DCST1[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 60040	GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1	LOC129931527, LOC129931528 +91 more	Copy number loss	See cases	GPathogenic
Select item 151444	GRCh38/hg38 1q21.3-22(chr1:155006546-155464263)x3	ADAM15, ADAM15-EFNA4 +67 more	Copy number gain	See cases	GUncertain significance
Select item 2559069	NM_152494.4(DCST1):c.34G>A (p.Gly12Arg)	DCST1 (G12R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3271129	NM_152494.4(DCST1):c.37C>G (p.Gln13Glu)	DCST1 (Q13E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533798	NM_152494.4(DCST1):c.88C>G (p.Leu30Val)	DCST1 (L30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080594	NM_152494.4(DCST1):c.119G>A (p.Arg40His)	DCST1 (R40H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616355	NM_152494.4(DCST1):c.125C>A (p.Pro42Gln)	DCST1 (P42Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548323	NM_152494.4(DCST1):c.173G>T (p.Gly58Val)	DCST1 (G58V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271124	NM_152494.4(DCST1):c.210C>A (p.Asn70Lys)	DCST1 (N70K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080599	NM_152494.4(DCST1):c.364G>C (p.Gly122Arg)	DCST1 (G122R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558592	NM_152494.4(DCST1):c.370G>A (p.Ala124Thr)	DCST1 (A99T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278278	NM_152494.4(DCST1):c.437C>T (p.Ser146Leu)	DCST1 (S121L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712086	NM_152494.4(DCST1):c.473C>T (p.Thr158Ile)	DCST1 (T133I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2598531	NM_152494.4(DCST1):c.475C>T (p.Arg159Cys)	DCST1 (R159C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382475	NM_152494.4(DCST1):c.476G>A (p.Arg159His)	DCST1 (R159H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363419	NM_152494.4(DCST1):c.487C>T (p.Arg163Cys)	DCST1 (R138C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271120	NM_152494.4(DCST1):c.497C>T (p.Thr166Ile)	DCST1 (T166I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282448	NM_152494.4(DCST1):c.525C>A (p.Asp175Glu)	DCST1 (D175E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080600	NM_152494.4(DCST1):c.562C>T (p.Arg188Trp)	DCST1 (R163W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789942	NM_152494.4(DCST1):c.596C>T (p.Ala199Val)	DCST1 (A174V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3271128	NM_152494.4(DCST1):c.632A>G (p.Asp211Gly)	DCST1 (D186G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492669	NM_152494.4(DCST1):c.656C>T (p.Ala219Val)	DCST1 (A194V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516673	NM_152494.4(DCST1):c.674G>A (p.Arg225His)	DCST1 (R225H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3271125	NM_152494.4(DCST1):c.768A>G (p.Ile256Met)	DCST1 (I231M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370066	NM_152494.4(DCST1):c.779G>A (p.Arg260His)	DCST1 (R235H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080601	NM_152494.4(DCST1):c.790G>C (p.Asp264His)	DCST1 (D239H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264363	NM_152494.4(DCST1):c.793C>T (p.Arg265Cys)	DCST1 (R240C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080602	NM_152494.4(DCST1):c.794G>A (p.Arg265His)	DCST1 (R265H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2206653	NM_152494.4(DCST1):c.839C>T (p.Thr280Ile)	DCST1 (T255I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531700	NM_152494.4(DCST1):c.862A>C (p.Lys288Gln)	DCST1 (K288Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347981	NM_152494.4(DCST1):c.966G>C (p.Gln322His)	DCST1 (Q297H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455650	NM_152494.4(DCST1):c.1061G>C (p.Arg354Pro)	DCST1 (R354P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226766	NM_152494.4(DCST1):c.1081G>C (p.Asp361His)	DCST1 (D336H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789152	NM_152494.4(DCST1):c.1086C>T (p.Tyr362=)	