"Ambry Genetics"[submitter] AND "FANCI"[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3092820	NM_001113378.2(FANCI):c.25G>T (p.Ala9Ser)	FANCI (A9S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3277671	NM_001113378.2(FANCI):c.119G>A (p.Gly40Glu)	FANCI (G40E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2160880	NM_001113378.2(FANCI):c.205T>C (p.Tyr69His)	FANCI (Y69H)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 3092821	NM_001113378.2(FANCI):c.284T>C (p.Leu95Pro)	FANCI (L95P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277673	NM_001113378.2(FANCI):c.295C>G (p.His99Asp)	FANCI (H99D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243849	NM_001113378.2(FANCI):c.317T>A (p.Val106Asp)	FANCI (V106D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 649239	NM_001113378.2(FANCI):c.329A>G (p.Asn110Ser)	FANCI (N110S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2254018	NM_001113378.2(FANCI):c.506G>T (p.Trp169Leu)	FANCI (W169L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 456223	NM_001113378.2(FANCI):c.601A>G (p.Met201Val)	FANCI (M201V +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 3277672	NM_001113378.2(FANCI):c.685G>T (p.Val229Phe)	FANCI (V136F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1439567	NM_001113378.2(FANCI):c.716C>T (p.Ala239Val)	FANCI (A146V +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +3 more	GUncertain significance
Select item 2539389	NM_001113378.2(FANCI):c.1046T>G (p.Phe349Cys)	FANCI (F256C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 886652	NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu)	FANCI (Q351L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2271036	NM_001113378.2(FANCI):c.1240C>T (p.Pro414Ser)	FANCI (P414S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 1013636	NM_001113378.2(FANCI):c.1374T>A (p.His458Gln)	FANCI (H365Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1337341	NM_001113378.2(FANCI):c.1481A>G (p.Gln494Arg)	FANCI (Q401R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 3092815	NM_001113378.2(FANCI):c.1505C>T (p.Ala502Val)	FANCI (A409V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092816	NM_001113378.2(FANCI):c.1555C>G (p.Leu519Val)	FANCI (L519V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092817	NM_001113378.2(FANCI):c.1630C>G (p.Leu544Val)	FANCI (L544V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1432454	NM_001113378.2(FANCI):c.1657C>A (p.Leu553Met)	FANCI (L460M +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 2332608	NM_001113378.2(FANCI):c.1721A>G (p.His574Arg)	FANCI (H574R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3092818	NM_001113378.2(FANCI):c.2147G>A (p.Ser716Asn)	FANCI (S623N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269902	NM_001113378.2(FANCI):c.2261T>C (p.Ile754Thr)	FANCI (I754T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550193	NM_001113378.2(FANCI):c.2286T>A (p.Ser762Arg)	FANCI (S762R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 835139	NM_001113378.2(FANCI):c.2341C>A (p.Leu781Ile)	FANCI (L688I +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 435158	NM_001113378.2(FANCI):c.2349C>A (p.Asp783Glu)	FANCI (D783E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2357397	NM_001113378.2(FANCI):c.2357A>T (p.Asn786Ile)	FANCI (N786I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223334	NM_001113378.2(FANCI):c.2507A>T (p.Asn836Ile)	FANCI (N836I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1420835	NM_001113378.2(FANCI):c.2543A>G (p.Gln848Arg)	FANCI (Q755R +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group I +2 more	GUncertain significance
Select item 2198433	NM_001113378.2(FANCI):c.2564A>G (p.Glu855Gly)	FANCI (E762G +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 2260233	NM_001113378.2(FANCI):c.2681A>G (p.Glu894Gly)	FANCI (E894G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 969376	NM_001113378.2(FANCI):c.2687G>C (p.Gly896Ala)	FANCI (G803A +2 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 3277674	NM_001113378.2(FANCI):c.2759A>G (p.Gln920Arg)	FANCI (Q860R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 408234	NM_001113378.2(FANCI):c.2813A>G (p.Asp938Gly)	FANCI (D938G +2 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 3092823	NM_001113378.2(FANCI):c.2897T>C (p.Leu966Ser)	FANCI (L966S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 696835	NM_001113378.2(FANCI):c.3114G>A (p.Ser1038=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GLikely benign
Select item 3277675	NM_001113378.2(FANCI):c.3159C>G (p.Ile1053Met)	FANCI (I1053M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488515	NM_001113378.2(FANCI):c.3197T>C (p.Val1066Ala)	FANCI (V1006A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1054001	NM_001113378.2(FANCI):c.3271C>G (p.Gln1091Glu)	FANCI (Q1031E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1407262	NM_001113378.2(FANCI):c.3309C>G (p.Ile1103Met)	FANCI (I1010M +2 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 526343	NM_001113378.2(FANCI):c.3377C>G (p.Pro1126Arg)	FANCI (P1126R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 435163	NM_001113378.2(FANCI):c.3419C>T (p.Thr1140Ile)	FANCI (T1140I +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 581189	NM_001113378.2(FANCI):c.3499T>G (p.Cys1167Gly)	FANCI (C1167G +2 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +2 more	GUncertain significance
Select item 2336776	NM_001113378.2(FANCI):c.3533G>C (p.Arg1178Thr)	FANCI (R1178T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092824	NM_001113378.2(FANCI):c.3652A>T (p.Asn1218Tyr)	FANCI (N1158Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1675074	NM_001113378.2(FANCI):c.3709G>C (p.Ala1237Pro)	FANCI (A1144P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3092825	NM_001113378.2(FANCI):c.3777G>C (p.Gln1259His)	FANCI (Q1199H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551986	NM_001113378.2(FANCI):c.3807G>T (p.Lys1269Asn)	FANCI (K1176N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1401955	NM_001113378.2(FANCI):c.3835A>G (p.Met1279Val)	FANCI (M1279V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 21316	NM_002693.3(POLG):c.3708G>T (p.Gln1236His)	FANCI, POLG (Q1236H)	Single nucleotide variant (missense variant +1 more)	not provided +12 more	GBenign/Likely benign
Select item 2482465	NM_002693.3(POLG):c.3705C>G (p.Ser1235Arg)	FANCI, POLG (S1235R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 138767	NM_002693.3(POLG):c.3700C>A (p.Arg1234=)	FANCI, POLG	Single nucleotide variant (synonymous variant +1 more)	Progressive sclerosing poliodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 458718	NM_002693.3(POLG):c.3667A>G (p.Ile1223Val)	FANCI, POLG (I1223V)	Single nucleotide variant (missense variant +1 more)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 21312	NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)	FANCI, POLG (E1143G)	Single nucleotide variant (missense variant)	Mitochondrial disease	GBenign FDA Recognized database
Select item 129993	NM_002693.3(POLG):c.2958C>T (p.Tyr986=)	POLG, FANCI	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +6 more	GBenign/Likely benign

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Items: 56