Related gene-specific medical variations for Gene (Select 23235) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3041075	NM_015191.3(SIK2):c.*2829T>C	PPP2R1B, SIK2	Single nucleotide variant (3 prime UTR variant)	PPP2R1B-related condition	GLikely benign
Select item 3039930	NM_015191.3(SIK2):c.*2840T>A	PPP2R1B, SIK2 (D603V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	PPP2R1B-related condition	GLikely benign
Select item 2602134	NM_015191.3(SIK2):c.836G>A (p.Arg279Lys)	PPP2R1B, SIK2 (R279K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523156	NM_015191.3(SIK2):c.2347G>A (p.Glu783Lys)	PPP2R1B, SIK2 (E783K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483798	NM_015191.3(SIK2):c.*2910G>A	PPP2R1B, SIK2 (R580C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460113	NM_015191.3(SIK2):c.2375G>A (p.Ser792Asn)	PPP2R1B, SIK2 (S792N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454289	NM_015191.3(SIK2):c.2434C>G (p.Pro812Ala)	PPP2R1B, SIK2 (P812A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394215	NM_015191.3(SIK2):c.742A>G (p.Ile248Val)	SIK2, PPP2R1B (I248V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355482	NM_015191.3(SIK2):c.2114C>T (p.Pro705Leu)	PPP2R1B, SIK2 (P705L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348148	NM_015191.3(SIK2):c.2593T>G (p.Cys865Gly)	PPP2R1B, SIK2 (C865G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342749	NM_015191.3(SIK2):c.2264G>A (p.Arg755His)	PPP2R1B, SIK2 (R755H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2333865	NM_015191.3(SIK2):c.2560G>A (p.Ala854Thr)	SIK2, PPP2R1B (A854T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324835	NM_015191.3(SIK2):c.2162G>A (p.Arg721Gln)	SIK2, PPP2R1B (R721Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324056	NM_015191.3(SIK2):c.2015G>A (p.Arg672Gln)	PPP2R1B, SIK2 (R672Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323510	NM_015191.3(SIK2):c.2444C>T (p.Pro815Leu)	PPP2R1B, SIK2 (P815L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290689	NM_015191.3(SIK2):c.1240G>A (p.Glu414Lys)	SIK2, PPP2R1B (E414K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290663	NM_015191.3(SIK2):c.2060C>T (p.Pro687Leu)	SIK2, PPP2R1B (P687L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285600	NM_015191.3(SIK2):c.2479C>A (p.Pro827Thr)	PPP2R1B, SIK2 (P827T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274366	NM_015191.3(SIK2):c.1274G>T (p.Gly425Val)	PPP2R1B, SIK2 (G425V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273779	NM_015191.3(SIK2):c.2575C>G (p.Pro859Ala)	SIK2, PPP2R1B (P859A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251398	NM_015191.3(SIK2):c.1162G>T (p.Ala388Ser)	SIK2, PPP2R1B (A388S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246910	NM_015191.3(SIK2):c.2743G>C (p.Val915Leu)	SIK2, PPP2R1B (V915L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244934	NM_015191.3(SIK2):c.1904C>T (p.Ala635Val)	PPP2R1B, SIK2 (A635V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244485	NM_015191.3(SIK2):c.2257C>T (p.Leu753Phe)	SIK2, PPP2R1B (L753F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237591	NM_015191.3(SIK2):c.1193C>A (p.Ala398Asp)	PPP2R1B, SIK2 (A398D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 716321	NM_015191.3(SIK2):c.1800A>G (p.Gln600=)	PPP2R1B, SIK2	Single nucleotide variant (synonymous variant)	not provided	GBenign

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Links from Gene

Items: 26