26562[HGNC] - ClinVar

Search results

Items: 98

	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 2236649	NM_144622.3(DCST2):c.2255C>T (p.Ala752Val)	DCST2 (A752V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513033	NM_144622.3(DCST2):c.2141A>G (p.Lys714Arg)	DCST2 (K714R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404084	NM_144622.3(DCST2):c.2125G>C (p.Gly709Arg)	DCST2 (G709R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457067	NM_144622.3(DCST2):c.2116G>A (p.Glu706Lys)	DCST2 (E706K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462453	NM_144622.3(DCST2):c.2098G>A (p.Glu700Lys)	DCST2 (E700K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405082	NM_144622.3(DCST2):c.2068G>A (p.Gly690Ser)	DCST2 (G690S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488760	NM_144622.3(DCST2):c.2003C>T (p.Ala668Val)	DCST2 (A668V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342947	NM_144622.3(DCST2):c.1955A>C (p.Asp652Ala)	DCST2 (D652A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599116	NM_144622.3(DCST2):c.1946G>A (p.Gly649Glu)	DCST2 (G649E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234785	NM_144622.3(DCST2):c.1942C>G (p.Gln648Glu)	DCST2 (Q648E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080611	NM_144622.3(DCST2):c.1908T>A (p.Asn636Lys)	DCST2 (N636K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080610	NM_144622.3(DCST2):c.1765G>T (p.Val589Phe)	DCST2 (V589F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407071	NM_144622.3(DCST2):c.1741C>T (p.Arg581Trp)	DCST2 (R581W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080609	NM_144622.3(DCST2):c.1709G>A (p.Gly570Asp)	DCST2 (G570D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246532	NM_144622.3(DCST2):c.1694G>A (p.Arg565Gln)	DCST2 (R565Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329663	NM_144622.3(DCST2):c.1693C>T (p.Arg565Trp)	DCST2 (R565W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271140	NM_144622.3(DCST2):c.1690C>T (p.Arg564Trp)	DCST2 (R564W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271136	NM_144622.3(DCST2):c.1648C>T (p.Arg550Cys)	DCST2 (R550C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080608	NM_144622.3(DCST2):c.1622C>T (p.Ser541Phe)	DCST2 (S541F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317437	NM_144622.3(DCST2):c.1610A>G (p.Gln537Arg)	DCST2 (Q537R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406503	NM_144622.3(DCST2):c.1604G>A (p.Arg535Gln)	DCST2 (R535Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343188	NM_144622.3(DCST2):c.1603C>T (p.Arg535Trp)	DCST2 (R535W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601918	NM_144622.3(DCST2):c.1574G>A (p.Arg525Gln)	DCST2 (R525Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300619	NM_144622.3(DCST2):c.1564C>T (p.Arg522Trp)	DCST2 (R522W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080606	NM_144622.3(DCST2):c.1561A>G (p.Ser521Gly)	DCST2 (S521G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522623	NM_144622.3(DCST2):c.1547T>C (p.Phe516Ser)	DCST2 (F516S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080605	NM_144622.3(DCST2):c.1520A>G (p.Tyr507Cys)	DCST2 (Y507C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271135	NM_144622.3(DCST2):c.1501A>G (p.Ile501Val)	DCST2 (I501V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297657	NM_144622.3(DCST2):c.1498T>C (p.Tyr500His)	DCST2 (Y500H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507505	NM_144622.3(DCST2):c.1478C>T (p.Ser493Leu)	DCST2 (S493L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357926	NM_144622.3(DCST2):c.1471C>A (p.Arg491Ser)	DCST2 (R491S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080604	NM_144622.3(DCST2):c.1460G>A (p.Arg487His)	DCST2 (R487H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271134	NM_144622.3(DCST2):c.1457G>A (p.Arg486Gln)	DCST2 (R486Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214982	NM_144622.3(DCST2):c.1418T>C (p.Phe473Ser)	DCST2 (F473S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313399	NM_144622.3(DCST2):c.1400G>A (p.Arg467His)	DCST2 (R467H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639390	NM_144622.3(DCST2):c.1383C>T (p.Tyr461=)	DCST2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2396094	NM_144622.3(DCST2):c.1345C>G (p.Pro449Ala)	DCST2 (P449A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542594	NM_144622.3(DCST2):c.1323G>C (p.Gln441His)	DCST2 (Q441H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370774	NM_144622.3(DCST2):c.1280A>G (p.Tyr427Cys)	DCST2 (Y427C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325601	NM_144622.3(DCST2):c.1255G>A (p.Val419Met)	DCST2 (V419M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404711	