PRSS27[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 61

	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 154402	GRCh38/hg38 16p13.3(chr16:2365461-2764284)x1	AMDHD2, ATP6V0C +58 more	Copy number loss	See cases	GUncertain significance
Select item 152712	GRCh38/hg38 16p13.3(chr16:2406643-2782411)x1	AMDHD2, ATP6V0C +59 more	Copy number loss	See cases	GLikely pathogenic
Select item 59427	GRCh38/hg38 16p13.3(chr16:2494804-3246579)x1	LOC130058276, LOC130058277 +148 more	Copy number loss	See cases	GPathogenic
Select item 154703	GRCh38/hg38 16p13.3(chr16:2586110-2804741)x1	ELOB, ERVK13-1 +22 more	Copy number loss	See cases	GUncertain significance
Select item 2608691	NM_031948.5(PRSS27):c.866A>G (p.Gln289Arg)	PRSS27 (Q187R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540179	NM_031948.5(PRSS27):c.832A>G (p.Lys278Glu)	PRSS27 (K278E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2235798	NM_031948.5(PRSS27):c.814A>G (p.Ile272Val)	PRSS27 (I272V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219839	NM_031948.5(PRSS27):c.790C>T (p.Arg264Cys)	PRSS27 (R264C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310681	NM_031948.5(PRSS27):c.758G>A (p.Cys253Tyr)	PRSS27 (C253Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411228	NM_031948.5(PRSS27):c.652G>A (p.Glu218Lys)	PRSS27 (E116K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292389	NM_031948.5(PRSS27):c.631G>A (p.Asp211Asn)	PRSS27 (D109N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345908	NM_031948.5(PRSS27):c.607T>A (p.Tyr203Asn)	PRSS27 (Y101N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406234	NM_031948.5(PRSS27):c.544G>A (p.Ala182Thr)	PRSS27 (A182T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299899	NM_031948.5(PRSS27):c.527G>C (p.Arg176Pro)	PRSS27 (R176P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310682	NM_031948.5(PRSS27):c.491G>A (p.Gly164Asp)	PRSS27 (G164D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219838	NM_031948.5(PRSS27):c.490G>A (p.Gly164Ser)	PRSS27 (G164S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532503	NM_031948.5(PRSS27):c.463G>T (p.Gly155Cys)	PRSS27 (G53C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782011	NM_031948.5(PRSS27):c.429G>A (p.Val143=)	PRSS27	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2409049	NM_031948.5(PRSS27):c.296G>C (p.Gly99Ala)	PRSS27 (G99A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2457882	NM_031948.5(PRSS27):c.250T>C (p.Ser84Pro)	PRSS27 (S84P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3219836	NM_031948.5(PRSS27):c.181G>T (p.Gly61Trp)	LOC130058265, PRSS27 (G61W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554106	NM_031948.5(PRSS27):c.170G>A (p.Ser57Asn)	LOC130058265, PRSS27 (S57N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622135	NM_031948.5(PRSS27):c.105G>A (p.Met35Ile)	PRSS27 (M35I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310680	NM_031948.5(PRSS27):c.49T>A (p.Ser17Thr)	PRSS27 (S17T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 58620	GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3	ADCY9, BICDL2 +180 more	Copy number gain	See cases	GPathogenic
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 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1328466	GRCh37/hg19 16p13.3(chr16:2635096-2830625)x1	ELOB, KCTD5 +3 more	Copy number loss	not provided	GUncertain significance
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 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 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 61