ClinVar for OMIM (Select 617711) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from OMIM

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3393324	NM_000944.5(PPP3CA):c.698C>G (p.Ser233Ter)	PPP3CA (S233*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy 91 +1 more	GUncertain significance
Select item 3393059	NM_000944.5(PPP3CA):c.788C>T (p.Pro263Leu)	PPP3CA (P263L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 91	GUncertain significance
Select item 3375463	NM_000944.5(PPP3CA):c.1246_1248dup (p.Glu416_Ser417insGlu)	PPP3CA	Duplication	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development +1 more	GUncertain significance
Select item 3236340	NM_000944.5(PPP3CA):c.1308_1312dup (p.Ser438fs)	PPP3CA (S396fs +1 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy 91	GPathogenic
Select item 2664226	NM_000944.5(PPP3CA):c.1513T>C (p.Ser505Pro)	PPP3CA (S453P +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 91	GUncertain significance
Select item 2571606	NM_000944.5(PPP3CA):c.58+74_58+75delinsCG	LOC129992871, PPP3CA	Indel (intron variant)	Developmental and epileptic encephalopathy 91 +1 more	GBenign
Select item 1703173	NM_000944.5(PPP3CA):c.1251_1252del (p.Ser417fs)	PPP3CA (S375fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy 91	GPathogenic
Select item 1694451	NM_000944.5(PPP3CA):c.530C>G (p.Ala177Gly)	PPP3CA (A177G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 91 +1 more	GLikely pathogenic
Select item 1686095	NM_000944.5(PPP3CA):c.762G>T (p.Arg254Ser)	PPP3CA (R254S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 91 +1 more	GPathogenic/Likely pathogenic
Select item 1672908	NM_000944.5(PPP3CA):c.497-20C>G	PPP3CA	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1662711	NM_000944.5(PPP3CA):c.955+18C>T	PPP3CA	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1649507	NM_000944.5(PPP3CA):c.1389A>G (p.Pro463=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1644923	NM_000944.5(PPP3CA):c.1241+17T>C	PPP3CA	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 91 +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)	Developmental and epileptic encephalopathy 91 +2 more	GLikely benign
Select item 1602892	NM_000944.5(PPP3CA):c.955+18C>A	PPP3CA	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 91 +2 more	GLikely benign
Select item 1600816	NM_000944.5(PPP3CA):c.1156+20G>C	PPP3CA	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 91 +2 more	GBenign/Likely benign
Select item 1600810	NM_000944.5(PPP3CA):c.1156+20G>T	PPP3CA	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 91 +2 more	GBenign/Likely benign
Select item 1600791	NM_000944.5(PPP3CA):c.588G>A (p.Leu196=)	PPP3CA	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 91 +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)	not provided +2 more	GLikely benign
Select item 1572240	NM_000944.5(PPP3CA):c.384+18C>T	PPP3CA	Single nucleotide variant (intron variant)	not provided +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)	Developmental and epileptic encephalopathy 91 +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)	not provided +2 more	GBenign/Likely benign
Select item 1540355	NM_000944.5(PPP3CA):c.783-7del	PPP3CA	Deletion (intron variant)	not provided +2 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)	Developmental and epileptic encephalopathy 91 +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)	Inborn genetic diseases +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)	Developmental and epileptic encephalopathy 91 +3 more	GConflicting classifications of pathogenicity
Select item 1472340	NM_000944.5(PPP3CA):c.125G>A (p.Arg42His)	PPP3CA (R42H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 91 +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)	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development +2 more	GUncertain significance
Select item 1343236	NM_000944.5(PPP3CA):c.34_43del (p.Ser12fs)	PPP3CA (S12fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy 91	GLikely pathogenic
Select item 1342413	NM_000944.5(PPP3CA):c.58+42297A>C	PPP3CA	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 91	GUncertain significance
Select item 1184296	NM_000944.5(PPP3CA):c.59-12350G>A	PPP3CA	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 91	GUncertain significance
Select item 1064702	NM_000944.5(PPP3CA):c.1299dup (p.Ser434fs)	PPP3CA (S392fs +1 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy 91	GPathogenic
Select item 931475	NM_000944.5(PPP3CA):c.1283dup (p.Thr429fs)	PPP3CA (T387fs +1 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy 91 +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)	Developmental and epileptic encephalopathy 91	GLikely pathogenic
Select item 802080	NM_000944.5(PPP3CA):c.1311_1315del (p.Ser438fs)	PPP3CA (S438fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy 91	GPathogenic
Select item 777147	NM_000944.5(PPP3CA):c.1156+7G>T	PPP3CA	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 91 +2 more	GBenign/Likely benign
Select item 711413	NM_000944.5(PPP3CA):c.1386A>G (p.Ser462=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 599239	NM_000944.5(PPP3CA):c.1290dup (p.Met431fs)	PPP3CA (M431fs +1 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy 91	GPathogenic
Select item 522802	NM_000944.5(PPP3CA):c.1308_1311dup (p.Ser438fs)	PPP3CA (S438fs +1 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy 91	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)	Developmental and epileptic encephalopathy 91 +4 more	GPathogenic/Likely pathogenic
Select item 441274	NM_000944.5(PPP3CA):c.843C>G (p.His281Gln)	PPP3CA (H281Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 91	GLikely pathogenic
Select item 441273	NM_000944.5(PPP3CA):c.1339G>A (p.Ala447Thr)	PPP3CA (A447T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 91 +1 more	GPathogenic
Select item 441272	NM_000944.5(PPP3CA):c.275A>G (p.His92Arg)	PPP3CA (H92R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 441271	NM_000944.5(PPP3CA):c.1333C>T (p.Gln445Ter)	PPP3CA (Q445* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy 91	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from OMIM

Items: 52