Related gene-specific medical variations for Gene (Select 5515) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2861041	NM_002715.4(PPP2CA):c.41T>C (p.Ile14Thr)	MIR3661, PPP2CA (I14T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 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 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 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 1948072	NM_002715.4(PPP2CA):c.57G>A (p.Glu19=)	MIR3661, PPP2CA	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1696646	NM_002715.4(PPP2CA):c.102+1493C>G	PPP2CA	Single nucleotide variant (intron variant)	Houge-Janssens syndrome 3	GUncertain significance
Select item 1676571	NM_002715.4(PPP2CA):c.133G>A (p.Val45Met)	PPP2CA (V45M)	Single nucleotide variant	Houge-Janssens syndrome 3	GLikely pathogenic
Select item 1664906	NM_002715.4(PPP2CA):c.78C>G (p.Ser26=)	MIR3661, PPP2CA	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1662030	NM_002715.4(PPP2CA):c.72C>T (p.Ser24=)	MIR3661, PPP2CA	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1657413	NM_002715.4(PPP2CA):c.15G>C (p.Val5=)	MIR3661, PPP2CA	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1631778	NM_002715.4(PPP2CA):c.81G>A (p.Gln27=)	MIR3661, PPP2CA	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1588779	NM_002715.4(PPP2CA):c.67C>T (p.Leu23=)	MIR3661, PPP2CA	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1579286	NM_002715.4(PPP2CA):c.72C>G (p.Ser24=)	MIR3661, PPP2CA	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1573555	NM_002715.4(PPP2CA):c.21C>T (p.Thr7=)	PPP2CA, MIR3661	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1568680	NM_002715.4(PPP2CA):c.78C>T (p.Ser26=)	MIR3661, PPP2CA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1562942	NM_002715.4(PPP2CA):c.62A>G (p.Lys21Arg)	MIR3661, PPP2CA (K21R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1477226	NM_002715.4(PPP2CA):c.100_102del (p.Lys34del)	MIR3661, PPP2CA (K34del)	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1451084	NM_002715.4(PPP2CA):c.10_12del (p.Lys4del)	MIR3661, PPP2CA (K4del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1431864	NM_002715.4(PPP2CA):c.75_76del (p.Glu25fs)	MIR3661, PPP2CA (E25fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1382033	NM_002715.4(PPP2CA):c.51_55dup (p.Glu19fs)	MIR3661, PPP2CA (E19fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1342520	NM_002715.4(PPP2CA):c.102+7294T>C	PPP2CA	Single nucleotide variant (intron variant)	Houge-Janssens syndrome 3	GUncertain significance
Select item 1315132	NM_002715.4(PPP2CA):c.74A>T (p.Glu25Val)	MIR3661, PPP2CA (E25V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance

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Links from Gene

Items: 29