LARP4B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 154088	GRCh38/hg38 10p15.3(chr10:54086-1600803)x1	ADARB2, ADARB2-AS1 +54 more	Copy number loss	See cases	GPathogenic
Select item 58710	GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1	ADARB2, ADARB2-AS1 +276 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150324	GRCh38/hg38 10p15.3(chr10:70478-1042794)x1	DIP2C, DIP2C-AS1 +32 more	Copy number loss	See cases	GLikely pathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 58711	GRCh38/hg38 10p15.3(chr10:87458-2482736)x1	ADARB2, ADARB2-AS1 +66 more	Copy number loss	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 146280	GRCh38/hg38 10p15.3-15.2(chr10:90421-3058742)x1	ADARB2, ADARB2-AS1 +71 more	Copy number loss	See cases	GLikely pathogenic
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC130003153, LOC130003154 +421 more	Copy number gain	See cases	GPathogenic
Select item 57431	GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3	ADARB2, ADARB2-AS1 +298 more	Copy number gain	See cases	GPathogenic
Select item 57407	GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3	ADARB2, ADARB2-AS1 +352 more	Copy number gain	See cases	GPathogenic
Select item 149271	GRCh38/hg38 10p15.3-15.2(chr10:538646-3636571)x1	ADARB2, ADARB2-AS1 +86 more	Copy number loss	See cases	GUncertain significance
Select item 57853	GRCh38/hg38 10p15.3(chr10:730608-1358880)x3	ADARB2, GTPBP4 +27 more	Copy number gain	See cases	GUncertain significance
Select item 2369179	NM_015155.3(LARP4B):c.2201C>G (p.Pro734Arg)	LARP4B (P734R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561578	NM_015155.3(LARP4B):c.2153C>T (p.Ser718Leu)	LARP4B (S753L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325441	NM_015155.3(LARP4B):c.2150C>A (p.Pro717His)	LARP4B (P717H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479314	NM_015155.3(LARP4B):c.2147G>A (p.Arg716Gln)	LARP4B (R716Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353470	NM_015155.3(LARP4B):c.2080C>T (p.Arg694Trp)	LARP4B (R729W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684851	NM_015155.3(LARP4B):c.2079C>A (p.Tyr693Ter)	LARP4B (Y693* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 3290144	NM_015155.3(LARP4B):c.2060C>T (p.Ala687Val)	LARP4B (A687V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326609	NM_015155.3(LARP4B):c.2019G>C (p.Lys673Asn)	LARP4B (K673N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 752716	NM_015155.3(LARP4B):c.2007A>G (p.Gln669=)	LARP4B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3290138	NM_015155.3(LARP4B):c.1889C>T (p.Ala630Val)	LARP4B (A630V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228481	NM_015155.3(LARP4B):c.1885A>G (p.Thr629Ala)	LARP4B (T629A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117859	NM_015155.3(LARP4B):c.1845G>C (p.Gln615His)	LARP4B (Q615H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117858	NM_015155.3(LARP4B):c.1821T>A (p.Asp607Glu)	LARP4B (D607E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2324150	NM_015155.3(LARP4B):c.1795T>A (p.Ser599Thr)	LARP4B (S599T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361864	NM_015155.3(LARP4B):c.1784C>T (p.Thr595Met)	LARP4B (T595M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290140	NM_015155.3(LARP4B):c.1783A>G (p.Thr595Ala)	LARP4B (T595A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3117857	NM_015155.3(LARP4B):c.1738G>T (p.Val580Phe)	LARP4B (V580F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640267	NM_015155.3(LARP4B):c.1736T>C (p.Val579Ala)	LARP4B (V579A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 747170	NM_015155.3(LARP4B):c.1716C>T (p.Ser572=)	LARP4B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3290145	