PABPC1L[gene] - ClinVar

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

Search results

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	LOC130065861, LOC130065862 +568 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	LOC125387319, LOC125387320 +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 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)	Inborn genetic diseases	GUncertain significance
Select item 2525308	NM_001372179.1(PABPC1L):c.225G>C (p.Glu75Asp)	PABPC1L (E75D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294523	NM_001372179.1(PABPC1L):c.250A>C (p.Ile84Leu)	PABPC1L (I84L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325071	NM_001372179.1(PABPC1L):c.268G>C (p.Asp90His)	PABPC1L (D90H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556397	NM_001372179.1(PABPC1L):c.307A>G (p.Ile103Val)	PABPC1L (I103V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610500	NM_001372179.1(PABPC1L):c.400G>A (p.Glu134Lys)	PABPC1L (E134K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530372	NM_001372179.1(PABPC1L):c.403C>T (p.His135Tyr)	PABPC1L (H135Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205252	NM_001372179.1(PABPC1L):c.416G>C (p.Gly139Ala)	PABPC1L (G139A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216325	NM_001372179.1(PABPC1L):c.506T>C (p.Phe169Ser)	PABPC1L (F169S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335120	NM_001372179.1(PABPC1L):c.534G>C (p.Glu178Asp)	PABPC1L (E178D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2540345	NM_001372179.1(PABPC1L):c.776G>A (p.Arg259Gln)	PABPC1L (R259Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2409048	NM_001372179.1(PABPC1L):c.860G>A (p.Arg287Gln)	PABPC1L (R287Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2617076	NM_001372179.1(PABPC1L):c.944C>T (p.Ser315Phe)	PABPC1L (S315F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473943	NM_001372179.1(PABPC1L):c.982G>A (p.Glu328Lys)	PABPC1L (E328K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473944	NM_001372179.1(PABPC1L):c.986G>T (p.Gly329Val)	PABPC1L (G329V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2217393	NM_001372179.1(PABPC1L):c.1147A>C (p.Met383Leu)	PABPC1L (M383L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269421	NM_001372179.1(PABPC1L):c.1169G>A (p.Arg390Gln)	PABPC1L (R390Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472144	NM_001372179.1(PABPC1L):c.1243C>T (p.Pro415Ser)	PABPC1L (P415S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406827	NM_001372179.1(PABPC1L):c.1357G>A (p.Val453Ile)	PABPC1L (V453I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354444	NM_001372179.1(PABPC1L):c.1382G>T (p.Arg461Leu)	PABPC1L (R461L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358423	NM_001372179.1(PABPC1L):c.1436C>T (p.Thr479Met)	PABPC1L (T479M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2402458	NM_001372179.1(PABPC1L):c.1455A>T (p.Arg485Ser)	PABPC1L (R485S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 994297	NM_001372179.1(PABPC1L):c.1517G>A (p.Arg506Gln)	PABPC1L (R506Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2605899	NM_001372179.1(PABPC1L):c.1564C>T (p.Arg522Trp)	PABPC1L (R522W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322950	NM_001372179.1(PABPC1L):c.1649A>G (p.Lys550Arg)	PABPC1L (K550R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2568797	NM_001372179.1(PABPC1L):c.1740C>A (p.Asp580Glu)	PABPC1L (D580E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2561824	NM_001372179.1(PABPC1L):c.1810G>A (p.Val604Met)	PABPC1L (V604M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2509560	NM_001372179.1(PABPC1L):c.1831A>G (p.Met611Val)	PABPC1L (M611V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2611886	NM_001372179.1(PABPC1L):c.1841C>T (p.Pro614Leu)	PABPC1L (P614L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	GDAP1L1, GTSF1L +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	KIF3B, KIZ +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 43