NM_144622.3(DCST2):c.1222G>A (p.Glu408Lys)	DCST2 (E408K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378307	NM_144622.3(DCST2):c.1163G>A (p.Arg388His)	DCST2 (R388H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2639391	NM_144622.3(DCST2):c.1152C>T (p.His384=)	DCST2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3271130	NM_144622.3(DCST2):c.1127C>T (p.Pro376Leu)	DCST2 (P376L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460951	NM_144622.3(DCST2):c.1093C>T (p.Arg365Cys)	DCST2 (R365C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271131	NM_144622.3(DCST2):c.1037A>G (p.Tyr346Cys)	DCST2 (Y346C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271132	NM_144622.3(DCST2):c.1034G>A (p.Arg345Gln)	DCST2 (R345Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310588	NM_144622.3(DCST2):c.1012T>C (p.Tyr338His)	DCST2 (Y338H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304963	NM_144622.3(DCST2):c.1006C>T (p.Leu336Phe)	DCST2 (L336F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3271142	NM_144622.3(DCST2):c.968T>G (p.Leu323Arg)	DCST2 (L323R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080623	NM_144622.3(DCST2):c.959G>A (p.Arg320Gln)	DCST2 (R320Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080622	NM_144622.3(DCST2):c.910G>A (p.Val304Ile)	DCST2 (V304I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271137	NM_144622.3(DCST2):c.895C>T (p.Arg299Trp)	DCST2 (R299W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080621	NM_144622.3(DCST2):c.887A>G (p.Asn296Ser)	DCST2 (N296S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271141	NM_144622.3(DCST2):c.829G>A (p.Val277Met)	DCST2 (V277M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271138	NM_144622.3(DCST2):c.827G>A (p.Arg276Gln)	DCST2 (R276Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080620	NM_144622.3(DCST2):c.826C>T (p.Arg276Trp)	DCST2 (R276W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246191	NM_144622.3(DCST2):c.808G>A (p.Val270Met)	DCST2 (V270M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271139	NM_144622.3(DCST2):c.800G>A (p.Gly267Asp)	DCST2 (G267D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080619	NM_144622.3(DCST2):c.749T>G (p.Val250Gly)	DCST2 (V250G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080618	NM_144622.3(DCST2):c.742G>A (p.Val248Ile)	DCST2 (V248I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375306	NM_144622.3(DCST2):c.661A>G (p.Met221Val)	DCST2 (M221V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080617	NM_144622.3(DCST2):c.599C>T (p.Ser200Leu)	DCST2 (S200L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371929	NM_144622.3(DCST2):c.586G>A (p.Asp196Asn)	DCST2 (D196N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369062	NM_144622.3(DCST2):c.550C>T (p.Leu184Phe)	DCST2 (L184F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537598	NM_144622.3(DCST2):c.475A>T (p.Thr159Ser)	DCST2 (T159S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566031	NM_144622.3(DCST2):c.470G>A (p.Arg157Gln)	DCST2 (R157Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3080615	NM_144622.3(DCST2):c.431C>G (p.Pro144Arg)	DCST2 (P144R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080614	NM_144622.3(DCST2):c.421G>A (p.Ala141Thr)	DCST2 (A141T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516168	NM_144622.3(DCST2):c.401C>T (p.Thr134Ile)	DCST2 (T134I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080613	NM_144622.3(DCST2):c.394A>G (p.Asn132Asp)	DCST2 (N132D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310589	NM_144622.3(DCST2):c.367G>A (p.Val123Ile)	DCST2 (V123I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080612	NM_144622.3(DCST2):c.291G>T (p.Leu97Phe)	DCST2 (L97F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317388	NM_144622.3(DCST2):c.223C>G (p.Gln75Glu)	DCST2 (Q75E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279909	NM_144622.3(DCST2):c.221G>A (p.Arg74His)	DCST2 (R74H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329016	NM_144622.3(DCST2):c.218C>T (p.Ser73Phe)	DCST2 (S73F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338969	NM_144622.3(DCST2):c.206G>A (p.Gly69Asp)	DCST2 (G69D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521366	NM_144622.3(DCST2):c.170T>C (p.Val57Ala)	DCST2 (V57A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339091	NM_144622.3(DCST2):c.90T>G (p.Phe30Leu)	DCST2 (F30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492741	NM_144622.3(DCST2):c.73C>T (p.Arg25Cys)	DCST2 (R25C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080607	NM_144622.3(DCST2):c.15G>A (p.Met5Ile)	DCST2 (M5I)	Single nucleotide variant (missense variant)	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: 98