"PPP3CA-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3044125	NM_000944.5(PPP3CA):c.*8C>T	PPP3CA	Single nucleotide variant (3 prime UTR variant)	PPP3CA-related disorder	GBenign
Select item 711413	NM_000944.5(PPP3CA):c.1386A>G (p.Ser462=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 777147	NM_000944.5(PPP3CA):c.1156+7G>T	PPP3CA	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1540355	NM_000944.5(PPP3CA):c.783-7del	PPP3CA	Deletion (intron variant)	not provided +3 more	GLikely benign
Select item 1543291	NM_000944.5(PPP3CA):c.518G>A (p.Arg173His)	PPP3CA (R173H)	Single nucleotide variant (missense variant)	PPP3CA-related disorder +1 more	GLikely benign
Select item 1547798	NM_000944.5(PPP3CA):c.468A>G (p.Leu156=)	PPP3CA	Single nucleotide variant (synonymous variant)	PPP3CA-related disorder +1 more	GLikely benign
Select item 3032519	NM_000944.5(PPP3CA):c.165G>A (p.Arg55=)	PPP3CA	Single nucleotide variant (synonymous variant)	PPP3CA-related disorder	GLikely benign
Select item 2635812	NM_000944.5(PPP3CA):c.113A>G (p.Asp38Gly)	PPP3CA (D38G)	Single nucleotide variant (missense variant)	PPP3CA-related disorder	GUncertain significance
Select item 2186508	NM_000944.5(PPP3CA):c.106G>A (p.Asp36Asn)	PPP3CA (D36N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1205977	NM_000944.5(PPP3CA):c.91G>T (p.Ala31Ser)	PPP3CA (A31S)	Single nucleotide variant (missense variant)	PPP3CA-related disorder +2 more	GLikely benign
Select item 1908139	NM_000944.5(PPP3CA):c.12C>T (p.Pro4=)	PPP3CA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1952895	NM_000944.5(PPP3CA):c.5C>G (p.Ser2Cys)	PPP3CA (S2C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance