"GeneDx"[submitter] AND "LOC130009266"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 1211988	NM_006231.4(POLE):c.62+220C>T	LOC130009266, POLE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676485	NM_006231.4(POLE):c.62+97T>G	LOC130009266, POLE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 422620	NM_006231.4(POLE):c.62+13_62+15delinsTTT	LOC130009266, POLE	Indel (intron variant)	not specified	GLikely benign
Select item 380208	NM_006231.4(POLE):c.62+15C>T	LOC130009266, POLE	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign
Select item 405710	NM_006231.4(POLE):c.62+5G>A	LOC130009266, POLE	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 648304	NM_006231.4(POLE):c.52G>C (p.Glu18Gln)	LOC130009266, POLE (E18Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 240553	NM_006231.4(POLE):c.51C>G (p.Gly17=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 390601	NM_006231.4(POLE):c.48T>C (p.Asp16=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 405636	NM_006231.4(POLE):c.43G>A (p.Ala15Thr)	LOC130009266, POLE (A15T)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +1 more	GUncertain significance
Select item 390063	NM_006231.4(POLE):c.42C>A (p.Gly14=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1306641	NM_006231.4(POLE):c.41G>T (p.Gly14Val)	LOC130009266, POLE (G14V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 518092	NM_006231.4(POLE):c.39A>G (p.Pro13=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 540767	NM_006231.4(POLE):c.34G>A (p.Asp12Asn)	LOC130009266, POLE (D12N)	Single nucleotide variant (missense variant)	POLE-related disorder +5 more	GUncertain significance
Select item 1041786	NM_006231.4(POLE):c.32C>G (p.Ala11Gly)	LOC130009266, POLE (A11G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421573	NM_006231.4(POLE):c.20_29dup (p.Asp12fs)	LOC130009266, POLE (D12fs)	Duplication (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 413491	NM_006231.4(POLE):c.21G>A (p.Gly7=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 405817	NM_006231.4(POLE):c.17G>A (p.Gly6Asp)	LOC130009266, POLE (G6D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 952756	NM_006231.4(POLE):c.16G>A (p.Gly6Ser)	LOC130009266, POLE (G6S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 218680	NM_006231.4(POLE):c.16G>C (p.Gly6Arg)	LOC130009266, POLE (G6R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2143611	NM_006231.4(POLE):c.8T>C (p.Leu3Pro)	LOC130009266, POLE (L3P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 405897	NM_006231.4(POLE):c.5C>T (p.Ser2Phe)	LOC130009266, POLE (S2F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 473569	NM_006231.4(POLE):c.2T>A (p.Met1Lys)	LOC130009266, POLE (M1K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 246154	NM_006231.4(POLE):c.2T>C (p.Met1Thr)	LOC130009266, POLE (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 405608	NM_006231.4(POLE):c.1A>G (p.Met1Val)	LOC130009266, POLE (M1V)	Single nucleotide variant (missense variant +1 more)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +4 more	GConflicting classifications of pathogenicity
Select item 405585	NM_006231.4(POLE):c.1A>C (p.Met1Leu)	LOC130009266, POLE (M1L)	Single nucleotide variant (missense variant +1 more)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +4 more	GConflicting classifications of pathogenicity
Select item 240415	NM_006231.4(POLE):c.1A>T (p.Met1Leu)	LOC130009266, POLE (M1L)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 12 +3 more	GConflicting classifications of pathogenicity
Select item 421456	NM_006231.4(POLE):c.-6G>C	LOC130009266, POLE	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 246298	NM_006231.4(POLE):c.-6G>A	LOC130009266, POLE	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 423673	NM_006231.4(POLE):c.-7C>T	LOC130009266, POLE	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 383933	NM_006231.4(POLE):c.-8A>G	LOC130009266, POLE	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 512346	NM_006231.4(POLE):c.-9A>G	LOC130009266, POLE	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 382178	NM_006231.4(POLE):c.-15G>A	LOC130009266, POLE	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 509744	NM_006231.4(POLE):c.-18G>A	LOC130009266, POLE	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 517029	NM_006231.4(POLE):c.-25A>G	LOC130009266, POLE	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 514116	NM_006231.3(POLE):c.-32delC	LOC130009266, POLE	Deletion	not specified	GLikely benign
Select item 381783	NM_006231.4(POLE):c.-29C>G	LOC130009266, POLE	Single nucleotide variant	Colorectal cancer, susceptibility to, 12 +1 more	GLikely benign
Select item 512962	NM_006231.3(POLE):c.-30C>T	LOC130009266, POLE	Single nucleotide variant	not specified	GLikely benign
Select item 512859	NM_006231.3(POLE):c.-32C>A	LOC130009266, POLE	Single nucleotide variant	not specified	GLikely benign
Select item 389302	NM_006231.4(POLE):c.-32C>G	LOC130009266, POLE	Single nucleotide variant	not specified	GLikely benign
Select item 420299	NM_006231.4(POLE):c.-38delA	LOC130009266, POLE	Deletion	not specified	GLikely benign
Select item 380430	NM_006231.4(POLE):c.-44C>A	LOC130009266, POLE	Single nucleotide variant	not specified	GLikely benign
Select item 421645	NM_006231.3(POLE):c.-45G>A	LOC130009266, POLE	Single nucleotide variant	not provided	GUncertain significance
Select item 422515	NM_006231.4(POLE):c.-47G>T	LOC130009266, POLE	Single nucleotide variant	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1181025	NC_000012.12:g.132687678C>T	LOC130009266, POLE +1 more (P3L)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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Items: 46