C3469521[trait identifier] AND "KCCC/NGS Laboratory, Kuwait Cancer Con - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 257065	NM_001018115.3(FANCD2):c.1122A>G (p.Val374=)	LOC107303338, FANCD2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 134312	NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser)	FANCD2, LOC107303338 (N545S)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group A +4 more	GBenign/Likely benign
Select item 134314	NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro)	FANCD2, LOC107303338 (Q623P +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +5 more	GBenign/Likely benign
Select item 134315	NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu)	FANCD2, LOC107303338 (P714L +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GBenign/Likely benign
Select item 134297	NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg)	FANCC, AOPEP (Q465R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 255274	NM_000136.3(FANCC):c.1161C>T (p.Cys387=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group A +5 more	GLikely benign
Select item 134304	NM_000136.3(FANCC):c.416G>A (p.Gly139Glu)	FANCC (G139E)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 134301	NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)	FANCC (S26F)	Single nucleotide variant (missense variant)	Fanconi anemia +5 more	GConflicting classifications of pathogenicity
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
Select item 210985	NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe)	FANCI (L605F +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +4 more	GBenign/Likely benign
Select item 255262	NM_000135.4(FANCA):c.3765+37G>A	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +2 more	GBenign
Select item 255261	NM_000135.4(FANCA):c.3654A>G (p.Pro1218=)	FANCA	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 255260	NM_000135.4(FANCA):c.3591G>A (p.Leu1197=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group A +3 more	GBenign/Likely benign
Select item 134269	NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp)	FANCA (R1195W)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +3 more	GConflicting classifications of pathogenicity
Select item 134270	NM_000135.4(FANCA):c.3538G>A (p.Val1180Met)	FANCA (V1180M)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 255259	NM_000135.4(FANCA):c.3408+45G>A	FANCA, LOC132090450	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +2 more	GBenign
Select item 255257	NM_000135.4(FANCA):c.3408+33T>C	FANCA, LOC132090450	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +2 more	GBenign
Select item 255256	NM_000135.4(FANCA):c.3348+29C>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +2 more	GLikely benign
Select item 255255	NM_000135.4(FANCA):c.3348+18A>G	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +3 more	GBenign/Likely benign
Select item 414839	NM_000135.4(FANCA):c.3183C>T (p.Ser1061=)	FANCA	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 255253	NM_000135.4(FANCA):c.3067-4T>C	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +3 more	GBenign
Select item 255252	NM_000135.4(FANCA):c.3067-23G>A	FANCA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 414834	NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys)	FANCA (R1011C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +3 more	GBenign/Likely benign
Select item 255251	NM_000135.4(FANCA):c.2901C>T (p.Ser967=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GBenign
Select item 255250	NM_000135.4(FANCA):c.2779-7T>C	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +3 more	GBenign
Select item 456099	NM_000135.4(FANCA):c.2637C>T (p.Ala879=)	FANCA, LOC130059837	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 255247	NM_000135.4(FANCA):c.2602-19G>C	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +2 more	GBenign/Likely benign
Select item 255248	NM_000135.4(FANCA):c.2602-36G>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +2 more	GBenign
Select item 255249	NM_000135.4(FANCA):c.2602-46T>A	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +2 more	GBenign
Select item 456096	NM_000135.4(FANCA):c.2502G>A (p.Leu834=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 134254	NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp)	FANCA (G809D)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 414837	NM_000135.4(FANCA):c.2364C>T (p.Ala788=)	FANCA	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 134253	NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu)	FANCA (P739L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 255245	NM_000135.4(FANCA):c.2151+8T>C	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +3 more	GBenign
Select item 134252	NM_000135.4(FANCA):c.2151G>T (p.Met717Ile)	FANCA (M717I)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 134251	NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu)	FANCA (K701E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 237038	NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu)	FANCA (S674L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +3 more	GBenign/Likely benign
Select item 255244	NM_000135.4(FANCA):c.2015-5C>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +2 more	GConflicting classifications of pathogenicity
Select item 255243	NM_000135.4(FANCA):c.1941G>A (p.Glu647=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group A +3 more	GBenign
Select item 134247	NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala)	FANCA (P643A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 456090	NM_000135.4(FANCA):c.1900+7T>A	FANCA	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 255241	NM_000135.4(FANCA):c.1826+15T>C	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia +3 more	GBenign
Select item 210972	NM_000135.4(FANCA):c.1826+12C>T	FANCA	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 255239	NM_000135.4(FANCA):c.1777-29T>C	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +2 more	GBenign
Select item 255238	NM_000135.4(FANCA):c.1627-32T>C	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +2 more	GBenign
Select item 255236	NM_000135.4(FANCA):c.1626+16C>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +3 more	GBenign/Likely benign
Select item 134244	NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser)	FANCA (G501S)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 321359	NM_000135.4(FANCA):c.1360-7C>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +3 more	GBenign
Select item 456076	NM_000135.4(FANCA):c.1290G>T (p.Ala430=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 255233	NM_000135.4(FANCA):c.1290G>A (p.Ala430=)	FANCA	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 134242	NM_000135.4(FANCA):c.1235C>T (p.Ala412Val)	FANCA (A412V)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 255232	NM_000135.4(FANCA):c.1226-20A>G	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia +3 more	GBenign
Select item 255231	NM_000135.4(FANCA):c.1143G>T (p.Thr381=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group A +3 more	GBenign
Select item 237061	NM_000135.4(FANCA):c.903G>T (p.Val301=)	FANCA	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 255270	NM_000135.4(FANCA):c.894-8A>G	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +3 more	GBenign
Select item 134238	NM_000135.4(FANCA):c.857A>G (p.Gln286Arg)	FANCA (Q286R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 134294	NM_000135.4(FANCA):c.796A>G (p.Thr266Ala)	FANCA (T266A +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 134293	NM_000135.4(FANCA):c.755A>G (p.Asp252Gly)	FANCA (D252G +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 255269	NM_000135.4(FANCA):c.710-12A>G	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +3 more	GBenign
Select item 237055	NM_000135.4(FANCA):c.694A>C (p.Arg232=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 134289	NM_000135.4(FANCA):c.623C>T (p.Ser208Leu)	FANCA (S208L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 134287	NM_000135.4(FANCA):c.542C>T (p.Ala181Val)	FANCA (A181V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 255267	NM_000135.4(FANCA):c.427-25T>A	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +2 more	GBenign
Select item 456126	NM_000135.4(FANCA):c.399C>T (p.His133=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GBenign/Likely benign
Select item 435124	NM_000135.4(FANCA):c.342C>T (p.Ala114=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GLikely benign
Select item 237033	NM_000135.4(FANCA):c.115A>C (p.Arg39=)	FANCA	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 135542	NM_000135.4(FANCA):c.80-13C>T	FANCA	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 134236	NM_000135.4(FANCA):c.24C>G (p.Asn8Lys)	FANCA, LOC112486223 (N8K)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 321376	NM_000135.4(FANCA):c.21G>T (p.Pro7=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 134237	NM_000135.4(FANCA):c.17T>A (p.Val6Asp)	FANCA, LOC112486223 (V6D)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 246611	NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)	FANCB (F590S)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus +6 more	GConflicting classifications of pathogenicity
Select item 2628066	NM_004006.2:g.(?_89845141)_(89858973_?)del	DMD, FANCA	Deletion	Fanconi anemia complementation group A	GPathogenic

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Items: 72