ClinVar for Gene (Select 22909) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3092777	NM_014967.5(FAN1):c.782C>T (p.Ala261Val)	FAN1 (A261V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3092776	NM_014967.5(FAN1):c.6G>C (p.Met2Ile)	FAN1 (M2I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092775	NM_014967.5(FAN1):c.685C>T (p.His229Tyr)	FAN1 (H229Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092774	NM_014967.5(FAN1):c.651A>T (p.Lys217Asn)	FAN1 (K217N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092773	NM_014967.5(FAN1):c.469T>C (p.Ser157Pro)	FAN1 (S157P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3092763	NM_014967.5(FAN1):c.1640G>A (p.Arg547His)	FAN1 (R547H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092762	NM_014967.5(FAN1):c.1093G>T (p.Gly365Cys)	FAN1 (G365C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063391	GRCh37/hg19 15q11.2-13.3(chr15:23748021-32444261)x1	APBA2, ARHGAP11B +37 more	Copy number loss	not specified	GPathogenic
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063358	GRCh37/hg19 15q13.2-13.3(chr15:30913573-32914239)x1	ARHGAP11A, ARHGAP11B +9 more	Copy number loss	not specified	GPathogenic
Select item 3063348	GRCh37/hg19 15q11.2-13.3(chr15:22770421-32446830)x3	APBA2, ARHGAP11B +42 more	Copy number gain	not specified	GPathogenic
Select item 3062003	GRCh38/hg38 15q11.2-13.3(chr15:22612582-32116118)	APBA2, ARHGAP11B +227 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3061647	NM_014967.5(FAN1):c.585C>G (p.Asn195Lys)	FAN1 (N195K)	Single nucleotide variant (missense variant)	FAN1-related disorder	GUncertain significance
Select item 3061318	NM_014967.5(FAN1):c.1930C>T (p.His644Tyr)	FAN1 (H644Y)	Single nucleotide variant (missense variant)	FAN1-related disorder	GUncertain significance
Select item 3048692	NM_014967.5(FAN1):c.1671A>G (p.Ser557=)	FAN1	Single nucleotide variant (synonymous variant)	FAN1-related disorder	GLikely benign
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 3036652	NM_014967.5(FAN1):c.279C>T (p.Thr93=)	FAN1	Single nucleotide variant (synonymous variant)	FAN1-related disorder	GLikely benign
Select item 3032818	NM_014967.5(FAN1):c.1552G>A (p.Gly518Arg)	FAN1 (G518R)	Single nucleotide variant (missense variant)	FAN1-related disorder	GUncertain significance
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 3032056	NM_014967.5(FAN1):c.1794C>T (p.Asp598=)	FAN1	Single nucleotide variant (synonymous variant)	FAN1-related disorder	GLikely benign
Select item 3029776	NM_014967.5(FAN1):c.1834C>T (p.Leu612=)	FAN1	Single nucleotide variant (synonymous variant)	FAN1-related disorder	GLikely benign
Select item 3024590	GRCh37/hg19 15q13.2-13.3(chr15:30896376-32465219)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	not provided	GPathogenic
Select item 3024589	GRCh37/hg19 15q13.2-13.3(chr15:30844281-32404100)x1	MIR211, ARHGAP11B +7 more	Copy number loss	not provided	GPathogenic
Select item 3023993	NM_014967.5(FAN1):c.1665C>T (p.Thr555=)	FAN1	Single nucleotide variant (synonymous variant)	not provided	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 2995967	NM_014967.5(FAN1):c.1492G>A (p.Asp498Asn)	FAN1 (D498N)	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 2982358	NM_014967.5(FAN1):c.1818A>G (p.Ala606=)	FAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981115	NM_014967.5(FAN1):c.1511C>T (p.Ala504Val)	FAN1 (A504V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979576	NM_014967.5(FAN1):c.1890C>T (p.Leu630=)	FAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969271	NM_014967.5(FAN1):c.828G>A (p.Lys276=)	FAN1	Single nucleotide variant (synonymous variant)	FAN1-related disorder +1 more	GLikely benign
Select item 2964695	NM_014967.5(FAN1):c.2172+17del	MTMR10, FAN1	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 +1 more	GBenign/Likely benign
Select item 2912168	NM_014967.5(FAN1):c.1728G>A (p.Leu576=)	FAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2908327	NM_014967.5(FAN1):c.1734C>T (p.Asn578=)	FAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901809	NM_014967.5(FAN1):c.1836G>T (p.Leu612=)	FAN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2895269	NM_014967.5(FAN1):c.905AAG[1] (p.Glu303del)	FAN1 (E303del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2892803	NM_014967.5(FAN1):c.731C>T (p.Ala244Val)	FAN1 (A244V)	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 2854037	NM_014967.5(FAN1):c.299dup (p.Lys101fs)	FAN1 (K101fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2849137	NM_014967.5(FAN1):c.876_877delinsCT (p.Val293Phe)	FAN1 (V293F)	Indel (missense variant)	not provided	GUncertain significance
