"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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)	not provided +1 more	GBenign
Select item 810900	NM_003978.5(PSTPIP1):c.137+47G>C	PSTPIP1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 451711	NM_003978.5(PSTPIP1):c.146C>T (p.Ala49Val)	PSTPIP1 (A49V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +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 provided +3 more	GBenign/Likely benign
Select item 835558	NM_003978.5(PSTPIP1):c.184C>T (p.Arg62Trp)	PSTPIP1 (R127W +2 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 317171	NM_003978.5(PSTPIP1):c.203C>T (p.Thr68Met)	PSTPIP1 (T68M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 138818	NM_003978.5(PSTPIP1):c.204G>A (p.Thr68=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1330915	NM_003978.5(PSTPIP1):c.212+1G>A	PSTPIP1	Single nucleotide variant (splice donor variant)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 138819	NM_003978.5(PSTPIP1):c.212+12C>T	PSTPIP1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 242301	NM_003978.5(PSTPIP1):c.236C>T (p.Ser79Phe)	PSTPIP1 (S79F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 618851	NM_003978.5(PSTPIP1):c.247C>A (p.Gln83Lys)	PSTPIP1 (Q83K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 138820	NM_003978.5(PSTPIP1):c.247+20G>A	PSTPIP1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 138822	NM_003978.5(PSTPIP1):c.354+20C>T	PSTPIP1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 246329	NM_003978.5(PSTPIP1):c.355-16C>G	PSTPIP1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 811832	NM_003978.5(PSTPIP1):c.384G>A (p.Lys128=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GLikely benign
Select item 245665	NM_003978.5(PSTPIP1):c.418-20A>G	PSTPIP1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 440212	NM_003978.5(PSTPIP1):c.418-6C>A	PSTPIP1	Single nucleotide variant (intron variant)	PSTPIP1-related condition +4 more	GConflicting classifications of pathogenicity
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 440210	NM_003978.5(PSTPIP1):c.493G>A (p.Gly165Ser)	PSTPIP1 (G165S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 317175	NM_003978.5(PSTPIP1):c.543G>A (p.Lys181=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +2 more	GBenign/Likely benign
Select item 317176	NM_003978.5(PSTPIP1):c.555C>T (p.Thr185=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 582444	NM_003978.5(PSTPIP1):c.584T>C (p.Ile195Thr)	PSTPIP1 (I195T +2 more)	Single nucleotide variant (missense variant)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 317177	NM_003978.5(PSTPIP1):c.586G>A (p.Ala196Thr)	PSTPIP1 (A196T +2 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 649667	NM_003978.5(PSTPIP1):c.587C>T (p.Ala196Val)	PSTPIP1 (A187V +2 more)	Single nucleotide variant (missense variant)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 138824	NM_003978.5(PSTPIP1):c.642+16G>A	PSTPIP1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 317179	NM_003978.5(PSTPIP1):c.652C>T (p.Leu218=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 245667	NM_003978.5(PSTPIP1):c.657A>C (p.Gln219His)	PSTPIP1 (Q219H +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GBenign/Likely benign
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 391027	NM_003978.5(PSTPIP1):c.687C>T (p.Asn229=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
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 259211	NM_003978.5(PSTPIP1):c.773G>C (p.Gly258Ala)	PSTPIP1 (G258A +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 138826	NM_003978.5(PSTPIP1):c.786C>T (p.Asp262=)	PSTPIP1	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +2 more	GBenign/Likely benign
Select item 138827	NM_003978.5(PSTPIP1):c.837C>T (p.Pro279=)	PSTPIP1	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +3 more	GBenign/Likely benign
Select item 534752	NM_003978.5(PSTPIP1):c.838+9C>T	PSTPIP1 (R283W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 993786	NM_003978.5(PSTPIP1):c.838+16C>T	PSTPIP1 (A285V)	Single nucleotide variant (missense variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GLikely benign
