C3469526[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 418190	NM_022725.4(FANCF):c.1087C>T (p.Gln363Ter)	FANCF, LOC130005443 (Q363*)	Single nucleotide variant (nonsense)	Fanconi anemia +3 more	GUncertain significance
Select item 877895	NM_022725.4(FANCF):c.1063C>T (p.Arg355Cys)	FANCF, LOC130005443 (R355C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F	GUncertain significance
Select item 1053615	NM_022725.4(FANCF):c.992C>T (p.Thr331Ile)	FANCF, LOC130005443 (T331I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1376822	NM_022725.4(FANCF):c.952C>T (p.Pro318Ser)	FANCF, LOC130005443 (P318S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 567023	NM_022725.4(FANCF):c.936A>T (p.Gln312His)	FANCF (Q312H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 304201	NM_022725.4(FANCF):c.860A>G (p.Tyr287Cys)	FANCF (Y287C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1001967	NM_022725.4(FANCF):c.821A>C (p.Tyr274Ser)	FANCF (Y274S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +1 more	GUncertain significance
Select item 565869	NM_022725.4(FANCF):c.795C>A (p.Ser265Arg)	FANCF (S265R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +1 more	GUncertain significance
Select item 1382523	NM_022725.4(FANCF):c.705A>C (p.Gln235His)	FANCF (Q235H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +1 more	GUncertain significance
Select item 1691927	NM_022725.4(FANCF):c.688C>T (p.Pro230Ser)	FANCF (P230S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +1 more	GUncertain significance
Select item 878062	NM_022725.4(FANCF):c.680A>G (p.His227Arg)	FANCF (H227R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +1 more	GUncertain significance
Select item 435150	NM_022725.4(FANCF):c.647G>C (p.Arg216Pro)	FANCF (R216P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 659459	NM_022725.4(FANCF):c.637C>T (p.Pro213Ser)	FANCF (P213S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 252737	NM_022725.4(FANCF):c.633G>T (p.Gln211His)	FANCF (Q211H)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 1007553	NM_022725.4(FANCF):c.617C>T (p.Ala206Val)	FANCF (A206V)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1039214	NM_022725.4(FANCF):c.583C>A (p.Arg195Ser)	FANCF (R195S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +1 more	GUncertain significance
Select item 456284	NM_022725.4(FANCF):c.573C>G (p.Ser191Arg)	FANCF (S191R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +4 more	GConflicting classifications of pathogenicity
Select item 662729	NM_022725.4(FANCF):c.489G>C (p.Met163Ile)	FANCF (M163I)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 998327	NM_022725.4(FANCF):c.452A>T (p.Tyr151Phe)	FANCF (Y151F)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 408148	NM_022725.4(FANCF):c.446A>G (p.Asn149Ser)	FANCF (N149S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +1 more	GUncertain significance
Select item 1002405	NM_022725.4(FANCF):c.433A>G (p.Met145Val)	FANCF (M145V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +1 more	GUncertain significance
Select item 1373268	NM_022725.4(FANCF):c.419G>A (p.Arg140Gln)	FANCF (R140Q)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 134348	NM_022725.4(FANCF):c.385C>G (p.Leu129Val)	FANCF (L129V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +3 more	GUncertain significance
Select item 938869	NM_022725.4(FANCF):c.380A>G (p.Glu127Gly)	FANCF (E127G)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1436499	NM_022725.4(FANCF):c.370G>T (p.Ala124Ser)	FANCF (A124S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 970279	NM_022725.4(FANCF):c.364C>G (p.Arg122Gly)	FANCF (R122G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 964253	NM_022725.4(FANCF):c.332T>C (p.Leu111Pro)	FANCF (L111P)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 591962	NM_022725.4(FANCF):c.318_319delinsCC (p.Ala107Pro)	FANCF (A107P)	Indel (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1445791	NM_022725.4(FANCF):c.302G>C (p.Arg101Pro)	FANCF (R101P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +2 more	GUncertain significance
Select item 6340	NM_022725.4(FANCF):c.230_252del (p.Val77fs)	FANCF	Deletion (frameshift variant)	Fanconi anemia complementation group F +1 more	GPathogenic
Select item 241437	NM_022725.4(FANCF):c.241G>T (p.Ala81Ser)	FANCF (A81S)	Single nucleotide variant (missense variant)	Hereditary cancer +4 more	GConflicting classifications of pathogenicity
Select item 648667	NM_022725.4(FANCF):c.211G>A (p.Gly71Ser)	FANCF (G71S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 576019	NM_022725.4(FANCF):c.149G>C (p.Arg50Pro)	FANCF (R50P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +2 more	GUncertain significance
Select item 1507328	NM_022725.4(FANCF):c.119A>G (p.Tyr40Cys)	FANCF (Y40C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +1 more	GUncertain significance
Select item 1500952	NM_022725.4(FANCF):c.104T>G (p.Leu35Trp)	FANCF (L35W)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 304208	NM_022725.4(FANCF):c.101C>T (p.Ala34Val)	FANCF (A34V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 965327	NM_022725.4(FANCF):c.91G>A (p.Val31Met)	FANCF (V31M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1056405	NM_022725.4(FANCF):c.89C>G (p.Thr30Ser)	FANCF (T30S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 929561	NM_022725.4(FANCF):c.84del (p.Ala29fs)	FANCF (A29fs)	Deletion (frameshift variant)	Fanconi anemia complementation group F +1 more	GPathogenic
Select item 1001623	NM_022725.4(FANCF):c.83C>G (p.Pro28Arg)	FANCF (P28R)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 408147	NM_022725.4(FANCF):c.67G>T (p.Val23Phe)	FANCF (V23F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +1 more	GUncertain significance
Select item 840716	NM_022725.4(FANCF):c.62C>G (p.Thr21Ser)	FANCF (T21S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 933961	NM_022725.4(FANCF):c.58A>G (p.Thr20Ala)	FANCF (T20A)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 456282	NM_022725.4(FANCF):c.14T>C (p.Leu5Pro)	FANCF (L5P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +2 more	GUncertain significance
Select item 304210	NM_022725.3(FANCF):c.-21A>G	FANCF	Single nucleotide variant	Fanconi anemia complementation group F	GUncertain significance

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Items: 45