ClinVar for MedGen (Select 766688) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441339	NM_014967.5(FAN1):c.2854C>T (p.Arg952Ter)	FAN1, MTMR10 (R952*)	Single nucleotide variant (nonsense)	Karyomegalic interstitial nephritis	GUncertain significance
Select item 2441338	NM_014967.5(FAN1):c.2171C>T (p.Pro724Leu)	MTMR10, FAN1 (P724L)	Single nucleotide variant (missense variant)	Karyomegalic interstitial nephritis	GUncertain significance
Select item 2440211	NM_014967.5(FAN1):c.560_561del (p.Thr187fs)	FAN1 (T187fs)	Microsatellite (frameshift variant)	Karyomegalic interstitial nephritis	GLikely pathogenic
Select item 2168694	NM_014967.5(FAN1):c.1184T>C (p.Leu395Pro)	FAN1 (L395P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1533479	NM_014967.5(FAN1):c.2052+16C>G	FAN1, MTMR10	Single nucleotide variant (intron variant)	Karyomegalic interstitial nephritis +1 more	GBenign/Likely benign
Select item 1498865	NM_014967.5(FAN1):c.877G>T (p.Val293Phe)	FAN1 (V293F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1361869	NM_014967.5(FAN1):c.1A>G (p.Met1Val)	FAN1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 1322866	NM_014967.5(FAN1):c.2264del (p.Glu755fs)	FAN1, MTMR10 (E755fs)	Deletion (frameshift variant)	Karyomegalic interstitial nephritis	GPathogenic/Likely pathogenic
Select item 1241902	NM_014967.5(FAN1):c.2488+22T>C	FAN1, MTMR10	Single nucleotide variant (intron variant)	Karyomegalic interstitial nephritis +1 more	GBenign
Select item 1218283	NM_014967.5(FAN1):c.1851C>T (p.Ser617=)	FAN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely 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 1179186	NM_014967.5(FAN1):c.332del (p.Pro111fs)	FAN1 (P111fs)	Deletion (frameshift variant)	Karyomegalic interstitial nephritis	GLikely pathogenic
Select item 1033719	NM_017762.3(MTMR10):c.1982_1984del (p.Tyr661del)	MTMR10, FAN1 (Y661del)	Deletion (3 prime UTR variant +1 more)	Karyomegalic interstitial nephritis	GUncertain significance
Select item 975079	NM_014967.5(FAN1):c.2086C>T (p.Gln696Ter)	FAN1, MTMR10 (Q696*)	Single nucleotide variant (nonsense)	Karyomegalic interstitial nephritis	GLikely pathogenic
Select item 973638	NM_014967.5(FAN1):c.256_257del (p.Met86fs)	FAN1 (M86fs)	Deletion (frameshift variant)	Karyomegalic interstitial nephritis	GPathogenic
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 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 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 735330	NM_014967.5(FAN1):c.2805G>C (p.Leu935=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	Karyomegalic interstitial nephritis +1 more	GLikely benign
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 728513	NM_014967.5(FAN1):c.2433G>C (p.Leu811=)	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=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	FAN1-related condition +2 more	GBenign/Likely benign
Select item 723570	NM_014967.5(FAN1):c.2118A>C (p.Arg706=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	Karyomegalic interstitial nephritis +1 more	GLikely benign
Select item 709277	NM_014967.5(FAN1):c.2071G>C (p.Glu691Gln)	FAN1, MTMR10 (E691Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 619975	NM_014967.5(FAN1):c.1520G>A (p.Arg507His)	FAN1 (R507H)	Single nucleotide variant (missense variant)	Karyomegalic interstitial nephritis +1 more	GConflicting classifications of pathogenicity
Select item 437429	NM_014967.5(FAN1):c.2616del (p.Asp873fs)	FAN1, MTMR10 (D873fs)	Deletion (frameshift variant)	Karyomegalic interstitial nephritis +1 more	GPathogenic
Select item 437428	NM_014967.5(FAN1):c.1102C>T (p.Gln368Ter)	FAN1 (Q368*)	Single nucleotide variant (nonsense)	Karyomegalic interstitial nephritis	GPathogenic
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)	FAN1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 260492	NM_014967.5(FAN1):c.698G>A (p.Gly233Glu)	FAN1 (G233E)	Single nucleotide variant (missense variant)	Karyomegalic interstitial nephritis +2 more	GBenign
Select item 260491	NM_014967.5(FAN1):c.3015T>C (p.His1005=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 191052	NM_014967.5(FAN1):c.93T>G (p.Ile31Met)	FAN1 (I31M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 37101	NM_014967.5(FAN1):c.2809G>C (p.Gly937Arg)	FAN1, MTMR10	Single nucleotide variant (missense variant)	Karyomegalic interstitial nephritis	GPathogenic
Select item 37100	NM_014967.5(FAN1):c.2774_2775del (p.Leu925fs)	FAN1, MTMR10 (L925fs)	Deletion (frameshift variant)	Karyomegalic interstitial nephritis	GPathogenic
Select item 37099	NM_014967.5(FAN1):c.1375+1G>A	FAN1	Single nucleotide variant (splice donor variant)	Karyomegalic interstitial nephritis	GPathogenic
Select item 37097	NM_014967.5(FAN1):c.2245C>T (p.Arg749Ter)	FAN1, MTMR10 (R749*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 37096	NM_014967.5(FAN1):c.2036_2037del (p.Arg679fs)	FAN1, MTMR10 (R679fs)	Microsatellite (frameshift variant)	Karyomegalic interstitial nephritis	GPathogenic
Select item 37095	NM_014967.5(FAN1):c.1234+2T>A	FAN1	Single nucleotide variant (splice donor variant)	Karyomegalic interstitial nephritis	GPathogenic
Select item 37094	NM_014967.5(FAN1):c.2120G>A (p.Trp707Ter)	FAN1, MTMR10 (W707*)	Single nucleotide variant (nonsense)	Karyomegalic interstitial nephritis	GPathogenic

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Items: 41