POLDIP2[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147274	GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3	ALDOC, BLTP2 +88 more	Copy number gain	See cases	GBenign
Select item 731416	NM_015584.5(POLDIP2):c.993-8G>A	POLDIP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 789654	NM_015584.5(POLDIP2):c.942G>A (p.Ala314=)	POLDIP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 789655	NM_015584.5(POLDIP2):c.918A>G (p.Pro306=)	POLDIP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 789656	NM_015584.5(POLDIP2):c.546C>G (p.Leu182=)	POLDIP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1237395	NC_000017.11:g.28357259del	POLDIP2, TMEM199	Deletion (intron variant)	not provided	GBenign
Select item 1205722	NC_000017.11:g.28357342G>A	POLDIP2, TMEM199 (A36V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 789657	NM_015584.5(POLDIP2):c.102C>T (p.Ala34=)	POLDIP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1249093	NC_000017.11:g.28357366dup	POLDIP2, TMEM199 (P29fs)	Duplication (frameshift variant)	not provided	GBenign
Select item 1236990	NC_000017.11:g.28357368T>G	POLDIP2, TMEM199	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1273735	NC_000017.11:g.28357424=	POLDIP2, TMEM199	Single nucleotide variant (no sequence alteration)	not provided	GBenign
Select item 1284156	NC_000017.11:g.28357506_28357507dup	POLDIP2, TMEM199	Duplication (5 prime UTR variant)	not provided	GBenign
Select item 2580348	GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	FAM222B, FLOT2 +41 more	Copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 20