24477[HGNC] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 59451	GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1	LOC129992665, LOC129992666 +103 more	Copy number loss	See cases	GPathogenic
Select item 57091	GRCh38/hg38 4q13.2-13.3(chr4:66842408-70831557)x1	AMBN, AMTN +76 more	Copy number loss	See cases	GPathogenic
Select item 148549	GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1	ADAMTS3, AFM +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	LOC129992745, LOC129992746 +330 more	Deletion	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 57860	GRCh38/hg38 4q13.3(chr4:70072741-71612174)x3	AMBN, AMTN +30 more	Copy number gain	See cases	GUncertain significance
Select item 155363	GRCh38/hg38 4q13.3(chr4:70204468-71204531)x3	AMBN, AMTN +26 more	Copy number gain	See cases	GUncertain significance
Select item 57861	GRCh38/hg38 4q13.3(chr4:70675977-72158855)x3	DCK, GC +23 more	Copy number gain	See cases	GUncertain significance
Select item 789999	NM_020368.3(UTP3):c.68C>T (p.Thr23Met)	UTP3 (T23M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 790000	NM_020368.3(UTP3):c.84T>C (p.Asn28=)	UTP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2478108	NM_020368.3(UTP3):c.164G>A (p.Arg55Gln)	UTP3 (R55Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411343	NM_020368.3(UTP3):c.180A>T (p.Leu60Phe)	UTP3 (L60F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187998	NM_020368.3(UTP3):c.360G>C (p.Glu120Asp)	UTP3 (E120D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369618	NM_020368.3(UTP3):c.659G>A (p.Arg220Gln)	UTP3 (R220Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385229	NM_020368.3(UTP3):c.676C>T (p.Leu226Phe)	UTP3 (L226F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369957	NM_020368.3(UTP3):c.713C>T (p.Thr238Ile)	UTP3 (T238I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511609	NM_020368.3(UTP3):c.718G>A (p.Val240Ile)	UTP3 (V240I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331759	NM_020368.3(UTP3):c.811C>T (p.Leu271Phe)	UTP3 (L271F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187999	NM_020368.3(UTP3):c.844T>C (p.Tyr282His)	UTP3 (Y282H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188000	NM_020368.3(UTP3):c.922A>T (p.Ile308Phe)	UTP3 (I308F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188001	NM_020368.3(UTP3):c.977T>C (p.Leu326Ser)	UTP3 (L326S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514752	NM_020368.3(UTP3):c.1037C>T (p.Pro346Leu)	UTP3 (P346L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243821	NM_020368.3(UTP3):c.1067C>G (p.Ala356Gly)	UTP3 (A356G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782092	NM_020368.3(UTP3):c.1113T>A (p.Asp371Glu)	UTP3 (D371E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3331758	NM_020368.3(UTP3):c.1201G>A (p.Ala401Thr)	UTP3 (A401T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492629	NM_020368.3(UTP3):c.1234A>G (p.Thr412Ala)	UTP3 (T412A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187994	NM_020368.3(UTP3):c.1280A>C (p.Lys427Thr)	UTP3 (K427T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608159	NM_020368.3(UTP3):c.1360G>T (p.Val454Phe)	UTP3 (V454F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187995	NM_020368.3(UTP3):c.1364G>A (p.Arg455His)	UTP3 (R455H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187996	NM_020368.3(UTP3):c.1406G>A (p.Arg469His)	UTP3 (R469H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331760	NM_020368.3(UTP3):c.1421A>G (p.Lys474Arg)	UTP3 (K474R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062769	GRCh37/hg19 4q13.3(chr4:71132998-72479262)x3	AMBN, AMTN +13 more	Copy number gain	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685972	GRCh37/hg19 4q13.3(chr4:71388666-72250823)x3	GRSF1, AMBN +8 more	Copy number gain	not provided	GUncertain significance
Select item 2685115	GRCh37/hg19 4q13.3(chr4:71547866-71636209)x1	RUFY3, UTP3	Copy number loss	not provided	GUncertain significance
Select item 2685114	GRCh37/hg19 4q13.2-13.3(chr4:69146217-75500577)x1	ADAMTS3, AFM +58 more	Copy number loss	not provided	GPathogenic
Select item 2685109	GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1	ADGRL3, AMBN +52 more	Copy number loss	not provided	GPathogenic
Select item 1527090	GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517)	ADAMTS3, ADGRL3 +58 more	Copy number loss	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 814565	GRCh37/hg19 4q13.3(chr4:71193683-71591539)x3	OPRPN, ENAM +9 more	Copy number gain	not provided	GUncertain significance
Select item 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 688874	GRCh37/hg19 4q13.3(chr4:70929700-72479262)x3	AMBN, AMTN +17 more	Copy number gain	not provided	GUncertain significance
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 562920	GRCh37/hg19 4q13.1-13.3(chr4:64705501-73469716)x3	ADAMTS3, AMBN +49 more	Copy number gain	not provided	GPathogenic
Select item 443262	GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1	ADAMTS3, AFM +75 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

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Items: 51