PRSS50[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 2376565	NM_013270.5(PRSS50):c.1124T>A (p.Leu375His)	PRSS50 (L375H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219895	NM_013270.5(PRSS50):c.1121C>T (p.Ala374Val)	PRSS50 (A374V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310718	NM_013270.5(PRSS50):c.1078C>A (p.Gln360Lys)	PRSS50 (Q360K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219901	NM_013270.5(PRSS50):c.962C>T (p.Thr321Met)	PRSS50 (T321M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509779	NM_013270.5(PRSS50):c.890C>T (p.Ala297Val)	PRSS50 (A297V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236126	NM_013270.5(PRSS50):c.883A>G (p.Met295Val)	PRSS50 (M295V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331931	NM_013270.5(PRSS50):c.807C>G (p.Asn269Lys)	PRSS50 (N269K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310717	NM_013270.5(PRSS50):c.786G>C (p.Glu262Asp)	PRSS50 (E262D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370675	NM_013270.5(PRSS50):c.773G>A (p.Arg258Gln)	PRSS50 (R258Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250669	NM_013270.5(PRSS50):c.754+5G>C	PRSS50	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2512044	NM_013270.5(PRSS50):c.716G>A (p.Arg239His)	PRSS50 (R239H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712456	NM_013270.5(PRSS50):c.715C>T (p.Arg239Cys)	PRSS50 (R239C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2335383	NM_013270.5(PRSS50):c.691G>A (p.Asp231Asn)	PRSS50 (D231N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369423	NM_013270.5(PRSS50):c.689C>T (p.Thr230Met)	PRSS50 (T230M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544416	NM_013270.5(PRSS50):c.688A>G (p.Thr230Ala)	PRSS50 (T230A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239780	NM_013270.5(PRSS50):c.667C>T (p.Arg223Trp)	PRSS50 (R223W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2555184	NM_013270.5(PRSS50):c.622G>A (p.Gly208Ser)	PRSS50 (G208S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219900	NM_013270.5(PRSS50):c.577C>T (p.Arg193Trp)	PRSS50 (R193W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310716	NM_013270.5(PRSS50):c.528G>C (p.Gln176His)	PRSS50 (Q176H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363197	NM_013270.5(PRSS50):c.524C>T (p.Thr175Met)	PRSS50 (T175M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555623	NM_013270.5(PRSS50):c.416C>T (p.Ala139Val)	PRSS50 (A139V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339437	NM_013270.5(PRSS50):c.365G>C (p.Arg122Pro)	PRSS50 (R122P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219899	NM_013270.5(PRSS50):c.352G>A (p.Glu118Lys)	PRSS50 (E118K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783372	NM_013270.5(PRSS50):c.292G>A (p.Val98Ile)	PRSS50 (V98I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3219897	NM_013270.5(PRSS50):c.260T>C (p.Met87Thr)	PRSS50 (M87T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238457	NM_013270.5(PRSS50):c.253A>G (p.Thr85Ala)	PRSS50 (T85A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555036	NM_013270.5(PRSS50):c.251C>T (p.Ser84Leu)	PRSS50 (S84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237653	NM_013270.5(PRSS50):c.185A>G (p.Lys62Arg)	PRSS50 (K62R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219896	NM_013270.5(PRSS50):c.158C>T (p.Ala53Val)	PRSS50 (A53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525473	NM_013270.5(PRSS50):c.143C>G (p.Ser48Cys)	PRSS50 (S48C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310713	NM_013270.5(PRSS50):c.70G>A (p.Ala24Thr)	PRSS50 (A24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521956	NM_013270.5(PRSS50):c.44G>A (p.Arg15Gln)	PRSS50 (R15Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219898	NM_013270.5(PRSS50):c.29G>C (p.Arg10Pro)	PRSS50 (R10P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 814440	GRCh37/hg19 3p21.31(chr3:46656350-46990919)x3	ALS2CL, CCDC12 +4 more	Copy number gain	not provided	GUncertain significance
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 41