"GeneDx"[submitter] AND "PSTPIP1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1218031	NM_001321137.1(PSTPIP1):c.26+155C>T	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1244912	NM_003978.5(PSTPIP1):c.-138A>T	PSTPIP1 (S20C)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
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 259210	NM_003978.5(PSTPIP1):c.36+15T>C	PSTPIP1	Single nucleotide variant (intron variant)	not provided +2 more	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 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 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 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 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 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 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 245676	NM_003978.5(PSTPIP1):c.138-5dup	PSTPIP1	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
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 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 +3 more	GBenign/Likely benign
Select item 138819	NM_003978.5(PSTPIP1):c.212+12C>T	PSTPIP1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 680095	NM_003978.5(PSTPIP1):c.212+248T>C	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2157042	NM_003978.5(PSTPIP1):c.228C>T (p.Ser76=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 242301	NM_003978.5(PSTPIP1):c.236C>T (p.Ser79Phe)	PSTPIP1 (S79F +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 more	GBenign/Likely benign
Select item 426265	NM_003978.5(PSTPIP1):c.247+1G>A	PSTPIP1	Single nucleotide variant (splice donor variant)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1310580	NM_003978.5(PSTPIP1):c.247+2T>G	PSTPIP1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 138820	NM_003978.5(PSTPIP1):c.247+20G>A	PSTPIP1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 673533	NM_003978.5(PSTPIP1):c.248-66G>A	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 138821	NM_003978.5(PSTPIP1):c.354+10G>A	PSTPIP1	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +2 more	GBenign/Likely benign
Select item 1100563	NM_003978.5(PSTPIP1):c.354+20C>A	PSTPIP1	Single nucleotide variant (intron variant)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +1 more	GBenign/Likely benign
Select item 138822	NM_003978.5(PSTPIP1):c.354+20C>T	PSTPIP1	Single nucleotide variant (intron variant)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +2 more	GBenign
Select item 1261204	NM_003978.5(PSTPIP1):c.354+39T>A	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677781	NM_003978.5(PSTPIP1):c.354+185C>T	PSTPIP1	Single nucleotide variant (intron variant)	not provided	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 1196457	NM_003978.5(PSTPIP1):c.417+62G>C	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677840	NM_003978.5(PSTPIP1):c.417+156C>T	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677774	NM_003978.5(PSTPIP1):c.417+176G>T	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677076	NM_003978.5(PSTPIP1):c.417+207_417+208del	PSTPIP1	Deletion (intron variant)	not provided	GBenign
Select item 677782	NM_003978.5(PSTPIP1):c.417+232G>C	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 245665	NM_003978.5(PSTPIP1):c.418-20A>G	PSTPIP1	Single nucleotide variant (intron variant)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +1 more	GBenign/Likely benign
Select item 515982	NM_003978.5(PSTPIP1):c.418-18G>A	PSTPIP1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 440212	NM_003978.5(PSTPIP1):c.418-6C>A	PSTPIP1	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1314498	NM_003978.5(PSTPIP1):c.434A>G (p.Glu145Gly)	PSTPIP1 (E136G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 378437	NM_003978.5(PSTPIP1):c.488C>T (p.Ala163Val)	PSTPIP1 (A163V +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1179272	NM_003978.5(PSTPIP1):c.516+61G>A	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677775	NM_003978.5(PSTPIP1):c.516+160G>A	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677030	NM_003978.5(PSTPIP1):c.516+177A>G	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676043	NM_003978.5(PSTPIP1):c.517-149G>T	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 242302	NM_003978.3(PSTPIP1):c.517_518delAG	PSTPIP1	Microsatellite	not provided +1 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)	Pyogenic arthritis-pyoderma gangrenosum-acne 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 246145	NM_003978.5(PSTPIP1):c.558G>A (p.Glu186=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +2 more	GLikely benign
