ClinVar for MedGen (Select 9730) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3257753	NM_000546.6(TP53):c.373_375+1delinsCCTT	TP53 (T125P +1 more)	Single nucleotide variant (synonymous variant +2 more)	Neoplasm	OLikely oncogenic
Select item 3241687	NM_032638.5(GATA2):c.1267_1269del (p.Glu423del)	GATA2 (E409del +1 more)	Deletion (inframe_deletion)	Acute myeloid leukemia	GUncertain significance
Select item 3241686	NM_032638.5(GATA2):c.773A>G (p.His258Arg)	GATA2 (H258R)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 3241685	NM_032638.5(GATA2):c.482C>T (p.Pro161Leu)	GATA2 (P161L)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 3241684	NM_032638.5(GATA2):c.16G>C (p.Glu6Gln)	GATA2 (E6Q)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 3241683	NM_032638.5(GATA2):c.56C>T (p.Ala19Val)	GATA2 (A19V)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 3241681	NM_032638.5(GATA2):c.299G>T (p.Gly100Val)	GATA2 (G100V)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 3241680	NM_032638.5(GATA2):c.745T>C (p.Tyr249His)	GATA2 (Y249H)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 3241679	NM_032638.5(GATA2):c.821C>T (p.Pro274Leu)	GATA2 (P274L)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 3241082	NM_004364.5(CEBPA):c.575_616del (p.Pro192_His205del)	CEBPA	Deletion (inframe_deletion)	Acute myeloid leukemia	GUncertain significance
Select item 3241080	NM_004364.5(CEBPA):c.452_468delinsAT (p.Gly151_Arg156delinsAsp)	CEBPA	Indel (inframe_indel)	Acute myeloid leukemia	GUncertain significance
Select item 3241079	NM_004364.5(CEBPA):c.574_575insTGCACC (p.His191_Pro192insLeuHis)	CEBPA	Insertion (inframe_insertion)	Acute myeloid leukemia	GUncertain significance
Select item 3241078	NM_004364.5(CEBPA):c.793G>T (p.Ala265Ser)	CEBPA (A146S +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 3241077	NM_004364.5(CEBPA):c.493C>G (p.Arg165Gly)	CEBPA (R151G +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 3241076	NM_004364.5(CEBPA):c.290C>G (p.Pro97Arg)	CEBPA (P132R +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 3241075	NM_004364.5(CEBPA):c.957T>G (p.Ser319Arg)	CEBPA (S200R +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 3240393	NM_001754.5(RUNX1):c.1193C>G (p.Ala398Gly)	RUNX1 (A371G +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 3240392	NM_001754.5(RUNX1):c.382A>T (p.Thr128Ser)	RUNX1, RUNX1-AS1 (T101S +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 3240390	NM_001754.5(RUNX1):c.777_778dup (p.Asn260fs)	RUNX1 (N233fs +1 more)	Duplication (frameshift variant)	Acute myeloid leukemia	GLikely pathogenic
Select item 3240389	NM_001754.5(RUNX1):c.76A>C (p.Asn26His)	RUNX1 (N26H)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 3240388	NM_001754.5(RUNX1):c.1237T>G (p.Ser413Ala)	RUNX1 (S386A +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 3240387	NM_001754.5(RUNX1):c.1100G>A (p.Gly367Asp)	RUNX1 (G340D +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 3064948	NM_004364.5(CEBPA):c.921_938del (p.Asn307_Gln312del)	CEBPA	Deletion (inframe_deletion)	Acute myeloid leukemia	GUncertain significance
Select item 3064947	NM_004364.5(CEBPA):c.103del (p.Arg35fs)	CEBPA (R21fs +2 more)	Deletion (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 3024186	NM_024426.6(WT1):c.1400G>T (p.Arg467Leu)	WT1 (R213L +11 more)	Single nucleotide variant (missense variant +2 more)	Acute myeloid leukemia	STier I - Strong
Select item 3019681	NM_004364.5(CEBPA):c.967C>T (p.Arg323Cys)	CEBPA (R358C +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 3018210	NM_004364.5(CEBPA):c.446G>A (p.Arg149His)	CEBPA (R135H +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 3016387	NM_004364.5(CEBPA):c.972G>C (p.Leu324=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 3015799	NM_004364.5(CEBPA):c.668G>C (p.Gly223Ala)	CEBPA (G223A +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 3010832	NM_004364.5(CEBPA):c.817A>G (p.Lys273Glu)	CEBPA (K154E +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 3002601	NM_004364.5(CEBPA):c.371C>T (p.Ala124Val)	CEBPA (A5V +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 3000853	NM_004364.5(CEBPA):c.8C>T (p.Ser3Leu)	CEBPA, LOC130064183 (S38L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 