WBP4[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2048 more	Copy number loss	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 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC126861801, LOC126861802 +2047 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 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LOC126861839, LOC126861840 +2045 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 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC124849292, LOC124849293 +2028 more	Copy number gain	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 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	ABCC4, ABHD13 +2021 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 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009548, LOC130009549 +2024 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 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009757, LOC130009758 +780 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	LOC130009739, LOC130009740 +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	AKAP11, ALG11 +735 more	Copy number gain	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 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130010180, LOC130010181 +1557 more	Copy number gain	See cases	GPathogenic
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 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	AKAP11, ALG11 +604 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LRRC63, MED4 +612 more	Copy number loss	See cases	GPathogenic
Select item 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	AKAP11, ARL11 +437 more	Copy number loss	See cases	GPathogenic
Select item 154825	GRCh38/hg38 13q14.11(chr13:39860568-43580405)x3	LOC130009633, LOC130009634 +141 more	Copy number gain	See cases	GUncertain significance
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	LINC00392, LINC00393 +1404 more	Copy number loss	See cases	GPathogenic
Select item 2309293	NM_007187.5(WBP4):c.178A>G (p.Lys60Glu)	WBP4 (K60E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218793	NM_007187.5(WBP4):c.191A>T (p.Glu64Val)	WBP4 (E64V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768612	NM_007187.5(WBP4):c.216C>T (p.Ala72=)	WBP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2544439	NM_007187.5(WBP4):c.232G>C (p.Glu78Gln)	WBP4 (E78Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1285194	NM_007187.5(WBP4):c.262+23del	WBP4	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2479788	NM_007187.5(WBP4):c.314C>T (p.Ser105Leu)	WBP4 (S105L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2500814	NM_007187.5(WBP4):c.440-1G>A	WBP4	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2500810	NM_007187.5(WBP4):c.499del (p.Thr167fs)	WBP4 (T167fs)	Deletion (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2252330	NM_007187.5(WBP4):c.505T>G (p.Trp169Gly)	WBP4 (W169G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2500811	NC_000013.11:g.41074134_41090164del	WBP4	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 2335623	NM_007187.5(WBP4):c.641T>G (p.Leu214Arg)	WBP4 (L214R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2500812	NM_007187.5(WBP4):c.668C>G (p.Ser223Ter)	WBP4 (S223*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2378866	NM_007187.5(WBP4):c.692G>T (p.Gly231Val)	WBP4 (G231V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386064	NM_007187.5(WBP4):c.721T>G (p.Ser241Ala)	WBP4 (S241A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286462	NM_007187.5(WBP4):c.739C>T (p.Pro247Ser)	WBP4 (P247S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400197	NM_007187.5(WBP4):c.799C>A (p.Gln267Lys)	WBP4 (Q267K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269927	NM_007187.5(WBP4):c.817C>G (p.Gln273Glu)	WBP4 (Q273E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289549	NM_007187.5(WBP4):c.819G>T (p.Gln273His)	WBP4 (Q273H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337842	NM_007187.5(WBP4):c.842A>G (p.Asn281Ser)	WBP4 (N281S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2500813	NM_007187.5(WBP4):c.944del (p.Pro315fs)	WBP4 (P315fs)	Deletion (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2258102	NM_007187.5(WBP4):c.1028C>T (p.Thr343Ile)	WBP4 (T343I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364273	NM_007187.5(WBP4):c.1043T>C (p.Met348Thr)	WBP4 (M348T)	Single nucleotide variant (missense variant)	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 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	CCDC169-SOHLH2, CCDC70 +119 more	Copy number loss	not provided	GPathogenic
Select item 2424733	NC_000013.10:g.(?_41367363)_(43181054_?)dup	AKAP11, DGKH +10 more	Duplication	not provided	GUncertain significance
Select item 1808770	GRCh37/hg19 13q13.3-14.11(chr13:36148057-41670428)x3	ALG5, CCDC169 +26 more	Copy number gain	not provided	GUncertain significance
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 1527767	GRCh37/hg19 13q13.3-14.11(chr13:39428367-43608103)	AKAP11, COG6 +21 more	Copy number loss	not specified	GUncertain significance
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	CLN5, CNMD +147 more	Copy number loss	not specified	GPathogenic
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 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 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 815582	GRCh37/hg19 13q14.11(chr13:41383468-41902324)x1	SLC25A15, KBTBD7 +5 more	Copy number loss	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 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	AKAP11, ALG11 +211 more	Copy number gain	not provided	GPathogenic
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

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Items: 70