POLD4[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	LOC130006205, LOC130006206 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	RIN1, RPS6KB2 +212 more	Copy number gain	See cases	GPathogenic
Select item 58892	GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1	ACY3, AIP +129 more	Copy number loss	See cases	GPathogenic
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 2350245	NM_021173.5(POLD4):c.241C>A (p.Pro81Thr)	LOC100130987, POLD4 (P81T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216314	NM_021173.5(POLD4):c.197G>T (p.Arg66Leu)	LOC100130987, POLD4 (R66L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2642013	NM_021173.5(POLD4):c.174C>T (p.Tyr58=)	LOC100130987, POLD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2381755	NM_021173.5(POLD4):c.166T>C (p.Trp56Arg)	LOC100130987, POLD4 (W56R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310789	NM_021173.5(POLD4):c.55G>A (p.Gly19Arg)	LOC100130987, POLD4 (G19R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320541	NM_021173.5(POLD4):c.35C>T (p.Pro12Leu)	LOC100130987, POLD4 (P12L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815437	GRCh37/hg19 11q13.2(chr11:66820585-67979510)x3	ALDH3B2, ACY3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 687044	GRCh37/hg19 11q13.2(chr11:67081259-67471729)x3	ACY3, AIP +21 more	Copy number gain	not provided	GUncertain significance
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +1289 more	Copy number gain	See cases	GPathogenic
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	GRK2, LRFN4 +57 more	Copy number gain	See cases	GUncertain significance

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Items: 22