2997484	NM_004364.5(CEBPA):c.607_608delinsTT (p.Ala203Phe)	CEBPA (A238F +3 more)	Indel (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2995612	NM_004364.5(CEBPA):c.849C>G (p.Asn283Lys)	CEBPA (N318K +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2991945	NM_004364.5(CEBPA):c.205G>C (p.Asp69His)	CEBPA (D69H +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 2989768	NM_004364.5(CEBPA):c.551C>T (p.Pro184Leu)	CEBPA (P184L +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2973022	NM_004364.5(CEBPA):c.591G>T (p.Pro197=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 2963891	NM_004364.5(CEBPA):c.815G>C (p.Gly272Ala)	CEBPA (G258A +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2963625	NM_004364.5(CEBPA):c.582G>T (p.Pro194=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 2958626	NM_004364.5(CEBPA):c.395G>A (p.Gly132Asp)	CEBPA (G13D +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2929450	NM_032638.5(GATA2):c.509T>C (p.Leu170Pro)	GATA2 (L170P)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +2 more	GUncertain significance
Select item 2919945	NM_004364.5(CEBPA):c.508G>A (p.Ala170Thr)	CEBPA (A170T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2916816	NM_004364.5(CEBPA):c.1000G>T (p.Glu334Ter)	CEBPA (E334* +3 more)	Single nucleotide variant (nonsense)	Acute myeloid leukemia	GUncertain significance
Select item 2915953	NM_004364.5(CEBPA):c.1070G>A (p.Cys357Tyr)	CEBPA (C357Y +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2914505	NM_004364.5(CEBPA):c.831G>A (p.Ser277=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 2912078	NM_004364.5(CEBPA):c.361C>A (p.Pro121Thr)	CEBPA (P107T +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2911918	NM_004364.5(CEBPA):c.312C>T (p.Gly104=)	CEBPA	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GLikely benign
Select item 2911843	NM_004364.5(CEBPA):c.62G>A (p.Ser21Asn)	CEBPA (S56N +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 2904684	NM_004364.5(CEBPA):c.622T>G (p.Phe208Val)	CEBPA (F194V +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2896915	NM_004364.5(CEBPA):c.717C>A (p.Pro239=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 2896780	NM_004364.5(CEBPA):c.278C>T (p.Ala93Val)	CEBPA (A79V +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 2895497	NM_004364.5(CEBPA):c.736C>T (p.Leu246=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 2886106	NM_004364.5(CEBPA):c.827A>C (p.Lys276Thr)	CEBPA (K276T +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2884141	NM_004364.5(CEBPA):c.362C>T (p.Pro121Leu)	CEBPA (P121L +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2882903	NM_004364.5(CEBPA):c.110C>T (p.Ala37Val)	CEBPA (A37V +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 2873847	NM_004364.5(CEBPA):c.1069T>A (p.Cys357Ser)	CEBPA (C343S +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2873016	NM_004364.5(CEBPA):c.697C>G (p.Pro233Ala)	CEBPA (P233A +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2872642	NM_004364.5(CEBPA):c.438G>C (p.Leu146=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 2863369	NM_004364.5(CEBPA):c.228G>C (p.Glu76Asp)	CEBPA (E76D +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia +1 more	GUncertain significance
Select item 2862743	NM_004364.5(CEBPA):c.1035G>T (p.Leu345=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GUncertain significance
Select item 2861070	NM_004364.5(CEBPA):c.171G>T (p.Glu57Asp)	CEBPA (E43D +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 2860572	NM_004364.5(CEBPA):c.588G>C (p.Pro196=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GUncertain significance
Select item 2859306	NM_004364.5(CEBPA):c.346G>A (p.Gly116Ser)	CEBPA (G102S +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 2858389	NM_004364.5(CEBPA):c.146C>G (p.Pro49Arg)	CEBPA (P49R +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 2856733	NM_004364.5(CEBPA):c.713C>G (p.Ala238Gly)	CEBPA (A119G +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2855575	NM_004364.5(CEBPA):c.584A>C (p.His195Pro)	CEBPA (H181P +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2851932	NM_004364.5(CEBPA):c.267G>T (p.Glu89Asp)	CEBPA (E75D +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 2851337	NM_004364.5(CEBPA):c.44T>A (p.Met15Lys)	CEBPA, LOC130064183 (M15K +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Acute myeloid leukemia	GUncertain significance
