Related gene-specific medical variations for Gene (Select 54893) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353710	NM_014967.5(FAN1):c.2685G>A (p.Glu895=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	FAN1-related disorder	GLikely benign
Select item 3353428	NM_014967.5(FAN1):c.2864G>A (p.Arg955Gln)	FAN1, MTMR10 (R955Q)	Single nucleotide variant (missense variant)	FAN1-related disorder	GUncertain significance
Select item 3351968	NM_014967.5(FAN1):c.2059G>A (p.Val687Ile)	FAN1, MTMR10 (V687I)	Single nucleotide variant (missense variant)	FAN1-related disorder	GUncertain significance
Select item 3345497	NM_014967.5(FAN1):c.2802C>A (p.Cys934Ter)	FAN1, MTMR10 (C934*)	Single nucleotide variant (nonsense)	FAN1-related disorder	GLikely pathogenic
Select item 3296670	NM_017762.3(MTMR10):c.2071G>A (p.Val691Ile)	FAN1, MTMR10 (V691I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3296669	NM_017762.3(MTMR10):c.1807C>G (p.Pro603Ala)	FAN1, MTMR10 (P603A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3296668	NM_017762.3(MTMR10):c.1609G>C (p.Val537Leu)	FAN1, MTMR10 (V537L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3277600	NM_014967.5(FAN1):c.2048A>G (p.Tyr683Cys)	FAN1, MTMR10 (Y683C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277595	NM_014967.5(FAN1):c.2917C>T (p.Leu973=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3277593	NM_014967.5(FAN1):c.2687A>G (p.Glu896Gly)	FAN1, MTMR10 (E896G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215790	NM_017762.3(MTMR10):c.2170C>T (p.His724Tyr)	FAN1, MTMR10 (H724Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3215769	NM_017762.3(MTMR10):c.1933A>G (p.Ile645Val)	FAN1, MTMR10 (I645V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3215757	NM_017762.3(MTMR10):c.1763C>G (p.Pro588Arg)	FAN1, MTMR10 (P588R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3092772	NM_014967.5(FAN1):c.2986A>C (p.Lys996Gln)	FAN1, MTMR10 (K996Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092771	NM_014967.5(FAN1):c.2945G>A (p.Arg982His)	FAN1, MTMR10 (R982H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092770	NM_014967.5(FAN1):c.2794G>C (p.Val932Leu)	FAN1, MTMR10 (V932L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092769	NM_014967.5(FAN1):c.2664G>T (p.Gln888His)	FAN1, MTMR10 (Q888H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092768	NM_014967.5(FAN1):c.2641C>T (p.Pro881Ser)	FAN1, MTMR10 (P881S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092766	NM_014967.5(FAN1):c.2228G>A (p.Arg743His)	FAN1, MTMR10 (R743H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092765	NM_014967.5(FAN1):c.2117G>A (p.Arg706Gln)	FAN1, MTMR10 (R706Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092764	NM_014967.5(FAN1):c.2107A>C (p.Ser703Arg)	FAN1, MTMR10 (S703R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046472	NM_014967.5(FAN1):c.2274C>T (p.Ser758=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	FAN1-related disorder	GLikely benign
Select item 3032648	NM_014967.5(FAN1):c.2593-4A>G	FAN1, MTMR10	Single nucleotide variant (intron variant)	FAN1-related disorder	GLikely benign
Select item 3015437	NM_014967.5(FAN1):c.2192A>G (p.Glu731Gly)	FAN1, MTMR10 (E731G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986767	NM_014967.5(FAN1):c.2385T>A (p.Ser795=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964695	NM_014967.5(FAN1):c.2172+17del	FAN1, MTMR10	Deletion (intron variant)	not provided	GLikely benign
