PAIP2B[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
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 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
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 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

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Items: 20