PAQR4[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 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	LOC105371046, LOC105371050 +842 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	LOC130058149, LOC130058150 +925 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 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 2256838	NM_152341.5(PAQR4):c.8T>A (p.Phe3Tyr)	LOC130058285, PAQR4 (F3Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378675	NM_152341.5(PAQR4):c.65A>G (p.Asn22Ser)	PAQR4 (N22S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330641	NM_152341.5(PAQR4):c.94G>A (p.Ala32Thr)	LOC130058286, PAQR4 (A32T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373109	NM_152341.5(PAQR4):c.109G>A (p.Gly37Ser)	LOC130058286, PAQR4 (G37S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208531	NM_152341.5(PAQR4):c.212C>T (p.Pro71Leu)	PAQR4 (P71L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388095	NM_152341.5(PAQR4):c.226G>C (p.Gly76Arg)	PAQR4 (G76R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335788	NM_152341.5(PAQR4):c.232G>T (p.Asp78Tyr)	PAQR4 (D78Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208532	NM_152341.5(PAQR4):c.340C>T (p.Arg114Trp)	PAQR4 (R75W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208533	NM_152341.5(PAQR4):c.370T>C (p.Cys124Arg)	PAQR4 (C124R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607714	NM_152341.5(PAQR4):c.383C>T (p.Thr128Ile)	PAQR4 (T89I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532565	NM_152341.5(PAQR4):c.440C>T (p.Pro147Leu)	PAQR4 (P73L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254363	NM_152341.5(PAQR4):c.481G>T (p.Gly161Cys)	PAQR4 (G161C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209050	NM_152341.5(PAQR4):c.487C>T (p.Arg163Cys)	PAQR4 (R163C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538489	NM_152341.5(PAQR4):c.502C>T (p.Pro168Ser)	PAQR4 (P129S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208535	NM_152341.5(PAQR4):c.524G>A (p.Arg175Gln)	PAQR4 (R108Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473499	NM_152341.5(PAQR4):c.547G>A (p.Ala183Thr)	PAQR4 (A116T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457213	NM_152341.5(PAQR4):c.627G>A (p.Met209Ile)	PAQR4 (M135I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570434	NM_152341.5(PAQR4):c.631G>A (p.Ala211Thr)	PAQR4 (A137T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619057	NM_152341.5(PAQR4):c.638C>T (p.Ala213Val)	PAQR4 (A139V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389625	NM_152341.5(PAQR4):c.667C>T (p.Arg223Cys)	PAQR4 (R184C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208536	NM_152341.5(PAQR4):c.668G>A (p.Arg223His)	PAQR4 (R149H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472853	NM_152341.5(PAQR4):c.694C>T (p.Arg232Cys)	PAQR4 (R158C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208537	NM_152341.5(PAQR4):c.741C>T (p.Ser247=)	PAQR4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3208538	NM_152341.5(PAQR4):c.765C>T (p.His255=)	PAQR4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2252269	NM_152341.5(PAQR4):c.766G>A (p.Ala256Thr)	PAQR4 (A256T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371960	NM_152341.5(PAQR4):c.775G>A (p.Val259Met)	PAQR4 (V192M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278951	NM_152341.5(PAQR4):c.784C>G (p.Leu262Val)	PAQR4 (L223V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606624	NM_152341.5(PAQR4):c.805G>A (p.Ala269Thr)	PAQR4 (A195T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213892	NM_004203.5(PKMYT1):c.1457G>A (p.Arg486Gln)	PAQR4, PKMYT1 (R417Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2350546	NM_004203.5(PKMYT1):c.1369C>T (p.Arg457Trp)	PAQR4, PKMYT1 (R457W +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	ADCY9, CDIP1 +52 more	Copy number loss	not provided	GPathogenic
Select item 3024594	GRCh37/hg19 16p13.3(chr16:2979687-3220680)x3	ZNF205, ZNF213 +13 more	Copy number gain	not provided	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	PRSS21, PRSS22 +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 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	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	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +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	DPEP2, DPEP3 +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 394766	GRCh37/hg19 16p13.3(chr16:2998808-3062608)x3	CLDN9, FLYWCH1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 375693	maternal UPD(16p)	ITGAM, NPIPA3 +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: 74