20932[HGNC] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 3250356	NM_006591.3(POLD3):c.29T>C (p.Ile10Thr)	POLD3 (I10T)	Single nucleotide variant (5 prime UTR variant +2 more)	Immunodeficiency 122	GPathogenic
Select item 3216313	NM_006591.3(POLD3):c.83A>G (p.Tyr28Cys)	POLD3 (Y28C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3046883	NM_006591.3(POLD3):c.159A>G (p.Ser53=)	POLD3	Single nucleotide variant (synonymous variant +1 more)	POLD3-related disorder	GLikely benign
Select item 2268764	NM_006591.3(POLD3):c.371G>A (p.Ser124Asn)	POLD3 (S85N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273676	NM_006591.3(POLD3):c.449C>G (p.Ser150Trp)	POLD3 (S111W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785370	NM_006591.3(POLD3):c.449C>T (p.Ser150Leu)	POLD3 (S111L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2369286	NM_006591.3(POLD3):c.524A>G (p.Asn175Ser)	POLD3 (N136S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3216312	NM_006591.3(POLD3):c.629A>C (p.Glu210Ala)	POLD3 (E210A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3052473	NM_006591.3(POLD3):c.652G>A (p.Val218Ile)	POLD3 (V179I +1 more)	Single nucleotide variant (missense variant +1 more)	POLD3-related disorder	GBenign
Select item 2515631	NM_006591.3(POLD3):c.890A>C (p.Glu297Ala)	POLD3 (E258A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272499	NM_006591.3(POLD3):c.901G>C (p.Gly301Arg)	POLD3 (G262R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785371	NM_006591.3(POLD3):c.932C>T (p.Thr311Ile)	POLD3 (T311I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2211350	NM_006591.3(POLD3):c.938A>G (p.Glu313Gly)	POLD3 (E313G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308323	NM_006591.3(POLD3):c.941C>T (p.Thr314Ile)	POLD3 (T314I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474636	NM_006591.3(POLD3):c.1041G>T (p.Glu347Asp)	POLD3 (E308D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239949	NM_006591.3(POLD3):c.1060C>T (p.Pro354Ser)	POLD3 (P315S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609031	NM_006591.3(POLD3):c.1094C>G (p.Thr365Ser)	POLD3 (T365S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306462	NM_006591.3(POLD3):c.1099C>T (p.Pro367Ser)	POLD3 (P328S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041529	NM_006591.3(POLD3):c.1102G>C (p.Glu368Gln)	POLD3 (E329Q +1 more)	Single nucleotide variant (missense variant +1 more)	POLD3-related disorder	GBenign
Select item 3250357	NM_006591.3(POLD3):c.1118A>C (p.Lys373Thr)	POLD3 (K373T +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 122	GPathogenic
Select item 2282708	NM_006591.3(POLD3):c.1153C>T (p.Arg385Cys)	POLD3 (R385C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262545	NM_006591.3(POLD3):c.1216G>A (p.Glu406Lys)	POLD3 (E367K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308322	NM_006591.3(POLD3):c.1282C>T (p.Pro428Ser)	POLD3 (P389S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216311	NM_006591.3(POLD3):c.1289T>G (p.Met430Arg)	POLD3 (M391R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 155201	GRCh38/hg38 11q13.4(chr11:74648822-74907890)x1	CHRDL2, LOC108281147 +7 more	Copy number loss	See cases	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1341216	GRCh37/hg19 11q13.4(chr11:74335510-74439153)x1	CHRDL2, POLD3	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 35