C4748872[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1494884	NM_000944.5(PPP3CA):c.1433G>A (p.Arg478Gln)	PPP3CA (R468Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1617376	NM_000944.5(PPP3CA):c.1428A>G (p.Leu476=)	PPP3CA	Single nucleotide variant (synonymous 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)	Developmental and epileptic encephalopathy 91 +2 more	GBenign/Likely 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 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 1599287	NM_000944.5(PPP3CA):c.1339+13_1339+15dup	PPP3CA, LOC123477793	Duplication (intron variant)	Developmental and epileptic encephalopathy 91 +2 more	GBenign/Likely benign
Select item 1483821	NM_000944.5(PPP3CA):c.1265C>T (p.Thr422Met)	PPP3CA (T380M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1644923	NM_000944.5(PPP3CA):c.1241+17T>C	PPP3CA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely 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 1639966	NM_000944.5(PPP3CA):c.1156+15C>G	PPP3CA	Single nucleotide variant (intron variant)	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development +2 more	GBenign/Likely benign
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 1662711	NM_000944.5(PPP3CA):c.955+18C>T	PPP3CA	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1602892	NM_000944.5(PPP3CA):c.955+18C>A	PPP3CA	Single nucleotide variant (intron variant)	not provided +2 more	GLikely 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 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 1540355	NM_000944.5(PPP3CA):c.783-7del	PPP3CA	Deletion (intron variant)	Developmental and epileptic encephalopathy 91 +2 more	GLikely benign
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 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 1594544	NM_000944.5(PPP3CA):c.558C>A (p.Pro186=)	PPP3CA	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 91 +2 more	GLikely benign
Select item 1530709	NM_000944.5(PPP3CA):c.519C>T (p.Arg173=)	PPP3CA	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 91 +2 more	GLikely benign
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 1545172	NM_000944.5(PPP3CA):c.496+11T>C	PPP3CA	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 91 +2 more	GBenign/Likely benign
Select item 1572240	NM_000944.5(PPP3CA):c.384+18C>T	PPP3CA	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 91 +2 more	GBenign/Likely benign
Select item 1567021	NM_000944.5(PPP3CA):c.138A>G (p.Leu46=)	PPP3CA	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 91 +2 more	GBenign/Likely benign
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 1628986	NM_000944.5(PPP3CA):c.87T>A (p.Leu29=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign

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Items: 28