DUSP19[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 58772	GRCh38/hg38 2q31.2-32.1(chr2:178880151-185352829)x1	CCDC141, CERKL +104 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 148022	GRCh38/hg38 2q31.3-32.1(chr2:180942902-187372388)x1	CALCRL, CALCRL-AS1 +88 more	Copy number loss	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 549583	NC_000002.12:g.183054447_183247902dup	DUSP19, LOC129935223 +1 more	Duplication	Primary amenorrhea	GLikely benign
Select item 2383432	NM_080876.4(DUSP19):c.79A>T (p.Thr27Ser)	DUSP19 (T27S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086290	NM_080876.4(DUSP19):c.87G>C (p.Lys29Asn)	DUSP19 (K29N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526414	NM_080876.4(DUSP19):c.131A>G (p.Glu44Gly)	DUSP19 (E44G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086287	NM_080876.4(DUSP19):c.167A>G (p.Tyr56Cys)	DUSP19 (Y56C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260527	NM_080876.4(DUSP19):c.199G>C (p.Gly67Arg)	DUSP19 (G67R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234949	NM_080876.4(DUSP19):c.200G>C (p.Gly67Ala)	DUSP19 (G67A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464338	NM_080876.4(DUSP19):c.244C>A (p.His82Asn)	DUSP19 (H82N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274054	NM_080876.4(DUSP19):c.254A>G (p.Asp85Gly)	DUSP19 (D85G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566118	NM_080876.4(DUSP19):c.286C>G (p.Leu96Val)	DUSP19 (L96V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2386576	NM_080876.4(DUSP19):c.302G>A (p.Gly101Glu)	DUSP19 (G101E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086289	NM_080876.4(DUSP19):c.433G>A (p.Val145Met)	DUSP19 (V145M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2337984	NM_080876.4(DUSP19):c.436G>C (p.Val146Leu)	DUSP19 (V146L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379920	NM_080876.4(DUSP19):c.481G>A (p.Val161Ile)	DUSP19 (V110I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2298112	NM_080876.4(DUSP19):c.485T>G (p.Ile162Arg)	DUSP19 (I111R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2527211	NM_080876.4(DUSP19):c.500A>G (p.Asn167Ser)	DUSP19 (N116S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2569659	NM_080876.4(DUSP19):c.563G>T (p.Cys188Phe)	DUSP19 (C137F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2685868	GRCh37/hg19 2q32.1(chr2:183772883-184373432)x3	DUSP19, NCKAP1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1809147	GRCh37/hg19 2q32.1(chr2:183206179-184174590)x3	DNAJC10, DUSP19 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1809107	GRCh37/hg19 2q32.1(chr2:183070475-186717885)x3	DNAJC10, DUSP19 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1460270	NC_000002.11:g.(?_183790430)_(184025859_?)del	DUSP19, NCKAP1 +1 more	Deletion	not provided	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 973060	GRCh37/hg19 2q32.1(chr2:183764930-187399282)x1	DUSP19, FSIP2 +4 more	Copy number loss	not provided	Gnot provided
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 685829	GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)x1	AGPS, ATF2 +56 more	Copy number loss	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 252975	GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1	AGPS, ANKAR +62 more	Copy number loss	See cases	GPathogenic

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Items: 44