3595[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	MTNR1A, NAF1 +535 more	Copy number gain	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC129993482, LOC129993483 +509 more	Copy number loss	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	LOC129993424, LOC129993425 +485 more	Copy number loss	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	MIR4455, MIR548T +466 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC129993469, LOC129993470 +455 more	Copy number loss	See cases	GPathogenic
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	LOC129993480, LOC129993481 +451 more	Copy number gain	See cases	GPathogenic
Select item 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	AADAT, ACSL1 +386 more	Copy number loss	See cases	GPathogenic
Select item 151692	GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1	AADAT, ACSL1 +399 more	Copy number loss	See cases	GPathogenic
Select item 149543	GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3	SAP30-DT, SCRG1 +401 more	Copy number gain	See cases	GUncertain significance
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LOC126807230, LOC126807231 +383 more	Copy number loss	See cases	GPathogenic
Select item 59507	GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1	UFSP2, VEGFC +375 more	Copy number loss	See cases	GPathogenic
Select item 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	MIR4455, MIR548T +369 more	Copy number gain	See cases	GPathogenic
Select item 59510	GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1	ACSL1, ADAM29 +369 more	Copy number loss	See cases	GPathogenic
Select item 155012	GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1	ACSL1, ADAM29 +372 more	Copy number loss	See cases	GPathogenic
Select item 57133	GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1	ACSL1, ADAM29 +322 more	Copy number loss	See cases	GPathogenic
Select item 59511	GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 146879	GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 152991	GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1	FLJ38576, FRG1 +339 more	Copy number loss	See cases	GPathogenic
Select item 57505	GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1	ACSL1, AGA +324 more	Copy number loss	See cases	GPathogenic
Select item 155559	GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1	ACSL1, AGA +293 more	Copy number loss	See cases	GLikely pathogenic
Select item 59532	GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1	LOC132089100, LOC132089101 +293 more	Copy number loss	See cases	GPathogenic
Select item 148007	GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1	LOC126807226, LOC126807227 +285 more	Copy number loss	See cases	GPathogenic
Select item 148268	GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1	ACSL1, ANKRD37 +287 more	Copy number loss	See cases	GPathogenic
Select item 148187	GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1	ACSL1, ANKRD37 +286 more	Copy number loss	See cases	GPathogenic
Select item 151757	GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3	LOC132089106, LOC132089107 +282 more	Copy number gain	See cases	GPathogenic
Select item 58062	GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3	ACSL1, ANKRD37 +267 more	Copy number gain	See cases	GPathogenic
Select item 146393	GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3	ACSL1, ANKRD37 +275 more	Copy number gain	See cases	GLikely pathogenic
Select item 148270	GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1	ACSL1, ANKRD37 +275 more	Copy number loss	See cases	GPathogenic
Select item 154943	GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3	WWC2, WWC2-AS1 +274 more	Copy number gain	See cases	GPathogenic
Select item 144872	GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1	ACSL1, ANKRD37 +256 more	Copy number loss	See cases	GPathogenic
Select item 153318	GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4	ACSL1, ANKRD37 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 149694	GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1	ACSL1, ANKRD37 +241 more	Copy number loss	See cases	GPathogenic
