ClinVar for Gene (Select 5515) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370493	NM_002715.4(PPP2CA):c.817G>A (p.Ala273Thr)	PPP2CA (A208T +1 more)	Single nucleotide variant (missense variant +1 more)	Houge-Janssens syndrome 3	GUncertain significance
Select item 3369213	NM_002715.4(PPP2CA):c.389A>G (p.Tyr130Cys)	PPP2CA (Y130C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3368535	NM_002715.4(PPP2CA):c.539T>G (p.Ile180Ser)	PPP2CA (I115S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367467	NM_002715.4(PPP2CA):c.130A>G (p.Asn44Asp)	PPP2CA (N44D)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3349534	NM_002715.4(PPP2CA):c.643G>A (p.Gly215Arg)	PPP2CA (G150R +1 more)	Single nucleotide variant (missense variant +1 more)	PPP2CA-related disorder	GLikely pathogenic
Select item 3337492	NM_002715.4(PPP2CA):c.548T>C (p.Leu183Pro)	PPP2CA (L118P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3254873	NM_002715.4(PPP2CA):c.312+1G>A	PPP2CA	Single nucleotide variant (splice donor variant)	Houge-Janssens syndrome 3	GUncertain significance
Select item 3246506	NC_000005.9:g.(?_133533463)_(133534915_?)dup	PPP2CA	Duplication	not provided	GLikely benign
Select item 3246505	NC_000005.9:g.(?_133533463)_(133541842_?)dup	PPP2CA	Duplication	not provided	GUncertain significance
Select item 3246504	NC_000005.9:g.(?_133533463)_(135398915_?)dup	SLC25A48, TGFBI +21 more	Duplication	not provided	GUncertain significance
Select item 3242297	GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1	FSTL4, GDF9 +63 more	Copy number loss	not provided	GPathogenic
Select item 3217743	NM_002715.4(PPP2CA):c.43G>A (p.Glu15Lys)	MIR3661, PPP2CA (E15K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3055175	NM_002715.4(PPP2CA):c.305C>T (p.Ala102Val)	PPP2CA (A102V +1 more)	Single nucleotide variant (missense variant +1 more)	PPP2CA-related disorder	GLikely benign
Select item 3039371	NM_002715.4(PPP2CA):c.5_6del	PPP2CA	Deletion (3 prime UTR variant +1 more)	PPP2CA-related disorder	GLikely benign
Select item 3020241	NM_002715.4(PPP2CA):c.411T>C (p.Tyr137=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3011756	NM_002715.4(PPP2CA):c.858-8T>C	PPP2CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999985	NM_002715.4(PPP2CA):c.739-3dup	PPP2CA	Duplication (intron variant)	not provided	GLikely benign
Select item 2977910	NM_002715.4(PPP2CA):c.624T>C (p.Gly208=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2966228	NM_002715.4(PPP2CA):c.747C>T (p.Asn249=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2962070	NM_002715.4(PPP2CA):c.384T>A (p.Gly128=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2900080	NM_002715.4(PPP2CA):c.258T>C (p.Tyr86=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2895716	NM_002715.4(PPP2CA):c.324T>G (p.Arg108=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2878265	NM_002715.4(PPP2CA):c.455A>G (p.Tyr152Cys)	PPP2CA (Y152C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2861050	NM_002715.4(PPP2CA):c.906T>A (p.Arg302=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2861041	NM_002715.4(PPP2CA):c.41T>C (p.Ile14Thr)	MIR3661, PPP2CA (I14T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2855167	NM_002715.4(PPP2CA):c.366G>A (p.Gln122=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2850906	NM_002715.4(PPP2CA):c.693C>T (p.Ala231=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2850305	NM_002715.4(PPP2CA):c.272ATT[1] (p.Tyr92del)	PPP2CA (Y27del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GLikely pathogenic
Select item 2847383	NM_002715.4(PPP2CA):c.705G>T (p.Thr235=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2840954	NM_002715.4(PPP2CA):c.487-20T>A	PPP2CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2834672	NM_002715.4(PPP2CA):c.500A>G (p.His167Arg)	PPP2CA (H102R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2833753	NM_002715.4(PPP2CA):c.577-9A>G	PPP2CA	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2832669	NM_002715.4(PPP2CA):c.102+20C>T	PPP2CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830715	NM_002715.4(PPP2CA):c.487-5_487-4dup	PPP2CA	Duplication (intron variant)	not provided	GLikely benign
