MAB21L1[gene] - ClinVar

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Items: 75

	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 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 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 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 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 148858	GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1	ALOX5AP, B3GLCT +203 more	Copy number loss	See cases	GPathogenic
Select item 154802	GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3	ALG5, ALOX5AP +211 more	Copy number gain	See cases	GPathogenic
Select item 150360	GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1	ALG5, ALOX5AP +214 more	Copy number loss	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 58253	GRCh38/hg38 13q13.2-13.3(chr13:33754469-36942137)x3	CCDC169, CCDC169-SOHLH2 +53 more	Copy number gain	See cases	GUncertain significance
Select item 545160	NC_000013.11:g.(?_35060502)_(35507109_?)del	LOC109580097, LOC110121346 +5 more	Deletion	Autism	GLikely pathogenic
Select item 57640	GRCh38/hg38 13q13.3-14.11(chr13:35232476-41375955)x1	ALG5, CCDC169 +146 more	Copy number loss	See cases	GPathogenic
Select item 634928	NM_005584.5(MAB21L1):c.859del (p.Arg287fs)	MAB21L1, NBEA (R287fs)	Deletion (frameshift variant +1 more)	Cerebellar, ocular, craniofacial, and genital syndrome	GPathogenic
Select item 3292451	NM_005584.5(MAB21L1):c.843G>C (p.Glu281Asp)	MAB21L1, NBEA (E281D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 634929	NM_005584.5(MAB21L1):c.841del (p.Glu281fs)	MAB21L1, NBEA (E281fs)	Deletion (frameshift variant +1 more)	Cerebellar, ocular, craniofacial, and genital syndrome	GPathogenic
Select item 634927	NM_005584.5(MAB21L1):c.840C>G (p.Tyr280Ter)	MAB21L1, NBEA (Y280*)	Single nucleotide variant (nonsense +1 more)	Cerebellar, ocular, craniofacial, and genital syndrome	GPathogenic
Select item 3045100	NM_005584.5(MAB21L1):c.820A>G (p.Met274Val)	MAB21L1, NBEA (M274V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3292450	NM_005584.5(MAB21L1):c.802C>T (p.Pro268Ser)	MAB21L1, NBEA (P268S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3292453	NM_005584.5(MAB21L1):c.793C>A (p.Pro265Thr)	MAB21L1, NBEA (P265T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3045338	NM_005584.5(MAB21L1):c.772A>C (p.Arg258=)	MAB21L1, NBEA	Single nucleotide variant (synonymous variant +1 more)	MAB21L1-related disorder	GLikely benign
Select item 666336	NM_005584.5(MAB21L1):c.737dup (p.Cys246fs)	MAB21L1, NBEA (C246fs)	Duplication (frameshift variant +1 more)	Hypoplasia of scrotum	GLikely pathogenic
Select item 634926	NM_005584.5(MAB21L1):c.735dup (p.Cys246fs)	MAB21L1, NBEA (C246fs)	Duplication (frameshift variant +1 more)	Cerebellar, ocular, craniofacial, and genital syndrome	GPathogenic
Select item 2643760	NM_005584.5(MAB21L1):c.728T>C (p.Met243Thr)	MAB21L1, NBEA (M243T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3292452	NM_005584.5(MAB21L1):c.704C>T (p.Ala235Val)	MAB21L1, NBEA (A235V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 634930	NM_005584.5(MAB21L1):c.698A>C (p.Gln233Pro)	MAB21L1, NBEA (Q233P)	Single nucleotide variant (missense variant +1 more)	Cerebellar, ocular, craniofacial, and genital syndrome	GPathogenic
Select item 2608889	NM_005584.5(MAB21L1):c.681C>A (p.Ser227Arg)	MAB21L1, NBEA (S227R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3121821	NM_005584.5(MAB21L1):c.606G>T (p.Glu202Asp)	MAB21L1, NBEA (E202D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3250701	NM_005584.5(MAB21L1):c.531C>T (p.Thr177=)	MAB21L1, NBEA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2293743	NM_005584.5(MAB21L1):c.364T>A (p.Tyr122Asn)	MAB21L1, NBEA (Y122N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595239	NM_005584.5(MAB21L1):c.217G>A (p.Glu73Lys)	MAB21L1, NBEA (E73K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2175962	NM_005584.5(MAB21L1):c.152G>A (p.Arg51Gln)	MAB21L1, NBEA (R51Q)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1879253	NM_005584.5(MAB21L1):c.152G>T (p.Arg51Leu)	MAB21L1, NBEA (R51L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1050630	NM_005584.5(MAB21L1):c.121G>A (p.Val41Ile)	MAB21L1, NBEA (V41I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2281234	NM_005584.5(MAB21L1):c.46T>C (p.Tyr16His)	MAB21L1, NBEA (Y16H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3121820	NM_005584.5(MAB21L1):c.17C>T (p.Ala6Val)	MAB21L1, NBEA (A6V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	CDX2, AMER2 +82 more	Copy number gain	not provided	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 3063306	GRCh37/hg19 13q13.2-14.11(chr13:35060982-44540846)x1	AKAP11, ALG5 +42 more	Copy number loss	not specified	GUncertain significance
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 2685462	GRCh37/hg19 13q13.3(chr13:36035608-36058874)x1	MAB21L1, NBEA	Copy number loss	not provided	GLikely pathogenic
Select item 2685461	GRCh37/hg19 13q13.3(chr13:35778509-36259617)x1	MAB21L1, NBEA	Copy number loss	not provided	GPathogenic
Select item 1810291	GRCh37/hg19 13q12.3-13.3(chr13:31841196-36667007)x3	B3GLCT, BRCA2 +12 more	Copy number gain	not provided	Gnot provided
Select item 1809134	GRCh37/hg19 13q13.3-14.11(chr13:35501428-40901176)x1	ALG5, CCDC169 +22 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 1527764	GRCh37/hg19 13q13.3(chr13:35757546-36398671)x1	MAB21L1, DCLK1 +1 more	Copy number loss	not specified	GPathogenic
Select item 1527763	GRCh37/hg19 13q13.3(chr13:35531798-39607778)	ALG5, CCDC169 +19 more	Copy number loss	not specified	GLikely pathogenic
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 1341245	GRCh37/hg19 13q13.3(chr13:35951031-36115573)x1	MAB21L1, NBEA	Copy number loss	not provided	GLikely pathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	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 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: 75