ClinVar (all) for Orgtrack (Select 507106) - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2637935	NM_016734.3(PAX5):c.963del (p.Ala322fs)	PAX5 (A214fs +2 more)	Deletion (frameshift variant +2 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580275	NM_016734.3(PAX5):c.263dup (p.Val90fs)	PAX5 (V90fs)	Duplication (frameshift variant +3 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580274	NM_016734.3(PAX5):c.963dup (p.Ala322fs)	PAX5 (A214fs +2 more)	Duplication (frameshift variant +2 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580273	NM_016734.3(PAX5):c.134_147del (p.Ala45fs)	PAX5 (A45fs)	Deletion (frameshift variant +2 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580272	NM_016734.3(PAX5):c.967G>T (p.Gly323Ter)	PAX5 (G215* +2 more)	Single nucleotide variant (nonsense +2 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580271	NM_016734.3(PAX5):c.388C>A (p.Pro130Thr)	PAX5 (P130T +1 more)	Single nucleotide variant (missense variant +2 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580270	NM_016734.3(PAX5):c.197G>A (p.Ser66Asn)	PAX5 (S66N)	Single nucleotide variant (missense variant +2 more)	Acute lymphoid leukemia	GUncertain significance
Select item 2580269	NM_182918.4(ERG):c.571_572insGGA (p.His191delinsArgAsn)	ERG	Insertion (inframe_indel)	Acute lymphoid leukemia	GUncertain significance
Select item 2580268	NM_182918.4(ERG):c.1088A>G (p.Asp363Gly)	ERG (D247G +5 more)	Single nucleotide variant (missense variant +1 more)	Acute lymphoid leukemia	GUncertain significance
Select item 2580267	NM_182918.4(ERG):c.1087G>A (p.Asp363Asn)	ERG (D247N +5 more)	Single nucleotide variant (missense variant +1 more)	Acute lymphoid leukemia	GUncertain significance
Select item 2580266	NM_182918.4(ERG):c.1102G>A (p.Ala368Thr)	ERG (A252T +5 more)	Single nucleotide variant (missense variant +1 more)	Acute lymphoid leukemia	GUncertain significance
Select item 2580265	NM_182918.4(ERG):c.657G>A (p.Met219Ile)	ERG (M127I +2 more)	Single nucleotide variant (missense variant)	Acute lymphoid leukemia	GUncertain significance
Select item 2580264	NM_016734.3(PAX5):c.1073G>A (p.Trp358Ter)	PAX5 (G281R +5 more)	Single nucleotide variant (nonsense +3 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580263	NM_004936.4(CDKN2B):c.131A>G (p.Asn44Ser)	CDKN2B, CDKN2B-AS1 +1 more (N44S)	Single nucleotide variant (missense variant)	Acute lymphoid leukemia	GUncertain significance
Select item 2580262	NM_000077.5(CDKN2A):c.174_185delinsGG (p.Val59fs)	CDKN2A (S73fs +2 more)	Indel (frameshift variant +1 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580261	NM_000077.5(CDKN2A):c.151-6_151delinsC	CDKN2A	Indel (splice acceptor variant)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580260	NM_006060.6(IKZF1):c.1531C>T (p.Arg511Ter)	IKZF1 (R281* +11 more)	Single nucleotide variant (nonsense)	Acute lymphoid leukemia	GUncertain significance
Select item 2580259	NM_006060.6(IKZF1):c.336_337insGA (p.Pro113fs)	IKZF1 (P113fs +1 more)	Insertion (frameshift variant +1 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580258	NM_006060.6(IKZF1):c.450C>A (p.Cys150Ter)	IKZF1 (C150* +2 more)	Single nucleotide variant (nonsense +1 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580257	NM_016734.3(PAX5):c.46+1G>A	PAX5	Single nucleotide variant (splice donor variant)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580256	NM_006060.6(IKZF1):c.436_438delinsGGGCTCCCTAA (p.Gln146fs)	IKZF1 (Q146fs +2 more)	Indel (intron variant +1 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580255	NM_006060.6(IKZF1):c.271A>T (p.Lys91Ter)	IKZF1 (K111* +1 more)	Single nucleotide variant (nonsense +1 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580254	NM_006060.6(IKZF1):c.475A>T (p.Asn159Tyr)	IKZF1 (N159Y +2 more)	Single nucleotide variant (missense variant +1 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580253	NM_016734.3(PAX5):c.583_584insCGGGGGAGCAA (p.Asn195fs)	LOC105376032, PAX5 (N129fs +2 more)	Insertion (frameshift variant +2 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580252	NM_016734.3(PAX5):c.613G>T (p.Glu205Ter)	PAX5 (E139* +3 more)	Single nucleotide variant (nonsense +1 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580251	NM_016734.3(PAX5):c.1074del (p.Ser357_Trp358insTer)	PAX5 (G281fs)	Deletion (nonsense +3 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580250	NM_001280548.2(PAX5):c.1013-6288_1013-6274del	PAX5	Deletion (intron variant)	Acute lymphoid leukemia	GUncertain significance