Select item 2822977	NM_002715.4(PPP2CA):c.42C>T (p.Ile14=)	MIR3661, PPP2CA	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2812870	NM_002715.4(PPP2CA):c.103-5T>G	PPP2CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810281	NM_002715.4(PPP2CA):c.814C>T (p.Gln272Ter)	PPP2CA (Q207* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2796962	NM_002715.4(PPP2CA):c.102+17C>A	PPP2CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778217	NM_002715.4(PPP2CA):c.739-15T>A	PPP2CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2768124	NM_002715.4(PPP2CA):c.169G>A (p.Asp57Asn)	PPP2CA (D57N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2767404	NM_002715.4(PPP2CA):c.597G>A (p.Leu199=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2767100	NM_002715.4(PPP2CA):c.617G>A (p.Arg206His)	PPP2CA (R206H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2766376	NM_002715.4(PPP2CA):c.667G>T (p.Asp223Tyr)	PPP2CA (D158Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2758118	NM_002715.4(PPP2CA):c.549T>A (p.Leu183=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2748609	NM_002715.4(PPP2CA):c.545C>T (p.Ala182Val)	PPP2CA (A117V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2747346	NM_002715.4(PPP2CA):c.239A>C (p.Tyr80Ser)	PPP2CA (Y15S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2737981	NM_002715.4(PPP2CA):c.299T>A (p.Leu100His)	PPP2CA (L100H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2734870	NM_002715.4(PPP2CA):c.313-4T>G	PPP2CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2709526	NM_002715.4(PPP2CA):c.519T>G (p.Ser173=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2704711	NM_002715.4(PPP2CA):c.504T>G (p.Gly168=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2702663	NM_002715.4(PPP2CA):c.537T>G (p.His179Gln)	PPP2CA (H114Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2695307	NM_002715.4(PPP2CA):c.472T>C (p.Leu158=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655709	NM_002715.4(PPP2CA):c.279A>G (p.Ser93=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655708	NM_002715.4(PPP2CA):c.304G>A (p.Ala102Thr)	PPP2CA (A102T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2637191	NM_002715.4(PPP2CA):c.575A>C (p.Glu192Ala)	PPP2CA (E127A +1 more)	Single nucleotide variant (missense variant +1 more)	PPP2CA-related disorder	GUncertain significance
Select item 2633346	NM_002715.4(PPP2CA):c.654C>A (p.Tyr218Ter)	PPP2CA (Y153* +1 more)	Single nucleotide variant (nonsense +1 more)	PPP2CA-related disorder	GLikely pathogenic
Select item 2631335	NM_002715.4(PPP2CA):c.796T>C (p.Cys266Arg)	PPP2CA (C201R +1 more)	Single nucleotide variant (missense variant +1 more)	PPP2CA-related disorder	GLikely pathogenic
Select item 2577792	NM_002715.4(PPP2CA):c.410A>G (p.Tyr137Cys)	PPP2CA (Y137C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576014	NM_002715.4(PPP2CA):c.149G>C (p.Cys50Ser)	PPP2CA (C50S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2506534	GRCh37/hg19 5q23.3-31.1(chr5:127800418-134002686)	ACSL6, ADAMTS19 +44 more	Copy number loss	Houge-Janssens syndrome 3	GPathogenic
Select item 2506286	NM_002715.4(PPP2CA):c.312+23G>T	PPP2CA	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2505820	NM_002715.4(PPP2CA):c.257A>T (p.Tyr86Phe)	PPP2CA (Y21F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2441807	NM_002715.4(PPP2CA):c.268G>C (p.Gly90Arg)	PPP2CA (G25R +1 more)	Single nucleotide variant (missense variant +1 more)	Houge-Janssens syndrome 3	GUncertain significance
Select item 2435225	NM_002715.4(PPP2CA):c.389A>T (p.Tyr130Phe)	PPP2CA (Y130F +1 more)	Single nucleotide variant (missense variant +1 more)	Houge-Janssens syndrome 3	GUncertain significance
