ClinVar for Gene (Select 126863263) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2996877	NM_031407.7(HUWE1):c.3816G>A (p.Ser1272=)	HUWE1, LOC126863263	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983140	NM_031407.7(HUWE1):c.3688G>A (p.Val1230Ile)	HUWE1, LOC126863263 (V1230I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2633098	NM_031407.7(HUWE1):c.3815C>T (p.Ser1272Leu)	HUWE1, LOC126863263 (S1272L)	Single nucleotide variant (missense variant)	HUWE1-related condition	GUncertain significance
Select item 2627460	NM_031407.7(HUWE1):c.3896GAG[1] (p.Gly1300del)	HUWE1, LOC126863263 (G1300del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 2505941	NM_031407.7(HUWE1):c.3807G>T (p.Met1269Ile)	HUWE1, LOC126863263 (M1269I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500627	NM_031407.7(HUWE1):c.3807G>A (p.Met1269Ile)	HUWE1, LOC126863263 (M1269I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418365	NM_031407.7(HUWE1):c.3925G>C (p.Gly1309Arg)	HUWE1, LOC126863263 (G1309R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2260099	NM_031407.7(HUWE1):c.3910A>G (p.Thr1304Ala)	HUWE1, LOC126863263 (T1304A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2190793	NM_031407.7(HUWE1):c.3935G>A (p.Arg1312His)	HUWE1, LOC126863263 (R1312H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092732	NM_031407.7(HUWE1):c.3759C>G (p.Ile1253Met)	HUWE1, LOC126863263 (I1253M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055498	NM_031407.7(HUWE1):c.3837C>T (p.His1279=)	HUWE1, LOC126863263	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1992169	NM_031407.7(HUWE1):c.3742-16T>C	HUWE1, LOC126863263	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930580	NM_031407.7(HUWE1):c.3840C>T (p.Ile1280=)	HUWE1, LOC126863263	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1924513	NM_031407.7(HUWE1):c.3727G>A (p.Val1243Met)	LOC126863263, HUWE1 (V1243M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1919595	NM_031407.7(HUWE1):c.3858G>C (p.Val1286=)	HUWE1, LOC126863263	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898127	NM_031407.7(HUWE1):c.3741+16T>G	HUWE1, LOC126863263	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1806511	NM_031407.7(HUWE1):c.3745G>A (p.Ala1249Thr)	HUWE1, LOC126863263 (A1249T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1734219	NM_031407.7(HUWE1):c.3713C>T (p.Ala1238Val)	HUWE1, LOC126863263 (A1238V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1733454	NM_031407.7(HUWE1):c.3636C>T (p.Pro1212=)	HUWE1, LOC126863263	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1704087	NM_031407.7(HUWE1):c.3718C>T (p.Arg1240Cys)	HUWE1, LOC126863263 (R1240C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341887	NM_031407.7(HUWE1):c.3641C>T (p.Thr1214Met)	HUWE1, LOC126863263 (T1214M)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 1314978	NM_031407.7(HUWE1):c.3742-29T>C	HUWE1, LOC126863263	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1314113	NM_031407.7(HUWE1):c.3710G>T (p.Ser1237Ile)	HUWE1, LOC126863263 (S1237I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312092	NM_031407.7(HUWE1):c.3712G>A (p.Ala1238Thr)	HUWE1, LOC126863263 (A1238T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1304418	NM_031407.7(HUWE1):c.3931T>A (p.Ser1311Thr)	HUWE1, LOC126863263 (S1311T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1283341	NM_031407.7(HUWE1):c.3741+19A>G	HUWE1, LOC126863263	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283022	NM_031407.7(HUWE1):c.3972+45A>G	HUWE1, LOC126863263	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279901	NM_031407.7(HUWE1):c.3742-26T>C	HUWE1, LOC126863263	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279324	NM_031407.7(HUWE1):c.3742-46G>C	HUWE1, LOC126863263	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270283	NM_031407.7(HUWE1):c.3741+150C>T	HUWE1, LOC126863263	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212811	NM_031407.7(HUWE1):c.3643G>A (p.Val1215Met)	HUWE1, LOC126863263 (V1215M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1205680	NM_031407.7(HUWE1):c.3742-300C>T	HUWE1, LOC126863263	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199539	NM_031407.7(HUWE1):c.3887A>T (p.Glu1296Val)	HUWE1, LOC126863263 (E1296V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1196764	NM_031407.7(HUWE1):c.3741+48C>A	HUWE1, LOC126863263	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195553	NM_031407.7(HUWE1):c.3741+167G>A	HUWE1, LOC126863263	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 981353	NM_031407.7(HUWE1):c.3845G>A (p.Arg1282Gln)	HUWE1, LOC126863263 (R1282Q)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 981349	NM_031407.7(HUWE1):c.3953A>G (p.Asn1318Ser)	HUWE1, LOC126863263 (N1318S)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 812006	NM_031407.7(HUWE1):c.3896G>A (p.Arg1299Gln)	HUWE1, LOC126863263 (R1299Q)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 807726	NM_031407.7(HUWE1):c.3863G>A (p.Arg1288Gln)	HUWE1, LOC126863263 (R1288Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 743175	NM_031407.7(HUWE1):c.3642G>A (p.Thr1214=)	HUWE1, LOC126863263	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728080	NM_031407.7(HUWE1):c.3741+9T>A	HUWE1, LOC126863263	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 712668	NM_031407.7(HUWE1):c.3714A>T (p.Ala1238=)	LOC126863263, HUWE1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 588586	NM_031407.7(HUWE1):c.3912A>G (p.Thr1304=)	HUWE1, LOC126863263	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 435480	NM_031407.7(HUWE1):c.3648T>C (p.Leu1216=)	HUWE1, LOC126863263	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 211165	NM_031407.7(HUWE1):c.3966G>A (p.Leu1322=)	LOC126863263, HUWE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 196796	NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=)	HUWE1, LOC126863263	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	ABCB7, ABCD1 +2631 more	Copy number gain	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	LOC119407398, LOC119407399 +2632 more	Copy number loss	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	LOC130068054, LOC130068055 +2631 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	LOC130068194, LOC130068195 +2632 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC126863191, LOC126863192 +2633 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC130068432, LOC130068433 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	ACOT9, ABCB7 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	LOC126863301, LOC126863302 +2632 more	Copy number gain	See cases	GPathogenic
Select item 155282	GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	ABCB7, ABCD1 +1590 more	Copy number loss	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	LOC126863205, LOC126863206 +2632 more	Copy number gain	See cases	GPathogenic
Select item 155063	GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1	PAGE2, PAGE2B +1130 more	Copy number loss	See cases	GPathogenic
Select item 154689	GRCh38/hg38 Xp11.22-q11.2(chrX:52809123-65305544)x3	ALAS2, AMER1 +169 more	Copy number gain	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	CT45A7, CT45A8 +2632 more	Copy number gain	See cases	GPathogenic
Select item 154438	GRCh38/hg38 Xp11.22(chrX:53374635-53878183)x3	HSD17B10, HUWE1 +15 more	Copy number gain	See cases	GUncertain significance
Select item 154249	GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1	ACE2, ACE2-DT +1216 more	Copy number loss	See cases	GPathogenic
Select item 153937	GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	LOC130067921, LOC130067922 +1798 more	Copy number gain	See cases	GPathogenic
Select item 153755	GRCh38/hg38 Xp11.22-11.1(chrX:51654792-58469500)x1	ALAS2, APEX2 +162 more	Copy number loss	See cases	GPathogenic
Select item 153303	GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)	ABCB7, ACSL4 +824 more	Copy number loss	See cases	GPathogenic
Select item 153262	GRCh38/hg38 Xp11.22(chrX:53339720-53764162)x1	HSD17B10, HUWE1 +15 more	Copy number loss	See cases	GUncertain significance
Select item 153138	GRCh38/hg38 Xp11.22(chrX:53529974-53595774)x2	HUWE1, LOC126863262 +3 more	Copy number gain	See cases	GUncertain significance
Select item 153068	GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3	AKAP4, ARAF +328 more	Copy number gain	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	LOC130068458, LOC130068459 +2633 more	Copy number gain	See cases	GPathogenic
