"Genetic Services Laboratory, University of Chicago"[submitter] AND "S - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 790233	NM_058004.4(PI4KA):c.42_53del (p.Gly15_Gly18del)	PI4KA, SNAP29	Deletion (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 786694	NM_058004.4(PI4KA):c.24AGGCGG[5] (p.Gly18_Cys19insGlyGly)	PI4KA, SNAP29	Microsatellite (inframe_insertion)	not provided +1 more	GBenign
Select item 710488	NM_058004.4(PI4KA):c.24AGGCGG[3] (p.Gly17_Gly18del)	PI4KA, SNAP29	Microsatellite (inframe_deletion)	not specified +1 more	GBenign
Select item 340827	NM_004782.4(SNAP29):c.-8C>G	SNAP29	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign/Likely benign
Select item 340831	NM_004782.4(SNAP29):c.130T>C (p.Tyr44His)	SNAP29 (Y44H)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1336073	NM_004782.4(SNAP29):c.131A>G (p.Tyr44Cys)	SNAP29 (Y44C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1335993	NM_004782.4(SNAP29):c.149T>C (p.Leu50Pro)	SNAP29 (L50P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 279932	NM_004782.4(SNAP29):c.354dup (p.Leu119fs)	SNAP29 (L119fs)	Duplication (frameshift variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 436825	NM_004782.4(SNAP29):c.629C>T (p.Ser210Phe)	SNAP29 (S210F)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 901296	NM_004782.4(SNAP29):c.*6G>A	SNAP29	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GUncertain significance