PRSS57[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57441	GRCh38/hg38 19p13.3(chr19:259395-819679)x3	BSG, BSG-AS1 +74 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	ABCA7, ARHGAP45 +168 more	Copy number gain	See cases	GPathogenic
Select item 60231	GRCh38/hg38 19p13.3(chr19:677680-899104)x3	AZU1, CFD +25 more	Copy number gain	See cases	GUncertain significance
Select item 2216165	NM_001308209.2(PRSS57):c.778G>A (p.Val260Met)	PRSS57 (V260M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219957	NM_001308209.2(PRSS57):c.754G>A (p.Ala252Thr)	PRSS57 (A252T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619817	NM_001308209.2(PRSS57):c.733G>T (p.Asp245Tyr)	PRSS57 (D245Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590197	NM_001308209.2(PRSS57):c.733G>A (p.Asp245Asn)	PRSS57 (D245N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285591	NM_001308209.2(PRSS57):c.730C>T (p.Pro244Ser)	PRSS57 (P244S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255669	NM_001308209.2(PRSS57):c.701C>T (p.Ser234Leu)	PRSS57 (S235L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599049	NM_001308209.2(PRSS57):c.676C>T (p.Arg226Trp)	PRSS57 (R226W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219955	NM_001308209.2(PRSS57):c.652G>A (p.Gly218Arg)	PRSS57 (G218R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219954	NM_001308209.2(PRSS57):c.629G>A (p.Arg210Gln)	PRSS57 (R210Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219953	NM_001308209.2(PRSS57):c.628C>T (p.Arg210Trp)	PRSS57 (R210W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219952	NM_001308209.2(PRSS57):c.611G>C (p.Ser204Thr)	PRSS57 (S204T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340458	NM_001308209.2(PRSS57):c.561C>G (p.Cys187Trp)	PRSS57 (C187W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395124	NM_001308209.2(PRSS57):c.551C>T (p.Pro184Leu)	PRSS57 (P184L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2349803	NM_001308209.2(PRSS57):c.551C>G (p.Pro184Arg)	PRSS57 (P184R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310746	NM_001308209.2(PRSS57):c.550C>T (p.Pro184Ser)	PRSS57 (P185S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375636	NM_001308209.2(PRSS57):c.520C>A (p.Leu174Met)	PRSS57 (L174M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310744	NM_001308209.2(PRSS57):c.512C>T (p.Pro171Leu)	PRSS57 (P171L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219950	NM_001308209.2(PRSS57):c.494C>T (p.Ser165Phe)	PRSS57 (S166F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219949	NM_001308209.2(PRSS57):c.463C>T (p.Arg155Trp)	PRSS57 (R156W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371571	NM_001308209.2(PRSS57):c.391G>C (p.Ala131Pro)	PRSS57 (A131P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219948	NM_001308209.2(PRSS57):c.377G>A (p.Arg126Gln)	PRSS57 (R127Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3310743	NM_001308209.2(PRSS57):c.361G>C (p.Asp121His)	PRSS57 (D122H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299194	NM_001308209.2(PRSS57):c.317C>T (p.Ala106Val)	PRSS57 (A106V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559380	NM_001308209.2(PRSS57):c.308G>A (p.Gly103Asp)	PRSS57 (G104D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219947	NM_001308209.2(PRSS57):c.284C>G (p.Ala95Gly)	PRSS57 (A95G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454261	NM_001308209.2(PRSS57):c.263G>A (p.Gly88Asp)	PRSS57 (G89D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648865	NM_001308209.2(PRSS57):c.210G>C (p.Ser70=)	PRSS57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3219946	NM_001308209.2(PRSS57):c.197G>T (p.Arg66Leu)	PRSS57 (R66L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390266	NM_001308209.2(PRSS57):c.193G>A (p.Ala65Thr)	PRSS57 (A65T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219945	NM_001308209.2(PRSS57):c.181T>G (p.Phe61Val)	PRSS57 (F62V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394480	NM_001308209.2(PRSS57):c.124C>T (p.His42Tyr)	PRSS57 (H43Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346864	NM_001308209.2(PRSS57):c.107G>C (p.Gly36Ala)	PRSS57 (G36A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362499	NM_001308209.2(PRSS57):c.103G>A (p.Gly35Arg)	PRSS57 (G35R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 207874	NM_001308209.2(PRSS57):c.89G>T (p.Gly30Val)	PRSS57 (G31V +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 3219951	NM_001308209.2(PRSS57):c.60G>A (p.Met20Ile)	PRSS57 (M20I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062384	GRCh37/hg19 19p13.3(chr19:260911-1210337)x1	ABCA7, ARHGAP45 +37 more	Copy number loss	not specified	GPathogenic
Select item 3062378	GRCh37/hg19 19p13.3(chr19:352288-1186507)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not specified	GUncertain significance
Select item 2685627	GRCh37/hg19 19p13.3(chr19:260912-713630)x1	BSG, C2CD4C +16 more	Copy number loss	not provided	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ABCA7, ABHD17A +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	NDUFS7, ONECUT3 +61 more	Duplication	Cyclical neutropenia +1 more	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 1703549	GRCh37/hg19 19p13.3(chr19:260911-1319319)	ABCA7, ARHGAP45 +43 more	Copy number loss	Peutz-Jeghers syndrome	GPathogenic
Select item 980200	GRCh37/hg19 19p13.3(chr19:414714-713630)x3	ODF3L2, CDC34 +12 more	Copy number gain	not provided	GLikely benign
Select item 832136	NC_000019.9:g.(?_589926)_(1401495_?)dup	AZU1, CFD +35 more	Duplication	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ADAMTSL5, PLEKHJ1 +106 more	Copy number gain	not provided	GPathogenic
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	MIER2, MIR1909 +100 more	Copy number gain	Global developmental delay +2 more	GLikely pathogenic
Select item 444854	GRCh37/hg19 19p13.3(chr19:266117-1094614)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442971	GRCh37/hg19 19p13.3(chr19:415092-715725)x3	ABCA7, ARHGAP45 +29 more	Copy number gain	See cases	GLikely benign
Select item 442900	GRCh37/hg19 19p13.3(chr19:260911-1965786)x3	ABCA7, ABHD17A +67 more	Copy number gain	See cases	GLikely pathogenic
Select item 395205	GRCh37/hg19 19p13.3(chr19:691897-734921)x3	PALM, PRSS57	Copy number gain	See cases	GLikely benign
Select item 394883	GRCh37/hg19 19p13.3(chr19:686890-727534)x3	PALM, PRSS57	Copy number gain	See cases	GLikely benign
Select item 394727	GRCh37/hg19 19p13.3(chr19:686890-748276)x3	PALM, PRSS57	Copy number gain	See cases	GUncertain significance
Select item 394544	GRCh37/hg19 19p13.3(chr19:686890-734921)x3	PALM, PRSS57	Copy number gain	See cases	GLikely benign
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic
Select item 252977	GRCh37/hg19 19p13.3(chr19:260912-1163934)x3	ABCA7, ARHGAP45 +36 more	Copy number gain	See cases	GPathogenic

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Items: 72