Select item 2429609	NM_002715.4(PPP2CA):c.295C>G (p.Leu99Val)	PPP2CA (L34V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2314421	NM_002715.4(PPP2CA):c.889G>A (p.Glu297Lys)	PPP2CA (E297K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2311455	NM_002715.4(PPP2CA):c.811A>G (p.Asn271Asp)	PPP2CA (N271D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 2188305	NM_002715.4(PPP2CA):c.765T>C (p.Asn255=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2186825	NM_002715.4(PPP2CA):c.323G>A (p.Arg108His)	PPP2CA (R43H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2144761	NM_002715.4(PPP2CA):c.591C>T (p.Asp197=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2136118	NM_002715.4(PPP2CA):c.311A>T (p.Lys104Met)	PPP2CA (K104M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2135059	NM_002715.4(PPP2CA):c.621T>G (p.Gly207=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2131738	NM_002715.4(PPP2CA):c.103-8A>T	PPP2CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2126764	NM_002715.4(PPP2CA):c.313-12T>C	PPP2CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2117632	NM_002715.4(PPP2CA):c.313-3T>C	PPP2CA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2115562	NM_002715.4(PPP2CA):c.313-4T>A	PPP2CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2114897	NM_002715.4(PPP2CA):c.231T>C (p.Asp77=)	PPP2CA	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2112381	NM_002715.4(PPP2CA):c.463C>G (p.Leu155Val)	PPP2CA (L90V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2111526	NM_002715.4(PPP2CA):c.38G>A (p.Trp13Ter)	MIR3661, PPP2CA (W13*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2108610	NM_002715.4(PPP2CA):c.473TGG[1] (p.Val159del)	PPP2CA (V94del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2106705	NM_002715.4(PPP2CA):c.329G>A (p.Arg110His)	PPP2CA (R110H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2088108	NM_002715.4(PPP2CA):c.888C>T (p.Gly296=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2079710	NM_002715.4(PPP2CA):c.313-7_313-5del	PPP2CA	Deletion (intron variant)	not provided	GLikely benign
Select item 2071215	NM_002715.4(PPP2CA):c.739-9del	PPP2CA	Deletion (intron variant)	not provided	GBenign
Select item 2043206	NM_002715.4(PPP2CA):c.857+20_857+21del	PPP2CA	Deletion (intron variant)	not provided	GLikely benign
Select item 2036178	NM_002715.4(PPP2CA):c.326A>G (p.Glu109Gly)	PPP2CA (E44G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2029904	NM_002715.4(PPP2CA):c.738+8G>A	PPP2CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2024989	NM_002715.4(PPP2CA):c.739-3C>A	PPP2CA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2022985	NM_002715.4(PPP2CA):c.312+18T>G	PPP2CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2016857	NM_002715.4(PPP2CA):c.852C>G (p.Tyr284Ter)	PPP2CA (Y284* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2007661	NM_002715.4(PPP2CA):c.102+1G>A	MIR3661, PPP2CA	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 2005964	NM_002715.4(PPP2CA):c.61A>G (p.Lys21Glu)	MIR3661, PPP2CA (K21E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2001136	NM_002715.4(PPP2CA):c.77C>T (p.Ser26Phe)	MIR3661, PPP2CA (S26F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2000462	NM_002715.4(PPP2CA):c.690T>C (p.His230=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1987015	NM_002715.4(PPP2CA):c.90C>T (p.Ser30=)	MIR3661, PPP2CA	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1973415	NM_002715.4(PPP2CA):c.102+17C>T	PPP2CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1965196	NM_002715.4(PPP2CA):c.162C>G (p.Val54=)	PPP2CA	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1962664	NM_002715.4(PPP2CA):c.222A>G (p.Lys74=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1957771	NM_002715.4(PPP2CA):c.102+11G>A	PPP2CA	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1952676	NM_002715.4(PPP2CA):c.282T>A (p.Val94=)	PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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