poly (A)-binding protein I - ClinVar - NCBI

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Did you mean: poly (A) binding protein i (1248 items)

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 58072	GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3	BMP8A, BMP8B +129 more	Copy number gain	See cases	GPathogenic
Select item 152767	GRCh38/hg38 1p34.3(chr1:39447541-39569990)x3	BMP8A, LOC129930214 +7 more	Copy number gain	See cases	GUncertain significance
Select item 2308217	NM_001135653.2(PABPC4):c.1961C>T (p.Ala654Val)	PABPC4 (A625V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600722	NM_001135653.2(PABPC4):c.1873C>G (p.Pro625Ala)	PABPC4 (P609A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265624	NM_001135653.2(PABPC4):c.1678C>G (p.Pro560Ala)	PABPC4 (P544A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252649	NM_001135653.2(PABPC4):c.1663C>G (p.Leu555Val)	PABPC4 (L526V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207831	NM_001135653.2(PABPC4):c.1625C>T (p.Ala542Val)	PABPC4 (A513V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386539	NM_001135653.2(PABPC4):c.1576G>A (p.Ala526Thr)	PABPC4 (A526T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241230	NM_001135653.2(PABPC4):c.1573C>T (p.Arg525Cys)	PABPC4 (R509C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284383	NM_001135653.2(PABPC4):c.1423C>T (p.Arg475Cys)	PABPC4 (R475C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207830	NM_001135653.2(PABPC4):c.1407T>A (p.Gly469=)	PABPC4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2221328	NM_001135653.2(PABPC4):c.1381A>C (p.Thr461Pro)	PABPC4 (T461P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207829	NM_001135653.2(PABPC4):c.1012G>A (p.Val338Ile)	PABPC4, PABPC4-AS1 (V338I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207834	NM_001135653.2(PABPC4):c.785T>C (p.Phe262Ser)	PABPC4, PABPC4-AS1 (F262S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221304	NM_001135653.2(PABPC4):c.778A>G (p.Ile260Val)	PABPC4, PABPC4-AS1 (I260V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3207833	NM_001135653.2(PABPC4):c.676C>G (p.Pro226Ala)	PABPC4, PABPC4-AS1 (P226A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207832	NM_001135653.2(PABPC4):c.496C>T (p.Arg166Cys)	PABPC4, PABPC4-AS1 (R166C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	ABCB10, ACBD3 +309 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 3247986	NC_000001.10:g.(?_225591005)_(227174438_?)del	ACBD3, COQ8A +16 more	Deletion	not provided	GPathogenic
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527592	GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227)	ABCB10, ACBD3 +55 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527559	GRCh37/hg19 1q41-42.13(chr1:221303919-227461343)	ACBD3, AIDA +38 more	Copy number gain	not specified	GPathogenic
Select item 1526937	GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)	AKIRIN1, BMP8A +40 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 1410588	NC_000001.10:g.(?_225591005)_(227174438_?)dup	ACBD3, COQ8A +16 more	Duplication	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 988903	GRCh37/hg19 1p34.3-34.2(chr1:39340597-40603856)x1	CAP1, GJA9 +18 more	Copy number loss	not provided	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814171	GRCh37/hg19 1q42.12(chr1:226064744-226924455)x3	ITPKB, ACBD3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	not provided	GPathogenic
Select item 814166	GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1	PSEN2, FBXO28 +42 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 685011	GRCh37/hg19 1p34.3-34.2(chr1:40007947-40280565)x3	BMP8B, HEYL +6 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 1332908	NM_001135651.3(EIF2AK2):c.388G>A (p.Gly130Arg)	EIF2AK2 (G130R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 428474	NM_000251.3(MSH2):c.942+2T>A	MSH2	Single nucleotide variant (splice donor variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GPathogenic/Likely pathogenic
Select item 154940	GRCh38/hg38 2p16.1-15(chr2:58031916-63611810)x1	B3GNT2, BCL11A +177 more	Copy number loss	See cases	GPathogenic
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 60148	GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1	B3GNT2, BCL11A +187 more	Copy number loss	See cases	GPathogenic
Select item 1707458	Single allele	AAK1, ADD2 +107 more	Duplication	not specified	GUncertain significance
Select item 2276941	NM_006196.4(PCBP1):c.34G>A (p.Val12Met)	PCBP1, PCBP1-AS1 (V12M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1321982	NM_006196.4(PCBP1):c.137G>A (p.Arg46Gln)	PCBP1, PCBP1-AS1 (R46Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 208707	NM_006196.4(PCBP1):c.550C>T (p.Gln184Ter)	PCBP1 (Q184*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GLikely pathogenic
Select item 2569443	NM_006196.4(PCBP1):c.649C>A (p.Pro217Thr)	PCBP1 (P217T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304526	NM_006196.4(PCBP1):c.653C>T (p.Pro218Leu)	PCBP1 (P218L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304527	NM_006196.4(PCBP1):c.688A>G (p.Ile230Val)	PCBP1 (I230V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 144474	GRCh38/hg38 2p13.3-13.2(chr2:70709155-72346899)x3	ADD2, ANKRD53 +48 more	Copy number gain	See cases	GUncertain significance
Select item 3303960	NM_020459.1(PAIP2B):c.198T>G (p.Asp66Glu)	PAIP2B (D66E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288179	NM_020459.1(PAIP2B):c.105G>C (p.Met35Ile)	PAIP2B (M35I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524184	NM_020459.1(PAIP2B):c.66T>A (p.Ser22Arg)	PAIP2B (S22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367786	NM_020459.1(PAIP2B):c.59G>A (p.Gly20Glu)	PAIP2B (G20E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252543	NM_020459.1(PAIP2B):c.32C>T (p.Pro11Leu)	PAIP2B (P11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208030	NM_020459.1(PAIP2B):c.28T>C (p.Ser10Pro)	PAIP2B (S10P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 546348	NM_014795.4(ZEB2):c.246GGAAGA[3] (p.Glu84_Glu85dup)	ZEB2	Microsatellite (inframe_insertion)	Inborn genetic diseases +1 more	GUncertain significance
Select item 142135	NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg)	BARD1 (C645R +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +4 more	GBenign/Likely benign
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062658	GRCh37/hg19 2p14-13.3(chr2:67702012-70506257)x1	AAK1, ANTXR1 +24 more	Copy number loss	not specified	GUncertain significance
Select item 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	AAK1, ACTR2 +43 more	Copy number loss	not provided	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 685892	GRCh37/hg19 2p13.3-13.2(chr2:71164124-71535431)x3	ANKRD53, ATP6V1B1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 562562	GRCh37/hg19 2p13.3-13.2(chr2:71435253-71724760)x3	DYSF, ZNF638 +1 more	Copy number gain	not provided	GUncertain significance
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 221423	GRCh37/hg19 2p13.3(chr2:70043280-70315412)x3	ASPRV1, GMCL1 +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

Did you mean: poly (A) binding protein i (1248 items)

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