ClinVar for PubMed (Select 15523645) - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2831852	NM_000135.4(FANCA):c.827-1G>A	FANCA	Single nucleotide variant (splice acceptor variant)	Fanconi anemia	GLikely pathogenic
Select item 2422413	NC_000016.9:g.(?_89815047)_(89816330_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 2107507	NM_000135.4(FANCA):c.4168-1G>A	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia	GPathogenic
Select item 1492421	NM_000135.4(FANCA):c.1304G>C (p.Arg435Pro)	FANCA (R435P)	Single nucleotide variant (missense variant)	Fanconi anemia	GLikely pathogenic
Select item 1459588	NC_000016.9:g.(?_89836111)_(89858965_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 1459283	NC_000016.9:g.(?_89874692)_(89881031_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 1073172	NC_000016.9:g.(?_89842140)_(89851382_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 1071161	NC_000016.9:g.(?_89880918)_(89881031_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 1066576	NC_000016.9:g.(?_89857801)_(89881031_?)del	FANCA	Deletion	Fanconi anemia	GLikely pathogenic
Select item 974353	NM_000135.4(FANCA):c.3350G>C (p.Arg1117Thr)	FANCA (R1117T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GPathogenic
Select item 974328	NM_000135.4(FANCA):c.2170A>C (p.Thr724Pro)	FANCA (T724P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GPathogenic
Select item 974325	NM_000135.4(FANCA):c.2151+328_2778+1085del	FANCA, LOC130059837 +1 more	Deletion (splice acceptor variant +1 more)	Fanconi anemia complementation group A	GPathogenic
Select item 974305	NM_000135.2(FANCA):c.1007-10_2504+209del	FANCA	Deletion	Fanconi anemia complementation group A	GPathogenic
Select item 974301	NM_000135.4(FANCA):c.978_979del (p.Gln326fs)	FANCA (Q326fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A	GPathogenic
Select item 974263	NM_000135.4(FANCA):c.3765+1G>T	FANCA	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group A	GPathogenic
Select item 974257	NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln)	FANCA (R1055Q)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 974256	NM_000135.4(FANCA):c.3163C>G (p.Arg1055Gly)	FANCA (R1055G)	Single nucleotide variant (missense variant)	Fanconi anemia	GLikely pathogenic
Select item 974241	NM_000135.4(FANCA):c.2602-1G>A	FANCA, LOC130059837	Single nucleotide variant (splice acceptor variant)	Fanconi anemia	GPathogenic
Select item 974240	NM_000135.4(FANCA):c.2602-2A>C	FANCA, LOC130059837	Single nucleotide variant (splice acceptor variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 974192	NM_000135.4(FANCA):c.505G>T (p.Glu169Ter)	FANCA (E169*)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia complementation group A	GPathogenic
Select item 974172	NM_000135.4(FANCA):c.4240_4241del (p.Ser1414fs)	FANCA, ZNF276 (E1415fs +1 more)	Microsatellite (frameshift variant +2 more)	Fanconi anemia	GPathogenic
Select item 974170	NM_000135.4(FANCA):c.4168-1G>C	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia complementation group A	GPathogenic
Select item 974162	NM_000135.4(FANCA):c.3627-3_3627-2del	FANCA	Deletion (splice acceptor variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 974109	NM_000135.4(FANCA):c.827-1G>T	FANCA	Single nucleotide variant (splice acceptor variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 974065	NM_000135.4(FANCA):c.4015_4017del (p.Leu1339del)	FANCA, ZNF276 (L1339del)	Deletion (inframe_deletion +2 more)	Fanconi anemia complementation group A	GPathogenic
Select item 973984	NC_000016.10:g.(?_89737551)_(89814614_89815876)del	FANCA, ZNF276	Deletion	Fanconi anemia complementation group A	GPathogenic
Select item 973983	NC_000016.10:g.(89805393_89808293)_(89814614_89815876)del	FANCA	Deletion	Fanconi anemia complementation group A	GPathogenic
Select item 973982	NC_000016.10:g.(89811072_89814519)_(89814614_89815876)del	FANCA	Deletion	Fanconi anemia complementation group A	GPathogenic
Select item 969801	NM_000135.4(FANCA):c.3638_3639del (p.Pro1213fs)	FANCA (P1213fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic
Select item 858596	NM_000135.4(FANCA):c.3918dup (p.Gln1307fs)	FANCA, ZNF276 (Q1307fs)	Duplication (frameshift variant +2 more)	Fanconi anemia complementation group A +1 more	GPathogenic
Select item 832294	NC_000016.10:g.(?_89748641)_(89765076_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 831166	NC_000016.10:g.(?_89791393)_(89799648_?)del	FANCA	Deletion	Fanconi anemia	GLikely pathogenic
Select item 830952	NC_000016.10:g.(?_89748649)_(89765076_?)del	FANCA	Deletion	Fanconi anemia	GPathogenic
Select item 556625	NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu)	FANCA (R435L)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 555603	NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys)	FANCA (R435C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +2 more	GPathogenic/Likely pathogenic
Select item 555572	NM_000135.4(FANCA):c.2602-2A>T	FANCA, LOC130059837	Single nucleotide variant (splice acceptor variant)	Fanconi anemia +1 more	GPathogenic
Select item 555008	NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)	FANCA (R1055W)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GPathogenic/Likely pathogenic
Select item 554084	NM_000135.4(FANCA):c.2602T>G (p.Phe868Val)	FANCA, LOC130059837 (F868V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GUncertain significance
Select item 553736	NM_000135.4(FANCA):c.3934+2T>C	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 526352	NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu)	FANCA (P1194L)	Single nucleotide variant (missense variant)	Fanconi anemia	GLikely pathogenic
Select item 408183	NM_000135.4(FANCA):c.1304G>A (p.Arg435His)	FANCA (R435H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +1 more	GPathogenic/Likely pathogenic
Select item 408166	NM_000135.4(FANCA):c.2546del (p.Ser849fs)	FANCA (S849fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic
Select item 3448	NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs)	FANCA (E1240fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic

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Items: 43