PSTPIP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	LOC130057730, LOC132090332 +175 more	Copy number loss	See cases	GPathogenic
Select item 3050859	NM_001321137.1(PSTPIP1):c.26+6C>T	PSTPIP1	Single nucleotide variant (intron variant)	PSTPIP1-related disorder	GLikely benign
Select item 1218031	NM_001321137.1(PSTPIP1):c.26+155C>T	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GLikely 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 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)	not provided +2 more	GBenign/Likely benign
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 317166	NM_003978.5(PSTPIP1):c.-280GCTGG[3]	LOC130057651, PSTPIP1	Microsatellite (5 prime UTR variant +2 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 3349914	NM_003978.5(PSTPIP1):c.-175C>G	PSTPIP1	Single nucleotide variant (5 prime UTR variant +2 more)	PSTPIP1-related disorder	GUncertain significance
Select item 317167	NM_003978.5(PSTPIP1):c.-171A>T	PSTPIP1	Single nucleotide variant (5 prime UTR variant +2 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GBenign
Select item 3058774	NM_003978.5(PSTPIP1):c.-159C>G	PSTPIP1 (L13V)	Single nucleotide variant (5 prime UTR variant +2 more)	PSTPIP1-related disorder	GLikely benign
Select item 3057775	NM_003978.5(PSTPIP1):c.-141C>T	PSTPIP1	Single nucleotide variant (5 prime UTR variant +2 more)	PSTPIP1-related disorder	GLikely benign
Select item 1244912	NM_003978.5(PSTPIP1):c.-138A>T	PSTPIP1 (S20C)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 3049058	NM_003978.5(PSTPIP1):c.-126G>T	PSTPIP1 (G24C)	Single nucleotide variant (5 prime UTR variant +2 more)	PSTPIP1-related disorder	GLikely benign
Select item 317168	NM_003978.5(PSTPIP1):c.-124C>T	PSTPIP1	Single nucleotide variant (5 prime UTR variant +2 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GBenign/Likely benign
Select item 993955	NM_003978.5(PSTPIP1):c.-123G>A	PSTPIP1 (A25T)	Single nucleotide variant (5 prime UTR variant +2 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GLikely benign
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 317169	NM_003978.5(PSTPIP1):c.-117C>T	PSTPIP1 (R27W)	Single nucleotide variant (5 prime UTR variant +2 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GBenign
Select item 583784	NC_000015.9:g.(?_77287895)_(77329537_?)dup	PSTPIP1, LOC130057652 +1 more	Duplication	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 516518	NM_003978.5(PSTPIP1):c.-16C>T	PSTPIP1	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3054310	NM_003978.5(PSTPIP1):c.-1G>A	PSTPIP1	Single nucleotide variant (5 prime UTR variant +2 more)	PSTPIP1-related disorder	GLikely benign
Select item 723892	NM_003978.5(PSTPIP1):c.5T>C (p.Met2Thr)	PSTPIP1 (M2T +1 more)	Single nucleotide variant (missense variant +2 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2614163	NM_003978.5(PSTPIP1):c.6G>T (p.Met2Ile)	PSTPIP1 (M2I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 2147531	NM_003978.5(PSTPIP1):c.15G>A (p.Leu5=)	PSTPIP1	Single nucleotide variant (synonymous variant +2 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GLikely benign
Select item 2135679	NM_003978.5(PSTPIP1):c.17A>G (p.Gln6Arg)	PSTPIP1 (Q6R +1 more)	Single nucleotide variant (missense variant +2 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 2096769	NM_003978.5(PSTPIP1):c.17A>T (p.Gln6Leu)	PSTPIP1 (Q6L +1 more)	Single nucleotide variant (missense variant +2 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 650400	NM_003978.5(PSTPIP1):c.22A>G (p.Lys8Glu)	PSTPIP1 (K73E +1 more)	Single nucleotide variant (missense variant +2 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 1694148	NM_003978.5(PSTPIP1):c.25G>A (p.Asp9Asn)	PSTPIP1 (D74N +1 more)	Single nucleotide variant (missense variant +2 more)	Autoinflammatory syndrome	GUncertain significance
