PRSS38[gene] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	ABCB10, ACBD3 +309 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 147492	GRCh38/hg38 1q42.13(chr1:227127485-227859407)x1	CDC42BPA, JMJD4 +27 more	Copy number loss	See cases	GUncertain significance
Select item 145605	GRCh38/hg38 1q42.13(chr1:227613596-229249335)x4	ARF1, BTNL10 +100 more	Copy number gain	See cases	GLikely pathogenic
Select item 775676	NM_183062.3(PRSS38):c.19G>A (p.Val7Ile)	PRSS38 (V7I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3219885	NM_183062.3(PRSS38):c.94G>A (p.Ala32Thr)	PRSS38 (A32T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365364	NM_183062.3(PRSS38):c.137C>T (p.Thr46Ile)	PRSS38 (T46I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232255	NM_183062.3(PRSS38):c.142A>G (p.Ser48Gly)	PRSS38 (S48G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219876	NM_183062.3(PRSS38):c.151T>G (p.Cys51Gly)	PRSS38 (C51G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219877	NM_183062.3(PRSS38):c.152G>A (p.Cys51Tyr)	PRSS38 (C51Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367094	NM_183062.3(PRSS38):c.157C>T (p.Arg53Trp)	PRSS38 (R53W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775677	NM_183062.3(PRSS38):c.165C>T (p.Ser55=)	PRSS38	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3310704	NM_183062.3(PRSS38):c.185G>A (p.Gly62Asp)	PRSS38 (G62D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260721	NM_183062.3(PRSS38):c.187G>A (p.Gly63Ser)	PRSS38 (G63S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219878	NM_183062.3(PRSS38):c.190G>A (p.Val64Ile)	PRSS38 (V64I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771320	NM_183062.3(PRSS38):c.198G>A (p.Ala66=)	PRSS38	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 767755	NM_183062.3(PRSS38):c.201C>T (p.Pro67=)	PRSS38	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780307	NM_183062.3(PRSS38):c.229G>A (p.Val77Met)	PRSS38 (V77M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2569696	NM_183062.3(PRSS38):c.233A>G (p.His78Arg)	PRSS38 (H78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767756	NM_183062.3(PRSS38):c.237C>T (p.Tyr79=)	PRSS38	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3219879	NM_183062.3(PRSS38):c.256G>A (p.Gly86Ser)	PRSS38 (G86S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540412	NM_183062.3(PRSS38):c.259G>A (p.Gly87Ser)	PRSS38 (G87S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315267	NM_183062.3(PRSS38):c.296C>T (p.Ala99Val)	PRSS38 (A99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771321	NM_183062.3(PRSS38):c.311+6C>T	PRSS38	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3219880	NM_183062.3(PRSS38):c.343G>A (p.Val115Ile)	PRSS38 (V115I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639980	NM_183062.3(PRSS38):c.369C>T (p.Ala123=)	PRSS38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769552	NM_183062.3(PRSS38):c.377A>T (p.His126Leu)	PRSS38 (H126L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2285238	NM_183062.3(PRSS38):c.425A>G (p.Glu142Gly)	PRSS38 (E142G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219881	NM_183062.3(PRSS38):c.499C>T (p.Leu167Phe)	PRSS38 (L167F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523263	NM_183062.3(PRSS38):c.526G>A (p.Val176Met)	PRSS38 (V176M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310706	NM_183062.3(PRSS38):c.544A>G (p.Asn182Asp)	PRSS38 (N182D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777335	NM_183062.3(PRSS38):c.654C>T (p.Tyr218=)	PRSS38	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2588165	NM_183062.3(PRSS38):c.655G>A (p.Gly219Arg)	PRSS38 (G219R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243049	NM_183062.3(PRSS38):c.688T>C (p.Cys230Arg)	PRSS38 (C230R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328130	NM_183062.3(PRSS38):c.697G>A (p.Asp233Asn)	PRSS38 (D233N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380161	NM_183062.3(PRSS38):c.724G>A (p.Glu242Lys)	PRSS38 (E242K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2639981	NM_183062.3(PRSS38):c.768C>T (p.Ser256=)	PRSS38	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2212292	NM_183062.3(PRSS38):c.800G>A (p.Arg267Gln)	PRSS38 (R267Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2372503	NM_183062.3(PRSS38):c.824C>T (p.Pro275Leu)	PRSS38 (P275L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3219882	NM_183062.3(PRSS38):c.826G>A (p.Gly276Arg)	PRSS38 (G276R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3219883	NM_183062.3(PRSS38):c.830T>A (p.Val277Glu)	PRSS38 (V277E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2371905	NM_183062.3(PRSS38):c.839G>A (p.Ser280Asn)	PRSS38 (S280N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3219884	NM_183062.3(PRSS38):c.850T>C (p.Phe284Leu)	PRSS38 (F284L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3310707	NM_183062.3(PRSS38):c.887C>T (p.Pro296Leu)	PRSS38 (P296L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3310705	NM_183062.3(PRSS38):c.926T>C (p.Leu309Pro)	PRSS38 (L309P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809265	GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3	ABCB10, ACTA1 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527592	GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227)	ABCB10, ACBD3 +55 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340712	GRCh37/hg19 1q42.13(chr1:228021877-228116714)x1	PRSS38, WNT9A	Copy number loss	not provided	GLikely benign
Select item 1328448	GRCh37/hg19 1q42.13(chr1:227782268-229506509)x1	ARF1, BTNL10 +22 more	Copy number loss	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	not provided	GPathogenic
Select item 814166	GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1	PSEN2, FBXO28 +42 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 686432	GRCh37/hg19 1q42.13(chr1:227772973-228326173)x3	ARF1, C1orf35 +7 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565231	GRCh37/hg19 1q42.13(chr1:227696109-229152386)x3	ARF1, GJC2 +19 more	Copy number gain	not provided	GLikely pathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442184	GRCh37/hg19 1q42.13(chr1:227774916-228335196)x3	ARF1, C1orf35 +8 more	Copy number gain	See cases	GUncertain significance
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253906	GRCh37/hg19 1q42.12-42.13(chr1:226871745-229906954)x1	GJC2, TRIM17 +31 more	Copy number loss	See cases	GUncertain significance
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 82