ClinVar for MedGen (Select 483005) - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3589731	NM_001127208.3(TET2):c.4138C>T (p.His1380Tyr)	TET2, TET2-AS1 (H1380Y)	Single nucleotide variant (missense variant)	Myelodysplastic syndrome +2 more	GUncertain significance
Select item 3589730	NM_001127208.3(TET2):c.797del (p.His266fs)	TET2, TET2-AS1 (H266fs)	Deletion (frameshift variant)	Myelodysplastic syndrome +1 more	GLikely pathogenic
Select item 3588362	NM_032638.5(GATA2):c.345del (p.Trp116fs)	GATA2 (W116fs)	Deletion (frameshift variant)	Acute myeloid leukemia +3 more	GLikely pathogenic
Select item 3588361	NM_032638.5(GATA2):c.959G>A (p.Gly320Asp)	GATA2 (G320D)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +3 more	GUncertain significance
Select item 3241686	NM_032638.5(GATA2):c.773A>G (p.His258Arg)	GATA2 (H258R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 3024332	NM_002074.5(GNB1):c.814G>A (p.Gly272Arg)	GNB1 (G172R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42 +3 more	GConflicting classifications of pathogenicity
Select item 3024329	NM_015338.6(ASXL1):c.3747_3748del (p.Met1249fs)	ASXL1 (M1188fs +1 more)	Deletion (frameshift variant)	Bohring-Opitz syndrome +1 more	GLikely pathogenic
Select item 2690920	NM_032638.5(GATA2):c.1341C>G (p.Ser447Arg)	GATA2 (S433R +1 more)	Single nucleotide variant (missense variant)	Myelodysplastic syndrome	GLikely pathogenic
Select item 2681600	NM_001127208.3(TET2):c.2746C>T (p.Gln916Ter)	TET2, TET2-AS1 (Q916*)	Single nucleotide variant (nonsense)	Myelodysplastic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2681590	NM_001127208.3(TET2):c.3955-2A>G	TET2, TET2-AS1	Single nucleotide variant (splice acceptor variant)	Myelodysplastic syndrome +1 more	GLikely pathogenic
Select item 2637898	NM_001127208.3(TET2):c.2196del (p.Ser733fs)	TET2, TET2-AS1 (S733fs)	Deletion (frameshift variant)	Myelodysplastic syndrome	GUncertain significance
Select item 2500300	NM_032638.5(GATA2):c.1080G>A (p.Trp360Ter)	GATA2 (W346* +1 more)	Single nucleotide variant (nonsense)	Myelodysplastic syndrome	GLikely pathogenic
Select item 2065663	NM_002074.5(GNB1):c.169A>G (p.Lys57Glu)	GNB1 (K57E)	Single nucleotide variant (missense variant +1 more)	Acute lymphoid leukemia +3 more	GUncertain significance
Select item 1940986	NM_015338.6(ASXL1):c.550G>A (p.Val184Met)	ASXL1 (V184M +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome +2 more	GUncertain significance
Select item 1810131	NM_032638.5(GATA2):c.175T>A (p.Tyr59Asn)	GATA2 (Y59N)	Single nucleotide variant (missense variant)	Myelodysplastic syndrome +1 more	GUncertain significance
Select item 1727220	NM_017654.4(SAMD9):c.4460A>G (p.Lys1487Arg)	SAMD9 (K1487R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1708120	NM_012433.4(SF3B1):c.207C>G (p.Asp69Glu)	SF3B1 (D69E)	Single nucleotide variant (missense variant)	Myelodysplastic syndrome	GUncertain significance
Select item 1705316	NM_015338.6(ASXL1):c.2068_2069del (p.Asp690fs)	ASXL1 (D629fs +1 more)	Deletion (frameshift variant)	Myelodysplastic syndrome	GLikely pathogenic
Select item 1698850	NM_016222.4(DDX41):c.1621+5G>T	DDX41	Single nucleotide variant (intron variant)	Myelodysplastic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1686651	NM_001127208.3(TET2):c.3804-2A>C	TET2, TET2-AS1	Single nucleotide variant (splice acceptor variant)	Myelodysplastic syndrome	GLikely pathogenic
Select item 1686257	NM_001127208.3(TET2):c.2029_2032del (p.Cys677fs)	TET2, TET2-AS1 (C677fs)	Microsatellite (frameshift variant)	Myelodysplastic syndrome	GPathogenic
Select item 1675100	NM_015338.6(ASXL1):c.3302T>A (p.Val1101Glu)	ASXL1 (V1040E +1 more)	Single nucleotide variant (missense variant)	Bohring-Opitz syndrome +1 more	GUncertain significance
Select item 1667729	NM_015338.6(ASXL1):c.3621C>G (p.Val1207=)	ASXL1	Single nucleotide variant (synonymous variant)	Bohring-Opitz syndrome +3 more	GLikely benign
