PABPC1L[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 812689	NM_001372179.1(PABPC1L):c.77T>A (p.Met26Lys)	LOC130065945, PABPC1L (M26K)	Single nucleotide variant (missense variant +1 more)	Inherited oocyte maturation defect	GLikely pathogenic
Select item 3303859	NM_001372179.1(PABPC1L):c.130C>T (p.Arg44Cys)	PABPC1L (R44C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398557	NM_001372179.1(PABPC1L):c.200G>A (p.Arg67Gln)	PABPC1L (R67Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2310634	NM_001372179.1(PABPC1L):c.208G>A (p.Asp70Asn)	PABPC1L (D70N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525308	NM_001372179.1(PABPC1L):c.225G>C (p.Glu75Asp)	PABPC1L (E75D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303855	NM_001372179.1(PABPC1L):c.226A>T (p.Met76Leu)	PABPC1L (M76L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294523	NM_001372179.1(PABPC1L):c.250A>C (p.Ile84Leu)	PABPC1L (I84L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325071	NM_001372179.1(PABPC1L):c.268G>C (p.Asp90His)	PABPC1L (D90H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303857	NM_001372179.1(PABPC1L):c.281G>A (p.Arg94His)	PABPC1L (R94H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207821	NM_001372179.1(PABPC1L):c.284A>G (p.Lys95Arg)	PABPC1L (K95R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556397	NM_001372179.1(PABPC1L):c.307A>G (p.Ile103Val)	PABPC1L (I103V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303854	NM_001372179.1(PABPC1L):c.400G>C (p.Glu134Gln)	PABPC1L (E134Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610500	NM_001372179.1(PABPC1L):c.400G>A (p.Glu134Lys)	PABPC1L (E134K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530372	NM_001372179.1(PABPC1L):c.403C>T (p.His135Tyr)	PABPC1L (H135Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205252	NM_001372179.1(PABPC1L):c.416G>C (p.Gly139Ala)	PABPC1L (G139A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216325	NM_001372179.1(PABPC1L):c.506T>C (p.Phe169Ser)	PABPC1L (F169S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207823	NM_001372179.1(PABPC1L):c.527G>A (p.Arg176Gln)	PABPC1L (R176Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335120	NM_001372179.1(PABPC1L):c.534G>C (p.Glu178Asp)	PABPC1L (E178D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652347	NM_001372179.1(PABPC1L):c.554C>T (p.Ala185Val)	PABPC1L (A185V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3207824	NM_001372179.1(PABPC1L):c.736A>G (p.Lys246Glu)	PABPC1L (K246E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303856	NM_001372179.1(PABPC1L):c.749A>G (p.His250Arg)	PABPC1L (H250R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540345	NM_001372179.1(PABPC1L):c.776G>A (p.Arg259Gln)	PABPC1L (R259Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2409048	NM_001372179.1(PABPC1L):c.860G>A (p.Arg287Gln)	PABPC1L (R287Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207825	NM_001372179.1(PABPC1L):c.868C>T (p.Arg290Cys)	PABPC1L (R290C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303852	NM_001372179.1(PABPC1L):c.869G>A (p.Arg290His)	PABPC1L (R290H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207826	NM_001372179.1(PABPC1L):c.878G>A (p.Gly293Asp)	PABPC1L (G293D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617076	NM_001372179.1(PABPC1L):c.944C>T (p.Ser315Phe)	PABPC1L (S315F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207827	NM_001372179.1(PABPC1L):c.955G>C (p.Val319Leu)	PABPC1L (V319L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473943	NM_001372179.1(PABPC1L):c.982G>A (p.Glu328Lys)	PABPC1L (E328K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473944	NM_001372179.1(PABPC1L):c.986G>T (p.Gly329Val)	PABPC1L (G329V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1172840	NM_001372179.1(PABPC1L):c.1037C>T (p.Ala346Val)	PABPC1L (A346V)	Single nucleotide variant (missense variant +1 more)	Female infertility due to zona pellucida defect	GPathogenic
Select item 773368	NM_001372179.1(PABPC1L):c.1071C>T (p.Ile357=)	PABPC1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3207813	NM_001372179.1(PABPC1L):c.1112A>G (p.Lys371Arg)	PABPC1L (K371R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217393	NM_001372179.1(PABPC1L):c.1147A>C (p.Met383Leu)	PABPC1L (M383L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269421	NM_001372179.1(PABPC1L):c.1169G>A (p.Arg390Gln)	PABPC1L (R390Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303853	NM_001372179.1(PABPC1L):c.1183C>T (p.Pro395Ser)	PABPC1L (P395S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472144	NM_001372179.1(PABPC1L):c.1243C>T (p.Pro415Ser)	PABPC1L (P415S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406827	NM_001372179.1(PABPC1L):c.1357G>A (p.Val453Ile)	PABPC1L (V453I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207814	NM_001372179.1(PABPC1L):c.1360C>T (p.Arg454Trp)	PABPC1L (R454W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354444	NM_001372179.1(PABPC1L):c.1382G>T (p.Arg461Leu)	PABPC1L (R461L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358423	NM_001372179.1(PABPC1L):c.1436C>T (p.Thr479Met)	PABPC1L (T479M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2402458	NM_001372179.1(PABPC1L):c.1455A>T (p.Arg485Ser)	PABPC1L (R485S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 994297	NM_001372179.1(PABPC1L):c.1517G>A (p.Arg506Gln)	PABPC1L (R506Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3303858	NM_001372179.1(PABPC1L):c.1519C>T (p.Pro507Ser)	PABPC1L (P507S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207816	NM_001372179.1(PABPC1L):c.1555A>G (p.Ser519Gly)	PABPC1L (S519G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605899	NM_001372179.1(PABPC1L):c.1564C>T (p.Arg522Trp)	PABPC1L (R522W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207817	NM_001372179.1(PABPC1L):c.1620G>A (p.Met540Ile)	PABPC1L (M540I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207818	NM_001372179.1(PABPC1L):c.1634C>T (p.Pro545Leu)	PABPC1L (P545L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322950	NM_001372179.1(PABPC1L):c.1649A>G (p.Lys550Arg)	PABPC1L (K550R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568797	NM_001372179.1(PABPC1L):c.1740C>A (p.Asp580Glu)	PABPC1L (D580E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207819	NM_001372179.1(PABPC1L):c.1792A>G (p.Ile598Val)	PABPC1L (I598V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2561824	NM_001372179.1(PABPC1L):c.1810G>A (p.Val604Met)	PABPC1L (V604M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509560	NM_001372179.1(PABPC1L):c.1831A>G (p.Met611Val)	PABPC1L (M611V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2611886	NM_001372179.1(PABPC1L):c.1841C>T (p.Pro614Leu)	PABPC1L (P614L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248279	NC_000020.10:g.(?_42223339)_(45362473_?)del	ACOT8, ADA +72 more	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	ACOT8, ADA +60 more	Deletion	Combined immunodeficiency due to STK4 deficiency	GPathogenic
Select item 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 687716	GRCh37/hg19 20q13.12(chr20:43521304-43568726)x3	PABPC1L, YWHAB	Copy number gain	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 64