ClinVar for Gene (Select 260429) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310689	NM_152891.3(PRSS33):c.290T>G (p.Leu97Arg)	PRSS33 (L97R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310688	NM_152891.3(PRSS33):c.694G>T (p.Gly232Trp)	PRSS33 (G232W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310687	NM_152891.3(PRSS33):c.688G>A (p.Asp230Asn)	PRSS33 (D230N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310686	NM_152891.3(PRSS33):c.836G>C (p.Ser279Thr)	PRSS33 (S279T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310685	NM_152891.3(PRSS33):c.56G>T (p.Gly19Val)	PRSS33 (G19V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310684	NM_152891.3(PRSS33):c.598G>A (p.Gly200Ser)	PRSS33 (G200S)	Single nucleotide variant (missense variant +1 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 3219846	NM_152891.3(PRSS33):c.85G>A (p.Gly29Arg)	PRSS33 (G29R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219845	NM_152891.3(PRSS33):c.742G>A (p.Val248Met)	PRSS33 (V248M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219844	NM_152891.3(PRSS33):c.718T>C (p.Ser240Pro)	PRSS33 (S240P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219843	NM_152891.3(PRSS33):c.511G>A (p.Gly171Arg)	PRSS33 (G171R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219842	NM_152891.3(PRSS33):c.371G>A (p.Arg124His)	PRSS33 (R124H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219841	NM_152891.3(PRSS33):c.205C>T (p.Pro69Ser)	PRSS33 (P69S)	Single nucleotide variant (missense variant +1 more)	not specified	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 2613098	NM_152891.3(PRSS33):c.196C>G (p.Leu66Val)	PRSS33 (L66V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607852	NM_152891.3(PRSS33):c.469G>C (p.Gly157Arg)	PRSS33 (G157R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540604	NM_152891.3(PRSS33):c.491G>T (p.Gly164Val)	PRSS33 (G164V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508126	NM_152891.3(PRSS33):c.364G>T (p.Gly122Trp)	PRSS33 (G122W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474825	NM_152891.3(PRSS33):c.545G>A (p.Gly182Glu)	PRSS33 (G182E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459632	NM_152891.3(PRSS33):c.560T>C (p.Leu187Pro)	PRSS33 (L187P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2373450	NM_152891.3(PRSS33):c.571C>T (p.Arg191Cys)	PRSS33 (R191C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373099	NM_152891.3(PRSS33):c.484G>C (p.Val162Leu)	PRSS33 (V162L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364680	NM_152891.3(PRSS33):c.149G>T (p.Trp50Leu)	PRSS33 (W50L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364238	NM_152891.3(PRSS33):c.131G>A (p.Arg44Gln)	PRSS33 (R44Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2321776	NM_152891.3(PRSS33):c.830G>A (p.Arg277His)	PRSS33 (R277H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2297812	NM_152891.3(PRSS33):c.259G>A (p.Glu87Lys)	PRSS33 (E87K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240385	NM_152891.3(PRSS33):c.571C>A (p.Arg191Ser)	PRSS33 (R191S)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 441018	NM_152891.3(PRSS33):c.531G>A (p.Trp177Ter)	PRSS33 (W177*)	Single nucleotide variant (nonsense +1 more)	not provided	Gnot provided
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
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 154703	GRCh38/hg38 16p13.3(chr16:2586110-2804741)x1	ELOB, ERVK13-1 +22 more	Copy number loss	See cases	GUncertain significance
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 59949	GRCh38/hg38 16p13.3(chr16:2786223-2913719)x3	FLYWCH1, FLYWCH2 +20 more	Copy number gain	See cases	GUncertain significance
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 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 67