ClinVar for MedGen (Select 1626137) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236340	NM_000944.5(PPP3CA):c.1308_1312dup (p.Ser438fs)	PPP3CA (S396fs +1 more)	Duplication (frameshift variant)	Epileptic encephalopathy, infantile or early childhood, 1	GPathogenic
Select item 2664226	NM_000944.5(PPP3CA):c.1513T>C (p.Ser505Pro)	PPP3CA (S453P +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 1	GUncertain significance
Select item 2571606	NM_000944.5(PPP3CA):c.58+74_58+75delinsCG	PPP3CA, LOC129992871	Indel (intron variant)	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development +1 more	GBenign
Select item 1703173	NM_000944.5(PPP3CA):c.1251_1252del (p.Ser417fs)	PPP3CA (S375fs +1 more)	Deletion (frameshift variant)	Epileptic encephalopathy, infantile or early childhood, 1	GPathogenic
Select item 1694451	NM_000944.5(PPP3CA):c.530C>G (p.Ala177Gly)	PPP3CA (A177G)	Single nucleotide variant (missense variant)	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development +1 more	GLikely pathogenic
Select item 1686095	NM_000944.5(PPP3CA):c.762G>T (p.Arg254Ser)	PPP3CA (R254S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 1	GPathogenic
Select item 1672908	NM_000944.5(PPP3CA):c.497-20C>G	PPP3CA	Single nucleotide variant (intron variant)	Epileptic encephalopathy, infantile or early childhood, 1 +2 more	GLikely benign
Select item 1662711	NM_000944.5(PPP3CA):c.955+18C>T	PPP3CA	Single nucleotide variant (intron variant)	Epileptic encephalopathy, infantile or early childhood, 1 +2 more	GLikely benign
Select item 1649507	NM_000944.5(PPP3CA):c.1389A>G (p.Pro463=)	PPP3CA	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy, infantile or early childhood, 1 +2 more	GLikely benign
Select item 1644923	NM_000944.5(PPP3CA):c.1241+17T>C	PPP3CA	Single nucleotide variant (intron variant)	Epileptic encephalopathy, infantile or early childhood, 1 +2 more	GBenign/Likely benign
Select item 1639966	NM_000944.5(PPP3CA):c.1156+15C>G	PPP3CA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1628986	NM_000944.5(PPP3CA):c.87T>A (p.Leu29=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1617376	NM_000944.5(PPP3CA):c.1428A>G (p.Leu476=)	PPP3CA	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy, infantile or early childhood, 1 +2 more	GLikely benign
Select item 1602892	NM_000944.5(PPP3CA):c.955+18C>A	PPP3CA	Single nucleotide variant (intron variant)	Epileptic encephalopathy, infantile or early childhood, 1 +2 more	GLikely benign
Select item 1600816	NM_000944.5(PPP3CA):c.1156+20G>C	PPP3CA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1600810	NM_000944.5(PPP3CA):c.1156+20G>T	PPP3CA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1600791	NM_000944.5(PPP3CA):c.588G>A (p.Leu196=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1599287	NM_000944.5(PPP3CA):c.1339+13_1339+15dup	LOC123477793, PPP3CA	Duplication (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1594544	NM_000944.5(PPP3CA):c.558C>A (p.Pro186=)	PPP3CA	Single nucleotide variant (synonymous variant)	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development +2 more	GLikely benign
Select item 1572240	NM_000944.5(PPP3CA):c.384+18C>T	PPP3CA	Single nucleotide variant (intron variant)	Epileptic encephalopathy, infantile or early childhood, 1 +2 more	GBenign/Likely benign
Select item 1567021	NM_000944.5(PPP3CA):c.138A>G (p.Leu46=)	PPP3CA	Single nucleotide variant (synonymous variant)	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development +2 more	GBenign/Likely benign
Select item 1564008	NM_000944.5(PPP3CA):c.861-14T>A	PPP3CA	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1556733	NM_000944.5(PPP3CA):c.1425C>T (p.Gly475=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1545172	NM_000944.5(PPP3CA):c.496+11T>C	PPP3CA	Single nucleotide variant (intron variant)	Epileptic encephalopathy, infantile or early childhood, 1 +2 more	GBenign/Likely benign
Select item 1540355	NM_000944.5(PPP3CA):c.783-7del	PPP3CA	Deletion (intron variant)	Epileptic encephalopathy, infantile or early childhood, 1 +3 more	GLikely benign
