT3 (D835H)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 376106	NM_004119.3(FLT3):c.2073T>A (p.Phe691Leu)	FLT3 (F691L)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376105	NM_004119.3(FLT3):c.2073T>G (p.Phe691Leu)	FLT3 (F691L)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic

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