C3469521[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 134305	NM_000136.3(FANCC):c.584A>T (p.Asp195Val)	AOPEP, FANCC (D195V)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
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 969882	NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr)	FANCA, ZNF276 (A1434T)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group A +1 more	GConflicting classifications of pathogenicity
Select item 255266	NM_000135.4(FANCA):c.4260+29T>C	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia complementation group A +2 more	GBenign
Select item 321327	NM_000135.4(FANCA):c.4064A>T (p.His1355Leu)	FANCA, ZNF276 (H1355L)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 408198	NM_000135.4(FANCA):c.3949C>T (p.Arg1317Trp)	FANCA, ZNF276 (R1317W)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group A +1 more	GUncertain significance
Select item 255264	NM_000135.4(FANCA):c.3935-16C>T	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia +3 more	GBenign
Select item 135541	NM_000135.4(FANCA):c.3934+55T>A	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 1210406	NM_000135.4(FANCA):c.3809C>T (p.Ser1270Leu)	FANCA, ZNF276 (S1270L)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia +1 more	GUncertain significance
Select item 255263	NM_000135.4(FANCA):c.3807G>C (p.Leu1269=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	Fanconi anemia +3 more	GBenign
Select item 971638	NM_000135.4(FANCA):c.3697G>A (p.Ala1233Thr)	FANCA (A1233T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +1 more	GUncertain significance
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 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 321340	NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile)	FANCA (V1089I)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GBenign/Likely benign
Select item 255254	NM_000135.4(FANCA):c.3240-42G>A	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +3 more	GBenign
Select item 972555	NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg)	FANCA (G1062R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 376974	NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu)	FANCA (D953E)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 134259	NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu)	FANCA (D902E)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
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 134256	NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)	FANCA (S858R)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 1199273	NM_000135.4(FANCA):c.2444C>G (p.Pro815Arg)	FANCA (P815R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GUncertain significance
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 1180460	NM_000135.4(FANCA):c.2316+67A>G	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +1 more	GBenign
Select item 1180461	NM_000135.4(FANCA):c.2223-114C>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +1 more	GBenign
Select item 1180462	NM_000135.4(FANCA):c.2222+107T>C	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +1 more	GBenign
Select item 1180463	NM_000135.4(FANCA):c.2222+100A>G	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +1 more	GBenign
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 1199304	NM_000135.4(FANCA):c.2123C>T (p.Thr708Met)	FANCA (T708M)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +1 more	GUncertain significance
Select item 265136	NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)	FANCA (C625S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1180464	NM_000135.4(FANCA):c.1826+99T>A	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +1 more	GBenign
Select item 255241	NM_000135.4(FANCA):c.1826+15T>C	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia +3 more	GBenign
Select item 1180465	NM_000135.4(FANCA):c.1715+82T>C	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +1 more	GBenign
Select item 953274	NM_000135.4(FANCA):c.1634G>T (p.Ser545Ile)	FANCA (S545I)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +1 more	GConflicting classifications of pathogenicity
Select item 1003456	NM_000135.4(FANCA):c.1627C>T (p.Pro543Ser)	FANCA (P543S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +1 more	GUncertain significance
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 134244	NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser)	FANCA (G501S)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1180470	NM_000135.4(FANCA):c.1471-73G>A	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +1 more	GBenign
Select item 1180471	NM_000135.4(FANCA):c.1471-119A>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +1 more	GBenign
Select item 255232	NM_000135.4(FANCA):c.1226-20A>G	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia +3 more	GBenign
Select item 1180472	NM_000135.4(FANCA):c.1226-80T>C	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +1 more	GBenign
Select item 1180473	NM_000135.4(FANCA):c.1225+151T>C	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +1 more	GBenign
Select item 255229	NM_000135.4(FANCA):c.1084-29A>G	FANCA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 255230	NM_000135.4(FANCA):c.1084-49G>C	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +2 more	GBenign
Select item 1180474	NM_000135.4(FANCA):c.1083+120G>A	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +1 more	GBenign
Select item 1180475	NM_000135.4(FANCA):c.1006+112G>A	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +1 more	GBenign
Select item 1199274	NM_000135.4(FANCA):c.843G>C (p.Leu281Phe)	FANCA (L249F +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GUncertain significance
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 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 1180476	NM_000135.4(FANCA):c.596+143T>G	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +1 more	GBenign
Select item 1180477	NM_000135.4(FANCA):c.596+74G>A	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +1 more	GBenign

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Items: 52