"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "FANCA"[gen - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 696165	NM_000135.4(FANCA):c.4335C>T (p.Asp1445=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 3067278	NM_000135.4(FANCA):c.4261C>T (p.Leu1421=)	FANCA, ZNF276 (A1422V)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2647135	NM_001113525.2(ZNF276):c.*604C>G	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 134282	NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)	FANCA, ZNF276 (H1417D +1 more)	Single nucleotide variant (missense variant +2 more)	FANCA-related condition +4 more	GConflicting classifications of pathogenicity
Select item 1000018	NM_000135.4(FANCA):c.4188A>G (p.Ile1396Met)	FANCA, ZNF276 (I1396M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 134281	NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr)	FANCA, ZNF276 (A1346T)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 582405	NM_000135.4(FANCA):c.4010+1_4010+18del	FANCA, ZNF276	Deletion (3 prime UTR variant +2 more)	Fanconi anemia +3 more	GPathogenic/Likely pathogenic
Select item 546779	NM_000135.4(FANCA):c.4009A>T (p.Ser1337Cys)	FANCA, ZNF276 (S1337C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 623912	NM_000135.4(FANCA):c.4000G>A (p.Ala1334Thr)	FANCA, ZNF276 (A1334T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 215634	NM_000135.4(FANCA):c.3981C>T (p.His1327=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2647136	NM_000135.4(FANCA):c.3813A>G (p.Ser1271=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 526454	NM_000135.4(FANCA):c.3810G>A (p.Ser1270=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia +4 more	GLikely benign
Select item 695850	NM_000135.4(FANCA):c.3801C>T (p.Gly1267=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1066827	NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del)	FANCA, ZNF276 (S1264del)	Deletion (inframe_deletion +2 more)	Fanconi anemia complementation group A +2 more	GPathogenic/Likely pathogenic
Select item 41003	NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)	FANCA, ZNF276 (F1263del)	Microsatellite (inframe_deletion +2 more)	FANCA-related condition +3 more	GPathogenic
Select item 1424279	NM_000135.4(FANCA):c.3754G>A (p.Glu1252Lys)	FANCA (E1252K)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 697899	NM_000135.4(FANCA):c.3693C>T (p.His1231=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GLikely benign
Select item 808164	NM_000135.4(FANCA):c.3626+4C>T	FANCA	Single nucleotide variant (intron variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 419528	NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)	FANCA	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 623913	NM_000135.4(FANCA):c.3613C>T (p.Gln1205Ter)	FANCA (Q1205*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 134269	NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp)	FANCA (R1195W)	Single nucleotide variant (missense variant)	FANCA-related condition +4 more	GConflicting classifications of pathogenicity
Select item 526465	NM_000135.4(FANCA):c.3450G>A (p.Leu1150=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 134267	NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val)	FANCA (L1143V)	Single nucleotide variant (missense variant)	FANCA-related condition +4 more	GConflicting classifications of pathogenicity
Select item 1164137	NM_000135.4(FANCA):c.3420C>T (p.Asn1140=)	FANCA	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 134265	NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val)	FANCA (L1138V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 237048	NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)	LOC132090450, FANCA (T1131A)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 1532928	NM_000135.4(FANCA):c.3384G>A (p.Gln1128=)	FANCA, LOC132090450	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 321339	NM_000135.4(FANCA):c.3348+7G>T	FANCA	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 871226	NM_000135.4(FANCA):c.3260C>T (p.Ser1087Leu)	FANCA (S1087L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 321341	NM_000135.4(FANCA):c.3138C>T (p.His1046=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 408176	NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)	FANCA (D1033E)	Single nucleotide variant (missense variant)	FANCA-related condition +3 more	GConflicting classifications of pathogenicity
Select item 697198	NM_000135.4(FANCA):c.3087G>A (p.Glu1029=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 2647137	NM_000135.4(FANCA):c.2965A>G (p.Met989Val)	FANCA (M989V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 845257	NM_000135.4(FANCA):c.2959G>A (p.Ala987Thr)	FANCA (A987T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 134261	NM_000135.4(FANCA):c.2944A>G (p.Thr982Ala)	FANCA (T982A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1109152	NM_000135.4(FANCA):c.2922C>T (p.Asp974=)	FANCA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 376974	NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu)	FANCA (D953E)	Single nucleotide variant (missense variant)	FANCA-related condition +4 more	GConflicting classifications of pathogenicity
Select item 526433	NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)	FANCA (R951Q)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 838509	NM_000135.4(FANCA):c.2786del (p.Tyr929fs)	FANCA (Y929fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic
Select item 2570960	NM_000135.4(FANCA):c.2785del (p.Tyr929fs)	FANCA (Y929fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 635518	NM_000135.4(FANCA):c.2778+1G>A	FANCA	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 408188	NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter)	FANCA (R917*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group A +2 more	GPathogenic
