PRSS21[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 59427	GRCh38/hg38 16p13.3(chr16:2494804-3246579)x1	LOC130058276, LOC130058277 +148 more	Copy number loss	See cases	GPathogenic
Select item 58620	GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3	ADCY9, BICDL2 +180 more	Copy number gain	See cases	GPathogenic
Select item 59949	GRCh38/hg38 16p13.3(chr16:2786223-2913719)x3	FLYWCH1, FLYWCH2 +20 more	Copy number gain	See cases	GUncertain significance
Select item 2219022	NM_006799.4(PRSS21):c.7G>A (p.Ala3Thr)	LOC130058270, PRSS21 (A3T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219820	NM_006799.4(PRSS21):c.47C>G (p.Ala16Gly)	LOC130058270, PRSS21 (A16G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617881	NM_006799.4(PRSS21):c.199T>C (p.Cys67Arg)	PRSS21 (C67R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379823	NM_006799.4(PRSS21):c.235A>T (p.Thr79Ser)	PRSS21 (T79S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3219818	NM_006799.4(PRSS21):c.236C>T (p.Thr79Met)	PRSS21 (T79M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482215	NM_006799.4(PRSS21):c.247T>A (p.Cys83Ser)	PRSS21 (C83S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254535	NM_006799.4(PRSS21):c.254A>C (p.Glu85Ala)	PRSS21 (E85A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310410	NM_006799.4(PRSS21):c.341C>A (p.Ala114Asp)	PRSS21 (A112D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310670	NM_006799.4(PRSS21):c.373T>C (p.Tyr125His)	PRSS21 (Y123H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255980	NM_006799.4(PRSS21):c.386G>A (p.Arg129His)	PRSS21 (R129H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2306250	NM_006799.4(PRSS21):c.421G>T (p.Val141Leu)	PRSS21 (V139L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2591759	NM_006799.4(PRSS21):c.426G>C (p.Lys142Asn)	PRSS21 (K140N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591994	NM_006799.4(PRSS21):c.433G>C (p.Ala145Pro)	PRSS21 (A145P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473487	NM_006799.4(PRSS21):c.448A>G (p.Thr150Ala)	PRSS21 (T150A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469618	NM_006799.4(PRSS21):c.464C>T (p.Pro155Leu)	PRSS21 (P153L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219821	NM_006799.4(PRSS21):c.503G>A (p.Arg168Gln)	PRSS21 (R166Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219822	NM_006799.4(PRSS21):c.607A>G (p.Met203Val)	PRSS21 (M201V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219823	NM_006799.4(PRSS21):c.680C>T (p.Ala227Val)	PRSS21 (A227V +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2265037	NM_006799.4(PRSS21):c.698C>G (p.Ala233Gly)	PRSS21 (A231G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235462	NM_006799.4(PRSS21):c.884C>T (p.Pro295Leu)	PRSS21 (P295L +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3219825	NM_006799.4(PRSS21):c.893C>T (p.Pro298Leu)	PRSS21 (P296L +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3219826	NM_006799.4(PRSS21):c.898C>T (p.Leu300Phe)	PRSS21 (L286F +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2377753	NM_006799.4(PRSS21):c.925C>G (p.Pro309Ala)	PRSS21 (P309A +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3243524	NC_000016.9:g.(?_2550259)_(3154076_?)del	AMDHD2, ATP6V0C +26 more	Deletion	Caused by mutation in the TBC1 domain family, member 24 +2 more	GPathogenic
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 2684776	GRCh37/hg19 16p13.3(chr16:2643569-3716657)x3	BICDL2, C16orf90 +42 more	Copy number gain	not provided	GUncertain significance
Select item 2684774	GRCh37/hg19 16p13.3(chr16:2606711-3935836)x3	BICDL2, C16orf90 +43 more	Copy number gain	not provided	GPathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 1808005	GRCh37/hg19 16p13.3(chr16:2794763-2993610)x1	ELOB, FLYWCH1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 815770	GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3	ADCY9, BICDL2 +56 more	Copy number gain	not provided	GPathogenic
Select item 688363	GRCh37/hg19 16p13.3(chr16:2716924-3055626)x3	ELOB, FLYWCH1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 687933	GRCh37/hg19 16p13.3(chr16:2859583-3056563)x3	FLYWCH1, FLYWCH2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 685548	GRCh37/hg19 16p13.3(chr16:2817166-3056563)x3	ELOB, FLYWCH1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564258	GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3	ADCY9, BICDL2 +51 more	Copy number gain	not provided	GPathogenic
Select item 564256	GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	ABCA3, ADCY9 +103 more	Copy number gain	not provided	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 442735	GRCh37/hg19 16p13.3(chr16:2606710-3382546)x3	BICDL2, CLDN6 +30 more	Copy number gain	See cases	GUncertain significance
Select item 441740	GRCh37/hg19 16p13.3(chr16:643377-3125125)x3	ABCA3, AMDHD2 +111 more	Copy number gain	See cases	GUncertain significance
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395186	GRCh37/hg19 16p13.3(chr16:2848605-2880710)x3	PRSS21, PRSS41 +1 more	Copy number gain	See cases	GLikely benign
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 393747	GRCh37/hg19 16p13.3(chr16:2848605-2867891)x3	PRSS21, PRSS41	Copy number gain	See cases	GLikely benign
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 253470	GRCh37/hg19 16p13.3(chr16:2867891-3942436)x3	BICDL2, C16orf90 +36 more	Copy number gain	See cases	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 67