PPP2R2B[gene] and "single gene"[properties] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1712310	NM_181675.4(PPP2R2B):c.737C>A (p.Thr246Lys)	PPP2R2B (T226K +6 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 12	GUncertain significance
Select item 624067	NM_181675.4(PPP2R2B):c.707A>G (p.Asn236Ser)	PPP2R2B (N225S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3048492	NM_181675.4(PPP2R2B):c.665C>T (p.Thr222Met)	PPP2R2B (T202M +6 more)	Single nucleotide variant (missense variant +1 more)	PPP2R2B-related disorder	GLikely benign
Select item 2525627	NM_181675.4(PPP2R2B):c.614A>G (p.Asn205Ser)	PPP2R2B (N194S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1049044	NM_181675.4(PPP2R2B):c.571G>T (p.Ala191Ser)	PPP2R2B (A171S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3033720	NM_181675.4(PPP2R2B):c.549C>T (p.Ser183=)	PPP2R2B	Single nucleotide variant (synonymous variant +1 more)	PPP2R2B-related disorder	GLikely benign
Select item 2361830	NM_181675.4(PPP2R2B):c.499G>A (p.Val167Ile)	PPP2R2B (V225I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239637	NM_181675.4(PPP2R2B):c.490C>T (p.Pro164Ser)	PPP2R2B (P222S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214160	NM_181675.4(PPP2R2B):c.488C>G (p.Thr163Ser)	PPP2R2B (T152S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1702552	NM_181675.4(PPP2R2B):c.447+1G>A	PPP2R2B	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2503290	NM_181675.4(PPP2R2B):c.446G>C (p.Arg149Pro)	PPP2R2B (R129P +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2498986	NM_181675.4(PPP2R2B):c.446G>A (p.Arg149Gln)	PPP2R2B (R129Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252958	NM_181675.4(PPP2R2B):c.434T>G (p.Ile145Ser)	PPP2R2B (I125S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2572696	NM_181675.4(PPP2R2B):c.413G>A (p.Arg138Gln)	PPP2R2B (R118Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2589453	NM_181675.4(PPP2R2B):c.364G>A (p.Glu122Lys)	PPP2R2B (E111K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655886	NM_181675.4(PPP2R2B):c.335-6C>T	PPP2R2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272737	NM_181675.4(PPP2R2B):c.334+16G>A	PPP2R2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 423550	NM_181675.4(PPP2R2B):c.328A>G (p.Thr110Ala)	PPP2R2B (T99A +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2528415	NM_181675.4(PPP2R2B):c.212G>T (p.Ser71Ile)	PPP2R2B (S60I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1313011	NM_181675.4(PPP2R2B):c.196G>T (p.Glu66Ter)	PPP2R2B (E124* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2287865	NM_181675.4(PPP2R2B):c.175A>T (p.Asn59Tyr)	PPP2R2B (N39Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1711615	NM_181675.4(PPP2R2B):c.150A>G (p.Ile50Met)	PPP2R2B (I108M +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3367589	NM_181675.4(PPP2R2B):c.139C>G (p.Arg47Gly)	PPP2R2B (R105G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252913	NM_181675.4(PPP2R2B):c.133G>C (p.Gly45Arg)	PPP2R2B (G103R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 548555	NM_181675.4(PPP2R2B):c.119C>T (p.Ala40Val)	PPP2R2B (A29V +6 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 12	GUncertain significance
Select item 1335601	NM_181675.4(PPP2R2B):c.70+21510G>A	PPP2R2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2498987	NM_181675.4(PPP2R2B):c.-84C>G	PPP2R2B (L31V +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 252801	NM_181675.4(PPP2R2B):c.-84del	PPP2R2B (L31fs +1 more)	Deletion (frameshift variant +3 more)	not specified	GUncertain significance
Select item 3058567	NM_181675.4(PPP2R2B):c.-248G>A	PPP2R2B	Single nucleotide variant (5 prime UTR variant +2 more)	PPP2R2B-related disorder	GLikely benign
Select item 809813	NM_181677.2(PPP2R2B):c.-62-20439G>C	PPP2R2B (Q20H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1701488	NM_181677.2(PPP2R2B):c.-130A>T	PPP2R2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3059331	NM_001271899.1(PPP2R2B):c.19A>T (p.Thr7Ser)	PPP2R2B (T7S)	Single nucleotide variant (missense variant +1 more)	PPP2R2B-related disorder	GBenign
Select item 1340599	GRCh37/hg19 5q32(chr5:146455303-146565410)x1	PPP2R2B	Copy number loss	not provided	GUncertain significance
Select item 685599	GRCh37/hg19 5q32(chr5:146459722-146563206)x1	PPP2R2B	Copy number loss	not provided	GUncertain significance

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Items: 34