SIK2[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 2554312	NM_015191.3(SIK2):c.40C>G (p.Pro14Ala)	SIK2 (P14A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330864	NM_015191.3(SIK2):c.61G>A (p.Asp21Asn)	SIK2 (D21N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534560	NM_015191.3(SIK2):c.128A>G (p.Lys43Arg)	SIK2 (K43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 145533	GRCh38/hg38 11q23.1(chr11:111659380-112255732)x3	ALG9, BCO2 +45 more	Copy number gain	See cases	GUncertain significance
Select item 3162256	NM_015191.3(SIK2):c.659C>T (p.Pro220Leu)	PPP2R1B, SIK2 (P220L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394215	NM_015191.3(SIK2):c.742A>G (p.Ile248Val)	PPP2R1B, SIK2 (I248V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318525	NM_015191.3(SIK2):c.769T>C (p.Ser257Pro)	PPP2R1B, SIK2 (S257P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602134	NM_015191.3(SIK2):c.836G>A (p.Arg279Lys)	PPP2R1B, SIK2 (R279K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318524	NM_015191.3(SIK2):c.848A>G (p.Tyr283Cys)	PPP2R1B, SIK2 (Y283C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318522	NM_015191.3(SIK2):c.944T>C (p.Ile315Thr)	PPP2R1B, SIK2 (I315T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251398	NM_015191.3(SIK2):c.1162G>T (p.Ala388Ser)	PPP2R1B, SIK2 (A388S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237591	NM_015191.3(SIK2):c.1193C>A (p.Ala398Asp)	PPP2R1B, SIK2 (A398D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290689	NM_015191.3(SIK2):c.1240G>A (p.Glu414Lys)	PPP2R1B, SIK2 (E414K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274366	NM_015191.3(SIK2):c.1274G>T (p.Gly425Val)	PPP2R1B, SIK2 (G425V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162244	NM_015191.3(SIK2):c.1468A>G (p.Asn490Asp)	PPP2R1B, SIK2 (N490D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162245	NM_015191.3(SIK2):c.1642A>G (p.Met548Val)	PPP2R1B, SIK2 (M548V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716321	NM_015191.3(SIK2):c.1800A>G (p.Gln600=)	PPP2R1B, SIK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3162246	NM_015191.3(SIK2):c.1877C>T (p.Pro626Leu)	PPP2R1B, SIK2 (P626L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162247	NM_015191.3(SIK2):c.1878G>A (p.Pro626=)	PPP2R1B, SIK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3162248	NM_015191.3(SIK2):c.1879G>C (p.Glu627Gln)	PPP2R1B, SIK2 (E627Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244934	NM_015191.3(SIK2):c.1904C>T (p.Ala635Val)	PPP2R1B, SIK2 (A635V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162249	NM_015191.3(SIK2):c.1958A>G (p.Gln653Arg)	PPP2R1B, SIK2 (Q653R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324056	NM_015191.3(SIK2):c.2015G>A (p.Arg672Gln)	PPP2R1B, SIK2 (R672Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290663	NM_015191.3(SIK2):c.2060C>T (p.Pro687Leu)	PPP2R1B, SIK2 (P687L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355482	NM_015191.3(SIK2):c.2114C>T (p.Pro705Leu)	PPP2R1B, SIK2 (P705L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324835	NM_015191.3(SIK2):c.2162G>A (p.Arg721Gln)	PPP2R1B, SIK2 (R721Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244485	NM_015191.3(SIK2):c.2257C>T (p.Leu753Phe)	PPP2R1B, SIK2 (L753F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342749	NM_015191.3(SIK2):c.2264G>A (p.Arg755His)	PPP2R1B, SIK2 (R755H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3162250	NM_015191.3(SIK2):c.2300C>T (p.Pro767Leu)	PPP2R1B, SIK2 (P767L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162251	NM_015191.3(SIK2):c.2315A>T (p.Gln772Leu)	PPP2R1B, SIK2 (Q772L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523156	NM_015191.3(SIK2):c.2347G>A (p.Glu783Lys)	