Select item 2958988	NM_014967.5(FAN1):c.2338-13G>C	FAN1, MTMR10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958516	NM_014967.5(FAN1):c.2787+17A>G	FAN1, MTMR10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919828	NM_014967.5(FAN1):c.2761C>T (p.Arg921Cys)	FAN1, MTMR10 (R921C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2908815	NM_014967.5(FAN1):c.2937C>T (p.Pro979=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895270	NM_014967.5(FAN1):c.2426C>T (p.Thr809Met)	FAN1, MTMR10 (T809M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883974	NM_014967.5(FAN1):c.2412C>T (p.Ala804=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788142	NM_014967.5(FAN1):c.2577C>T (p.Phe859=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783404	NM_014967.5(FAN1):c.2256C>G (p.Arg752=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2750334	NM_014967.5(FAN1):c.2521C>T (p.Leu841=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645111	NM_017762.3(MTMR10):c.2055G>T (p.Leu685=)	FAN1, MTMR10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2637027	NM_014967.5(FAN1):c.2245C>G (p.Arg749Gly)	FAN1, MTMR10 (R749G)	Single nucleotide variant (missense variant)	FAN1-related disorder	GUncertain significance
Select item 2635664	NM_014967.5(FAN1):c.2906G>T (p.Arg969Leu)	FAN1, MTMR10 (R969L)	Single nucleotide variant (missense variant)	FAN1-related disorder	GUncertain significance
Select item 2634905	NM_014967.5(FAN1):c.2219C>T (p.Thr740Met)	FAN1, MTMR10 (T740M)	Single nucleotide variant (missense variant)	FAN1-related disorder	GUncertain significance
Select item 2634779	NM_014967.5(FAN1):c.2155T>G (p.Leu719Val)	FAN1, MTMR10 (L719V)	Single nucleotide variant (missense variant)	FAN1-related disorder	GUncertain significance
Select item 2620453	NM_014967.5(FAN1):c.2514C>G (p.Phe838Leu)	FAN1, MTMR10 (F838L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609339	NM_017762.3(MTMR10):c.1866C>G (p.Ser622Arg)	FAN1, MTMR10 (S622R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2601453	NM_014967.5(FAN1):c.2632A>G (p.Ser878Gly)	FAN1, MTMR10 (S878G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574796	NM_014967.5(FAN1):c.2418C>G (p.Asp806Glu)	FAN1, MTMR10 (D806E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2556533	NM_014967.5(FAN1):c.2378G>T (p.Cys793Phe)	FAN1, MTMR10 (C793F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2499738	NM_014967.5(FAN1):c.2875C>T (p.Pro959Ser)	MTMR10, FAN1 (P959S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2476197	NM_017762.3(MTMR10):c.2082G>C (p.Arg694Ser)	FAN1, MTMR10 (R694S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2463005	NM_014967.5(FAN1):c.2369G>A (p.Arg790His)	FAN1, MTMR10 (R790H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2457427	NM_017762.3(MTMR10):c.1921C>G (p.Leu641Val)	FAN1, MTMR10 (L641V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2454495	NM_017762.3(MTMR10):c.2090G>A (p.Arg697Gln)	FAN1, MTMR10 (R697Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
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 2399749	NM_017762.3(MTMR10):c.1869G>C (p.Gln623His)	FAN1, MTMR10 (Q623H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2373367	NM_017762.3(MTMR10):c.1645C>T (p.Arg549Cys)	FAN1, MTMR10 (R549C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2354747	NM_017762.3(MTMR10):c.2098C>T (p.Arg700Cys)	FAN1, MTMR10 (R700C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2340329	NM_014967.5(FAN1):c.1988G>T (p.Gly663Val)	FAN1, MTMR10 (G663V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340136	NM_014967.5(FAN1):c.2587T>A (p.Cys863Ser)	FAN1, MTMR10 (C863S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333920	NM_017762.3(MTMR10):c.2105G>C (p.Gly702Ala)	FAN1, MTMR10 (G702A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2330882	NM_014967.5(FAN1):c.2887G>A (p.Val963Met)	FAN1, MTMR10 (V963M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329741	NM_017762.3(MTMR10):c.1562G>A (p.Ser521Asn)	FAN1, MTMR10 (S521N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2300155	NM_014967.5(FAN1):c.2593G>A (p.Ala865Thr)	MTMR10, FAN1 (A865T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274203	NM_014967.5(FAN1):c.2975C>T (p.Ala992Val)	FAN1, MTMR10 (A992V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272301	NM_014967.5(FAN1):c.2638C>T (p.Arg880Cys)	FAN1, MTMR10 (R880C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261412	NM_014967.5(FAN1):c.2827G>A (p.Val943Met)	FAN1, MTMR10 (V943M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248897	NM_014967.5(FAN1):c.2162G>A (p.Arg721His)	FAN1, MTMR10 (R721H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247679	NM_014967.5(FAN1):c.1958T>C (p.Leu653Ser)	FAN1, MTMR10 (L653S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226301	NM_017762.3(MTMR10):c.2007G>C (p.Gln669His)	FAN1, MTMR10 (Q669H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2212872	NM_014967.5(FAN1):c.2359T>C (p.Cys787Arg)	FAN1, MTMR10 (C787R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208567	NM_017762.3(MTMR10):c.2186C>T (p.Ser729Leu)	FAN1, MTMR10 (S729L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2194765	NM_014967.5(FAN1):c.2715G>A (p.Thr905=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192143	NM_014967.5(FAN1):c.2566C>G (p.Pro856Ala)	FAN1, MTMR10 (P856A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182183	NM_014967.5(FAN1):c.2070T>G (p.Leu690=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180207	NM_014967.5(FAN1):c.2714C>T (p.Thr905Met)	FAN1, MTMR10 (T905M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178312	NM_014967.5(FAN1):c.2311G>A (p.Glu771Lys)	FAN1, MTMR10 (E771K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174751	NM_014967.5(FAN1):c.2201C>T (p.Ala734Val)	FAN1, MTMR10 (A734V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2148740	NM_014967.5(FAN1):c.2878G>A (p.Asp960Asn)	FAN1, MTMR10 (D960N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2137641	NM_014967.5(FAN1):c.2128C>T (p.Arg710Ter)	FAN1, MTMR10 (R710*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 2125086	NM_014967.5(FAN1):c.2615C>A (p.Thr872Lys)	FAN1, MTMR10 (T872K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123202	NM_014967.5(FAN1):c.1958dup (p.Leu653fs)	FAN1, MTMR10 (L653fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2064125	NM_014967.5(FAN1):c.2381A>G (p.Lys794Arg)	FAN1, MTMR10 (K794R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063649	NM_014967.5(FAN1):c.2470C>A (p.Arg824Ser)	FAN1, MTMR10 (R824S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2058372	NM_014967.5(FAN1):c.2143T>C (p.Leu715=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1950798	NM_014967.5(FAN1):c.2116C>G (p.Arg706Gly)	FAN1, MTMR10 (R706G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949149	NM_014967.5(FAN1):c.2175T>C (p.Thr725=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1926546	NM_014967.5(FAN1):c.2260C>T (p.Arg754Ter)	FAN1, MTMR10 (R754*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1909194	NM_014967.5(FAN1):c.2488+6T>A	FAN1, MTMR10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1344663	NM_014967.5(FAN1):c.2590C>T (p.Gln864Ter)	FAN1, MTMR10 (Q864*)	Single nucleotide variant (nonsense)	Karyomegalic interstitial nephritis	GPathogenic
Select item 1326105	NM_014967.5(FAN1):c.2787+87_2787+88del	FAN1, MTMR10	Deletion (intron variant)	not provided	GLikely benign
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 1304108	NM_014967.5(FAN1):c.2218A>G (p.Thr740Ala)	FAN1, MTMR10 (T740A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1294545	NM_014967.5(FAN1):c.2489-46TG[22]	FAN1, MTMR10	Microsatellite (intron variant)	not provided	GBenign
Select item 1294542	NM_014967.5(FAN1):c.2787+163_2787+167del	FAN1, MTMR10	Microsatellite (intron variant)	not provided	GBenign
Select item 1291997	NM_014967.5(FAN1):c.2271G>C (p.Pro757=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1289306	NM_014967.5(FAN1):c.2787+250_2787+253del	FAN1, MTMR10	Microsatellite (intron variant)	not provided	GBenign
Select item 1284145	NM_014967.5(FAN1):c.2338-80A>G	FAN1, MTMR10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280660	NM_014967.5(FAN1):c.2337+244C>T	FAN1, MTMR10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279747	NM_014967.5(FAN1):c.2052+45C>T	FAN1, MTMR10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278055	NM_014967.5(FAN1):c.2917-280_2917-271del	FAN1, MTMR10	Deletion (intron variant)	not provided	GBenign
Select item 1273495	NM_014967.5(FAN1):c.2787+275_2787+279del	FAN1, MTMR10	Microsatellite (intron variant)	not provided	GBenign

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