DCST1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2214405	NM_152494.4(DCST1):c.1094G>A (p.Arg365His)	DCST1 (R365H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2461598	NM_152494.4(DCST1):c.1114T>C (p.Trp372Arg)	DCST1 (W372R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468389	NM_152494.4(DCST1):c.1123G>A (p.Gly375Arg)	DCST1 (G375R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405606	NM_152494.4(DCST1):c.1135G>T (p.Val379Leu)	DCST1 (V379L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080592	NM_152494.4(DCST1):c.1175C>T (p.Ser392Phe)	DCST1, DCST1-AS1 (S367F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080593	NM_152494.4(DCST1):c.1192A>G (p.Ser398Gly)	DCST1, DCST1-AS1 (S373G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395263	NM_152494.4(DCST1):c.1252G>A (p.Asp418Asn)	DCST1, DCST1-AS1 (D418N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2383225	NM_152494.4(DCST1):c.1318G>A (p.Val440Ile)	DCST1, DCST1-AS1 (V415I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3271127	NM_152494.4(DCST1):c.1327C>T (p.Pro443Ser)	DCST1, DCST1-AS1 (P418S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2214431	NM_152494.4(DCST1):c.1348G>T (p.Ala450Ser)	DCST1, DCST1-AS1 (A450S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2265992	NM_152494.4(DCST1):c.1369G>A (p.Val457Met)	DCST1, DCST1-AS1 (V457M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613728	NM_152494.4(DCST1):c.1408C>G (p.Leu470Val)	DCST1, DCST1-AS1 (L470V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509643	NM_152494.4(DCST1):c.1431C>G (p.Asp477Glu)	DCST1, DCST1-AS1 (D452E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248306	NM_152494.4(DCST1):c.1453G>C (p.Asp485His)	DCST1, DCST1-AS1 (D460H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080595	NM_152494.4(DCST1):c.1459A>G (p.Ile487Val)	DCST1, DCST1-AS1 (I462V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080596	NM_152494.4(DCST1):c.1553G>A (p.Arg518Gln)	DCST1, DCST1-AS1 (R518Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394034	NM_152494.4(DCST1):c.1613C>T (p.Pro538Leu)	DCST1, DCST1-AS1 (P538L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236648	NM_152494.4(DCST1):c.1764G>T (p.Lys588Asn)	DCST1, DCST1-AS1 (K563N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271126	NM_152494.4(DCST1):c.1847G>A (p.Arg616Gln)	DCST1, DCST1-AS1 (R616Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552611	NM_152494.4(DCST1):c.1856A>G (p.Gln619Arg)	DCST1, DCST1-AS1 (Q594R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507655	NM_152494.4(DCST1):c.1877C>T (p.Pro626Leu)	DCST1, DCST1-AS1 (P601L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3080598	NM_152494.4(DCST1):c.1894C>A (p.His632Asn)	DCST1, DCST1-AS1 (H632N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2227165	NM_152494.4(DCST1):c.1900G>A (p.Gly634Ser)	DCST1, DCST1-AS1 (G634S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2272044	NM_152494.4(DCST1):c.1937G>A (p.Cys646Tyr)	DCST1, DCST1-AS1 (C646Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2493911	NM_152494.4(DCST1):c.1972T>C (p.Tyr658His)	DCST1, DCST1-AS1 (Y633H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2523029	NM_152494.4(DCST1):c.2002G>A (p.Val668Met)	DCST1, DCST1-AS1 (V668M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3271123	NM_152494.4(DCST1):c.2033G>C (p.Arg678Pro)	DCST1, DCST1-AS1 (R653P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2685829	GRCh37/hg19 1q21.3-22(chr1:154684075-155017913)x3	CKS1B, DCST1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	ADAM15, ADAR +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	DPM3, ECM1 +228 more	Duplication	Congenital neutropenia-myelofibrosis-nephromegaly syndrome +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814131	GRCh37/hg19 1q21.3-22(chr1:154898854-155242457)x3	EFNA4, ENTREP3 +23 more	Copy number gain	not provided	GUncertain significance
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 76