Select item 59536	GRCh38/hg38 4q35.1-35.2(chr4:183354112-190042639)x1	ACSL1, ANKRD37 +228 more	Copy number loss	See cases	GPathogenic
Select item 57066	GRCh38/hg38 4q35.1-35.2(chr4:183528264-188624331)x1	ACSL1, ANKRD37 +197 more	Copy number loss	See cases	GPathogenic
Select item 147808	GRCh38/hg38 4q35.1-35.2(chr4:184239531-189975519)x1	ACSL1, ANKRD37 +206 more	Copy number loss	See cases	GPathogenic
Select item 144227	GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x1	ACSL1, ANKRD37 +185 more	Copy number loss	See cases	GLikely pathogenic
Select item 144226	GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x3	ACSL1, ANKRD37 +185 more	Copy number gain	See cases	GPathogenic
Select item 144741	GRCh38/hg38 4q35.1-35.2(chr4:184406972-188915538)x3	ACSL1, ANKRD37 +162 more	Copy number gain	See cases	GPathogenic
Select item 59537	GRCh38/hg38 4q35.1-35.2(chr4:185074103-189867552)x1	ANKRD37, CCDC110 +118 more	Copy number loss	See cases	GPathogenic
Select item 153280	GRCh38/hg38 4q35.1-35.2(chr4:185290811-187350114)x1	ANKRD37, CCDC110 +67 more	Copy number loss	See cases	GLikely benign
Select item 545305	Single allele	ANKRD37, CCDC110 +80 more	Duplication	Autism	GLikely pathogenic
Select item 59551	GRCh38/hg38 4q35.1-35.2(chr4:185351249-189867552)x1	ANKRD37, CCDC110 +92 more	Copy number loss	See cases	GPathogenic
Select item 155508	GRCh38/hg38 4q35.1-35.2(chr4:185601825-187530334)x3	CYP4V2, F11 +38 more	Copy number gain	See cases	GUncertain significance
Select item 644265	NC_000004.12:g.(?_185684754)_(186709827_?)del	KLKB1, LOC123493252 +26 more	Deletion	not provided	GPathogenic
Select item 150816	GRCh38/hg38 4q35.1-35.2(chr4:185698962-189975613)x1	CYP4V2, F11 +75 more	Copy number loss	See cases	GUncertain significance
Select item 149571	GRCh38/hg38 4q35.1-35.2(chr4:185790027-187829822)x4	CYP4V2, F11 +41 more	Copy number gain	See cases	GUncertain significance
Select item 148762	GRCh38/hg38 4q35.1-35.2(chr4:186129390-190095391)x1	CYP4V2, DBET +72 more	Copy number loss	See cases	GUncertain significance
Select item 146635	GRCh38/hg38 4q35.1-35.2(chr4:186187749-189800953)x1	CYP4V2, F11 +62 more	Copy number loss	See cases	GPathogenic
Select item 1703259	Single allele	CYP4V2, DBET +67 more	Deletion	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 57003	GRCh38/hg38 4q35.2(chr4:186218358-187484068)x3	F11, F11-AS1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 60203	GRCh38/hg38 4q35.2(chr4:186550538-187284289)x1	FAT1, LINC02374 +14 more	Copy number loss	See cases	GUncertain significance
Select item 152451	GRCh38/hg38 4q35.2(chr4:186554379-189324047)x1	FAT1, LINC01060 +46 more	Copy number loss	See cases	GUncertain significance
Select item 1274388	NM_005245.4(FAT1):c.*254G>A	FAT1, LOC126807253	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1213585	NM_005245.4(FAT1):c.*142C>T	FAT1, LOC126807253	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1257852	NM_005245.4(FAT1):c.*132C>T	FAT1, LOC126807253	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1262812	NM_005245.4(FAT1):c.*15dup	FAT1, LOC126807253	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 3030692	NM_005245.4(FAT1):c.*7A>G	FAT1, LOC126807253	Single nucleotide variant (3 prime UTR variant)	FAT1-related disorder	GLikely benign
Select item 2056721	NM_005245.4(FAT1):c.13758G>C (p.Thr4586=)	FAT1, LOC126807253	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783387	NM_005245.4(FAT1):c.13727C>T (p.Thr4576Met)	FAT1, LOC126807253 (T4576M)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2965077	NM_005245.4(FAT1):c.13722G>A (p.Glu4574=)	FAT1, LOC126807253	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3277794	NM_005245.4(FAT1):c.13705G>C (p.Asp4569His)	FAT1, LOC126807253 (D4569H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2630285	NM_005245.4(FAT1):c.13697G>A (p.Ser4566Asn)	FAT1, LOC126807253 (S4566N)	Single nucleotide variant (missense variant)	FAT1-related disorder	GUncertain significance
