30073[HGNC] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683897	NC_000011.10:g.65259530_65263529del	POLA2	Deletion	Telomere Biology Disorder	GPathogenic
Select item 2457044	NM_002689.4(POLA2):c.14C>T (p.Ala5Val)	POLA2 (A5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317156	NM_002689.4(POLA2):c.33G>C (p.Glu11Asp)	POLA2 (E11D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366557	NM_002689.4(POLA2):c.77A>G (p.Lys26Arg)	POLA2 (K26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216295	NM_002689.4(POLA2):c.140C>G (p.Ala47Gly)	POLA2 (A47G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216297	NM_002689.4(POLA2):c.144C>G (p.Phe48Leu)	POLA2 (F48L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216299	NM_002689.4(POLA2):c.189C>G (p.Asn63Lys)	POLA2 (N63K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253717	NM_002689.4(POLA2):c.211A>G (p.Ser71Gly)	POLA2 (S71G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308261	NM_002689.4(POLA2):c.224C>T (p.Ser75Leu)	POLA2 (S75L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308260	NM_002689.4(POLA2):c.245G>T (p.Cys82Phe)	POLA2 (C82F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690929	NM_002689.4(POLA2):c.287T>C (p.Ile96Thr)	POLA2 (I96T)	Single nucleotide variant (missense variant)	Telomere Biology Disorder	GLikely pathogenic
Select item 2231430	NM_002689.4(POLA2):c.301G>A (p.Glu101Lys)	POLA2 (E101K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249128	NM_002689.4(POLA2):c.428A>G (p.His143Arg)	POLA2 (H143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216300	NM_002689.4(POLA2):c.763G>A (p.Gly255Ser)	POLA2 (G255S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216301	NM_002689.4(POLA2):c.770T>C (p.Ile257Thr)	POLA2 (I257T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216302	NM_002689.4(POLA2):c.817G>A (p.Glu273Lys)	POLA2 (E273K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463006	NM_002689.4(POLA2):c.839C>T (p.Ser280Leu)	POLA2 (S280L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487616	NM_002689.4(POLA2):c.1051A>G (p.Thr351Ala)	POLA2 (T351A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543937	NM_002689.4(POLA2):c.1147G>C (p.Asp383His)	POLA2 (D383H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462767	NM_002689.4(POLA2):c.1150G>A (p.Ala384Thr)	POLA2 (A384T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216293	NM_002689.4(POLA2):c.1165G>A (p.Val389Met)	POLA2 (V389M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269613	NM_002689.4(POLA2):c.1184C>G (p.Thr395Arg)	POLA2 (T395R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383778	NM_002689.4(POLA2):c.1220G>A (p.Arg407Gln)	POLA2 (R407Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216294	NM_002689.4(POLA2):c.1249G>A (p.Gly417Ser)	POLA2 (G417S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690928	NM_002689.4(POLA2):c.1271C>T (p.Pro424Leu)	POLA2 (P424L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2517250	NM_002689.4(POLA2):c.1288C>T (p.His430Tyr)	POLA2 (H430Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590754	NM_002689.4(POLA2):c.1313C>T (p.Pro438Leu)	POLA2 (P438L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216296	NM_002689.4(POLA2):c.1447G>A (p.Glu483Lys)	POLA2 (E483K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233434	NM_002689.4(POLA2):c.1504A>G (p.Ile502Val)	POLA2 (I502V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308262	NM_002689.4(POLA2):c.1565A>G (p.Tyr522Cys)	POLA2 (Y522C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305946	NM_002689.4(POLA2):c.1571C>T (p.Ser524Leu)	POLA2 (S524L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398026	NM_002689.4(POLA2):c.1703G>A (p.Gly568Glu)	POLA2 (G568E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216298	NM_002689.4(POLA2):c.1718G>A (p.Arg573Gln)	POLA2 (R573Q)	Single nucleotide variant (missense variant)	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 2684648	GRCh37/hg19 11q13.1(chr11:64573225-65193732)x3	GPHA2, POLA2 +29 more	Copy number gain	not provided	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 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	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 634998	dup(11)(q13.1q13.1)	ATG2A, BAD +74 more	Duplication	Ependymoma	GLikely pathogenic
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)	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: 45