Related gene-specific medical variations for Gene (Select 2624) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362128	NM_032638.5(GATA2):c.31A>T (p.Met11Leu)	GATA2 (M11L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360410	NM_032638.5(GATA2):c.576_578del (p.Pro193del)	GATA2 (P193del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3360407	NM_032638.5(GATA2):c.1084C>G (p.Arg362Gly)	GATA2 (R348G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3065366	NM_032638.5(GATA2):c.79C>T (p.Pro27Ser)	GATA2 (P27S)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections	GLikely benign
Select item 3064960	NM_032638.5(GATA2):c.1103C>G (p.Pro368Arg)	GATA2 (P354R +1 more)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections	GLikely pathogenic
Select item 2675843	NM_032638.5(GATA2):c.1202C>G (p.Ser401Cys)	GATA2 (S387C +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2675841	NM_032638.5(GATA2):c.154C>G (p.Leu52Val)	GATA2 (L52V)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2675840	NM_032638.5(GATA2):c.7G>C (p.Val3Leu)	GATA2 (V3L)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2442796	NM_032638.5(GATA2):c.750del (p.Ser251fs)	GATA2 (S251fs)	Deletion (frameshift variant)	Monocytopenia with susceptibility to infections	GLikely pathogenic
Select item 2442792	NM_032638.5(GATA2):c.1018_1036delinsAATTT (p.Ser340fs)	GATA2 (S340fs)	Indel (frameshift variant +1 more)	Monocytopenia with susceptibility to infections	GLikely pathogenic
Select item 1337577	NM_032638.5(GATA2):c.-328del	GATA2, GATA2-AS1	Deletion (5 prime UTR variant)	not specified	GUncertain significance
Select item 1337059	NM_032638.5(GATA2):c.-120C>G	GATA2, GATA2-AS1 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1336921	NM_032638.5(GATA2):c.-314G>A	GATA2, GATA2-AS1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1336878	NM_032638.5(GATA2):c.-99A>G	GATA2, GATA2-AS1 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1336299	NM_032638.5(GATA2):c.-179G>C	GATA2, GATA2-AS1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1319425	NM_032638.5(GATA2):c.35C>A (p.Ala12Glu)	GATA2 (A12E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 975812	NC_000003.11:g.(128203154_128202733)_(128202028_128201205)del	GATA2	Deletion	Myelodysplastic syndrome	GLikely pathogenic
Select item 903487	NM_032638.5(GATA2):c.-214G>A	GATA2, GATA2-AS1	Single nucleotide variant (5 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 903486	NM_032638.5(GATA2):c.-114C>T	GATA2, GATA2-AS1 +1 more	Single nucleotide variant (5 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 800697	NM_032638.5(GATA2):c.890del (p.Asn297fs)	GATA2 (N297fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 800696	NM_032638.5(GATA2):c.844C>T (p.Gln282Ter)	GATA2 (Q282*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 800694	NM_032638.5(GATA2):c.785G>A (p.Ser262Asn)	GATA2 (S262N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 800693	NM_032638.5(GATA2):c.655dup (p.Glu219fs)	GATA2 (E219fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 800688	NM_032638.5(GATA2):c.554_628delinsTAGCACCACGGGGGCT (p.Pro185fs)	GATA2 (P185fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 800687	NM_032638.5(GATA2):c.524C>G (p.Pro175Arg)	GATA2 (P175R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 800682	NM_032638.5(GATA2):c.1186C>G (p.Arg396Gly)	GATA2 (R382G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 800680	NM_032638.5(GATA2):c.1159_1160dup (p.Met388fs)	GATA2 (M374fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 800679	NM_032638.5(GATA2):c.1144-1G>C	GATA2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 800675	NM_032638.5(GATA2):c.1036_1056dup (p.Gly346_Cys352dup)	GATA2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 800672	NM_032638.5(GATA2):c.1018-2A>C	GATA2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 800671	NM_032638.5(GATA2):c.1017+2T>A	GATA2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 636938	NM_032638.5(GATA2):c.1144-1_1146del	GATA2	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 636528	NM_032638.5(GATA2):c.953_977dup (p.Gly327fs)	GATA2 (G327fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 435279	NM_032638.5(GATA2):c.-106T>G	GATA2, GATA2-AS1 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 435278	NM_032638.5(GATA2):c.-54C>T	GATA2, GATA2-AS1	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 343148	NM_032638.5(GATA2):c.-276T>G	GATA2, GATA2-AS1	Single nucleotide variant (5 prime UTR variant)	Deafness-lymphedema-leukemia syndrome +1 more	GBenign
Select item 343147	NM_032638.5(GATA2):c.-215C>T	GATA2, GATA2-AS1	Single nucleotide variant (5 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 343146	NM_032638.5(GATA2):c.-193C>T	GATA2, GATA2-AS1	Single nucleotide variant (5 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 343145	NM_032638.5(GATA2):c.-180C>A	GATA2, GATA2-AS1	Single nucleotide variant (5 prime UTR variant)	Deafness-lymphedema-leukemia syndrome	GUncertain significance
Select item 343144	NM_032638.5(GATA2):c.-46+13C>T	GATA2, GATA2-AS1	Single nucleotide variant (intron variant)	Deafness-lymphedema-leukemia syndrome	GLikely benign
Select item 257568	NM_032638.5(GATA2):c.872-5T>C	GATA2	Single nucleotide variant (intron variant)	not specified	GLikely benign

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Links from Gene

Items: 49