Select item 2794386	NM_014967.5(FAN1):c.1578-18A>G	FAN1	Single nucleotide variant (intron 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 +1 more	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 2781153	NM_014967.5(FAN1):c.1063A>T (p.Ile355Phe)	FAN1 (I355F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2715118	NM_014967.5(FAN1):c.363A>G (p.Val121=)	FAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706852	NM_014967.5(FAN1):c.972_973del (p.His324fs)	FAN1 (H324fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2697529	NM_014967.5(FAN1):c.666G>A (p.Lys222=)	FAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2690935	GRCh37/hg19 15q13.2-13.3(chr15:30730511-32914199)x3	ARHGAP11A, ARHGAP11B +11 more	Copy number gain	See cases	GUncertain significance
Select item 2685505	GRCh37/hg19 15q13.3(chr15:31223642-32446830)x1	CHRNA7, FAN1 +5 more	Copy number loss	not provided	GPathogenic
Select item 2684752	GRCh37/hg19 15q13.2-13.3(chr15:30913574-32444196)x3	ARHGAP11B, CHRNA7 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684749	GRCh37/hg19 15q11.2-13.3(chr15:22770422-32915593)x3	APBA2, ARHGAP11A +45 more	Copy number gain	not provided	GPathogenic
Select item 2684748	GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3	ACTC1, APBA2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2672599	GRCh37/hg19 15q13.1-13.3(chr15:29488634-31342785)x1	FAN1, ARHGAP11B +8 more	Copy number loss	not provided	GPathogenic
Select item 2671594	Single allele	APBA2, ARHGAP11B +42 more	Duplication	not provided	GPathogenic
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 2645110	NM_014967.5(FAN1):c.1227G>C (p.Gln409His)	FAN1 (Q409H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645109	NC_000015.10:g.30801393T>C	FAN1	Single nucleotide variant	not provided	GBenign
Select item 2637123	NM_014967.5(FAN1):c.141C>A (p.Cys47Ter)	FAN1 (C47*)	Single nucleotide variant (nonsense)	FAN1-related disorder	GPathogenic
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 2634538	NM_014967.5(FAN1):c.461G>A (p.Ser154Asn)	FAN1 (S154N)	Single nucleotide variant (missense variant)	FAN1-related disorder	GUncertain significance
Select item 2633119	NM_014967.5(FAN1):c.1820C>G (p.Ala607Gly)	FAN1 (A607G)	Single nucleotide variant (missense variant)	FAN1-related disorder	GUncertain significance
Select item 2631856	NM_014967.5(FAN1):c.1733A>G (p.Asn578Ser)	FAN1 (N578S)	Single nucleotide variant (missense variant)	FAN1-related disorder	GUncertain significance
Select item 2630489	NM_014967.5(FAN1):c.418G>T (p.Asp140Tyr)	FAN1 (D140Y)	Single nucleotide variant (missense variant)	FAN1-related disorder	GUncertain significance
Select item 2627559	GRCh37/hg19 15q13.2-13.3(chr15:30653877-32914199)x3	MIR211, MTMR10 +13 more	Copy number gain	See cases	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 2617477	NM_014967.5(FAN1):c.865A>T (p.Ile289Phe)	FAN1 (I289F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614353	NM_014967.5(FAN1):c.51A>T (p.Leu17Phe)	FAN1 (L17F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611495	NM_014967.5(FAN1):c.1603G>A (p.Val535Ile)	FAN1 (V535I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2600379	NM_014967.5(FAN1):c.736C>T (p.Arg246Trp)	FAN1 (R246W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582942	GRCh37/hg19 15q13.2-13.3(chr15:30850147-32404100)x1	KLF13, ARHGAP11B +7 more	Copy number loss	not provided	GPathogenic
Select item 2580334	GRCh37/hg19 15q13.2-13.3(chr15:30854238-32892694)x1	ARHGAP11B, CHRNA7 +9 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2580323	GRCh37/hg19 15q13.2-13.3(chr15:30897996-32442006)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2580311	GRCh37/hg19 15q13.2-13.3(chr15:30850097-32693726)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	See cases	GPathogenic
Select item 2580303	GRCh37/hg19 15q13.2-13.3(chr15:30918974-32442006)x1	MIR211, ARHGAP11B +6 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2580300	GRCh37/hg19 15q13.2-13.3(chr15:30805785-32686484)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
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 2574687	GRCh37/hg19 15q13.2-13.3(chr15:31073735-32446830)	CHRNA7, FAN1 +5 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic

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