PABPC4[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	ARTN, ATP6V0B +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)	Inborn genetic diseases	GUncertain significance
Select item 2600722	NM_001135653.2(PABPC4):c.1873C>G (p.Pro625Ala)	PABPC4 (P609A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265624	NM_001135653.2(PABPC4):c.1678C>G (p.Pro560Ala)	PABPC4 (P544A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252649	NM_001135653.2(PABPC4):c.1663C>G (p.Leu555Val)	PABPC4 (L526V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386539	NM_001135653.2(PABPC4):c.1576G>A (p.Ala526Thr)	PABPC4 (A526T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241230	NM_001135653.2(PABPC4):c.1573C>T (p.Arg525Cys)	PABPC4 (R509C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284383	NM_001135653.2(PABPC4):c.1423C>T (p.Arg475Cys)	PABPC4 (R475C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221328	NM_001135653.2(PABPC4):c.1381A>C (p.Thr461Pro)	PABPC4 (T461P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221304	NM_001135653.2(PABPC4):c.778A>G (p.Ile260Val)	PABPC4-AS1, PABPC4 (I260V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 988903	GRCh37/hg19 1p34.3-34.2(chr1:39340597-40603856)x1	CAP1, GJA9 +18 more	Copy number loss	not provided	GUncertain significance
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	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	CLSPN, COL8A2 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 22