Related gene-specific medical variations for Gene (Select 9051) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1330702	NM_003978.5(PSTPIP1):c.438G>A (p.Gln146=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 1330610	NM_003978.5(PSTPIP1):c.-120G>A	PSTPIP1 (G26S)	Single nucleotide variant (5 prime UTR variant +2 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GLikely benign
Select item 1330574	NM_003978.5(PSTPIP1):c.38_39delinsTT (p.Cys13Phe)	PSTPIP1 (C13F +2 more)	Indel (missense variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 1064150	NC_000015.9:g.(?_77310868)_77315342del	PSTPIP1	Deletion	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 812020	NM_003978.5(PSTPIP1):c.739G>A (p.Glu247Lys)	PSTPIP1 (E238K +2 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 811069	NM_003978.5(PSTPIP1):c.669del (p.Arg223_Leu224insTer)	PSTPIP1	Deletion (frameshift variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 425073	NM_003978.5(PSTPIP1):c.787_788del (p.Ala263fs)	PSTPIP1 (A254fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 374741	NM_003978.5(PSTPIP1):c.7C>T (p.Pro3Ser)	PSTPIP1 (P3S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 317166	NM_003978.5(PSTPIP1):c.-280GCTGG[3]	LOC130057651, PSTPIP1	Microsatellite (intron variant +2 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 317165	NM_003978.5(PSTPIP1):c.-367G>A	LOC130057651, PSTPIP1	Single nucleotide variant (5 prime UTR variant +2 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 317164	NM_003978.5(PSTPIP1):c.-421CCTG[8]	LOC130057651, PSTPIP1	Microsatellite (5 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 317163	NM_003978.5(PSTPIP1):c.-421CCTG[6]	LOC130057651, PSTPIP1	Microsatellite (5 prime UTR variant +2 more)	Autoinflammatory syndrome +2 more	GBenign/Likely benign
Select item 317162	NM_003978.5(PSTPIP1):c.-436G>A	LOC130057651, PSTPIP1	Single nucleotide variant (5 prime UTR variant +2 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GBenign
Select item 97809	NM_003978.5(PSTPIP1):c.741+32_741+33dup	PSTPIP1	Duplication (intron variant)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	Gnot provided