"GeneDx"[submitter] AND "FAN1"[gene] - ClinVar

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Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58636	GRCh38/hg38 15q13.1-13.3(chr15:28918473-32149250)x1	APBA2, ARHGAP11B +51 more	Copy number loss	See cases	GPathogenic
Select item 57600	GRCh38/hg38 15q13.1-13.3(chr15:28918473-32606466)x3	APBA2, ARHGAP11A-DT +58 more	Copy number gain	See cases	GUncertain significance
Select item 58653	GRCh38/hg38 15q13.2-13.3(chr15:30361674-31317476)x1	FAN1, ARHGAP11B +25 more	Copy number loss	See cases	GPathogenic
Select item 1253982	NM_014967.5(FAN1):c.-153+237G>T	FAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242518	NM_014967.5(FAN1):c.-152-165A>G	FAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197987	NM_014967.5(FAN1):c.-152-140G>A	FAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1314887	NM_014967.5(FAN1):c.-152-7_-152-5del	FAN1	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 785479	NM_014967.5(FAN1):c.326T>C (p.Leu109Ser)	FAN1 (L109S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 714554	NM_014967.5(FAN1):c.557C>A (p.Ser186Tyr)	FAN1 (S186Y)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
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 719369	NM_014967.5(FAN1):c.718G>A (p.Glu240Lys)	FAN1 (E240K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 1186282	NM_014967.5(FAN1):c.1110C>T (p.Thr370=)	FAN1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 785898	NM_014967.5(FAN1):c.1177A>G (p.Met393Val)	FAN1 (M393V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1228116	NM_014967.5(FAN1):c.1234+299A>G	FAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304853	NM_014967.5(FAN1):c.1235-189T>G	FAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252778	NM_014967.5(FAN1):c.1235-148A>T	FAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 452749	NM_014967.5(FAN1):c.1270C>T (p.Arg424Cys)	FAN1 (R424C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 711105	NM_014967.5(FAN1):c.1310A>G (p.Glu437Gly)	FAN1 (E437G)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1223560	NM_014967.5(FAN1):c.1375+49T>G	FAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199984	NM_014967.5(FAN1):c.1375+141T>C	FAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232082	NM_014967.5(FAN1):c.1375+222T>A	FAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276264	NM_014967.5(FAN1):c.1376-320G>A	FAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225393	NM_014967.5(FAN1):c.1376-30T>A	FAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280963	NM_014967.5(FAN1):c.1577+75C>T	FAN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1248386	NM_014967.5(FAN1):c.1578-14T>G	FAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3277594	NM_014967.5(FAN1):c.1738G>A (p.Gly580Ser)	FAN1 (G580S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1188784	NM_014967.5(FAN1):c.1811+131C>T	FAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261451	NM_014967.5(FAN1):c.1811+233dup	FAN1	Duplication (intron variant)	not provided	GBenign
Select item 1223388	NM_014967.5(FAN1):c.1812-327A>T	FAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222445	NM_014967.5(FAN1):c.1812-157T>G	FAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246229	NM_014967.5(FAN1):c.1812-155G>A	FAN1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1286042	NM_014967.5(FAN1):c.1943+153A>G	FAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212326	NM_014967.5(FAN1):c.1944-288G>A	FAN1, MTMR10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187758	NM_014967.5(FAN1):c.1944-207C>T	MTMR10, FAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243826	NM_014967.5(FAN1):c.1944-64G>C	FAN1, MTMR10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 715459	NM_014967.5(FAN1):c.1944-4T>C	FAN1, MTMR10	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1279747	NM_014967.5(FAN1):c.2052+45C>T	FAN1, MTMR10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196984	NM_014967.5(FAN1):c.2053-129C>T	FAN1, MTMR10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261385	NM_014967.5(FAN1):c.2053-53G>A	FAN1, MTMR10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255234	NM_014967.5(FAN1):c.2053-13_2053-11del	FAN1, MTMR10	Deletion (intron variant)	not provided	GBenign
