ClinVar (all) for Orgtrack (Select 505354) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2626817	NM_015450.3(POT1):c.1651G>A (p.Gly551Arg)	POT1 (G420R +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GLikely pathogenic
Select item 2626816	NM_015450.3(POT1):c.1507T>G (p.Cys503Gly)	POT1 (C372G +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GLikely pathogenic
Select item 2626815	NM_015450.3(POT1):c.728G>A (p.Ser243Asn)	POT1 (S112N +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2626814	NM_001330360.2(POLA1):c.1627C>A (p.Leu543Ile)	POLA1 (L518I +2 more)	Single nucleotide variant (missense variant +1 more)	Inherited aplastic anemia	GLikely pathogenic
Select item 2626813	NM_001330360.2(POLA1):c.3455A>G (p.Tyr1152Cys)	POLA1 (Y1127C +2 more)	Single nucleotide variant (missense variant +1 more)	Inherited aplastic anemia	GLikely pathogenic
Select item 2626812	NM_017612.5(ZCCHC8):c.551G>A (p.Gly184Glu)	ZCCHC8 (G184E +1 more)	Single nucleotide variant (missense variant +1 more)	Inherited acute myeloid leukemia	GLikely pathogenic
Select item 2626811	NM_017612.5(ZCCHC8):c.508G>C (p.Gly170Arg)	ZCCHC8 (G170R +1 more)	Single nucleotide variant (missense variant +1 more)	Inherited aplastic anemia	GLikely pathogenic
Select item 2626810	NM_017612.5(ZCCHC8):c.658G>C (p.Val220Leu)	ZCCHC8 (V121L +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2626809	NM_017612.5(ZCCHC8):c.337G>A (p.Glu113Lys)	ZCCHC8 (E113K +1 more)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita	GLikely pathogenic
Select item 2626808	NM_017612.5(ZCCHC8):c.586G>A (p.Glu196Lys)	ZCCHC8 (E196K +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2626807	NM_001330360.2(POLA1):c.1864A>G (p.Arg622Gly)	POLA1 (R597G +2 more)	Single nucleotide variant (missense variant +1 more)	Inherited aplastic anemia	GLikely pathogenic
Select item 1917177	NM_017612.5(ZCCHC8):c.196G>A (p.Glu66Lys)	ZCCHC8 (E66K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1693540	NM_001071.4(TYMS):c.811C>T (p.Arg271Ter)	ENOSF1, TYMS (R188* +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Dyskeratosis congenita	GPathogenic
Select item 1693539	NM_001071.4(TYMS):c.556+1G>A	ENOSF1, TYMS	Single nucleotide variant (splice donor variant +1 more)	Dyskeratosis congenita	GPathogenic
Select item 1693538	NM_001071.4(TYMS):c.534_535insTG (p.Met179Ter)	ENOSF1, TYMS (M179* +1 more)	Insertion (nonsense +1 more)	Dyskeratosis congenita	GPathogenic
Select item 1693537	NM_001071.4(TYMS):c.486_487del (p.Arg163fs)	ENOSF1, TYMS (R163fs +1 more)	Deletion (frameshift variant +1 more)	Dyskeratosis congenita	GPathogenic
Select item 1693536	NM_001071.4(TYMS):c.480A>T (p.Gln160His)	ENOSF1, TYMS (Q160H +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1693535	NM_001071.4(TYMS):c.343C>T (p.Arg115Ter)	TYMS (R115*)	Single nucleotide variant (nonsense +1 more)	Dyskeratosis congenita	GPathogenic
Select item 1693534	NM_001071.4(TYMS):c.259G>A (p.Glu87Lys)	TYMS (E87K)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1174159	NM_020207.7(ERCC6L2):c.2474_2484delinsAAAG (p.Thr825fs)	ERCC6L2 (T825fs)	Indel (frameshift variant +1 more)	Thrombocytopenia	GLikely pathogenic
Select item 1174158	NM_020207.7(ERCC6L2):c.2919_2923del (p.Lys974fs)	ERCC6L2 (K974fs)	Microsatellite (frameshift variant +1 more)	Bone marrow hypocellularity	GLikely pathogenic
Select item 1174157	NM_020207.7:c.[2156delG];[3300_3303delTCAA]			Leukopenia +1 more	GLikely pathogenic
Select item 1174155	NM_020207.7(ERCC6L2):c.1973G>A (p.Ser658Asn)	ERCC6L2 (S658N)	Single nucleotide variant (missense variant +1 more)	Bone marrow hypocellularity +1 more	GUncertain significance
Select item 1174154	NM_020207.7(ERCC6L2):c.2734del (p.Glu912fs)	ERCC6L2 (E912fs)	Deletion (frameshift variant +1 more)	Bone marrow hypocellularity	GLikely pathogenic
Select item 1174153	NM_020207.7:c.[3409_3410delAT];[3763C>T]			Bone marrow hypocellularity +1 more	GLikely pathogenic