Select item 2071284	NM_005245.4(FAT1):c.13675G>A (p.Val4559Ile)	FAT1, LOC126807253 (V4559I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3093046	NM_005245.4(FAT1):c.13672G>A (p.Glu4558Lys)	FAT1, LOC126807253 (E4558K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1944559	NM_005245.4(FAT1):c.13659C>T (p.Cys4553=)	FAT1, LOC126807253	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082398	NM_005245.4(FAT1):c.13657T>C (p.Cys4553Arg)	FAT1, LOC126807253 (C4553R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 782813	NM_005245.4(FAT1):c.13652C>G (p.Ala4551Gly)	FAT1, LOC126807253 (A4551G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2408892	NM_005245.4(FAT1):c.13645G>A (p.Val4549Met)	FAT1, LOC126807253 (V4549M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2471448	NM_005245.4(FAT1):c.13630G>A (p.Ala4544Thr)	FAT1, LOC126807253 (A4544T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2635387	NM_005245.4(FAT1):c.13627A>G (p.Thr4543Ala)	FAT1, LOC126807253 (T4543A)	Single nucleotide variant (missense variant)	FAT1-related disorder	GUncertain significance
Select item 2976908	NM_005245.4(FAT1):c.13620C>T (p.Tyr4540=)	FAT1, LOC126807253	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3093045	NM_005245.4(FAT1):c.13607C>G (p.Pro4536Arg)	FAT1, LOC126807253 (P4536R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265481	NM_005245.4(FAT1):c.13594G>A (p.Val4532Ile)	FAT1, LOC126807253 (V4532I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2084887	NM_005245.4(FAT1):c.13590C>T (p.Pro4530=)	FAT1, LOC126807253	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2622207	NM_005245.4(FAT1):c.13586C>T (p.Ala4529Val)	FAT1, LOC126807253 (A4529V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 791620	NM_005245.4(FAT1):c.13582G>A (p.Glu4528Lys)	FAT1, LOC126807253 (E4528K)	Single nucleotide variant (missense variant)	FAT1-related disorder +1 more	GBenign/Likely benign
Select item 2279024	NM_005245.4(FAT1):c.13537A>G (p.Arg4513Gly)	FAT1, LOC126807253 (R4513G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534791	NM_005245.4(FAT1):c.13505A>G (p.Gln4502Arg)	FAT1, LOC126807253 (Q4502R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258113	NM_005245.4(FAT1):c.13489G>A (p.Asp4497Asn)	FAT1, LOC126807253 (D4497N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1602564	NM_005245.4(FAT1):c.13488C>T (p.Leu4496=)	FAT1, LOC126807253	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3093044	NM_005245.4(FAT1):c.13484C>T (p.Pro4495Leu)	FAT1, LOC126807253 (P4495L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1312431	NM_005245.4(FAT1):c.13476T>G (p.Asn4492Lys)	FAT1, LOC126807253 (N4492K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3093043	NM_005245.4(FAT1):c.13475A>G (p.Asn4492Ser)	FAT1, LOC126807253 (N4492S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3093042	NM_005245.4(FAT1):c.13474A>C (p.Asn4492His)	FAT1, LOC126807253 (N4492H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2712777	NM_005245.4(FAT1):c.13464G>A (p.Gln4488=)	FAT1, LOC126807253	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714991	NM_005245.4(FAT1):c.13441C>T (p.Arg4481Trp)	FAT1, LOC126807253 (R4481W)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2600103	NM_005245.4(FAT1):c.13412C>T (p.Ala4471Val)	FAT1, LOC126807253 (A4471V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2411170	NM_005245.4(FAT1):c.13411G>A (p.Ala4471Thr)	FAT1, LOC126807253 (A4471T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1512496	NM_005245.4(FAT1):c.13399G>A (p.Asp4467Asn)	FAT1, LOC126807253 (D4467N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 709738	NM_005245.4(FAT1):c.13359C>T (p.Pro4453=)	FAT1, LOC126807253	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2407057	NM_005245.4(FAT1):c.13353A>C (p.Leu4451Phe)	FAT1, LOC126807253 (L4451F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3060804	NM_005245.4(FAT1):c.13351T>C (p.Leu4451=)	FAT1, LOC126807253	Single nucleotide variant (synonymous variant)	FAT1-related disorder	GLikely benign
Select item 751020	NM_005245.4(FAT1):c.13314C>T (p.Pro4438=)	FAT1, LOC126807253	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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