ClinVar for Gene (Select 3839) - ClinVar

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Links from Gene

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369044	NM_002267.4(KPNA3):c.217C>G (p.Leu73Val)	KPNA3 (L73V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365501	NM_002267.4(KPNA3):c.180del (p.Asp61fs)	KPNA3 (D61fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3362765	NM_002267.4(KPNA3):c.1418T>C (p.Ile473Thr)	KPNA3 (I473T)	Single nucleotide variant (missense variant)	Spastic paraplegia 88, autosomal dominant	GUncertain significance
Select item 3347972	NM_002267.4(KPNA3):c.70-9C>G	KPNA3	Single nucleotide variant (intron variant)	KPNA3-related condition	GBenign
Select item 3289239	NM_002267.4(KPNA3):c.159A>C (p.Gln53His)	KPNA3 (Q53H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289238	NM_002267.4(KPNA3):c.926G>A (p.Gly309Asp)	KPNA3 (G309D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289237	NM_002267.4(KPNA3):c.626G>A (p.Ser209Asn)	KPNA3 (S209N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3289236	NM_002267.4(KPNA3):c.605A>G (p.Lys202Arg)	KPNA3 (K202R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148943	GRCh37/hg19 13q14.2-14.3(chr13:50181731-54350061)x1	ALG11, ARL11 +29 more	Copy number loss	not provided	GUncertain significance
Select item 3116181	NM_002267.4(KPNA3):c.696T>A (p.Asp232Glu)	KPNA3 (D232E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116180	NM_002267.4(KPNA3):c.404C>A (p.Ala135Asp)	KPNA3 (A135D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116179	NM_002267.4(KPNA3):c.1383A>C (p.Lys461Asn)	KPNA3 (K461N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116178	NM_002267.4(KPNA3):c.1264G>T (p.Val422Leu)	KPNA3 (V422L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116177	NM_002267.4(KPNA3):c.1006T>A (p.Ser336Thr)	KPNA3 (S336T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067964	NM_002267.4(KPNA3):c.465G>T (p.Gln155His)	KPNA3 (Q155H)	Single nucleotide variant (missense variant)	Spastic paraplegia 88, autosomal dominant	GUncertain significance
Select item 3063311	GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3	AKAP11, ALG11 +117 more	Copy number gain	not specified	GPathogenic
Select item 3063283	GRCh37/hg19 13q14.11-21.2(chr13:44076923-60520078)x1	ALG11, ARL11 +77 more	Copy number loss	not specified	GPathogenic
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	ITM2B, KBTBD6 +119 more	Copy number loss	not provided	GPathogenic
Select item 2920672	NM_002267.4(KPNA3):c.1116G>A (p.Met372Ile)	KPNA3 (M372I)	Single nucleotide variant (missense variant)	Spastic paraplegia 88, autosomal dominant	GUncertain significance
Select item 2643818	NM_002267.4(KPNA3):c.362A>G (p.Lys121Arg)	KPNA3 (K121R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2643817	NM_002267.4(KPNA3):c.945C>T (p.Thr315=)	KPNA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2581683	NM_002267.4(KPNA3):c.1028A>C (p.Asn343Thr)	KPNA3 (N343T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538355	NM_002267.4(KPNA3):c.1129C>G (p.Leu377Val)	KPNA3 (L377V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520632	NM_002267.4(KPNA3):c.68A>C (p.Glu23Ala)	KPNA3 (E23A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507340	NM_002267.4(KPNA3):c.1081G>A (p.Val361Ile)	KPNA3 (V361I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2384668	NM_002267.4(KPNA3):c.500G>A (p.Arg167His)	KPNA3 (R167H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2331989	NM_002267.4(KPNA3):c.17G>C (p.Ser6Thr)	KPNA3 (S6T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266065	NM_002267.4(KPNA3):c.1463A>C (p.Asp488Ala)	KPNA3 (D488A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1879259	NM_002267.4(KPNA3):c.656A>G (p.Asn219Ser)	KPNA3 (N219S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1713276	NM_002267.4(KPNA3):c.1220T>G (p.Leu407Arg)	KPNA3	Single nucleotide variant (missense variant)	Spastic paraplegia 88, autosomal dominant	GPathogenic