Select item 1562666	NM_002074.5(GNB1):c.402C>T (p.Arg134=)	GNB1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1184011	NM_032638.5(GATA2):c.1168A>G (p.Lys390Glu)	GATA2 (K376E +1 more)	Single nucleotide variant (missense variant)	GATA2 deficiency with susceptibility to MDS/AML +4 more	GConflicting classifications of pathogenicity
Select item 1168641	NM_015338.6(ASXL1):c.57+19G>A	ASXL1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1055734	NM_032638.5(GATA2):c.129C>G (p.Asp43Glu)	GATA2 (D43E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1051776	NM_032638.5(GATA2):c.479C>G (p.Thr160Ser)	GATA2 (T160S)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +3 more	GUncertain significance
Select item 998245	NM_001127208.3(TET2):c.1268A>G (p.Lys423Arg)	TET2, TET2-AS1 (K423R)	Single nucleotide variant (missense variant)	Myelodysplastic syndrome +1 more	GUncertain significance
Select item 975812	NC_000003.11:g.(128203154_128202733)_(128202028_128201205)del	GATA2	Deletion	Myelodysplastic syndrome	GLikely pathogenic
Select item 963444	NM_032638.5(GATA2):c.599G>C (p.Gly200Ala)	GATA2 (G200A)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +4 more	GUncertain significance
Select item 960756	NM_032638.5(GATA2):c.814G>C (p.Gly272Arg)	GATA2 (G272R)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +3 more	GUncertain significance
Select item 930236	NM_015338.6(ASXL1):c.2862C>A (p.Asp954Glu)	ASXL1 (D954E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 861292	NM_032638.5(GATA2):c.371C>T (p.Thr124Met)	GATA2 (T124M)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +3 more	GUncertain significance
Select item 846616	NM_032638.5(GATA2):c.1114G>A (p.Ala372Thr)	GATA2 (A358T +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +5 more	GConflicting classifications of pathogenicity
Select item 834726	NM_032638.5(GATA2):c.442A>G (p.Ser148Gly)	GATA2 (S148G)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +5 more	GUncertain significance
Select item 807543	NM_015338.6(ASXL1):c.2036dup (p.Gly680fs)	ASXL1 (G619fs +1 more)	Duplication (frameshift variant)	Bohring-Opitz syndrome	GPathogenic
Select item 800686	NM_032638.5(GATA2):c.405_409delinsGTA (p.Gly136fs)	GATA2 (G136fs)	Indel (frameshift variant)	Myelodysplastic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 775489	NM_002074.5(GNB1):c.462C>T (p.Asp154=)	GNB1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 715200	NM_015338.6(ASXL1):c.2059T>C (p.Cys687Arg)	ASXL1 (C626R +1 more)	Single nucleotide variant (missense variant)	Myelodysplastic syndrome +2 more	GBenign/Likely benign
Select item 656906	NM_032638.5(GATA2):c.494A>T (p.His165Leu)	GATA2 (H165L)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +3 more	GUncertain significance
Select item 652480	NM_032638.5(GATA2):c.1024G>A (p.Ala342Thr)	GATA2 (A342T)	Single nucleotide variant (missense variant +1 more)	Monocytopenia with susceptibility to infections +6 more	GUncertain significance
Select item 643216	NM_032638.5(GATA2):c.832T>A (p.Phe278Ile)	GATA2 (F278I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 620281	NM_015338.6(ASXL1):c.2077C>T (p.Arg693Ter)	ASXL1 (R693* +1 more)	Single nucleotide variant (nonsense)	Myelodysplastic syndrome +2 more	GPathogenic
Select item 587611	NM_015338.6(ASXL1):c.4282TCT[1] (p.Ser1429del)	ASXL1 (S1429del +1 more)	Microsatellite (inframe_deletion)	Bohring-Opitz syndrome +2 more	GUncertain significance
Select item 548571	NM_015338.6(ASXL1):c.1910C>G (p.Ala637Gly)	ASXL1 (A637G +1 more)	Single nucleotide variant (missense variant)	Myelodysplastic syndrome +2 more	GUncertain significance
Select item 548554	NM_015338.6(ASXL1):c.4109AGA[1] (p.Lys1371del)	ASXL1 (K1371del +1 more)	Microsatellite (inframe_deletion)	Myelodysplastic syndrome +2 more	GUncertain significance
Select item 521420	NM_015338.6(ASXL1):c.4127dup (p.Pro1377fs)	ASXL1 (P1377fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 472465	NM_032638.5(GATA2):c.748C>T (p.Pro250Ser)	GATA2 (P250S)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +5 more	GUncertain significance