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 1221183	NM_014967.5(FAN1):c.2172+92A>G	FAN1, MTMR10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259687	NM_014967.5(FAN1):c.2172+276G>A	FAN1, MTMR10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180182	NM_014967.5(FAN1):c.2173-219C>T	FAN1, MTMR10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193104	NM_014967.5(FAN1):c.2173-218G>A	FAN1, MTMR10	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1291997	NM_014967.5(FAN1):c.2271G>C (p.Pro757=)	FAN1, MTMR10	Single nucleotide variant (synonymous 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 1253845	NM_014967.5(FAN1):c.2338-200C>G	FAN1, MTMR10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241810	NM_014967.5(FAN1):c.2338-163C>G	FAN1, MTMR10	Single nucleotide variant (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 720696	NM_014967.5(FAN1):c.2413G>A (p.Ala805Thr)	FAN1, MTMR10 (A805T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
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 729188	NM_014967.5(FAN1):c.2427G>A (p.Thr809=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1241902	NM_014967.5(FAN1):c.2488+22T>C	FAN1, MTMR10	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1294545	NM_014967.5(FAN1):c.2489-46TG[22]	FAN1, MTMR10	Microsatellite (intron variant)	not provided	GBenign
Select item 1260856	NM_014967.5(FAN1):c.2489-46TG[18]	FAN1, MTMR10	Microsatellite (intron variant)	not provided	GBenign
Select item 1241600	NM_014967.5(FAN1):c.2489-46TG[21]	FAN1, MTMR10	Microsatellite (intron variant)	not provided	GBenign
Select item 1234201	NM_014967.5(FAN1):c.2489-46TG[20]	FAN1, MTMR10	Microsatellite (intron variant)	not provided	GBenign
Select item 1227432	NM_014967.5(FAN1):c.2489-46TG[19]	FAN1, MTMR10	Microsatellite (intron variant)	not provided	GBenign
Select item 1197144	NM_014967.5(FAN1):c.2489-46TG[23]	FAN1, MTMR10	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1268798	NM_014967.5(FAN1):c.2593-240C>G	FAN1, MTMR10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200441	NM_014967.5(FAN1):c.2680C>T (p.Pro894Ser)	FAN1, MTMR10 (P894S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1223520	NM_014967.5(FAN1):c.2787+47G>A	FAN1, MTMR10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326105	NM_014967.5(FAN1):c.2787+87_2787+88del	FAN1, MTMR10	Deletion (intron variant)	not provided	GLikely benign
Select item 1271253	NM_014967.5(FAN1):c.2787+145C>A	FAN1, MTMR10	Single nucleotide variant (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 1179755	NM_014967.5(FAN1):c.2787+207_2787+208del	FAN1, MTMR10	Microsatellite (intron variant)	not provided	GBenign
Select item 1254930	NM_014967.5(FAN1):c.2787+227T>C	FAN1, MTMR10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289306	NM_014967.5(FAN1):c.2787+250_2787+253del	FAN1, MTMR10	Microsatellite (intron variant)	not provided	GBenign
Select item 1225648	NM_014967.5(FAN1):c.2787+250_2787+258del	FAN1, MTMR10	Deletion (intron variant)	not provided	GBenign
Select item 1250822	NM_014967.5(FAN1):c.2787+265_2787+294dup	FAN1, MTMR10	Duplication (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
Select item 1198008	NM_014967.5(FAN1):c.2787+295A>G	FAN1, MTMR10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174264	NM_014967.5(FAN1):c.2788-161G>C	FAN1, MTMR10	Single nucleotide variant (intron variant)	not provided	GBenign
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 1245046	NM_014967.5(FAN1):c.2916+152C>G	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 1239254	NM_014967.5(FAN1):c.2917-268_2917-261del	FAN1, MTMR10	Deletion (intron variant)	not provided	GBenign
Select item 260491	NM_014967.5(FAN1):c.3015T>C (p.His1005=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1262533	NM_014967.5(FAN1):c.*3+60T>A	FAN1, MTMR10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236424	NM_014967.5(FAN1):c.*3+210del	FAN1, MTMR10	Deletion (intron variant)	not provided	GBenign
Select item 1217874	NM_014967.5(FAN1):c.3+209_3+210del	FAN1, MTMR10	Deletion (intron variant)	not provided	GLikely benign
Select item 253558	GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917857)x4	APBA2, ARHGAP11A +51 more	Copy number gain	See cases	GPathogenic
Select item 253536	GRCh37/hg19 15q11.1-13.3(chr15:20190548-32386089)x4	APBA2, ARHGAP11B +48 more	Copy number gain	See cases	GPathogenic
Select item 253412	GRCh37/hg19 15q11.2-13.3(chr15:25583931-32418279)x3	APBA2, ARHGAP11B +21 more	Copy number gain	See cases	GPathogenic
Select item 253378	GRCh37/hg19 15q13.2-13.3(chr15:31115047-32418279)x1	MIR211, MTMR10 +5 more	Copy number loss	See cases	GPathogenic
Select item 253353	GRCh37/hg19 15q13.2-13.3(chr15:31115047-32917857)x3	ARHGAP11A, CHRNA7 +8 more	Copy number gain	See cases	GLikely pathogenic

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Items: 92