"Ambry Genetics"[submitter] AND "SIK2"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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

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Items: 45