"FANCI-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3053965	NM_001113378.2(FANCI):c.-2C>A	FANCI	Single nucleotide variant (5 prime UTR variant)	FANCI-related disorder	GLikely benign
Select item 317259	NM_001113378.2(FANCI):c.288+10C>T	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia complementation group I +2 more	GConflicting classifications of pathogenicity
Select item 317261	NM_001113378.2(FANCI):c.467G>A (p.Cys156Tyr)	FANCI (C156Y +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +2 more	GConflicting classifications of pathogenicity
Select item 1397747	NM_001113378.2(FANCI):c.511C>T (p.Gln171Ter)	FANCI (Q78* +1 more)	Single nucleotide variant (nonsense)	FANCI-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2733903	NM_001113378.2(FANCI):c.660C>G (p.Leu220=)	FANCI	Single nucleotide variant (synonymous variant)	FANCI-related disorder +1 more	GLikely benign
Select item 2015154	NM_001113378.2(FANCI):c.1051C>T (p.Gln351Ter)	FANCI (Q351* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 3044847	NM_001113378.2(FANCI):c.1059A>T (p.Leu353=)	FANCI	Single nucleotide variant (synonymous variant)	FANCI-related disorder	GLikely benign
Select item 317269	NM_001113378.2(FANCI):c.1111A>G (p.Ser371Gly)	FANCI (S371G +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +2 more	GConflicting classifications of pathogenicity
Select item 317273	NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group I +2 more	GBenign/Likely benign
Select item 3058583	NM_001113378.2(FANCI):c.1381+9C>T	FANCI	Single nucleotide variant (intron variant)	FANCI-related disorder	GLikely benign
Select item 317277	NM_001113378.2(FANCI):c.1491A>G (p.Gln497=)	FANCI	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 695792	NM_001113378.2(FANCI):c.1557T>C (p.Leu519=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 238309	NM_001113378.2(FANCI):c.1573A>G (p.Met525Val)	FANCI (M525V +1 more)	Single nucleotide variant (missense variant)	FANCI-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 526471	NM_001113378.2(FANCI):c.1703A>G (p.His568Arg)	FANCI (H568R +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +2 more	GConflicting classifications of pathogenicity
Select item 414870	NM_001113378.2(FANCI):c.1704T>C (p.His568=)	FANCI	Single nucleotide variant (synonymous variant)	FANCI-related disorder +1 more	GLikely benign
Select item 664424	NM_001113378.2(FANCI):c.1891-3C>T	FANCI	Single nucleotide variant (intron variant)	FANCI-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 526435	NM_001113378.2(FANCI):c.1939T>C (p.Leu647=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group I +3 more	GConflicting classifications of pathogenicity
Select item 414868	NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg)	FANCI (G655R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 456200	NM_001113378.2(FANCI):c.1992+10T>C	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia complementation group I +2 more	GLikely benign
Select item 210986	NM_001113378.2(FANCI):c.2487T>G (p.Leu829=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia +4 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)	FANCI-related disorder +4 more	GBenign/Likely benign
Select item 317289	NM_001113378.2(FANCI):c.2856T>A (p.Thr952=)	FANCI	Single nucleotide variant (synonymous variant)	FANCI-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3053608	NM_001113378.2(FANCI):c.3006+6A>C	FANCI	Single nucleotide variant (intron variant)	FANCI-related disorder	GLikely benign
Select item 566139	NM_001113378.2(FANCI):c.3056G>A (p.Arg1019Gln)	FANCI (R1019Q +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 238321	NM_001113378.2(FANCI):c.3236C>T (p.Thr1079Met)	FANCI (T1079M +2 more)	Single nucleotide variant (missense variant)	FANCI-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 317291	NM_001113378.2(FANCI):c.3237G>A (p.Thr1079=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 1112770	NM_001113378.2(FANCI):c.3256-9_3256-8del	FANCI	Deletion (intron variant)	FANCI-related disorder +1 more	GLikely benign
Select item 2632246	NM_001113378.2(FANCI):c.3376C>T (p.Pro1126Ser)	FANCI (P1033S +2 more)	Single nucleotide variant (missense variant)	FANCI-related disorder	GUncertain significance
Select item 3031946	NM_001113378.2(FANCI):c.3645C>G (p.Tyr1215Ter)	FANCI (Y1122* +2 more)	Single nucleotide variant (nonsense)	FANCI-related disorder	GLikely pathogenic
Select item 526499	NM_001113378.2(FANCI):c.3652-10A>G	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia complementation group I +2 more	GConflicting classifications of pathogenicity
Select item 414872	NM_001113378.2(FANCI):c.3660T>C (p.Ser1220=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group I +3 more	GConflicting classifications of pathogenicity
Select item 702513	NM_001113378.2(FANCI):c.3720+10T>C	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 456219	NM_001113378.2(FANCI):c.3865A>G (p.Ile1289Val)	FANCI (I1289V +2 more)	Single nucleotide variant (missense variant)	FANCI-related disorder +3 more	GBenign/Likely benign

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Items: 33