4589[geneid] - ClinVar

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Search results

Items: 58

	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	BTC, CABS1 +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 147584	GRCh38/hg38 4q13.2-13.3(chr4:68902161-70620273)x3	AMBN, AMTN +38 more	Copy number gain	See cases	GPathogenic
Select item 148864	GRCh38/hg38 4q13.3(chr4:70054775-70478053)x1	CABS1, CSN3 +9 more	Copy number loss	See cases	GUncertain significance
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 2518233	NM_152291.3(MUC7):c.21T>G (p.Phe7Leu)	MUC7 (F7L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3297001	NM_152291.3(MUC7):c.77A>G (p.Asp26Gly)	MUC7 (D26G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274740	NM_152291.3(MUC7):c.106C>G (p.His36Asp)	MUC7 (H36D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258880	NM_152291.3(MUC7):c.145C>T (p.Pro49Ser)	MUC7 (P49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150650	NM_152291.3(MUC7):c.155T>C (p.Leu52Pro)	MUC7 (L52P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3150655	NM_152291.3(MUC7):c.200A>G (p.His67Arg)	MUC7 (H67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305810	NM_152291.3(MUC7):c.205C>A (p.Arg69Ser)	MUC7 (R69S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297003	NM_152291.3(MUC7):c.206G>T (p.Arg69Leu)	MUC7 (R69L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456987	NM_152291.3(MUC7):c.206G>A (p.Arg69His)	MUC7 (R69H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593176	NM_152291.3(MUC7):c.235A>G (p.Asn79Asp)	MUC7 (N79D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654796	NM_152291.3(MUC7):c.246C>G (p.Pro82=)	MUC7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2251840	NM_152291.3(MUC7):c.283G>C (p.Asp95His)	MUC7 (D95H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485330	NM_152291.3(MUC7):c.294C>A (p.Ser98Arg)	MUC7 (S98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297000	NM_152291.3(MUC7):c.301G>A (p.Val101Ile)	MUC7 (V101I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296999	NM_152291.3(MUC7):c.356C>T (p.Ala119Val)	MUC7 (A119V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218963	NM_152291.3(MUC7):c.451G>A (p.Val151Ile)	MUC7 (V151I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150674	NM_152291.3(MUC7):c.548C>T (p.Ser183Leu)	MUC7 (S183L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150678	NM_152291.3(MUC7):c.571G>A (p.Ala191Thr)	MUC7 (A191T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455451	NM_152291.3(MUC7):c.598C>G (p.Gln200Glu)	MUC7 (Q200E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150682	NM_152291.3(MUC7):c.655C>T (p.Pro219Ser)	MUC7 (P219S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 777971	NM_152291.3(MUC7):c.710_778del (p.Ala237_Ala259del)	MUC7	Deletion (inframe_deletion)	not provided	GBenign
Select item 2340885	NM_152291.3(MUC7):c.695C>T (p.Pro232Leu)	MUC7 (P232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405629	NM_152291.3(MUC7):c.868A>G (p.Thr290Ala)	MUC7 (T290A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150695	NM_152291.3(MUC7):c.893C>T (p.Pro298Leu)	MUC7 (P298L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529800	NM_152291.3(MUC7):c.952C>G (p.Leu318Val)	MUC7 (L318V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241769	NM_152291.3(MUC7):c.979G>C (p.Ala327Pro)	MUC7 (A327P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532751	NM_152291.3(MUC7):c.1060A>G (p.Asn354Asp)	MUC7 (N354D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150641	NM_152291.3(MUC7):c.1085A>G (p.Tyr362Cys)	MUC7 (Y362C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296998	NM_152291.3(MUC7):c.1117G>A (p.Asp373Asn)	MUC7 (D373N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375850	NM_152291.3(MUC7):c.1123G>C (p.Val375Leu)	MUC7 (V375L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2685970	GRCh37/hg19 4q13.1-13.3(chr4:63684557-71480358)x3	AMBN, AMTN +38 more	Copy number gain	not provided	GPathogenic
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 2683737	GRCh37/hg19 4q13.3(chr4:71271311-71502766)x1	AMBN, AMTN +4 more	Copy number loss	See cases	GUncertain significance
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 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: 58