"Fulgent Genetics, Fulgent Genetics"[submitter] AND "FAN1"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1361869	NM_014967.5(FAN1):c.1A>G (p.Met1Val)	FAN1 (M1V)	Single nucleotide variant (missense variant +1 more)	Karyomegalic interstitial nephritis +1 more	GUncertain significance
Select item 1586655	NM_014967.5(FAN1):c.174G>A (p.Arg58=)	FAN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1179186	NM_014967.5(FAN1):c.332del (p.Pro111fs)	FAN1 (P111fs)	Deletion (frameshift variant)	Karyomegalic interstitial nephritis	GLikely pathogenic
Select item 1498865	NM_014967.5(FAN1):c.877G>T (p.Val293Phe)	FAN1 (V293F)	Single nucleotide variant (missense variant)	Karyomegalic interstitial nephritis +1 more	GUncertain significance
Select item 421580	NM_014967.5(FAN1):c.922_923del (p.Val308fs)	FAN1 (V308fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 373299	NM_014967.5(FAN1):c.1090A>C (p.Asn364His)	FAN1 (N364H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 741730	NM_014967.5(FAN1):c.1350G>A (p.Leu450=)	FAN1	Single nucleotide variant (synonymous variant)	Karyomegalic interstitial nephritis +1 more	GLikely benign
Select item 1179198	NM_014967.5(FAN1):c.1702C>T (p.Gln568Ter)	FAN1 (Q568*)	Single nucleotide variant (nonsense)	Karyomegalic interstitial nephritis	GPathogenic
Select item 1218283	NM_014967.5(FAN1):c.1851C>T (p.Ser617=)	FAN1	Single nucleotide variant (synonymous variant)	Karyomegalic interstitial nephritis +1 more	GBenign/Likely benign
Select item 817020	NM_014967.5(FAN1):c.1899del (p.Cys633fs)	FAN1 (C633fs)	Deletion (frameshift variant)	Karyomegalic interstitial nephritis +1 more	GPathogenic/Likely pathogenic
Select item 1533479	NM_014967.5(FAN1):c.2052+16C>G	FAN1, MTMR10	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 709277	NM_014967.5(FAN1):c.2071G>C (p.Glu691Gln)	FAN1, MTMR10 (E691Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 723570	NM_014967.5(FAN1):c.2118A>C (p.Arg706=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 37097	NM_014967.5(FAN1):c.2245C>T (p.Arg749Ter)	FAN1, MTMR10 (R749*)	Single nucleotide variant (nonsense)	Karyomegalic interstitial nephritis +1 more	GPathogenic
Select item 1322866	NM_014967.5(FAN1):c.2264del (p.Glu755fs)	FAN1, MTMR10 (E755fs)	Deletion (frameshift variant)	Karyomegalic interstitial nephritis	GPathogenic/Likely pathogenic
Select item 797168	NM_014967.5(FAN1):c.2271G>A (p.Pro757=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 728513	NM_014967.5(FAN1):c.2433G>C (p.Leu811=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	Karyomegalic interstitial nephritis +1 more	GLikely benign
Select item 1344663	NM_014967.5(FAN1):c.2590C>T (p.Gln864Ter)	FAN1, MTMR10 (Q864*)	Single nucleotide variant (nonsense)	Karyomegalic interstitial nephritis	GPathogenic
Select item 437429	NM_014967.5(FAN1):c.2616del (p.Asp873fs)	MTMR10, FAN1 (D873fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 731463	NM_014967.5(FAN1):c.2763C>T (p.Arg921=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	Karyomegalic interstitial nephritis +1 more	GLikely benign
Select item 37100	NM_014967.5(FAN1):c.2774_2775del (p.Leu925fs)	FAN1, MTMR10 (L925fs)	Deletion (frameshift variant)	Karyomegalic interstitial nephritis	GPathogenic
Select item 735330	NM_014967.5(FAN1):c.2805G>C (p.Leu935=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 728233	NM_014967.5(FAN1):c.2862T>C (p.Cys954=)	MTMR10, FAN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign

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Items: 23