PPP2R1B, SIK2 (E783K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460113	NM_015191.3(SIK2):c.2375G>A (p.Ser792Asn)	PPP2R1B, SIK2 (S792N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454289	NM_015191.3(SIK2):c.2434C>G (p.Pro812Ala)	PPP2R1B, SIK2 (P812A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323510	NM_015191.3(SIK2):c.2444C>T (p.Pro815Leu)	PPP2R1B, SIK2 (P815L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285600	NM_015191.3(SIK2):c.2479C>A (p.Pro827Thr)	PPP2R1B, SIK2 (P827T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162252	NM_015191.3(SIK2):c.2485C>A (p.Pro829Thr)	PPP2R1B, SIK2 (P829T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333865	NM_015191.3(SIK2):c.2560G>A (p.Ala854Thr)	PPP2R1B, SIK2 (A854T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273779	NM_015191.3(SIK2):c.2575C>G (p.Pro859Ala)	PPP2R1B, SIK2 (P859A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162253	NM_015191.3(SIK2):c.2590C>A (p.Pro864Thr)	PPP2R1B, SIK2 (P864T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348148	NM_015191.3(SIK2):c.2593T>G (p.Cys865Gly)	PPP2R1B, SIK2 (C865G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318526	NM_015191.3(SIK2):c.2615C>G (p.Ala872Gly)	PPP2R1B, SIK2 (A872G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162254	NM_015191.3(SIK2):c.2622G>C (p.Gln874His)	PPP2R1B, SIK2 (Q874H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318523	NM_015191.3(SIK2):c.2636G>A (p.Gly879Glu)	PPP2R1B, SIK2 (G879E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162255	NM_015191.3(SIK2):c.2686G>A (p.Asp896Asn)	PPP2R1B, SIK2 (D896N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246910	NM_015191.3(SIK2):c.2743G>C (p.Val915Leu)	PPP2R1B, SIK2 (V915L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041075	NC_000011.10:g.111726958T>C	PPP2R1B, SIK2	Single nucleotide variant (3 prime UTR variant)	PPP2R1B-related disorder	GLikely benign
Select item 3039930	NM_181699.3(PPP2R1B):c.2000A>T (p.Asp667Val)	PPP2R1B, SIK2 (D603V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	PPP2R1B-related disorder	GLikely benign
Select item 3217755	NM_181699.3(PPP2R1B):c.1931G>A (p.Arg644His)	PPP2R1B, SIK2 (R644H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2483798	NM_181699.3(PPP2R1B):c.1930C>T (p.Arg644Cys)	PPP2R1B, SIK2 (R580C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2424604	NC_000011.9:g.(?_111171709)_(111958707_?)del	ALG9, BTG4 +20 more	Deletion	Pheochromocytoma +3 more	GPathogenic
Select item 2424602	NC_000011.9:g.(?_111171709)_(111959745_?)del	ALG9, BTG4 +20 more	Deletion	Pheochromocytoma +3 more	GPathogenic
Select item 2422869	NC_000011.9:g.(?_111171709)_(112104278_?)dup	BCO2, ALG9 +24 more	Duplication	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GUncertain significance
Select item 1808702	GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	ALG9, ANKK1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	FDXACB1, FUT4 +94 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 1003647	NC_000011.9:g.(?_111171709)_(111965694_?)dup	ALG9, BTG4 +20 more	Duplication	Paragangliomas 1 +3 more	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 831566	NC_000011.9:g.(?_111171709)_(111965694_?)del	PIH1D2, MIR34BHG +20 more	Deletion	Pheochromocytoma +3 more	GPathogenic
Select item 815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	AASDHPPT, ACAT1 +68 more	Copy number loss	not provided	GPathogenic
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 688245	GRCh37/hg19 11q23.1-23.3(chr11:110969076-114578509)x1	ALG9, ANKK1 +45 more	Copy number loss	not provided	GUncertain significance
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	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: 69