ClinVar for MedGen (Select 463628) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3021619	NM_021922.3(FANCE):c.153C>T (p.Gly51=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 3021048	NM_021922.3(FANCE):c.914T>A (p.Leu305Ter)	FANCE (L305*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group E	GPathogenic
Select item 3020211	NM_021922.3(FANCE):c.207G>T (p.Arg69=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 3019314	NM_021922.3(FANCE):c.159C>G (p.Arg53=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 3017462	NM_021922.3(FANCE):c.265C>A (p.Arg89=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 3015986	NM_021922.3(FANCE):c.465A>G (p.Pro155=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 3015977	NM_021922.3(FANCE):c.134G>A (p.Gly45Glu)	FANCE, LOC129996245 (G45E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 3013625	NM_021922.3(FANCE):c.39C>T (p.Gly13=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 3013609	NM_021922.3(FANCE):c.1494C>T (p.Thr498=)	FANCE	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia complementation group E	GLikely benign
Select item 3008631	NM_021922.3(FANCE):c.1363C>T (p.Gln455Ter)	FANCE (Q455*)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia complementation group E	GPathogenic
Select item 3007114	NM_021922.3(FANCE):c.564A>G (p.Glu188=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 3006141	NM_021922.3(FANCE):c.567G>A (p.Glu189=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 3004167	NM_021922.3(FANCE):c.879_880insT (p.Leu294fs)	FANCE (L294fs)	Insertion (frameshift variant)	Fanconi anemia complementation group E	GPathogenic
Select item 3003797	NM_021922.3(FANCE):c.248+19C>T	LOC129996245, FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 3003572	NM_021922.3(FANCE):c.174C>T (p.Phe58=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 3000094	NM_021922.3(FANCE):c.1332G>A (p.Leu444=)	FANCE	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia complementation group E	GLikely benign
Select item 2999883	NM_021922.3(FANCE):c.1510-6C>T	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2997504	NM_021922.3(FANCE):c.1509+8T>G	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2996984	NM_021922.3(FANCE):c.351G>A (p.Val117=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2995798	NM_021922.3(FANCE):c.525C>T (p.Gly175=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2993718	NM_021922.3(FANCE):c.969+18C>T	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2992890	NM_021922.3(FANCE):c.438G>A (p.Val146=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2992534	NM_021922.3(FANCE):c.51G>T (p.Ala17=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2992250	NM_021922.3(FANCE):c.518dup (p.Arg176fs)	FANCE (R176fs)	Duplication (frameshift variant)	Fanconi anemia complementation group E	GPathogenic
Select item 2985176	NM_021922.3(FANCE):c.192C>G (p.Leu64=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2984063	NM_021922.3(FANCE):c.1464C>G (p.Ala488=)	FANCE	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia complementation group E	GLikely benign
Select item 2979844	NM_021922.3(FANCE):c.1398T>C (p.Pro466=)	FANCE	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia complementation group E	GLikely benign
Select item 2978804	NM_021922.3(FANCE):c.304C>T (p.Leu102=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2978494	NM_021922.3(FANCE):c.249-11C>A	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2973263	NM_021922.3(FANCE):c.1354T>C (p.Leu452=)	FANCE	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia complementation group E	GLikely benign
Select item 2971420	NM_021922.3(FANCE):c.768C>T (p.Val256=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2969340	NM_021922.3(FANCE):c.1317-18A>G	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2964765	NM_021922.3(FANCE):c.59C>A (p.Ala20Glu)	FANCE, LOC129996245 (A20E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2964205	NM_021922.3(FANCE):c.823G>A (p.Ala275Thr)	FANCE (A275T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2962414	NM_021922.3(FANCE):c.96G>T (p.Ala32=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2957691	NM_021922.3(FANCE):c.1587C>T (p.Ala529=)	FANCE	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group E	GLikely benign
Select item 2920121	NM_021922.3(FANCE):c.1044G>A (p.Leu348=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2918365	NM_021922.3(FANCE):c.880C>T (p.Leu294=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2918174	NM_021922.3(FANCE):c.552A>G (p.Pro184=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2913506	NM_021922.3(FANCE):c.1383+8G>C	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2910635	NM_021922.3(FANCE):c.975C>T (p.Asp325=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2910340	NM_021922.3(FANCE):c.1113+20C>T	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2909688	NM_021922.3(FANCE):c.108G>T (p.Gly36=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2906744	NM_021922.3(FANCE):c.1113+15A>T	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2904097	NM_021922.3(FANCE):c.1384-19C>T	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2903051	NM_021922.3(FANCE):c.1139C>T (p.Ser380Phe)	FANCE (S380F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2902359	NM_021922.3(FANCE):c.1003C>T (p.Gln335Ter)	FANCE (Q335*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group E	GPathogenic
Select item 2901412	NM_021922.3(FANCE):c.465A>T (p.Pro155=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2900328	NM_021922.3(FANCE):c.216G>A (p.Pro72=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2900216	NM_021922.3(FANCE):c.342C>T (p.Leu114=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2900016	NM_021922.3(FANCE):c.421C>A (p.Arg141=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2899028	NM_021922.3(FANCE):c.970-9T>G	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2895898	NM_021922.3(FANCE):c.1113+10T>C	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2895459	NM_021922.3(FANCE):c.614_615del (p.Glu205fs)	FANCE (E205fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group E	GPathogenic
