"Institute for Clinical Genetics, University Hospital TU Dresden, Univ - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1319325	NM_001113378.2(FANCI):c.5A>T (p.Asp2Val)	FANCI (D2V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 449021	NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr)	FANCI (I275T +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +3 more	GConflicting classifications of pathogenicity
Select item 1319718	NM_001113378.2(FANCI):c.1273A>G (p.Ile425Val)	FANCI (I332V +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +2 more	GUncertain significance
Select item 408243	NM_001113378.2(FANCI):c.1412C>G (p.Pro471Arg)	FANCI (P471R +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +2 more	GUncertain significance
Select item 1319330	NM_001113378.2(FANCI):c.1442T>G (p.Val481Gly)	FANCI (V388G +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
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 1319329	NM_001113378.2(FANCI):c.1635G>T (p.Lys545Asn)	FANCI (K452N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319717	NM_001113378.2(FANCI):c.1699-11C>T	FANCI	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 456205	NM_001113378.2(FANCI):c.2203A>G (p.Ile735Val)	FANCI (I735V +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1319328	NM_001113378.2(FANCI):c.2462G>A (p.Ser821Asn)	FANCI (S728N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 408253	NM_001113378.2(FANCI):c.2507A>G (p.Asn836Ser)	FANCI (N836S +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +4 more	GConflicting classifications of pathogenicity
Select item 1319327	NM_001113378.2(FANCI):c.2669C>T (p.Thr890Ile)	FANCI (T797I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 317290	NM_001113378.2(FANCI):c.3103C>T (p.Leu1035=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group I +2 more	GConflicting classifications of pathogenicity
Select item 1319326	NM_001113378.2(FANCI):c.3537+3_3537+6del	FANCI	Deletion (splice donor variant)	not provided +1 more	GUncertain significance
Select item 317297	NM_001113378.2(FANCI):c.3721G>A (p.Ala1241Thr)	FANCI (A1241T +2 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 317301	NM_001113378.2(FANCI):c.3896G>T (p.Arg1299Leu)	FANCI (R1299L +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 526317	NM_001113378.2(FANCI):c.3900G>C (p.Glu1300Asp)	FANCI (E1300D +2 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
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