C0002874[trait identifier] AND "KCCC/NGS Laboratory, Kuwait Cancer Con - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 39119	NM_198253.3(TERT):c.3039C>T (p.His1013=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Acute myeloid leukemia +7 more	GBenign
Select item 242235	NM_198253.3(TERT):c.2991G>A (p.Val997=)	TERT	Single nucleotide variant (synonymous variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 350723	NM_198253.3(TERT):c.2582+11C>T	TERT	Single nucleotide variant (intron variant)	Acute myeloid leukemia +5 more	GBenign/Likely benign
Select item 263107	NM_198253.3(TERT):c.2517G>A (p.Thr839=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Aplastic anemia +7 more	GBenign/Likely benign
Select item 39107	NM_198253.3(TERT):c.2097C>T (p.Ala699=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Acute myeloid leukemia +7 more	GBenign
Select item 227096	NM_198253.3(TERT):c.2031C>T (p.Gly677=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +7 more	GBenign
Select item 227097	NM_198253.3(TERT):c.1950+10C>T	TERT	Single nucleotide variant (intron variant)	not provided +6 more	GBenign
Select item 416292	NM_198253.3(TERT):c.1932G>A (p.Thr644=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +9 more	GLikely benign
Select item 263104	NM_198253.3(TERT):c.1849C>T (p.Leu617=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +7 more	GConflicting classifications of pathogenicity
Select item 242219	NM_198253.3(TERT):c.1659C>T (p.Val553=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +7 more	GBenign
Select item 228005	NM_198253.3(TERT):c.1574-7G>A	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 1 +10 more	GBenign/Likely benign
Select item 242217	NM_198253.3(TERT):c.1392C>T (p.Phe464=)	TERT	Single nucleotide variant (synonymous variant +1 more)	not specified +7 more	GBenign/Likely benign
Select item 39126	NM_198253.3(TERT):c.915G>A (p.Ala305=)	TERT	Single nucleotide variant (synonymous variant +1 more)	not provided +10 more	GBenign
Select item 350804	NM_198253.3(TERT):c.572G>C (p.Ser191Thr)	TERT (S191T)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 21545	NM_016038.4(SBDS):c.652C>T (p.Arg218Ter)	SBDS (R218*)	Single nucleotide variant (nonsense)	Aplastic anemia +1 more	GPathogenic/Likely pathogenic
Select item 132690	NM_002485.5(NBN):c.1882G>A (p.Glu628Lys)	LOC126860438, NBN (E628K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 134872	NM_002485.5(NBN):c.1489A>G (p.Thr497Ala)	NBN (T497A +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +6 more	GBenign/Likely benign
Select item 127856	NM_002485.5(NBN):c.1222A>G (p.Lys408Glu)	NBN (K408E +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +6 more	GBenign/Likely benign
Select item 378236	NM_002485.5(NBN):c.995-17A>G	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency +3 more	GBenign/Likely benign
Select item 134878	NM_002485.5(NBN):c.797C>T (p.Pro266Leu)	NBN (P266L +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +6 more	GBenign/Likely benign
Select item 132744	NM_002485.5(NBN):c.381T>C (p.Ala127=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 490056	NM_002485.5(NBN):c.37+11A>G	NBN	Single nucleotide variant (intron variant)	Acute lymphoid leukemia +5 more	GBenign/Likely benign
Select item 13711	NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp)	PRF1 (R225W)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis +4 more	GPathogenic
Select item 414849	NM_020937.4(FANCM):c.3296G>A (p.Arg1099His)	FANCM (R1099H +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +6 more	GConflicting classifications of pathogenicity

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Items: 24