DUSP23[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 2353143	NM_001319658.2(DUSP23):c.13C>T (p.Pro5Ser)	DUSP23, LOC129931678 (P5S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410173	NM_001319658.2(DUSP23):c.100C>G (p.Leu34Val)	DUSP23, LOC129931678 (L34V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234891	NM_001319658.2(DUSP23):c.166C>G (p.Leu56Val)	DUSP23, LOC129931678 (L56V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526726	NM_001319658.2(DUSP23):c.176A>T (p.His59Leu)	DUSP23, LOC129931678 (H59L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496114	NM_001319658.2(DUSP23):c.177C>A (p.His59Gln)	DUSP23, LOC129931678 (H59Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475893	NM_001319658.2(DUSP23):c.199T>C (p.Cys67Arg)	DUSP23 (C67R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475894	NM_001319658.2(DUSP23):c.200G>T (p.Cys67Phe)	DUSP23 (C67F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475895	NM_001319658.2(DUSP23):c.202C>T (p.Pro68Ser)	DUSP23 (P68S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279976	NM_001319658.2(DUSP23):c.296T>G (p.Phe99Cys)	DUSP23 (F99C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385797	NM_001319658.2(DUSP23):c.341G>A (p.Arg114Gln)	DUSP23 (R114Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203912	NM_001319658.2(DUSP23):c.437A>G (p.Tyr146Cys)	DUSP23 (Y146C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	TAGLN2, TOMM40L +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 20