ClinVar for Gene (Select 4081) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	ALOX5AP, AMER2 +82 more	Copy number gain	not provided	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 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 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 3045338	NM_005584.5(MAB21L1):c.772A>C (p.Arg258=)	MAB21L1, NBEA	Single nucleotide variant (synonymous variant +1 more)	MAB21L1-related condition	GLikely benign
Select item 3045100	NM_005584.5(MAB21L1):c.820A>G (p.Met274Val)	MAB21L1, NBEA (M274V)	Single nucleotide variant (missense variant +1 more)	MAB21L1-related condition	GLikely benign
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	CCDC169-SOHLH2, CCDC70 +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 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 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 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 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 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 2175962	NM_005584.5(MAB21L1):c.152G>A (p.Arg51Gln)	MAB21L1, NBEA (R51Q)	Single nucleotide variant (intron 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 1810291	GRCh37/hg19 13q12.3-13.3(chr13:31841196-36667007)x3	KL, MAB21L1 +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	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +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)	MIR16-1, MLNR +127 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +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	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
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 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +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 666336	NM_005584.5(MAB21L1):c.737dup (p.Cys246fs)	MAB21L1, NBEA (C246fs)	Duplication (frameshift variant +1 more)	Hypoplasia of scrotum	GLikely pathogenic
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 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 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 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 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 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	AKAP11, ALG11 +211 more	Copy number gain	not provided	GPathogenic
Select item 545160	NC_000013.11:g.(?_35060502)_(35507109_?)del	LOC109580097, LOC110121346 +5 more	Deletion	Autism	GLikely pathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	ABCC4, ABHD13 +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)	ALG11, ABCC4 +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	LOC130009739, LOC130009740 +992 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009743, LOC130009744 +2024 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LOC126861839, LOC126861840 +2045 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC124849292, LOC124849293 +2028 more	Copy number gain	See cases	GPathogenic
Select item 154802	GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3	ALG5, ALOX5AP +210 more	Copy number gain	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	ABCC4, ABHD13 +2049 more	Copy number gain	See cases	GPathogenic
Select item 150360	GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1	LOC126861732, LOC126861733 +213 more	Copy number loss	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2024 more	Copy number gain	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 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009911, LOC130009912 +938 more	Copy number gain	See cases	GPathogenic
Select item 148858	GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1	ALOX5AP, B3GLCT +202 more	Copy number loss	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC130009376, LOC130009377 +620 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	AKAP11, ALG11 +735 more	Copy number gain	See cases	GPathogenic
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2048 more	Copy number loss	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	ABCC4, ABHD13 +2021 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130010180, LOC130010181 +1557 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	RBM26-AS1, RCBTB1 +1004 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009548, LOC130009549 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	ABCC4, ABHD13 +2040 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2044 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	PDS5B, PDX1 +566 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC126861801, LOC126861802 +2047 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 57640	GRCh38/hg38 13q13.3-14.11(chr13:35232476-41375955)x1	ALG5, CCDC169 +146 more	Copy number loss	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009757, LOC130009758 +780 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 70