ClinVar for Gene (Select 64063) - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310674	NM_022119.4(PRSS22):c.37G>A (p.Gly13Ser)	PRSS22 (G13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310673	NM_022119.4(PRSS22):c.226G>A (p.Ala76Thr)	PRSS22 (A76T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310671	NM_022119.4(PRSS22):c.820G>A (p.Val274Ile)	PRSS22 (V274I)	Single nucleotide variant (missense variant)	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 3219830	NM_022119.4(PRSS22):c.833T>C (p.Leu278Pro)	PRSS22 (L278P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219829	NM_022119.4(PRSS22):c.20C>T (p.Pro7Leu)	PRSS22 (P7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219828	NM_022119.4(PRSS22):c.160G>A (p.Glu54Lys)	PRSS22 (E54K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219827	NM_022119.4(PRSS22):c.146G>A (p.Arg49Gln)	PRSS22 (R49Q)	Single nucleotide variant (missense variant)	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 2623206	NM_022119.4(PRSS22):c.502C>T (p.His168Tyr)	PRSS22 (H168Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617192	NM_022119.4(PRSS22):c.706G>T (p.Asp236Tyr)	PRSS22 (D236Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591331	NM_022119.4(PRSS22):c.145C>T (p.Arg49Trp)	PRSS22 (R49W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549875	NM_022119.4(PRSS22):c.65T>C (p.Leu22Pro)	PRSS22 (L22P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532625	NM_022119.4(PRSS22):c.138G>T (p.Gln46His)	PRSS22 (Q46H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517767	NM_022119.4(PRSS22):c.932C>G (p.Ser311Cys)	PRSS22 (S311C)	Single nucleotide variant (missense variant)	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 2405633	NM_022119.4(PRSS22):c.350G>A (p.Arg117Gln)	PRSS22 (R117Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400177	NM_022119.4(PRSS22):c.248G>A (p.Arg83His)	PRSS22 (R83H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399462	NM_022119.4(PRSS22):c.437G>A (p.Arg146His)	PRSS22 (R146H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341538	NM_022119.4(PRSS22):c.639G>C (p.Trp213Cys)	PRSS22 (W213C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315344	NM_022119.4(PRSS22):c.588G>T (p.Gln196His)	PRSS22 (Q196H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305324	NM_022119.4(PRSS22):c.220C>G (p.His74Asp)	PRSS22 (H74D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301802	NM_022119.4(PRSS22):c.794G>T (p.Gly265Val)	PRSS22 (G265V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239117	NM_022119.4(PRSS22):c.604A>G (p.Ile202Val)	PRSS22 (I202V)	Single nucleotide variant (missense variant)	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 687933	GRCh37/hg19 16p13.3(chr16:2859583-3056563)x3	FLYWCH1, FLYWCH2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 687658	GRCh37/hg19 16p13.3(chr16:2899096-3003863)x1	FLYWCH1, FLYWCH2 +1 more	Copy number loss	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 442459	GRCh37/hg19 16p13.3(chr16:2891391-4440397)x3	ADCY9, BICDL2 +42 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 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
Select item 161756	NM_022119.4(PRSS22):c.806G>A (p.Arg269His)	PRSS22 (R269H)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
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 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 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	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 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