Select item 836122	NM_003978.5(PSTPIP1):c.29C>T (p.Ala10Val)	PSTPIP1 (A10V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2839192	NM_003978.5(PSTPIP1):c.32T>C (p.Phe11Ser)	PSTPIP1 (F11S +1 more)	Single nucleotide variant (missense variant +2 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 2824415	NM_003978.5(PSTPIP1):c.35G>C (p.Trp12Ser)	PSTPIP1 (W12S +1 more)	Single nucleotide variant (missense variant +2 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 259210	NM_003978.5(PSTPIP1):c.36+15T>C	PSTPIP1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 2870935	NM_003978.5(PSTPIP1):c.36+19_36+22dup	PSTPIP1	Duplication (intron variant)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GLikely benign
Select item 1182295	NM_003978.5(PSTPIP1):c.36+68G>A	PSTPIP1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1189542	NM_003978.5(PSTPIP1):c.36+131A>G	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674542	NM_003978.5(PSTPIP1):c.36+147G>T	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186054	NM_003978.5(PSTPIP1):c.36+201G>T	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1683612	NM_003978.5(PSTPIP1):c.36+10610A>G	PSTPIP1	Single nucleotide variant (intron variant)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 3036771	NM_003978.5(PSTPIP1):c.37-10081C>T	PSTPIP1	Single nucleotide variant (intron variant +1 more)	PSTPIP1-related disorder	GUncertain significance
Select item 2628304	NM_003978.5(PSTPIP1):c.37-2234C>T	PSTPIP1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628116	NM_003978.5(PSTPIP1):c.37-2102G>A	PSTPIP1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 679788	NM_003978.5(PSTPIP1):c.37-200A>C	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274409	NM_003978.5(PSTPIP1):c.37-144C>G	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274571	NM_003978.5(PSTPIP1):c.37-44C>T	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2165428	NM_003978.5(PSTPIP1):c.37-17_37-15del	PSTPIP1	Deletion (intron variant)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GLikely benign
Select item 246144	NM_003978.5(PSTPIP1):c.37-5C>T	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 242299	NM_003978.5(PSTPIP1):c.37T>G (p.Cys13Gly)	PSTPIP1 (C13G +2 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +3 more	GConflicting classifications of pathogenicity
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 1017397	NM_003978.5(PSTPIP1):c.39C>G (p.Cys13Trp)	PSTPIP1 (C13W +2 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 1718188	NM_003978.5(PSTPIP1):c.41G>A (p.Arg14Lys)	PSTPIP1 (R14K +2 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 2748221	NM_003978.5(PSTPIP1):c.45C>T (p.Asp15=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GLikely benign
Select item 1694150	NM_003978.5(PSTPIP1):c.46T>C (p.Phe16Leu)	PSTPIP1 (F16L +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 665673	NM_003978.5(PSTPIP1):c.50C>T (p.Thr17Ile)	PSTPIP1 (T82I +2 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 1710842	NM_003978.5(PSTPIP1):c.53C>A (p.Ala18Asp)	PSTPIP1 (A18D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2739608	NM_003978.5(PSTPIP1):c.54C>T (p.Ala18=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GLikely benign
Select item 2836409	NM_003978.5(PSTPIP1):c.58A>C (p.Thr20Pro)	PSTPIP1 (T11P +2 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 317170	NM_003978.5(PSTPIP1):c.59C>T (p.Thr20Met)	PSTPIP1 (T20M +2 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1576987	NM_003978.5(PSTPIP1):c.60G>A (p.Thr20=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GLikely benign
Select item 1160979	NM_003978.5(PSTPIP1):c.60G>C (p.Thr20=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GLikely benign
Select item 1518219	NM_003978.5(PSTPIP1):c.62_63delinsAA (p.Gly21Glu)	PSTPIP1 (G12E +2 more)	Indel (missense variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 1153710	NM_003978.5(PSTPIP1):c.66C>T (p.Tyr22=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2879256	NM_003978.5(PSTPIP1):c.74T>C (p.Leu25Pro)	PSTPIP1 (L16P +2 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 1529992	NM_003978.5(PSTPIP1):c.82C>A (p.Arg28=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GLikely benign
