DYRK2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	BEST3, CAND1 +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 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 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 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 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 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	CPM, CPSF6 +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)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 35