Select item 152899	GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	ABCB7, ABCD1 +2603 more	Copy number gain	See cases	GPathogenic
Select item 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	LOC107985687, LOC107988021 +2632 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	LOC130067947, LOC130067948 +2632 more	Copy number gain	See cases	GPathogenic
Select item 152052	GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1	LOC130068171, LOC130068172 +1069 more	Copy number loss	See cases	GPathogenic
Select item 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	CT45A3, CT45A5 +2632 more	Copy number gain	See cases	GPathogenic
Select item 150510	GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	ASMT, ASMTL +1475 more	Copy number loss	See cases	GPathogenic
Select item 150498	GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1	LOC130068270, LOC130068271 +1163 more	Copy number loss	See cases	GPathogenic
Select item 150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	CDKL5, CDR1 +2611 more	Copy number loss	See cases	GPathogenic
Select item 149705	GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	ABCB7, ACE2 +2046 more	Copy number loss	See cases	GPathogenic
Select item 149318	GRCh38/hg38 Xp11.22(chrX:52975325-53610511)x3	FAM156A, GPR173 +29 more	Copy number gain	See cases	GUncertain significance
Select item 148821	GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	LOC129391293, LOC129391294 +1628 more	Copy number loss	See cases	GPathogenic
Select item 148478	GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1	NBDY, NDP +1163 more	Copy number loss	See cases	GPathogenic
Select item 148340	GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1	ABCB7, AKAP4 +640 more	Copy number loss	See cases	GPathogenic
Select item 148051	GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	IL1RAPL1, IL2RG +1398 more	Copy number gain	See cases	GPathogenic
Select item 147875	GRCh38/hg38 Xp11.22(chrX:53403791-53795603)x2	HSD17B10, HUWE1 +15 more	Copy number gain	See cases	GUncertain significance
Select item 147683	GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	LOC130068368, LOC130068369 +2593 more	Copy number gain	See cases	GPathogenic
Select item 147627	GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	LOC126863296, LOC126863297 +2593 more	Copy number gain	See cases	GPathogenic
Select item 147257	GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	LOC119407406, LOC119407407 +2632 more	Copy number loss	See cases	GPathogenic
Select item 146861	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	ABCB7, ABCD1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 146857	GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	FANCB, FGD1 +1932 more	Copy number loss	See cases	GPathogenic
Select item 146764	GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	HMGN5, HNRNPH2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 146707	GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3	AKAP4, ALAS2 +343 more	Copy number gain	See cases	GPathogenic
Select item 146240	GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	ABCB7, ABCD1 +2102 more	Copy number loss	See cases	GPathogenic
Select item 146020	GRCh38/hg38 Xp11.22(chrX:53532587-53595587)x3	HUWE1, LOC126863262 +3 more	Copy number gain	See cases	GPathogenic
Select item 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	LOC113875011, LOC113875012 +2633 more	Copy number loss	See cases	GPathogenic
Select item 145979	GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1	LOC130068028, LOC130068029 +960 more	Copy number loss	See cases	GPathogenic
Select item 145974	GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	ABCB7, ABCD1 +2098 more	Copy number loss	See cases	GPathogenic
Select item 145166	GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1	ACE2, ACE2-DT +1163 more	Copy number loss	See cases	GPathogenic
Select item 145165	GRCh38/hg38 Xp11.22(chrX:53532771-53764152)x3	HUWE1, LOC126863262 +10 more	Copy number gain	See cases	GPathogenic
Select item 145164	GRCh38/hg38 Xp11.22(chrX:53532771-53764152)x2	HUWE1, LOC126863262 +10 more	Copy number gain	See cases	GPathogenic
Select item 145162	GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic

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