Select item 242300	NM_003978.5(PSTPIP1):c.82C>T (p.Arg28Trp)	PSTPIP1 (R28W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1426446	NM_003978.5(PSTPIP1):c.83G>A (p.Arg28Gln)	PSTPIP1 (R93Q +2 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 1487817	NM_003978.5(PSTPIP1):c.86T>C (p.Leu29Pro)	PSTPIP1 (L29P +2 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 1694153	NM_003978.5(PSTPIP1):c.89_99del (p.Leu30fs)	PSTPIP1 (L21fs +2 more)	Deletion (frameshift variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 2753581	NM_003978.5(PSTPIP1):c.94G>A (p.Gly32Ser)	PSTPIP1 (G23S +2 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 1694146	NM_003978.5(PSTPIP1):c.111A>G (p.Lys37=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 811827	NM_003978.5(PSTPIP1):c.123G>A (p.Glu41=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GLikely benign
Select item 1505863	NM_003978.5(PSTPIP1):c.127C>G (p.Leu43Val)	PSTPIP1 (L34V +2 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 2832605	NM_003978.5(PSTPIP1):c.135G>A (p.Gln45=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GLikely benign
Select item 2023860	NM_003978.5(PSTPIP1):c.137+6C>T	PSTPIP1	Single nucleotide variant (intron variant)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 2864125	NM_003978.5(PSTPIP1):c.137+12G>T	PSTPIP1	Single nucleotide variant (intron variant)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GLikely benign
Select item 993524	NM_003978.5(PSTPIP1):c.137+20del	PSTPIP1	Deletion (intron variant)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +1 more	GBenign
Select item 811553	NM_003978.5(PSTPIP1):c.137+28C>T	PSTPIP1	Single nucleotide variant (intron variant)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +1 more	GBenign
Select item 810900	NM_003978.5(PSTPIP1):c.137+47G>C	PSTPIP1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 670318	NM_003978.5(PSTPIP1):c.137+57G>A	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210892	NM_003978.5(PSTPIP1):c.138-83A>T	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272208	NM_003978.5(PSTPIP1):c.138-72T>G	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2751319	NM_003978.5(PSTPIP1):c.138-15C>T	PSTPIP1	Single nucleotide variant (intron variant)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GLikely benign
Select item 2861823	NM_003978.5(PSTPIP1):c.138-14C>T	PSTPIP1	Single nucleotide variant (intron variant)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GLikely benign
Select item 245676	NM_003978.5(PSTPIP1):c.138-5dup	PSTPIP1	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2112833	NM_003978.5(PSTPIP1):c.138-5del	PSTPIP1	Deletion (intron variant)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GBenign
Select item 391012	NM_003978.5(PSTPIP1):c.138-8T>C	PSTPIP1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 245664	NM_003978.5(PSTPIP1):c.138-6T>C	PSTPIP1	Single nucleotide variant (intron variant)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +1 more	GLikely benign
Select item 451711	NM_003978.5(PSTPIP1):c.146C>T (p.Ala49Val)	PSTPIP1 (A49V +2 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +1 more	GUncertain significance
Select item 259208	NM_003978.5(PSTPIP1):c.147G>A (p.Ala49=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1694147	NM_003978.5(PSTPIP1):c.155G>A (p.Arg52Gln)	PSTPIP1 (R117Q +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 751667	NM_003978.5(PSTPIP1):c.159C>T (p.Tyr53=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2761060	NM_003978.5(PSTPIP1):c.162G>A (p.Gly54=)	PSTPIP1	Single nucleotide variant (non-coding transcript variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GLikely benign
Select item 2074778	NM_003978.5(PSTPIP1):c.165G>A (p.Lys55=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GLikely benign
Select item 2838046	NM_003978.5(PSTPIP1):c.168G>A (p.Glu56=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GLikely benign
Select item 2711685	NM_003978.5(PSTPIP1):c.172G>T (p.Val58Leu)	PSTPIP1 (V49L +2 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 2721506	NM_003978.5(PSTPIP1):c.174G>A (p.Val58=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GLikely benign

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