Select item 2580249	NM_016734.3(PAX5):c.401C>G (p.Ser134Cys)	PAX5 (S134C +1 more)	Single nucleotide variant (missense variant +2 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2580248	NM_016734.3(PAX5):c.77T>G (p.Val26Gly)	PAX5 (V26G)	Single nucleotide variant (missense variant +2 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 1977663	NM_006060.6(IKZF1):c.26T>C (p.Met9Thr)	IKZF1 (M9T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1343796	NM_004364.5(CEBPA):c.931CAG[3] (p.Gln312_Lys313insGln)	CEBPA	Microsatellite (inframe_insertion)	Acute myeloid leukemia	GLikely pathogenic
Select item 1343795	NM_004364.5(CEBPA):c.174_184del (p.Glu59fs)	CEBPA (E45fs +2 more)	Deletion (frameshift variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 1343794	NM_004364.5(CEBPA):c.926_932delinsT (p.Glu309_Gln311delinsVal)	CEBPA	Indel (inframe_indel)	Acute myeloid leukemia	GLikely pathogenic
Select item 1343793	NM_004364.5(CEBPA):c.180_183del (p.Ile62fs)	CEBPA (I48fs +2 more)	Deletion (5 prime UTR variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 1343792	NM_004364.5(CEBPA):c.946_947insGGA (p.Glu316delinsGlyLys)	CEBPA	Insertion (inframe_indel)	Acute myeloid leukemia	GLikely pathogenic
Select item 1343791	NM_004364.5(CEBPA):c.146del (p.Pro49fs)	CEBPA (P35fs +2 more)	Deletion (5 prime UTR variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 1343790	NM_004364.5(CEBPA):c.918_919insGCGCTGCTTGGCCTTGTCGCAGAC (p.Arg306_Asn307insAlaLeuLeuGlyLeuValAlaAsp)	CEBPA	Insertion (inframe_insertion)	Acute myeloid leukemia	GLikely pathogenic
Select item 1343789	NM_004364.5(CEBPA):c.426del (p.Arg142fs)	CEBPA (R128fs +3 more)	Deletion (frameshift variant)	Acute myeloid leukemia	GLikely pathogenic
Select item 1343788	NM_004364.5(CEBPA):c.334_336del (p.Pro112del)	CEBPA (P112del +2 more)	Deletion (5 prime UTR variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 1343787	NM_004364.5(CEBPA):c.292del (p.Thr98fs)	CEBPA (T133fs +2 more)	Deletion (5 prime UTR variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 1343106	NM_014363.6(SACS):c.3836G>A (p.Trp1279Ter)	SACS (W1132* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 1343105	NM_014363.6(SACS):c.475T>G (p.Tyr159Asp)	SACS (Y12D +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 1342126	NM_006060.6(IKZF1):c.247C>T (p.Arg83Ter)	IKZF1 (R83*)	Single nucleotide variant (nonsense +1 more)	Acute lymphoid leukemia +1 more	GPathogenic
Select item 1285540	NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro)	IKZF1 (L177P +1 more)	Single nucleotide variant (missense variant +1 more)	Acute lymphoid leukemia +1 more	GLikely pathogenic
Select item 1199387	Multiple alleles	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 988381	NM_004364.5(CEBPA):c.247del (p.Gln83fs)	CEBPA (Q118fs +2 more)	Deletion (frameshift variant +1 more)	Acute myeloid leukemia +1 more	GPathogenic/Likely pathogenic
Select item 843602	NM_014363.6(SACS):c.1201C>T (p.Arg401Ter)	SACS (R401* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic
Select item 624590	NM_016734.3(PAX5):c.239C>G (p.Pro80Arg)	PAX5	Single nucleotide variant (missense variant +3 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 463491	NM_000077.5(CDKN2A):c.235A>C (p.Thr79Pro)	CDKN2A (H93P +2 more)	Single nucleotide variant (missense variant +1 more)	Acute lymphoid leukemia +2 more	GUncertain significance
Select item 408748	NM_004364.5(CEBPA):c.296GCG[7] (p.Gly104dup)	CEBPA	Microsatellite (inframe_insertion +1 more)	Acute myeloid leukemia +1 more	GConflicting classifications of pathogenicity
Select item 408742	NM_004364.5(CEBPA):c.546GCC[8] (p.Pro189dup)	CEBPA	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 242492	NM_014363.6(SACS):c.11624G>A (p.Arg3875His)	SACS (R3875H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 239926	NM_004364.5(CEBPA):c.667G>A (p.Gly223Ser)	CEBPA (G223S +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +3 more	GConflicting classifications of pathogenicity
Select item 142448	NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)	CHEK2 (L236P +3 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GConflicting classifications of pathogenicity
Select item 127523	NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr)	CDKN2A (I49T)	Single nucleotide variant (missense variant +1 more)	CDKN2A-related condition +8 more	GConflicting classifications of pathogenicity
Select item 21401	NM_004364.5(CEBPA):c.68dup (p.His24fs)	CEBPA (H24fs +2 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic

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Items: 56