Select item 1029475	NM_017612.5(ZCCHC8):c.508G>A (p.Gly170Arg)	ZCCHC8 (G170R +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 +1 more	GConflicting classifications of pathogenicity
Select item 1013624	Single allele	RUNX1	Deletion	Acute myeloid leukemia	GLikely pathogenic
Select item 1013623	Single allele	RUNX1	Deletion	Acute myeloid leukemia	GLikely pathogenic
Select item 1013622	Single allele	RUNX1	Deletion	Thrombocytopenia	GLikely pathogenic
Select item 1013621	NM_001754.5(RUNX1):c.1088_1094del (p.Gly363fs)	RUNX1 (G336fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 1013620	NM_001754.5(RUNX1):c.588del (p.Val197fs)	RUNX1, RUNX1-AS1 (V170fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 1013619	NM_001754.5(RUNX1):c.165dup (p.Leu56fs)	RUNX1 (L29fs +1 more)	Duplication (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 978209	NM_016222.4(DDX41):c.142C>T (p.Gln48Ter)	DDX41 (Q48*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 978208	NM_016222.4(DDX41):c.1436G>A (p.Arg479Gln)	DDX41 (R353Q +1 more)	Single nucleotide variant (missense variant)	DDX41-related condition +2 more	GUncertain significance
Select item 978207	NM_016222.4(DDX41):c.253G>T (p.Val85Phe)	DDX41 (V85F)	Single nucleotide variant (5 prime UTR variant +1 more)	Aplastic anemia	GUncertain significance
Select item 978206	NM_016222.4(DDX41):c.517G>A (p.Gly173Arg)	DDX41 (G173R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 978205	NM_016222.4(DDX41):c.370C>T (p.Arg124Ter)	DDX41 (R124*)	Single nucleotide variant (5 prime UTR variant +1 more)	Myelodysplasia	GPathogenic
Select item 978204	NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs)	DDX41 (T403fs +1 more)	Microsatellite (frameshift variant)	DDX41-related condition +2 more	GPathogenic/Likely pathogenic
Select item 978203	NM_016222.4(DDX41):c.719delinsCG (p.Ile240fs)	DDX41 (I114fs +1 more)	Indel (frameshift variant)	Acute myeloid leukemia	GPathogenic
Select item 978202	NM_016222.4(DDX41):c.155dup (p.Arg53fs)	DDX41 (R53fs)	Duplication (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 850461	NM_015450.3(POT1):c.1255T>C (p.Tyr419His)	POT1 (Y419H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 561236	NM_001754.5(RUNX1):c.351+1G>A	RUNX1	Single nucleotide variant (splice donor variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 541876	NM_015450.3(POT1):c.1294C>T (p.Arg432Ter)	POT1 (R432* +1 more)	Single nucleotide variant (nonsense +1 more)	Tumor predisposition syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 436390	NM_015450.3(POT1):c.437C>T (p.Pro146Leu)	POT1 (P146L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 224637	NM_016222.4(DDX41):c.3G>A (p.Met1Ile)	DDX41 (M1I)	Single nucleotide variant (5 prime UTR variant +2 more)	DDX41-related hematologic malignancy predisposition syndrome +2 more	GPathogenic/Likely pathogenic
Select item 222066	NM_001012339.3(DNAJC21):c.983+1G>A	DNAJC21	Single nucleotide variant (splice donor variant)	Bone marrow failure syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 222065	NM_001012339.3(DNAJC21):c.793G>T (p.Glu265Ter)	DNAJC21 (E265*)	Single nucleotide variant (nonsense)	Bone marrow failure syndrome 3 +1 more	GPathogenic
Select item 222064	NM_001012339.3(DNAJC21):c.517C>T (p.Arg173Ter)	DNAJC21 (R173*)	Single nucleotide variant (nonsense)	Bone marrow failure syndrome 3 +1 more	GPathogenic
Select item 222063	NM_001012339.3(DNAJC21):c.94C>G (p.Pro32Ala)	DNAJC21, LOC129993792 (P32A)	Single nucleotide variant (missense variant)	Bone marrow failure syndrome 3 +1 more	GPathogenic
Select item 180663	NM_002582.3(PARN):c.[659+4_659+7delAGTA(;)863dupA]	PARN (N242fs +2 more)	Duplication (frameshift variant +1 more)	Dyskeratosis congenita	GPathogenic
Select item 180662	NM_002582.4(PARN):c.918+1G>T	PARN	Single nucleotide variant (splice donor variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GPathogenic
Select item 180661	NM_002582.4(PARN):c.1148C>T (p.Ala383Val)	PARN (A383V +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GPathogenic

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Items: 52