Select item 810948	NM_003978.5(PSTPIP1):c.838+40T>C	PSTPIP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 994304	NM_003978.5(PSTPIP1):c.838+45C>G	PSTPIP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 440205	NM_003978.5(PSTPIP1):c.838+145A>G	PSTPIP1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 440211	NM_003978.5(PSTPIP1):c.847C>T (p.Pro283Ser)	PSTPIP1 (P283S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 811969	NM_003978.5(PSTPIP1):c.864C>T (p.Tyr288=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GLikely benign
Select item 246332	NM_003978.5(PSTPIP1):c.882G>A (p.Pro294=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 138828	NM_003978.5(PSTPIP1):c.908C>T (p.Pro303Leu)	PSTPIP1 (P303L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 259212	NM_003978.5(PSTPIP1):c.915C>T (p.Cys305=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 2920935	NM_003978.5(PSTPIP1):c.929+8C>T	PSTPIP1	Single nucleotide variant (intron variant)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GLikely benign
Select item 811438	NM_003978.5(PSTPIP1):c.929+18G>A	PSTPIP1	Single nucleotide variant (intron variant)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GLikely benign
Select item 1330425	NM_003978.5(PSTPIP1):c.930-14C>T	PSTPIP1	Single nucleotide variant (intron variant)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GLikely benign
Select item 317182	NM_003978.5(PSTPIP1):c.940C>T (p.Leu314=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 810905	NM_003978.5(PSTPIP1):c.985+19G>T	PSTPIP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 317183	NM_003978.5(PSTPIP1):c.1054G>A (p.Glu352Lys)	PSTPIP1 (E352K +3 more)	Single nucleotide variant (missense variant +1 more)	PSTPIP1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1447262	NM_003978.5(PSTPIP1):c.1070C>T (p.Pro357Leu)	PSTPIP1 (P348L +3 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 440208	NM_003978.5(PSTPIP1):c.1072G>C (p.Ala358Pro)	PSTPIP1 (A358P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 259207	NM_003978.5(PSTPIP1):c.1098G>A (p.Ala366=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +3 more	GBenign/Likely benign
Select item 317185	NM_003978.5(PSTPIP1):c.1112C>T (p.Thr371Ile)	PSTPIP1 (T371I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 440209	NM_003978.5(PSTPIP1):c.1115C>T (p.Ala372Val)	PSTPIP1 (A372V +3 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 618850	NM_003978.5(PSTPIP1):c.1124C>T (p.Pro375Leu)	PSTPIP1 (P375L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 534753	NM_003978.5(PSTPIP1):c.1134G>A (p.Leu378=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 317186	NM_003978.5(PSTPIP1):c.1143C>T (p.Ser381=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 317187	NM_003978.5(PSTPIP1):c.1144G>A (p.Ala382Thr)	PSTPIP1 (A382T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 766706	NM_003978.5(PSTPIP1):c.1146G>A (p.Ala382=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GConflicting classifications of pathogenicity
Select item 242305	NM_003978.5(PSTPIP1):c.1151A>G (p.Asp384Gly)	PSTPIP1 (D384G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 138833	NM_003978.5(PSTPIP1):c.1206C>T (p.Asn402=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 440207	NM_003978.5(PSTPIP1):c.1207G>C (p.Gly403Arg)	PSTPIP1 (G403R +3 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 242306	NM_003978.5(PSTPIP1):c.1208G>A (p.Gly403Glu)	PSTPIP1 (G403E +3 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 242307	NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys)	PSTPIP1 (R405C +3 more)	Single nucleotide variant (missense variant +1 more)	PSTPIP1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 245930	NM_003978.5(PSTPIP1):c.1221C>A (p.Phe407Leu)	PSTPIP1 (F407L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 317190	NM_003978.5(PSTPIP1):c.*38T>C	PSTPIP1	Single nucleotide variant (3 prime UTR variant +1 more)	Autoinflammatory syndrome +2 more	GBenign/Likely benign
Select item 317191	NM_003978.5(PSTPIP1):c.*51G>A	PSTPIP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 369101	NM_003978.5(PSTPIP1):c.156_158del	PSTPIP1	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GBenign

ClinVar

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Items: 74