ClinVar for MedGen (Select 442377) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1227097	NM_005026.5(PIK3CD):c.2348-30C>T	PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14b, autosomal recessive +4 more	GBenign
Select item 1064712	NM_033286.4(KNSTRN):c.629del (p.Leu210fs)	KNSTRN (L210fs)	Deletion (frameshift variant)	Combined immunodeficiency with faciooculoskeletal anomalies	GPathogenic
Select item 1064709	NM_005026.5(PIK3CD):c.2161C>T (p.Gln721Ter)	PIK3CD (Q721* +2 more)	Single nucleotide variant (nonsense)	Combined immunodeficiency with faciooculoskeletal anomalies	GPathogenic
Select item 969000	NM_005026.5(PIK3CD):c.1339+4G>A	LOC126805612, PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14 +3 more	GUncertain significance
Select item 811566	NM_005026.5(PIK3CD):c.2808C>T (p.Tyr936=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14b, autosomal recessive +4 more	GBenign
Select item 736478	NM_005026.5(PIK3CD):c.2997+10G>A	PIK3CD	Single nucleotide variant (intron variant)	Combined immunodeficiency with faciooculoskeletal anomalies +2 more	GLikely benign
Select item 709503	NM_005026.5(PIK3CD):c.1394C>T (p.Thr465Met)	LOC126805612, PIK3CD (T436M +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14 +3 more	GBenign/Likely benign
Select item 651966	NM_005026.5(PIK3CD):c.1242G>A (p.Ala414=)	LOC126805612, PIK3CD	Single nucleotide variant (synonymous variant)	not provided +3 more	GUncertain significance
Select item 643256	NM_005026.5(PIK3CD):c.1955+5C>T	PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14 +3 more	GUncertain significance
Select item 642308	NM_005026.5(PIK3CD):c.598G>A (p.Glu200Lys)	PIK3CD (E200K)	Single nucleotide variant (missense variant)	Immunodeficiency 14b, autosomal recessive +3 more	GUncertain significance
Select item 474028	NM_005026.5(PIK3CD):c.2919C>T (p.Leu973=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14b, autosomal recessive +3 more	GBenign/Likely benign
Select item 474022	NM_005026.5(PIK3CD):c.1005C>T (p.Ala335=)	PIK3CD	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 88675	NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)	PIK3CD (E1021K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GPathogenic