Select item 1308125	NM_003978.5(PSTPIP1):c.560C>G (p.Ala187Gly)	PSTPIP1 (A178G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1224077	NM_003978.5(PSTPIP1):c.562+47G>A	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254094	NM_003978.5(PSTPIP1):c.562+114C>T	PSTPIP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1246246	NM_003978.5(PSTPIP1):c.562+116C>T	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194581	NM_003978.5(PSTPIP1):c.562+141C>T	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672558	NM_003978.5(PSTPIP1):c.563-252A>G	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677794	NM_003978.5(PSTPIP1):c.563-82G>A	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 378881	NM_003978.5(PSTPIP1):c.563-9C>T	PSTPIP1	Single nucleotide variant (intron variant)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +1 more	GLikely benign
Select item 138823	NM_003978.5(PSTPIP1):c.563-8G>A	PSTPIP1	Single nucleotide variant (intron variant)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +3 more	GBenign/Likely benign
Select item 245666	NM_003978.5(PSTPIP1):c.564G>A (p.Glu188=)	PSTPIP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 138824	NM_003978.5(PSTPIP1):c.642+16G>A	PSTPIP1	Single nucleotide variant (intron variant)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +1 more	GBenign/Likely benign
Select item 1263997	NM_003978.5(PSTPIP1):c.642+30C>G	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675222	NM_003978.5(PSTPIP1):c.642+64C>T	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270242	NM_003978.5(PSTPIP1):c.642+87T>C	PSTPIP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1252619	NM_003978.5(PSTPIP1):c.642+107C>A	PSTPIP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1200607	NM_003978.5(PSTPIP1):c.642+256G>A	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233537	NM_003978.5(PSTPIP1):c.643-291C>G	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199165	NM_003978.5(PSTPIP1):c.643-154C>T	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677841	NM_003978.5(PSTPIP1):c.643-128T>C	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278965	NM_003978.5(PSTPIP1):c.643-48G>A	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 245929	NM_003978.5(PSTPIP1):c.643-13C>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)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +1 more	GBenign
Select item 507898	NM_003978.5(PSTPIP1):c.657A>G (p.Gln219=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 245667	NM_003978.5(PSTPIP1):c.657A>C (p.Gln219His)	PSTPIP1 (Q219H +2 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +3 more	GBenign/Likely benign
Select item 659405	NM_003978.5(PSTPIP1):c.668G>A (p.Arg223Gln)	PSTPIP1 (R214Q +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GUncertain significance
Select item 513483	NM_003978.5(PSTPIP1):c.675C>T (p.Thr225=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +1 more	GLikely benign
Select item 2497917	NM_003978.5(PSTPIP1):c.680T>C (p.Leu227Pro)	PSTPIP1 (L218P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 391027	NM_003978.5(PSTPIP1):c.687C>T (p.Asn229=)	PSTPIP1	Single nucleotide variant (synonymous variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +1 more	GBenign/Likely benign
Select item 4435	NM_003978.5(PSTPIP1):c.688G>A (p.Ala230Thr)	PSTPIP1 (A230T +2 more)	Single nucleotide variant (missense variant +1 more)	PSTPIP1-related disorder +2 more	GPathogenic
Select item 1706369	NM_003978.5(PSTPIP1):c.706A>C (p.Asn236His)	PSTPIP1 (N227H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662896	NM_003978.5(PSTPIP1):c.720G>T (p.Met240Ile)	PSTPIP1 (M231I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1289389	NM_003978.5(PSTPIP1):c.741+41C>T	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674254	NM_003978.5(PSTPIP1):c.741+273C>T	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197378	NM_003978.5(PSTPIP1):c.742-266G>A	PSTPIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 138825	NM_003978.5(PSTPIP1):c.747C>T (p.Tyr249=)	PSTPIP1	Single nucleotide variant (synonymous variant)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +1 more	GBenign/Likely benign
Select item 97810	NM_003978.5(PSTPIP1):c.748G>A (p.Glu250Lys)	PSTPIP1 (E250K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 426913	NM_003978.5(PSTPIP1):c.764C>T (p.Thr255Met)	PSTPIP1 (T255M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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