ClinVar for Gene (Select 11266) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274045	NM_007240.3(DUSP12):c.544T>C (p.Tyr182His)	DUSP12 (Y182H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274044	NM_007240.3(DUSP12):c.331G>C (p.Val111Leu)	DUSP12 (V111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274043	NM_007240.3(DUSP12):c.191C>T (p.Pro64Leu)	DUSP12, LOC129931790 (P64L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274042	NM_007240.3(DUSP12):c.754A>G (p.Thr252Ala)	DUSP12 (T252A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086266	NM_007240.3(DUSP12):c.746A>G (p.Lys249Arg)	DUSP12 (K249R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086265	NM_007240.3(DUSP12):c.713G>A (p.Arg238His)	DUSP12 (R238H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3086264	NM_007240.3(DUSP12):c.65G>C (p.Ser22Thr)	DUSP12, LOC129931790 (S22T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3086263	NM_007240.3(DUSP12):c.574C>G (p.Pro192Ala)	DUSP12 (P192A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086262	NM_007240.3(DUSP12):c.395A>C (p.Lys132Thr)	DUSP12 (K132T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086261	NM_007240.3(DUSP12):c.259G>A (p.Glu87Lys)	DUSP12, LOC129931790 (E87K)	Single nucleotide variant (missense variant)	not specified	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 2598113	NM_007240.3(DUSP12):c.552A>C (p.Leu184Phe)	DUSP12 (L184F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518381	NM_007240.3(DUSP12):c.826A>G (p.Met276Val)	DUSP12 (M276V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481556	NM_007240.3(DUSP12):c.74G>A (p.Gly25Glu)	DUSP12, LOC129931790 (G25E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455824	NM_007240.3(DUSP12):c.865C>A (p.Leu289Ile)	DUSP12 (L289I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423233	NC_000001.10:g.(?_161279609)_(161751809_?)dup	ATF6, CFAP126 +11 more	Duplication	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2387487	NM_007240.3(DUSP12):c.184G>A (p.Glu62Lys)	DUSP12, LOC129931790 (E62K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375032	NM_007240.3(DUSP12):c.500C>T (p.Ala167Val)	DUSP12 (A167V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366907	NM_007240.3(DUSP12):c.230G>A (p.Arg77His)	DUSP12, LOC129931790 (R77H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364296	NM_007240.3(DUSP12):c.559G>C (p.Val187Leu)	DUSP12 (V187L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342545	NM_007240.3(DUSP12):c.940A>G (p.Thr314Ala)	DUSP12 (T314A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339041	NM_007240.3(DUSP12):c.917A>G (p.Gln306Arg)	DUSP12 (Q306R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329152	NM_007240.3(DUSP12):c.187G>A (p.Glu63Lys)	DUSP12, LOC129931790 (E63K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328501	NM_007240.3(DUSP12):c.302T>C (p.Ile101Thr)	DUSP12 (I101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296982	NM_007240.3(DUSP12):c.865C>T (p.Leu289Phe)	DUSP12 (L289F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256260	NM_007240.3(DUSP12):c.25G>A (p.Asp9Asn)	DUSP12, LOC129931790 (D9N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249052	NM_007240.3(DUSP12):c.743A>C (p.His248Pro)	DUSP12 (H248P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
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 1375513	NC_000001.10:g.(?_161645027)_(161772082_?)dup	ATF6, DUSP12 +3 more	Duplication	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 688334	GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3	ADAMTS4, APOA2 +42 more	Copy number gain	not provided	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 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 565193	GRCh37/hg19 1q23.3(chr1:161726804-161867948)x1	DUSP12, ATF6	Copy number loss	not provided	GUncertain significance
Select item 565192	GRCh37/hg19 1q23.3(chr1:161469309-162517412)x3	FCGR2B, C1orf226 +14 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	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

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Links from Gene

Items: 43