Select item 2893772	NM_021922.3(FANCE):c.1600T>C (p.Leu534=)	FANCE	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group E	GLikely benign
Select item 2893293	NM_021922.3(FANCE):c.345C>T (p.Leu115=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2890625	NM_021922.3(FANCE):c.807T>C (p.Asp269=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2890621	NM_021922.3(FANCE):c.1371C>T (p.Leu457=)	FANCE	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia complementation group E	GLikely benign
Select item 2890138	NM_021922.3(FANCE):c.1266C>T (p.Cys422=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2888107	NM_021922.3(FANCE):c.970-6A>G	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2887992	NM_021922.3(FANCE):c.642G>A (p.Lys214=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2887990	NM_021922.3(FANCE):c.627C>G (p.Ala209=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2884098	NM_021922.3(FANCE):c.777T>G (p.Val259=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2883416	NM_021922.3(FANCE):c.970-18C>T	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2880951	NM_021922.3(FANCE):c.1509+14G>C	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2869539	NM_021922.3(FANCE):c.813T>C (p.Ala271=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2863212	NM_021922.3(FANCE):c.543C>G (p.Pro181=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2861338	NM_021922.3(FANCE):c.1404G>T (p.Lys468Asn)	FANCE (K468N)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group E	GUncertain significance
Select item 2860006	NM_021922.3(FANCE):c.1284C>G (p.Ser428=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2859785	NM_021922.3(FANCE):c.1379G>A (p.Arg460Gln)	FANCE (R460Q)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group E	GUncertain significance
Select item 2859743	NM_021922.3(FANCE):c.1515T>C (p.Thr505=)	FANCE (L441P)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group E	GLikely benign
Select item 2858792	NM_021922.3(FANCE):c.855+17A>T	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2858233	NM_021922.3(FANCE):c.112G>T (p.Glu38Ter)	FANCE, LOC129996245 (E38*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group E	GPathogenic
Select item 2853450	NM_021922.3(FANCE):c.856-18C>T	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2853307	NM_021922.3(FANCE):c.519G>C (p.Leu173=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2851873	NM_021922.3(FANCE):c.1237+7C>T	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2848450	NM_021922.3(FANCE):c.892T>A (p.Leu298Met)	FANCE (L298M)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2848387	NM_021922.3(FANCE):c.1237+20C>T	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2848050	NM_021922.3(FANCE):c.1114-17C>T	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2845938	NM_021922.3(FANCE):c.531G>A (p.Arg177=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2845279	NM_021922.3(FANCE):c.856-7T>C	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2843595	NM_021922.3(FANCE):c.75_98del (p.Ala26_Leu33del)	FANCE, LOC129996245	Deletion (inframe_deletion)	Fanconi anemia complementation group E	GUncertain significance
Select item 2842487	NM_021922.3(FANCE):c.1510-10T>G	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2841705	NM_021922.3(FANCE):c.856-14G>T	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2841179	NM_021922.3(FANCE):c.855+4C>G	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 2837050	NM_021922.3(FANCE):c.162C>T (p.Gly54=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2836862	NM_021922.3(FANCE):c.105G>C (p.Ala35=)	FANCE, LOC129996245	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2835298	NM_021922.3(FANCE):c.931dup (p.Val311fs)	FANCE (V311fs)	Duplication (frameshift variant)	Fanconi anemia complementation group E	GPathogenic
Select item 2835036	NM_021922.3(FANCE):c.1359G>A (p.Val453=)	FANCE	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia complementation group E	GLikely benign
Select item 2833844	NM_021922.3(FANCE):c.1509+14G>A	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2828426	NM_021922.3(FANCE):c.477A>G (p.Arg159=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2827936	NM_021922.3(FANCE):c.969+20T>A	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2818449	NM_021922.3(FANCE):c.435G>C (p.Gly145=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2811601	NM_021922.3(FANCE):c.1248_1251del (p.Thr417fs)	FANCE (T417fs)	Deletion (frameshift variant)	Fanconi anemia complementation group E	GPathogenic
Select item 2805302	NM_021922.3(FANCE):c.600C>T (p.Arg200=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2803483	NM_021922.3(FANCE):c.1384-16C>A	FANCE	Single nucleotide variant (intron variant)	Fanconi anemia complementation group E	GLikely benign
Select item 2800774	NM_021922.3(FANCE):c.1041G>A (p.Trp347Ter)	FANCE (W347*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group E	GPathogenic
Select item 2798486	NM_021922.3(FANCE):c.4_13del (p.Ala2fs)	FANCE, LOC129996245 (A2fs)	Deletion (frameshift variant +1 more)	Fanconi anemia complementation group E	GPathogenic
Select item 2797516	NM_021922.3(FANCE):c.1374A>G (p.Leu458=)	FANCE	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia complementation group E	GLikely benign
Select item 2794235	NM_021922.3(FANCE):c.838T>C (p.Leu280=)	FANCE	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group E	GLikely benign

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