144811[geneid] - ClinVar

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Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 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 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 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 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 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 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 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 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 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 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 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 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	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 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	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 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 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 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 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 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	LOC126861769, LOC126861770 +437 more	Copy number loss	See cases	GPathogenic
Select item 59890	GRCh38/hg38 13q14.11(chr13:40799505-44006174)x3	AKAP11, CCDC122 +111 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 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	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 57643	GRCh38/hg38 13q14.11-14.2(chr13:43505396-49983668)x1	LOC126861771, LOC126861772 +215 more	Copy number loss	See cases	GPathogenic
Select item 814023	NM_153218.4(LACC1):c.3G>A (p.Met1Ile)	LACC1 (M1I)	Single nucleotide variant (missense variant +2 more)	Juvenile arthritis due to defect in LACC1	GPathogenic
Select item 721083	NM_153218.4(LACC1):c.112A>G (p.Lys38Glu)	LACC1 (K38E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 3117296	NM_153218.4(LACC1):c.113A>G (p.Lys38Arg)	LACC1 (K38R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317492	NM_153218.4(LACC1):c.119A>C (p.Lys40Thr)	LACC1 (K40T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 814026	NM_153218.4(LACC1):c.128_129del (p.Cys43fs)	LACC1 (C43fs)	Deletion (frameshift variant +1 more)	Juvenile arthritis due to defect in LACC1	GPathogenic
Select item 2537315	NM_153218.4(LACC1):c.172C>A (p.Gln58Lys)	LACC1 (Q58K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3117298	NM_153218.4(LACC1):c.175G>C (p.Asp59His)	LACC1 (D59H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265612	NM_153218.4(LACC1):c.214C>A (p.Leu72Ile)	LACC1 (L72I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376670	NM_153218.4(LACC1):c.253G>A (p.Ala85Thr)	LACC1 (A85T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 993005	NM_153218.4(LACC1):c.268_272dup (p.Lys92fs)	LACC1 (K92fs)	Duplication (frameshift variant +1 more)	Juvenile arthritis due to defect in LACC1	GLikely pathogenic
Select item 2202782	NM_153218.4(LACC1):c.296del (p.Asn99fs)	LACC1 (N99fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2643795	NM_153218.4(LACC1):c.322C>G (p.Pro108Ala)	LACC1 (P108A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3289827	NM_153218.4(LACC1):c.355A>G (p.Ile119Val)	LACC1 (I119V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2643796	NM_153218.4(LACC1):c.359A>C (p.Asp120Ala)	LACC1 (D120A)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2383099	NM_153218.4(LACC1):c.359A>G (p.Asp120Gly)	LACC1 (D120G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3289828	NM_153218.4(LACC1):c.383A>G (p.Asn128Ser)	LACC1 (N128S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 743333	NM_153218.4(LACC1):c.423G>A (p.Gly141=)	LACC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2379388	NM_153218.4(LACC1):c.437C>A (p.Ser146Tyr)	LACC1 (S146Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378039	NM_153218.4(LACC1):c.437C>G (p.Ser146Cys)	LACC1 (S146C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3117300	NM_153218.4(LACC1):c.482A>C (p.Gln161Pro)	LACC1 (Q161P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3117301	NM_153218.4(LACC1):c.491T>G (p.Ile164Arg)	LACC1 (I164R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355458	NM_153218.4(LACC1):c.503T>C (p.Leu168Ser)	LACC1 (L168S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284656	NM_153218.4(LACC1):c.505A>G (p.Arg169Gly)	LACC1 (R169G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262513	NM_153218.4(LACC1):c.551C>G (p.Ser184Cys)	LACC1 (S184C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3117302	NM_153218.4(LACC1):c.689G>A (p.Arg230His)	LACC1 (R230H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3117303	NM_153218.4(LACC1):c.691A>G (p.Arg231Gly)	LACC1 (R231G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219429	NM_153218.4(LACC1):c.734G>A (p.Arg245Gln)	LACC1 (R245Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1300105	NM_153218.4(LACC1):c.760A>G (p.Ile254Val)	CCDC122, LACC1 (I254V)	Single nucleotide variant (missense variant +1 more)	Juvenile arthritis due to defect in LACC1 +2 more	GBenign
Select item 2551314	NM_153218.4(LACC1):c.771G>C (p.Met257Ile)	LACC1 (M257I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484656	NM_153218.4(LACC1):c.781G>A (p.Glu261Lys)	LACC1 (E261K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1686635	NM_153218.4(LACC1):c.783_797del (p.Glu261_Tyr265del)	LACC1	Deletion (inframe_deletion)	Juvenile arthritis due to defect in LACC1	GLikely pathogenic
Select item 2643797	NM_153218.4(LACC1):c.795T>C (p.Tyr265=)	LACC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 814022	NM_153218.4(LACC1):c.827del (p.Thr276fs)	LACC1 (T20fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1332847	NM_153218.4(LACC1):c.832G>C (p.Ala278Pro)	LACC1 (A22P +1 more)	Single nucleotide variant (missense variant)	Juvenile arthritis due to defect in LACC1	GUncertain significance
Select item 180673	NM_153218.4(LACC1):c.850T>C (p.Cys284Arg)	LACC1 (C284R +1 more)	Single nucleotide variant (missense variant)	Juvenile arthritis due to defect in LACC1	GConflicting classifications of pathogenicity
Select item 814025	NM_153218.4(LACC1):c.988_990del (p.Ile330del)	LACC1 (I330del +1 more)	Deletion (inframe_deletion)	Juvenile arthritis due to defect in LACC1	GPathogenic
Select item 729025	NM_153218.4(LACC1):c.1018C>T (p.Pro340Ser)	LACC1 (P84S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3289826	NM_153218.4(LACC1):c.1082T>C (p.Val361Ala)	LACC1 (V361A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117297	NM_153218.4(LACC1):c.1147C>A (p.Gln383Lys)	LACC1 (Q383K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 814024	NM_153218.4(LACC1):c.1240C>T (p.Arg414Ter)	LACC1 (R414* +1 more)	Single nucleotide variant (nonsense +1 more)	Juvenile arthritis due to defect in LACC1	GPathogenic
Select item 3067779	NM_153218.4(LACC1):c.1282A>G (p.Ile428Val)	LACC1 (I172V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1710529	NC_000013.11:g.43904864A>G	LACC1	Single nucleotide variant	Leprosy, susceptibility to, 1	GUncertain risk allele
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 3063306	GRCh37/hg19 13q13.2-14.11(chr13:35060982-44540846)x1	AKAP11, ALG5 +42 more	Copy number loss	not specified	GUncertain significance
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 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	ITM2B, KBTBD6 +119 more	Copy number loss	not provided	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 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 1340462	GRCh37/hg19 13q14.11-14.12(chr13:43688967-45630698)x1	CCDC122, ENOX1 +6 more	Copy number loss	not provided	GUncertain significance
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 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	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

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Items: 91