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

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 221078	NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys)	FANCI (E96K +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 408242	NM_001113378.2(FANCI):c.528A>G (p.Gln176=)	FANCI	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1018446	NM_001113378.2(FANCI):c.712A>G (p.Ser238Gly)	FANCI (S145G +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 2645679	NM_001113378.2(FANCI):c.727C>G (p.Gln243Glu)	FANCI (Q150E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 238330	NM_001113378.2(FANCI):c.753C>T (p.Asp251=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 2996633	NM_001113378.2(FANCI):c.1119T>C (p.His373=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 317272	NM_001113378.2(FANCI):c.1176A>T (p.Ser392=)	FANCI	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 317277	NM_001113378.2(FANCI):c.1491A>G (p.Gln497=)	FANCI	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 238309	NM_001113378.2(FANCI):c.1573A>G (p.Met525Val)	FANCI (M525V +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2645680	NM_001113378.2(FANCI):c.1641T>C (p.Phe547=)	FANCI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 695486	NM_001113378.2(FANCI):c.1749T>C (p.Phe583=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group I +2 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)	not specified +4 more	GBenign/Likely benign
Select item 2645681	NM_001113378.2(FANCI):c.1914A>G (p.Lys638=)	FANCI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1673615	NM_001113378.2(FANCI):c.1954C>T (p.Leu652=)	FANCI	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 872783	NM_001113378.2(FANCI):c.1956G>C (p.Leu652=)	FANCI	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 414868	NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg)	FANCI (G655R +1 more)	Single nucleotide variant (missense variant)	FANCI-related condition +3 more	GConflicting classifications of pathogenicity
Select item 238312	NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val)	FANCI (I671V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2645682	NM_001113378.2(FANCI):c.2209A>G (p.Ile737Val)	FANCI (I644V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 932344	NM_001113378.2(FANCI):c.2457-2A>G	FANCI	Single nucleotide variant (intron variant +1 more)	Fanconi anemia +1 more	GLikely pathogenic
Select item 210986	NM_001113378.2(FANCI):c.2487T>G (p.Leu829=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	FANCI-related condition +4 more	GConflicting classifications of pathogenicity
Select item 238317	NM_001113378.2(FANCI):c.2604A>C (p.Glu868Asp)	FANCI (E868D +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 317287	NM_001113378.2(FANCI):c.2646A>G (p.Leu882=)	FANCI	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 456210	NM_001113378.2(FANCI):c.2817G>T (p.Lys939Asn)	FANCI (K939N +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 238320	NM_001113378.2(FANCI):c.2997C>T (p.Ser999=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 696835	NM_001113378.2(FANCI):c.3114G>A (p.Ser1038=)	FANCI	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 317291	NM_001113378.2(FANCI):c.3237G>A (p.Thr1079=)	FANCI	Single nucleotide variant (synonymous variant)	FANCI-related condition +3 more	GConflicting classifications of pathogenicity
Select item 238322	NM_001113378.2(FANCI):c.3255+6dup	FANCI	Duplication (intron variant)	Fanconi anemia +2 more	GBenign/Likely benign
Select item 238326	NM_001113378.2(FANCI):c.3592-8T>C	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 2645683	NM_001113378.2(FANCI):c.3652-1186T>C	FANCI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1298634	NM_001113378.2(FANCI):c.3721-1G>C	FANCI	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 973	NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter)	FANCI (R1285* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 456219	NM_001113378.2(FANCI):c.3865A>G (p.Ile1289Val)	FANCI (I1289V +2 more)	Single nucleotide variant (missense variant)	FANCI-related condition +3 more	GBenign/Likely benign
Select item 929717	NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter)	FANCI (R1206* +2 more)	Single nucleotide variant (nonsense)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 456221	NM_001113378.2(FANCI):c.3947G>A (p.Gly1316Glu)	FANCI, POLG +1 more (G1316E +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1012862	NM_001113378.2(FANCI):c.3949C>T (p.Gln1317Ter)	FANCI, POLG +1 more (Q1224* +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 317310	NM_002693.3(POLG):c.*30G>A	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2570908	NM_002693.3(POLG):c.3677T>A (p.Leu1226His)	FANCI, POLG +1 more (L1226H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1565004	NM_002693.3(POLG):c.3654G>A (p.Leu1218=)	FANCI, POLG +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1620162	NM_002693.3(POLG):c.3651G>A (p.Ala1217=)	FANCI, POLG +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 206575	NM_002693.3(POLG):c.3650C>T (p.Ala1217Val)	FANCI, POLG +1 more (A1217V)	Single nucleotide variant (missense variant +1 more)	POLG-Related Spectrum Disorders +9 more	GUncertain significance
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	SEC11A, SELENOS +86 more	Copy number gain	not provided	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	ISLR2, MESD +209 more	Copy number gain	not provided	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic

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Items: 43