220[HGNC] - ClinVar

Search results

Items: 90

	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 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 639872	NC_000001.10:g.(?_160786670)_(161332233_?)dup	ADAMTS4, APOA2 +63 more	Duplication	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 57815	GRCh38/hg38 1q23.3(chr1:160866658-161315114)x3	ADAMTS4, APOA2 +58 more	Copy number gain	See cases	GUncertain significance
Select item 769539	NM_005099.6(ADAMTS4):c.*56A>G	ADAMTS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2590884	NM_005099.6(ADAMTS4):c.2501C>G (p.Ala834Gly)	ADAMTS4 (A834G)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2214863	NM_005099.6(ADAMTS4):c.2492G>T (p.Arg831Leu)	ADAMTS4 (R831L)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2456409	NM_005099.6(ADAMTS4):c.2491C>T (p.Arg831Cys)	ADAMTS4 (A777V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367190	NM_005099.6(ADAMTS4):c.2488C>T (p.Arg830Trp)	ADAMTS4 (A776V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077446	NM_005099.6(ADAMTS4):c.2453T>C (p.Leu818Pro)	ADAMTS4 (L818P)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2530115	NM_005099.6(ADAMTS4):c.2440C>T (p.Pro814Ser)	ADAMTS4 (P814S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077438	NM_005099.6(ADAMTS4):c.2404G>A (p.Val802Met)	ADAMTS4 (V802M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492779	NM_005099.6(ADAMTS4):c.2356C>G (p.Leu786Val)	ADAMTS4 (P732R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593735	NM_005099.6(ADAMTS4):c.2278C>T (p.Arg760Cys)	ADAMTS4 (R760C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077424	NM_005099.6(ADAMTS4):c.2272A>G (p.Ser758Gly)	ADAMTS4 (Q704R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077415	NM_005099.6(ADAMTS4):c.2168G>A (p.Arg723Gln)	ADAMTS4 (R723Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529782	NM_005099.6(ADAMTS4):c.2167C>T (p.Arg723Trp)	ADAMTS4 (R723W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465471	NM_005099.6(ADAMTS4):c.2156A>G (p.Asn719Ser)	ADAMTS4 (N719S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077405	NM_005099.6(ADAMTS4):c.2151G>T (p.Gln717His)	ADAMTS4 (Q717H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267543	NM_005099.6(ADAMTS4):c.2036G>A (p.Gly679Glu)	ADAMTS4 (G679E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077394	NM_005099.6(ADAMTS4):c.1993A>G (p.Ile665Val)	ADAMTS4 (I665V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077391	NM_005099.6(ADAMTS4):c.1991G>A (p.Arg664His)	ADAMTS4 (R664H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077388	NM_005099.6(ADAMTS4):c.1910G>A (p.Arg637Gln)	ADAMTS4 (R637Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077384	NM_005099.6(ADAMTS4):c.1831A>C (p.Thr611Pro)	ADAMTS4 (T611P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077380	NM_005099.6(ADAMTS4):c.1826G>A (p.Arg609His)	ADAMTS4 (R609H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588156	NM_005099.6(ADAMTS4):c.1750G>A (p.Glu584Lys)	ADAMTS4 (E584K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455693	NM_005099.6(ADAMTS4):c.1709A>G (p.Asn570Ser)	ADAMTS4 (N570S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077365	NM_005099.6(ADAMTS4):c.1688G>A (p.Arg563His)	ADAMTS4 (R563H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531907	NM_005099.6(ADAMTS4):c.1684C>T (p.Arg562Cys)	ADAMTS4 (R562C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077358	NM_005099.6(ADAMTS4):c.1616G>A (p.Gly539Asp)	ADAMTS4 (G539D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369329	NM_005099.6(ADAMTS4):c.1519C>T (p.Leu507Phe)	ADAMTS4 (L507F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077355	NM_005099.6(ADAMTS4):c.1504A>G (p.Met502Val)	ADAMTS4 (M502V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553877	NM_005099.6(ADAMTS4):c.1492G>A (p.Ala498Thr)	ADAMTS4 (A498T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267561	NM_005099.6(ADAMTS4):c.1366G>A (p.Asp456Asn)	ADAMTS4 (D456N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310245	NM_005099.6(ADAMTS4):c.1360G>A (p.Gly454Arg)	ADAMTS4 (G454R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514292	NM_005099.6(ADAMTS4):c.1340G>T (p.Arg447Leu)	ADAMTS4 (R447L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267523	NM_005099.6(ADAMTS4):c.1288G>A (p.Ala430Thr)	ADAMTS4 (A430T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223143	NM_005099.6(ADAMTS4):c.1253A>G (p.Asn418Ser)	ADAMTS4 (N418S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077345	NM_005099.6(ADAMTS4):c.1228C>T (p.Arg410Cys)	ADAMTS4 (R410C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282154	NM_005099.6(ADAMTS4):c.1217C>T (p.Pro406Leu)	ADAMTS4 (P406L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475097	NM_005099.6(ADAMTS4):c.1193T>G (p.Val398Gly)	ADAMTS4 (V398G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267501	NM_005099.6(ADAMTS4):c.1189C>T (p.His397Tyr)	ADAMTS4 (H397Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077339	NM_005099.6(ADAMTS4):c.1163G>A (p.Arg388His)	ADAMTS4 (R388H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302797	NM_005099.6(ADAMTS4):c.1022C>T (p.Pro341Leu)	ADAMTS4 (P341L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317090	NM_005099.6(ADAMTS4):c.922G>C (p.Asp308His)	ADAMTS4 (D308H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484615	NM_005099.6(ADAMTS4):c.904C>T (p.Pro302Ser)	ADAMTS4 (P302S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077504	NM_005099.6(ADAMTS4):c.869G>A (p.Arg290His)	ADAMTS4 (R290H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077501	NM_005099.6(ADAMTS4):c.857C>T (p.Ala286Val)	ADAMTS4 (A286V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323650	NM_005099.6(ADAMTS4):c.760A>G (p.Lys254Glu)	ADAMTS4 (K254E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324341	NM_005099.6(ADAMTS4):c.718C>T (p.Arg240Cys)	ADAMTS4 (R240C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588635	NM_005099.6(ADAMTS4):c.707C>T (p.Ala236Val)	ADAMTS4 (A236V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077487	NM_005099.6(ADAMTS4):c.634C>T (p.Arg212Cys)	ADAMTS4 (R212C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077485	NM_005099.6(ADAMTS4):c.625A>G (p.Arg209Gly)	ADAMTS4, NDUFS2 (R209G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267553	NM_005099.6(ADAMTS4):c.551A>G (p.Lys184Arg)	ADAMTS4, NDUFS2 (K184R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279296	NM_005099.6(ADAMTS4):c.548G>A (p.Arg183Gln)	ADAMTS4, NDUFS2 (R183Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537579	NM_005099.6(ADAMTS4):c.545G>A (p.Arg182His)	ADAMTS4, NDUFS2 (R182H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598261	NM_005099.6(ADAMTS4):c.527C>G (p.Pro176Arg)	ADAMTS4, NDUFS2 (P176R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307086	NM_005099.6(ADAMTS4):c.376A>G (p.Thr126Ala)	ADAMTS4, NDUFS2 (T126A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267534	NM_005099.6(ADAMTS4):c.344C>T (p.Ala115Val)	ADAMTS4, NDUFS2 (A115V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077466	NM_005099.6(ADAMTS4):c.301G>A (p.Gly101Ser)	ADAMTS4, NDUFS2 (G101S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024829	NM_005099.6(ADAMTS4):c.298T>C (p.Ser100Pro)	NDUFS2, ADAMTS4 (S100P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2512660	NM_005099.6(ADAMTS4):c.272C>T (p.Thr91Met)	ADAMTS4, NDUFS2 (T91M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353295	NM_005099.6(ADAMTS4):c.251G>A (p.Arg84His)	ADAMTS4, NDUFS2 (R84H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077431	NM_005099.6(ADAMTS4):c.227G>A (p.Gly76Asp)	ADAMTS4, NDUFS2 (G76D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077421	NM_005099.6(ADAMTS4):c.221G>A (p.Gly74Asp)	ADAMTS4, NDUFS2 (G74D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267512	NM_005099.6(ADAMTS4):c.211G>A (p.Val71Ile)	ADAMTS4, NDUFS2 (V71I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2523435	NM_005099.6(ADAMTS4):c.205G>A (p.Gly69Ser)	ADAMTS4, NDUFS2 (G69S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257408	NM_005099.6(ADAMTS4):c.184G>A (p.Val62Met)	ADAMTS4, NDUFS2 (V62M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267568	NM_005099.6(ADAMTS4):c.183C>G (p.Ile61Met)	ADAMTS4, NDUFS2 (I61M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267578	NM_005099.6(ADAMTS4):c.76C>A (p.Leu26Ile)	ADAMTS4, NDUFS2 (L26I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077476	NM_005099.6(ADAMTS4):c.43C>T (p.Arg15Cys)	ADAMTS4, NDUFS2 (R15C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2605864	NM_005099.6(ADAMTS4):c.41G>A (p.Gly14Glu)	ADAMTS4, NDUFS2 (G14E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374200	NM_005099.6(ADAMTS4):c.25G>A (p.Gly9Arg)	ADAMTS4, NDUFS2 (G9R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2299180	NM_005099.6(ADAMTS4):c.20A>G (p.His7Arg)	ADAMTS4, NDUFS2 (H7R)	Single nucleotide variant (missense variant +1 more)	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 1809367	GRCh37/hg19 1q23.3(chr1:160778879-161190622)x3	ADAMTS4, ARHGAP30 +18 more	Copy number gain	not provided	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	ACKR1, ADAMTS4 +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1341040	GRCh37/hg19 1q23.3(chr1:160859558-161409185)x3	ADAMTS4, APOA2 +22 more	Copy number gain	not provided	GLikely pathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 830661	NC_000001.11:g.(?_160816880)_(161362518_?)dup	ADAMTS4, APOA2 +24 more	Duplication	Paragangliomas 3 +1 more	GUncertain significance
Select item 814134	GRCh37/hg19 1q23.3(chr1:161134675-161652307)x3	ADAMTS4, APOA2 +17 more	Copy number gain	not provided	GUncertain significance
Select item 814133	GRCh37/hg19 1q23.3(chr1:160977795-161189147)x3	KLHDC9, PFDN2 +14 more	Copy number gain	not provided	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 687408	GRCh37/hg19 1q23.3(chr1:161134612-161422225)x3	ADAMTS4, APOA2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
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: 90