"PreventionGenetics, part of Exact Sciences"[submitter] AND "FANCI"[ge - ClinVar

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Items: 61

	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 257480	NM_001113378.2(FANCI):c.164C>T (p.Pro55Leu)	FANCI (P55L)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group I +3 more	GBenign
Select item 257484	NM_001113378.2(FANCI):c.257C>T (p.Ala86Val)	FANCI (A86V)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group I +3 more	GBenign
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 257486	NM_001113378.2(FANCI):c.288+37G>A	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia complementation group I +2 more	GBenign
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 257490	NM_001113378.2(FANCI):c.545+19C>T	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia +3 more	GBenign
Select item 257491	NM_001113378.2(FANCI):c.545+30G>A	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia complementation group I +2 more	GBenign
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 257481	NM_001113378.2(FANCI):c.1698+15C>T	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia complementation group I +3 more	GBenign
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 210985	NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe)	FANCI (L605F +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely 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 +2 more	GLikely benign
Select item 257482	NM_001113378.2(FANCI):c.2225G>C (p.Cys742Ser)	FANCI (C742S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +3 more	GBenign
Select item 257483	NM_001113378.2(FANCI):c.2367G>T (p.Ala789=)	FANCI	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
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 257485	NM_001113378.2(FANCI):c.2629A>T (p.Ile877Leu)	FANCI (I877L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
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 238320	NM_001113378.2(FANCI):c.2997C>T (p.Ser999=)	FANCI	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 3053608	NM_001113378.2(FANCI):c.3006+6A>C	FANCI	Single nucleotide variant (intron variant)	FANCI-related disorder	GLikely benign
Select item 257487	NM_001113378.2(FANCI):c.3006+15A>C	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia complementation group I +3 more	GBenign
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 238326	NM_001113378.2(FANCI):c.3592-8T>C	FANCI	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
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 257488	NM_001113378.2(FANCI):c.3651+19G>A	FANCI	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
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
Select item 257489	NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=)	FANCI, POLG	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group I +4 more	GBenign/Likely benign
Select item 317308	NM_002693.3(POLG):c.*49G>A	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant)	Progressive sclerosing poliodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 317309	NM_002693.3(POLG):c.*44G>C	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant)	POLG-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3054030	NM_002693.3(POLG):c.*42C>T	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant)	POLG-related disorder	GLikely benign
Select item 21316	NM_002693.3(POLG):c.3708G>T (p.Gln1236His)	FANCI, POLG +1 more (Q1236H)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group I +12 more	GBenign/Likely benign
Select item 2749286	NM_002693.3(POLG):c.3666G>A (p.Gln1222=)	POLGARF, POLG +1 more	Single nucleotide variant (synonymous variant +1 more)	POLG-related disorder +1 more	GLikely benign
Select item 1687690	NM_002693.3(POLG):c.3666G>C (p.Gln1222His)	POLG, POLGARF +1 more (Q1222H)	Single nucleotide variant (missense variant +1 more)	POLG-related disorder +1 more	GUncertain significance
Select item 206489	NM_002693.3(POLG):c.3652C>T (p.Leu1218=)	FANCI, POLG +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 696413	NM_002693.3(POLG):c.3644-9_3644-6dup	FANCI, POLG +1 more	Duplication (intron variant +1 more)	Progressive sclerosing poliodystrophy +1 more	GLikely benign
Select item 129998	NM_002693.3(POLG):c.3644-9A>G	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 206488	NM_002693.3(POLG):c.3644-14G>C	POLGARF, FANCI +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 21312	NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)	FANCI, POLG +1 more (E1143G)	Single nucleotide variant (missense variant)	Mitochondrial disease	GBenign FDA Recognized database
Select item 138754	NM_002693.3(POLG):c.3105-11T>C	FANCI, POLG +1 more	Single nucleotide variant (intron variant)	POLG-Related Spectrum Disorders +7 more	GBenign/Likely benign
Select item 129993	NM_002693.3(POLG):c.2958C>T (p.Tyr986=)	FANCI, POLG +1 more	Single nucleotide variant (synonymous variant)	Fanconi anemia +6 more	GBenign/Likely benign

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Items: 61