NM_015155.3(LARP4B):c.1673T>C (p.Ile558Thr)	LARP4B (I558T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230736	NM_015155.3(LARP4B):c.1663T>C (p.Ser555Pro)	LARP4B (S555P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117856	NM_015155.3(LARP4B):c.1636A>C (p.Thr546Pro)	LARP4B (T546P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377592	NM_015155.3(LARP4B):c.1577G>A (p.Ser526Asn)	LARP4B (S526N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204259	NM_015155.3(LARP4B):c.1552A>G (p.Thr518Ala)	LARP4B (T518A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689362	NM_015155.3(LARP4B):c.1484+1G>A	LARP4B	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3117855	NM_015155.3(LARP4B):c.1436G>A (p.Arg479His)	LARP4B (R479H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613226	NM_015155.3(LARP4B):c.1433G>A (p.Gly478Glu)	LARP4B (G478E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509683	NM_015155.3(LARP4B):c.1379C>G (p.Thr460Ser)	LARP4B (T460S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473083	NM_015155.3(LARP4B):c.1379C>T (p.Thr460Ile)	LARP4B (T460I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1801767	NM_015155.3(LARP4B):c.1345G>T (p.Val449Phe)	LARP4B (V449F)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GLikely pathogenic
Select item 3117854	NM_015155.3(LARP4B):c.1331G>A (p.Arg444Gln)	LARP4B (R444Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316956	NM_015155.3(LARP4B):c.1309A>G (p.Ile437Val)	LARP4B (I437V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405914	NM_015155.3(LARP4B):c.1262C>T (p.Ala421Val)	LARP4B (A421V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494861	NM_015155.3(LARP4B):c.1222C>T (p.Pro408Ser)	LARP4B (P408S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412412	NM_015155.3(LARP4B):c.1190C>T (p.Ala397Val)	LARP4B (A397V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117853	NM_015155.3(LARP4B):c.1142A>G (p.Asn381Ser)	LARP4B (N381S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778457	NM_015155.3(LARP4B):c.1126-6A>T	LARP4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3117852	NM_015155.3(LARP4B):c.1100C>T (p.Thr367Met)	LARP4B (T367M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464724	NM_015155.3(LARP4B):c.1088C>T (p.Thr363Met)	LARP4B (T363M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 996689	NM_015155.3(LARP4B):c.801_802del (p.Cys267_Glu268delinsTer)	LARP4B	Microsatellite (nonsense)	Autism spectrum disorder	Gassociation
Select item 3117862	NM_015155.3(LARP4B):c.619G>A (p.Val207Met)	LARP4B (V207M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2522220	NM_015155.3(LARP4B):c.602A>G (p.Lys201Arg)	LARP4B (K201R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290141	NM_015155.3(LARP4B):c.409C>G (p.Leu137Val)	LARP4B (L137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290137	NM_015155.3(LARP4B):c.388G>T (p.Gly130Cys)	LARP4B (G130C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282371	NM_015155.3(LARP4B):c.370A>G (p.Met124Val)	LARP4B (M124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377516	NM_015155.3(LARP4B):c.334G>A (p.Ala112Thr)	LARP4B (A112T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117861	NM_015155.3(LARP4B):c.277C>T (p.Arg93Cys)	LARP4B (R93C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3290139	NM_015155.3(LARP4B):c.218G>C (p.Ser73Thr)	LARP4B (S73T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117860	NM_015155.3(LARP4B):c.218G>A (p.Ser73Asn)	LARP4B (S73N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640268	NM_015155.3(LARP4B):c.142-7589C>G	LARP4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2640269	NM_015155.3(LARP4B):c.142-8136G>T	LARP4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3290143	NM_015155.3(LARP4B):c.79C>G (p.Leu27Val)	LARP4B (L27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608982	NM_015155.3(LARP4B):c.19G>A (p.Ala7Thr)	LARP4B (A7T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3290142	NM_015155.3(LARP4B):c.16G>A (p.Asp6Asn)	LARP4B (D6N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154592	GRCh38/hg38 10p15.3(chr10:899498-1339873)x3	ADARB2, GTPBP4 +25 more	Copy number gain	See cases	GUncertain significance
