DYRK2[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	IL22, BEST3 +163 more	Copy number loss	See cases	GPathogenic
Select item 790666	NM_006482.3(DYRK2):c.33C>T (p.Pro11=)	DYRK2, LOC130008257	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3086609	NM_006482.3(DYRK2):c.173G>A (p.Ser58Asn)	DYRK2, LOC130008258 (S58N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412386	NM_006482.3(DYRK2):c.176A>G (p.Asn59Ser)	DYRK2, LOC130008258 (N59S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461562	NM_006482.3(DYRK2):c.193C>T (p.His65Tyr)	DYRK2, LOC130008258 (H65Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286570	NM_006482.3(DYRK2):c.197C>A (p.Thr66Lys)	DYRK2, LOC130008258 (T66K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086610	NM_006482.3(DYRK2):c.216C>G (p.His72Gln)	DYRK2 (H72Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3086611	NM_006482.3(DYRK2):c.224A>G (p.Asn75Ser)	DYRK2 (N75S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086612	NM_006482.3(DYRK2):c.314C>T (p.Thr105Met)	DYRK2 (T32M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594743	NM_006482.3(DYRK2):c.374G>A (p.Arg125Gln)	DYRK2 (R125Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511697	NM_006482.3(DYRK2):c.386G>A (p.Ser129Asn)	DYRK2 (S129N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274226	NM_006482.3(DYRK2):c.490A>G (p.Met164Val)	DYRK2 (M91V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086614	NM_006482.3(DYRK2):c.540A>T (p.Glu180Asp)	DYRK2 (E107D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274227	NM_006482.3(DYRK2):c.576G>T (p.Gln192His)	DYRK2 (Q192H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385476	NM_006482.3(DYRK2):c.599A>G (p.Asn200Ser)	DYRK2 (N127S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274224	NM_006482.3(DYRK2):c.602G>A (p.Gly201Asp)	DYRK2 (G201D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251314	NM_006482.3(DYRK2):c.616G>A (p.Asp206Asn)	DYRK2 (D133N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337551	NM_006482.3(DYRK2):c.742G>A (p.Val248Met)	DYRK2 (V175M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254744	NM_006482.3(DYRK2):c.820C>T (p.Arg274Trp)	DYRK2 (R201W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493730	NM_006482.3(DYRK2):c.1193G>C (p.Arg398Thr)	DYRK2 (R325T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274225	NM_006482.3(DYRK2):c.1238C>G (p.Ala413Gly)	DYRK2 (A413G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346898	NM_006482.3(DYRK2):c.1250C>T (p.Thr417Met)	DYRK2 (T344M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242888	NM_006482.3(DYRK2):c.1325C>T (p.Ser442Leu)	DYRK2 (S369L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294306	NM_006482.3(DYRK2):c.1362T>G (p.Asn454Lys)	DYRK2 (N454K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086607	NM_006482.3(DYRK2):c.1408C>G (p.Leu470Val)	DYRK2 (L397V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488376	NM_006482.3(DYRK2):c.1427T>C (p.Val476Ala)	DYRK2 (V403A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298286	NM_006482.3(DYRK2):c.1441C>T (p.Arg481Cys)	DYRK2 (R408C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388200	NM_006482.3(DYRK2):c.1494C>A (p.Asn498Lys)	DYRK2 (N498K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357388	NM_006482.3(DYRK2):c.1496C>T (p.Ala499Val)	DYRK2 (A426V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086608	NM_006482.3(DYRK2):c.1597C>T (p.Pro533Ser)	DYRK2 (P460S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589788	NM_006482.3(DYRK2):c.1702C>T (p.Pro568Ser)	DYRK2 (P495S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244245	NC_000012.11:g.(?_64173741)_(68052493_?)del	DYRK2, GNS +18 more	Deletion	Mucopolysaccharidosis, MPS-III-D	GPathogenic
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 1879249	GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	BEST3, C12orf56 +34 more	Copy number loss	not provided	GPathogenic
Select item 1340105	GRCh37/hg19 12q14.3-15(chr12:66045645-68872343)x1	CAND1, DYRK2 +10 more	Copy number loss	not provided	GPathogenic
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 40