Select item 1530709	NM_000944.5(PPP3CA):c.519C>T (p.Arg173=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1494884	NM_000944.5(PPP3CA):c.1433G>A (p.Arg478Gln)	PPP3CA (R468Q +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 1 +2 more	GUncertain significance
Select item 1483821	NM_000944.5(PPP3CA):c.1265C>T (p.Thr422Met)	PPP3CA (T380M +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 1 +3 more	GUncertain significance
Select item 1474325	NM_000944.5(PPP3CA):c.1538A>G (p.Asn513Ser)	PPP3CA (N513S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1472340	NM_000944.5(PPP3CA):c.125G>A (p.Arg42His)	PPP3CA (R42H)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 1 +2 more	GUncertain significance
Select item 1379729	NM_000944.5(PPP3CA):c.656A>G (p.Lys219Arg)	PPP3CA (K219R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1369039	NM_000944.5(PPP3CA):c.829A>G (p.Ile277Val)	PPP3CA (I277V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1343236	NM_000944.5(PPP3CA):c.34_43del (p.Ser12fs)	PPP3CA (S12fs)	Deletion (frameshift variant)	Epileptic encephalopathy, infantile or early childhood, 1	GLikely pathogenic
Select item 1342413	NM_000944.5(PPP3CA):c.58+42297A>C	PPP3CA	Single nucleotide variant (intron variant)	Epileptic encephalopathy, infantile or early childhood, 1	GUncertain significance
Select item 1184296	NM_000944.5(PPP3CA):c.59-12350G>A	PPP3CA	Single nucleotide variant (intron variant)	Epileptic encephalopathy, infantile or early childhood, 1	GUncertain significance
Select item 1064702	NM_000944.5(PPP3CA):c.1299dup (p.Ser434fs)	PPP3CA (S392fs +1 more)	Duplication (frameshift variant)	Epileptic encephalopathy, infantile or early childhood, 1	GPathogenic
Select item 931475	NM_000944.5(PPP3CA):c.1283dup (p.Thr429fs)	PPP3CA (T387fs +1 more)	Duplication (frameshift variant)	Epileptic encephalopathy, infantile or early childhood, 1 +2 more	GPathogenic/Likely pathogenic
Select item 812184	NM_000944.5(PPP3CA):c.1477G>A (p.Asp493Asn)	PPP3CA (D493N +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 1	GLikely pathogenic
Select item 802080	NM_000944.5(PPP3CA):c.1311_1315del (p.Ser438fs)	PPP3CA (S438fs +1 more)	Deletion (frameshift variant)	Epileptic encephalopathy, infantile or early childhood, 1	GPathogenic
Select item 777147	NM_000944.5(PPP3CA):c.1156+7G>T	PPP3CA	Single nucleotide variant (intron variant)	PPP3CA-related disorder +3 more	GBenign/Likely benign
Select item 711413	NM_000944.5(PPP3CA):c.1386A>G (p.Ser462=)	PPP3CA	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy, infantile or early childhood, 1 +3 more	GBenign/Likely benign
Select item 599239	NM_000944.5(PPP3CA):c.1290dup (p.Met431fs)	PPP3CA (M431fs +1 more)	Duplication (frameshift variant)	Epileptic encephalopathy, infantile or early childhood, 1	GPathogenic
Select item 522802	NM_000944.5(PPP3CA):c.1308_1311dup (p.Ser438fs)	PPP3CA (S438fs +1 more)	Duplication (frameshift variant)	Epileptic encephalopathy, infantile or early childhood, 1	GPathogenic
Select item 496636	NM_000944.5(PPP3CA):c.1255_1256del (p.Ser419fs)	PPP3CA (S377fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 441275	NM_000944.5(PPP3CA):c.844G>A (p.Glu282Lys)	PPP3CA (E282K)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 441274	NM_000944.5(PPP3CA):c.843C>G (p.His281Gln)	PPP3CA (H281Q)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 1	GLikely pathogenic
Select item 441273	NM_000944.5(PPP3CA):c.1339G>A (p.Ala447Thr)	PPP3CA (A447T +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 1 +1 more	GPathogenic
Select item 441272	NM_000944.5(PPP3CA):c.275A>G (p.His92Arg)	PPP3CA (H92R)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GPathogenic
Select item 441271	NM_000944.5(PPP3CA):c.1333C>T (p.Gln445Ter)	PPP3CA (Q445* +1 more)	Single nucleotide variant (nonsense)	Epileptic encephalopathy, infantile or early childhood, 1	GPathogenic

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Items: 49