Select item 1713275	NM_002267.4(KPNA3):c.983T>C (p.Leu328Pro)	KPNA3 (L328P)	Single nucleotide variant (missense variant)	Spastic paraplegia 88, autosomal dominant	GPathogenic
Select item 1713274	NM_002267.4(KPNA3):c.1049T>C (p.Leu350Pro)	KPNA3 (L350P)	Single nucleotide variant (missense variant)	Spastic paraplegia 88, autosomal dominant	GPathogenic
Select item 1713273	NM_002267.4(KPNA3):c.944C>T (p.Thr315Ile)	KPNA3 (T315I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1713272	NM_002267.4(KPNA3):c.1001T>G (p.Leu334Arg)	KPNA3 (L334R)	Single nucleotide variant (missense variant)	Spastic paraplegia 88, autosomal dominant	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527772	GRCh37/hg19 13q14.11-14.3(chr13:44573371-53324137)	ALG11, ARL11 +64 more	Copy number loss	not specified	GPathogenic
Select item 1527771	GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)	KLHL1, LPAR6 +120 more	Copy number loss	not specified	GPathogenic
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	SPART, SPRYD7 +147 more	Copy number loss	not specified	GPathogenic
Select item 1527762	GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)	AKAP11, ALG11 +127 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	GTF2F2, PRR20D +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1328110	GRCh37/hg19 13q14.13-21.31(chr13:45819046-63910212)x1	ATP7B, WDFY2 +70 more	Copy number loss	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 979371	GRCh37/hg19 13q14.2(chr13:50179353-50506923)x3	KPNA3, ARL11 +2 more	Copy number gain	not provided	GPathogenic
Select item 979369	GRCh37/hg19 13q14.12-14.3(chr13:45487628-52639336)x3	ALG11, ARL11 +54 more	Copy number gain	not provided	GLikely pathogenic
Select item 815586	GRCh37/hg19 13q14.2(chr13:50056792-50564776)x3	ARL11, DLEU2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 686498	GRCh37/hg19 13q14.2(chr13:50123621-50381102)x3	ARL11, EBPL +2 more	Copy number gain	not provided	GUncertain significance
Select item 685867	GRCh37/hg19 13q14.2-21.2(chr13:49586017-61311845)x1	DLEU2, DLEU7 +45 more	Copy number loss	not provided	GUncertain significance
Select item 565290	Single allele	ALG11, ARL11 +50 more	Deletion	Intellectual disability	GLikely pathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
Select item 564068	GRCh37/hg19 13q14.2(chr13:48292731-50577868)x3	ARL11, CAB39L +19 more	Copy number gain	not provided	GUncertain significance
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 443381	GRCh37/hg19 13q14.2-14.3(chr13:47312129-51342279)x1	ARL11, CAB39L +27 more	Copy number loss	See cases	GPathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 155510	GRCh38/hg38 13q14.2(chr13:48591738-50064488)x3	ARL11, CAB39L +50 more	Copy number gain	See cases	GUncertain significance
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 154070	GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1	ALG11, ARL11 +266 more	Copy number loss	See cases	GPathogenic
Select item 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	LOC126861769, LOC126861770 +437 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 149851	GRCh38/hg38 13q14.2(chr13:49476783-49716109)x3	ARL11, EBPL +13 more	Copy number gain	See cases	GLikely benign
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	OBI1-AS1, OLFM4 +513 more	Copy number loss	See cases	GPathogenic
Select item 147435	GRCh38/hg38 13q14.2-14.3(chr13:48307302-50927473)x1	ARL11, CAB39L +101 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 57643	GRCh38/hg38 13q14.11-14.2(chr13:43505396-49983668)x1	LOC126861771, LOC126861772 +215 more	Copy number loss	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	LOC130009879, LOC130009880 +657 more	Copy number loss	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 96