Select item 148515	GRCh38/hg38 10p15.3(chr10:918720-1843751)x4	ADARB2, ADARB2-AS1 +37 more	Copy number gain	See cases	GLikely benign
Select item 3148908	GRCh37/hg19 10p15.3(chr10:100048-1247374)x1	ADARB2, DIP2C +6 more	Copy number loss	See cases	GPathogenic
Select item 1809451	GRCh37/hg19 10p15.3(chr10:307769-1845696)x4	ADARB2, DIP2C +5 more	Copy number gain	not provided	GUncertain significance
Select item 1808290	GRCh37/hg19 10p15.3(chr10:885585-1297727)x3	ADARB2, GTPBP4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1807587	GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3	CDC123, CELF2 +47 more	Copy number gain	not provided	GUncertain significance
Select item 1527574	GRCh37/hg19 10p15.3(chr10:820472-1526667)	ADARB2, GTPBP4 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527573	GRCh37/hg19 10p15.3(chr10:513941-858033)	DIP2C, LARP4B	Copy number gain	not specified	GUncertain significance
Select item 1339885	GRCh37/hg19 10p15.3-15.1(chr10:100027-5071398)x1	ADARB2, AKR1C1 +12 more	Copy number loss	10p15.3 microdeletion syndrome	Gnot provided
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1330170	GRCh37/hg19 10p15.3-15.1(chr10:60501-5238964)x1	ADARB2, AKR1C1 +15 more	Copy number loss	Neurooculocardiogenitourinary syndrome	GPathogenic
Select item 1077184	Single allele	AKR1C1, AKR1C2 +30 more	Deletion	not provided	GPathogenic
Select item 980912	GRCh37/hg19 10p15.3(chr10:861722-1064023)x3	GTPBP4, LARP4B	Copy number gain	not provided	GUncertain significance
Select item 980373	GRCh37/hg19 10p15.3(chr10:100026-881198)x1	ZMYND11, DIP2C +1 more	Copy number loss	not provided	GPathogenic
Select item 980372	GRCh37/hg19 10p15.3(chr10:116045-954771)x1	LARP4B, DIP2C +1 more	Copy number loss	not provided	GPathogenic
Select item 980370	GRCh37/hg19 10p15.3(chr10:100026-1281266)x1	WDR37, ZMYND11 +6 more	Copy number loss	not provided	GPathogenic
Select item 815310	GRCh37/hg19 10p15.3(chr10:302598-950809)x3	DIP2C, LARP4B	Copy number gain	not provided	GLikely benign
Select item 815309	GRCh37/hg19 10p15.3-15.1(chr10:100026-4433206)x3	IDI2, PFKP +9 more	Copy number gain	not provided	GPathogenic
Select item 687734	GRCh37/hg19 10p15.3(chr10:444241-881198)x3	DIP2C, LARP4B	Copy number gain	not provided	GUncertain significance
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 563772	GRCh37/hg19 10p15.3(chr10:116045-1573221)x1	DIP2C, WDR37 +6 more	Copy number loss	not provided	GPathogenic
Select item 523245	GRCh37/hg19 10p15.3(chr10:751998-1748992)	ADARB2, GTPBP4 +4 more	Copy number gain	Cognitive impairment +1 more	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442761	GRCh37/hg19 10p15.3-15.1(chr10:100026-4853435)x3	ADARB2, DIP2C +9 more	Copy number gain	See cases	GUncertain significance
Select item 442589	GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1	ADARB2, AKR1C1 +47 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441537	GRCh37/hg19 10p15.3-15.1(chr10:100026-4761588)x1	LARP4B, IDI2 +9 more	Copy number loss	See cases	GPathogenic
Select item 395536	GRCh37/hg19 10p15.3-14(chr10:136361-8850609)x1	ADARB2, AKR1C1 +37 more	Copy number loss	See cases	GPathogenic

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