Related gene-specific medical variations for Gene (Select 5521) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372675	NM_181675.4(PPP2R2B):c.1030T>A (p.Cys344Ser)	CTB-99A3.1, PPP2R2B (C324S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234382	NM_181675.4(PPP2R2B):c.910G>A (p.Val304Ile)	CTB-99A3.1, PPP2R2B (V284I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3217763	NM_181675.4(PPP2R2B):c.940C>T (p.Arg314Cys)	CTB-99A3.1, PPP2R2B (R317C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056407	NM_181674.3(PPP2R2B):c.75-562AGC[9]	LOC108660405, PPP2R2B	Microsatellite (intron variant)	PPP2R2B-related disorder	GBenign
Select item 2662862	NM_181675.4(PPP2R2B):c.1114G>C (p.Asp372His)	CTB-99A3.1, PPP2R2B (D352H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2661939	NM_181675.4(PPP2R2B):c.820A>G (p.Arg274Gly)	CTB-99A3.1, PPP2R2B (R254G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2581742	NM_181675.4(PPP2R2B):c.908C>T (p.Thr303Ile)	CTB-99A3.1, PPP2R2B (T283I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2571233	NM_181675.4(PPP2R2B):c.1218C>T (p.Val406=)	CTB-99A3.1, PPP2R2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2539298	NM_181675.4(PPP2R2B):c.941G>A (p.Arg314His)	CTB-99A3.1, PPP2R2B (R294H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525959	NM_181675.4(PPP2R2B):c.1154G>A (p.Arg385Gln)	CTB-99A3.1, PPP2R2B (R391Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512379	NM_181675.4(PPP2R2B):c.1213A>G (p.Ser405Gly)	CTB-99A3.1, PPP2R2B (S394G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2496128	NM_181675.4(PPP2R2B):c.1046C>T (p.Ser349Leu)	CTB-99A3.1, PPP2R2B (S349L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477461	NM_181675.4(PPP2R2B):c.812C>G (p.Pro271Arg)	CTB-99A3.1, PPP2R2B (P271R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371456	NM_181675.4(PPP2R2B):c.1183G>T (p.Val395Leu)	CTB-99A3.1, PPP2R2B (V395L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303283	NM_181675.4(PPP2R2B):c.803C>T (p.Pro268Leu)	CTB-99A3.1, PPP2R2B (P248L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1879634	NM_181675.4(PPP2R2B):c.1185G>T (p.Val395=)	CTB-99A3.1, PPP2R2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1723101	NM_181675.4(PPP2R2B):c.964C>A (p.His322Asn)	CTB-99A3.1, PPP2R2B (H302N +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1711732	NM_181675.4(PPP2R2B):c.1280T>C (p.Ile427Thr)	CTB-99A3.1, PPP2R2B (I407T +6 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay	GUncertain significance
Select item 1340599	GRCh37/hg19 5q32(chr5:146455303-146565410)x1	PPP2R2B	Copy number loss	not provided	GUncertain significance
Select item 1319957	NM_181675.4(PPP2R2B):c.930C>A (p.Asn310Lys)	CTB-99A3.1, PPP2R2B (N290K +6 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 1050601	NM_181674.3(PPP2R2B):c.75-562AGC[4]	LOC108660405, PPP2R2B	Microsatellite (intron variant)	not provided	GBenign
Select item 809812	NM_181675.4(PPP2R2B):c.1213A>C (p.Ser405Arg)	CTB-99A3.1, PPP2R2B (S411R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 685599	GRCh37/hg19 5q32(chr5:146459722-146563206)x1	PPP2R2B	Copy number loss	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 392571	NM_181675.4(PPP2R2B):c.1190G>C (p.Gly397Ala)	PPP2R2B, CTB-99A3.1 (G386A +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 5614	NM_181675.3(PPP2R2B):c.27CAG[(7_28)[ (p.Ser10[(7-28)])	LOC108660405, PPP2R2B	Microsatellite	Spinocerebellar ataxia type 12	GBenign

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Links from Gene

Items: 26