Select item 2850044	NM_004364.5(CEBPA):c.179dup (p.Ser61fs)	CEBPA (S96fs +2 more)	Duplication (5 prime UTR variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 2849796	NM_004364.5(CEBPA):c.403G>C (p.Ala135Pro)	CEBPA (A16P +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2841236	NM_004364.5(CEBPA):c.916C>A (p.Arg306Ser)	CEBPA (R292S +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2835999	NM_004364.5(CEBPA):c.844A>C (p.Ser282Arg)	CEBPA (S163R +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2835997	NM_004364.5(CEBPA):c.925G>C (p.Glu309Gln)	CEBPA (E295Q +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2835880	NM_004364.5(CEBPA):c.156G>T (p.Leu52=)	CEBPA	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 2833882	NM_004364.5(CEBPA):c.913C>T (p.Gln305Ter)	CEBPA (Q291* +3 more)	Single nucleotide variant (nonsense)	Acute myeloid leukemia	GUncertain significance
Select item 2833375	NM_004364.5(CEBPA):c.1074G>A (p.Ala358=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GUncertain significance
Select item 2831827	NM_004364.5(CEBPA):c.543C>G (p.Tyr181Ter)	CEBPA (Y167* +3 more)	Single nucleotide variant (nonsense)	Acute myeloid leukemia	GUncertain significance
Select item 2831747	NM_004364.5(CEBPA):c.698C>G (p.Pro233Arg)	CEBPA (P233R +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2831023	NM_004364.5(CEBPA):c.299G>A (p.Gly100Asp)	CEBPA (G86D +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 2828773	NM_004364.5(CEBPA):c.700A>G (p.Ser234Gly)	CEBPA (S220G +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2828028	NM_004364.5(CEBPA):c.212C>T (p.Ala71Val)	CEBPA (A71V +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 2819420	NM_004364.5(CEBPA):c.606C>T (p.Ala202=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GUncertain significance
Select item 2816374	NM_004364.5(CEBPA):c.943C>T (p.Leu315=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GUncertain significance
Select item 2814672	NM_004364.5(CEBPA):c.376G>A (p.Gly126Arg)	CEBPA (G126R +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2813551	NM_004364.5(CEBPA):c.808G>A (p.Gly270Ser)	CEBPA (G270S +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2811878	NM_004364.5(CEBPA):c.918C>G (p.Arg306=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GUncertain significance
Select item 2808706	NM_004364.5(CEBPA):c.489G>T (p.Glu163Asp)	CEBPA (E44D +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2804918	NM_004364.5(CEBPA):c.96C>A (p.Gly32=)	CEBPA	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 2804917	NM_004364.5(CEBPA):c.270G>T (p.Lys90Asn)	CEBPA (K76N +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 2801258	NM_004364.5(CEBPA):c.934C>T (p.Gln312Ter)	CEBPA (Q193* +3 more)	Single nucleotide variant (nonsense)	Acute myeloid leukemia	GUncertain significance
Select item 2800985	NM_004364.5(CEBPA):c.672C>G (p.His224Gln)	CEBPA (H259Q +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2795322	NM_004364.5(CEBPA):c.411C>T (p.Gly137=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 2793643	NM_004364.5(CEBPA):c.611C>G (p.Pro204Arg)	CEBPA (P190R +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2789795	NM_004364.5(CEBPA):c.847A>C (p.Asn283His)	CEBPA (N164H +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2789299	NM_004364.5(CEBPA):c.371C>A (p.Ala124Glu)	CEBPA (A124E +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2787460	NM_004364.5(CEBPA):c.841A>G (p.Asn281Asp)	CEBPA (N162D +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2781427	NM_004364.5(CEBPA):c.502G>A (p.Asp168Asn)	CEBPA (D154N +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2770051	NM_004364.5(CEBPA):c.192C>T (p.Ile64=)	CEBPA	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 2768993	NM_004364.5(CEBPA):c.946G>C (p.Glu316Gln)	CEBPA (E197Q +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2768835	NM_004364.5(CEBPA):c.41C>T (p.Pro14Leu)	CEBPA, LOC130064183 (P49L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance

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