PRSS48[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 57896	GRCh38/hg38 4q31.3(chr4:150703713-151282758)x3	LOC108281188, LOC121056744 +13 more	Copy number gain	See cases	GUncertain significance
Select item 153317	GRCh38/hg38 4q31.3(chr4:151144531-151643648)x1	FHIP1A, FHIP1A-DT +4 more	Copy number loss	See cases	GLikely benign
Select item 2541260	NM_183375.5(PRSS48):c.79C>T (p.Arg27Cys)	PRSS48, SH3D19 (R27C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310709	NM_183375.5(PRSS48):c.82G>A (p.Val28Ile)	PRSS48, SH3D19 (V28I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3219886	NM_183375.5(PRSS48):c.118C>A (p.Pro40Thr)	PRSS48, SH3D19 (P40T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1184861	NM_183375.5(PRSS48):c.127_131del (p.Val43fs)	PRSS48, SH3D19 (V43fs)	Deletion (frameshift variant +1 more)	Essential tremor	GUncertain significance
Select item 2226482	NM_183375.5(PRSS48):c.125A>T (p.Gln42Leu)	PRSS48, SH3D19 (Q42L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307899	NM_183375.5(PRSS48):c.163G>C (p.Gly55Arg)	PRSS48, SH3D19 (G55R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310710	NM_183375.5(PRSS48):c.203A>G (p.His68Arg)	PRSS48, SH3D19 (H68R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460423	NM_183375.5(PRSS48):c.254C>T (p.Ser85Leu)	PRSS48, SH3D19 (S85L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263528	NM_183375.5(PRSS48):c.283G>A (p.Val95Met)	PRSS48, SH3D19 (V95M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295368	NM_183375.5(PRSS48):c.293A>G (p.Tyr98Cys)	PRSS48, SH3D19 (Y98C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219887	NM_183375.5(PRSS48):c.343G>A (p.Val115Ile)	PRSS48, SH3D19 (V115I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3219888	NM_183375.5(PRSS48):c.354G>T (p.Leu118Phe)	PRSS48, SH3D19 (L118F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595660	NM_183375.5(PRSS48):c.400T>C (p.Cys134Arg)	PRSS48, SH3D19 (C134R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219889	NM_183375.5(PRSS48):c.454G>A (p.Gly152Arg)	PRSS48, SH3D19 (G152R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381913	NM_183375.5(PRSS48):c.473A>G (p.Glu158Gly)	PRSS48, SH3D19 (E158G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539128	NM_183375.5(PRSS48):c.503T>C (p.Leu168Pro)	PRSS48, SH3D19 (L168P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239553	NM_183375.5(PRSS48):c.511G>A (p.Ala171Thr)	PRSS48, SH3D19 (A171T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219890	NM_183375.5(PRSS48):c.532C>T (p.Arg178Cys)	PRSS48, SH3D19 (R178C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407556	NM_183375.5(PRSS48):c.533G>A (p.Arg178His)	PRSS48, SH3D19 (R178H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2511290	NM_183375.5(PRSS48):c.539C>G (p.Ala180Gly)	PRSS48, SH3D19 (A180G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310708	NM_183375.5(PRSS48):c.575T>C (p.Leu192Ser)	PRSS48, SH3D19 (L192S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374005	NM_183375.5(PRSS48):c.596T>C (p.Ile199Thr)	PRSS48, SH3D19 (I199T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219891	NM_183375.5(PRSS48):c.599A>G (p.Lys200Arg)	PRSS48, SH3D19 (K200R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219892	NM_183375.5(PRSS48):c.762T>A (p.Asn254Lys)	PRSS48, SH3D19 (N254K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310712	NM_183375.5(PRSS48):c.837C>A (p.Phe279Leu)	PRSS48, SH3D19 (F279L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2376610	NM_183375.5(PRSS48):c.844G>A (p.Val282Ile)	PRSS48, SH3D19 (V282I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219894	NM_183375.5(PRSS48):c.928G>A (p.Val310Ile)	PRSS48, SH3D19 (V310I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310711	NM_183375.5(PRSS48):c.938T>C (p.Ile313Thr)	PRSS48, SH3D19 (I313T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024633	GRCh37/hg19 4q31.3(chr4:151592672-152212605)x3	LRBA, PRSS48 +3 more	Copy number gain	not provided	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 2685130	GRCh37/hg19 4q31.3(chr4:152103682-152253126)x1	PRSS48, SH3D19	Copy number loss	not provided	GUncertain significance
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 562980	GRCh37/hg19 4q31.3(chr4:151948130-152446550)x3	RPS3A, FHIP1A +3 more	Copy number gain	not provided	GLikely benign
Select item 562978	GRCh37/hg19 4q31.3(chr4:151603065-152213113)x3	LRBA, SNORD73A +3 more	Copy number gain	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic

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Items: 57