Select item 472462	NM_032638.5(GATA2):c.649C>T (p.Leu217=)	GATA2	Single nucleotide variant (synonymous variant)	Monocytopenia with susceptibility to infections +4 more	GConflicting classifications of pathogenicity
Select item 472452	NM_032638.5(GATA2):c.208G>T (p.Val70Phe)	GATA2 (V70F)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +3 more	GConflicting classifications of pathogenicity
Select item 472438	NM_032638.5(GATA2):c.1232C>T (p.Ala411Val)	GATA2 (A411V +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +6 more	GConflicting classifications of pathogenicity
Select item 472431	NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys)	GATA2 (R361C +1 more)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +5 more	GPathogenic/Likely pathogenic
Select item 435283	NM_032638.5(GATA2):c.829A>G (p.Ser277Gly)	GATA2 (S277G)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +7 more	GConflicting classifications of pathogenicity
Select item 404088	NM_032638.5(GATA2):c.1348G>A (p.Gly450Arg)	GATA2 (G450R +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +5 more	GConflicting classifications of pathogenicity
Select item 404080	NM_032638.5(GATA2):c.445G>A (p.Gly149Arg)	GATA2 (G149R)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +6 more	GConflicting classifications of pathogenicity
Select item 404078	NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr)	GATA2 (S429T +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +7 more	GConflicting classifications of pathogenicity
Select item 376006	NM_012433.4(SF3B1):c.1997A>G (p.Lys666Arg)	SF3B1 (K666R)	Single nucleotide variant (missense variant)	Myelodysplastic syndrome +1 more	GUncertain significance
Select item 376005	NM_012433.4(SF3B1):c.1998G>C (p.Lys666Asn)	SF3B1 (K666N)	Single nucleotide variant (missense variant)	Myelodysplastic syndrome	GLikely pathogenic
Select item 376004	NM_012433.4(SF3B1):c.2098A>G (p.Lys700Glu)	SF3B1 (K700E)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity OOncogenic
Select item 343139	NM_032638.5(GATA2):c.710G>A (p.Gly237Asp)	GATA2 (G237D)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +5 more	GBenign/Likely benign
Select item 338077	NM_015338.6(ASXL1):c.374-9C>T	ASXL1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 338076	NM_015338.6(ASXL1):c.252+11T>C	ASXL1	Single nucleotide variant (intron variant)	Bohring-Opitz syndrome +2 more	GBenign/Likely benign
Select item 241721	NM_032638.5(GATA2):c.182C>T (p.Ala61Val)	GATA2 (A61V)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +5 more	GUncertain significance
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 208722	NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	GNB1 (I80T)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +8 more	GPathogenic/Likely pathogenic
Select item 135327	NM_001127208.3(TET2):c.3409+42G>T	TET2, TET2-AS1 (E1151*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GUncertain significance
Select item 134078	NM_004448.4(ERBB2):c.2790G>T (p.Glu930Asp)	ERBB2 (E900D +21 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 133579	NM_015338.6(ASXL1):c.2957A>G (p.Asn986Ser)	ASXL1 (N986S +1 more)	Single nucleotide variant (missense variant)	Myelodysplastic syndrome +2 more	GBenign/Likely benign
Select item 30986	NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter)	ASXL1 (R404* +1 more)	Single nucleotide variant (nonsense)	Myelodysplastic syndrome +14 more	GPathogenic
Select item 29722	NM_032638.5(GATA2):c.1065_1067del (p.Thr358del)	GATA2 (T344del +1 more)	Deletion (inframe_deletion)	Deafness-lymphedema-leukemia syndrome +1 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 9600	NC_012920.1(MT-TL1):m.3242G>A	MT-TL1	Single nucleotide variant	MELAS syndrome	GPathogenic/Likely pathogenic

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Items: 73