Select item 425115	NM_000135.4(FANCA):c.2638C>G (p.Arg880Gly)	FANCA, LOC130059837 (R880G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1147224	NM_000135.4(FANCA):c.2613C>A (p.Leu871=)	FANCA, LOC130059837	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 215981	NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro)	FANCA, LOC130059837 (Q869P)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 237041	NM_000135.4(FANCA):c.2602-13CT[2]	FANCA, LOC130059837	Microsatellite (intron variant)	Fanconi anemia complementation group A +3 more	GConflicting classifications of pathogenicity
Select item 134256	NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)	FANCA (S858R)	Single nucleotide variant (missense variant)	FANCA-related condition +4 more	GBenign/Likely benign
Select item 623914	NM_000135.4(FANCA):c.2477C>G (p.Thr826Arg)	FANCA (T826R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1156512	NM_000135.4(FANCA):c.2448G>A (p.Ala816=)	FANCA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 990015	NM_000135.4(FANCA):c.2394C>T (p.Leu798=)	FANCA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 255246	NM_000135.4(FANCA):c.2391G>A (p.Ala797=)	FANCA	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1319525	NM_000135.4(FANCA):c.2247C>G (p.Phe749Leu)	FANCA (F749L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025630	NM_000135.4(FANCA):c.2223-133T>G	FANCA	Single nucleotide variant (intron variant)	not provided +1 more	GLikely 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 1298686	NM_000135.4(FANCA):c.2201C>T (p.Ser734Phe)	FANCA (S734F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 647229	NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn)	FANCA (D694N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 456090	NM_000135.4(FANCA):c.1900+7T>A	FANCA	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 265136	NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)	FANCA (C625S)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 237037	NM_000135.4(FANCA):c.1830A>G (p.Ala610=)	FANCA	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
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 1005122	NM_000135.4(FANCA):c.1803G>A (p.Val601=)	FANCA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 557990	NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter)	FANCA (R591*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1176672	NM_000135.4(FANCA):c.1663A>C (p.Ile555Leu)	FANCA (I555L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1013114	NM_000135.4(FANCA):c.1615G>A (p.Asp539Asn)	FANCA (D539N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 701196	NM_000135.4(FANCA):c.1614G>A (p.Gly538=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 1084401	NM_000135.4(FANCA):c.1593C>T (p.Tyr531=)	FANCA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 546780	NM_000135.4(FANCA):c.1567-1G>T	FANCA	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 701331	NM_000135.4(FANCA):c.1536A>C (p.Ser512=)	FANCA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2647138	NM_000135.4(FANCA):c.1410G>A (p.Leu470=)	FANCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3440	NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)	FANCA (V372fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic
Select item 526485	NM_000135.4(FANCA):c.1047G>A (p.Ala349=)	FANCA	Single nucleotide variant (synonymous variant)	FANCA-related condition +3 more	GBenign/Likely benign
Select item 558653	NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs)	FANCA (E345fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 134240	NM_000135.4(FANCA):c.932T>C (p.Ile311Thr)	FANCA (I311T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1176673	NM_000135.4(FANCA):c.893+58A>T	FANCA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 871227	NM_000135.4(FANCA):c.893+5G>C	FANCA	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 552738	NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)	FANCA (Q286* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 698615	NM_000135.4(FANCA):c.837C>T (p.Asp279=)	FANCA	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2647139	NM_000135.4(FANCA):c.768T>A (p.Thr256=)	FANCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 623915	NM_000135.4(FANCA):c.744dup (p.Lys249fs)	FANCA (K249fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 237055	NM_000135.4(FANCA):c.694A>C (p.Arg232=)	FANCA	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 703443	NM_000135.4(FANCA):c.687C>T (p.Asp229=)	FANCA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2647140	NM_000135.4(FANCA):c.522+6T>C	FANCA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1116746	NM_000135.4(FANCA):c.483C>T (p.Phe161=)	FANCA	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 1673791	NM_000135.4(FANCA):c.459G>A (p.Gln153=)	FANCA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1335236	NM_000135.4(FANCA):c.454G>C (p.Ala152Pro)	FANCA (A152P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 408185	NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)	FANCA (T126R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 557994	NM_000135.4(FANCA):c.189+1G>A	FANCA	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 1662895	NM_000135.4(FANCA):c.183G>A (p.Leu61=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 526481	NM_000135.4(FANCA):c.169C>T (p.Leu57=)	FANCA	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GLikely benign
Select item 237036	NM_000135.4(FANCA):c.157A>C (p.Ser53Arg)	FANCA (S53R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2647141	NM_000135.4(FANCA):c.79+58C>T	FANCA, LOC112486223	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2582951	GRCh37/hg19 16q24.3(chr16:89815067-89883023)x1	FANCA	Copy number loss	not provided	GPathogenic
Select item 872060	GRCh37/hg19 16q24.3(chr16:89869667-89874775)x1	FANCA	Copy number loss	not provided	GPathogenic

ClinVar

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Items: 93