AMTN[gene] - ClinVar

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Items: 45

	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, LOC116158492 +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	FDCSP, FGF5 +330 more	Deletion	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992716, LOC129992717 +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 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 3059340	NM_212557.4(AMTN):c.-7C>T	AMTN	Single nucleotide variant (5 prime UTR variant)	AMTN-related condition	GBenign
Select item 2357282	NM_212557.4(AMTN):c.11C>T (p.Thr4Met)	AMTN (T4M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3058967	NM_212557.4(AMTN):c.43C>T (p.Arg15Trp)	AMTN (R15W)	Single nucleotide variant (missense variant)	AMTN-related condition	GBenign
Select item 431413	NM_212557.4(AMTN):c.54+1348_330+98delinsCTCA	AMTN	Indel (splice acceptor variant +1 more)	Amelogenesis imperfecta type 3B	GPathogenic
Select item 2351379	NM_212557.4(AMTN):c.73G>A (p.Gly25Arg)	AMTN (G24R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042027	NM_212557.4(AMTN):c.148T>C (p.Ser50Pro)	AMTN (S49P +1 more)	Single nucleotide variant (missense variant)	AMTN-related condition	GBenign
Select item 3041073	NM_212557.4(AMTN):c.205-7C>T	AMTN	Single nucleotide variant (intron variant)	AMTN-related condition	GBenign
Select item 2275519	NM_212557.4(AMTN):c.244C>A (p.His82Asn)	AMTN (H81N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531681	NM_212557.4(AMTN):c.251T>G (p.Leu84Trp)	AMTN (L83W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046216	NM_212557.4(AMTN):c.263G>A (p.Gly88Glu)	AMTN (G87E +1 more)	Single nucleotide variant (missense variant)	AMTN-related condition	GLikely benign
Select item 2555226	NM_212557.4(AMTN):c.288C>A (p.His96Gln)	AMTN (H95Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2570356	NM_212557.4(AMTN):c.292C>T (p.His98Tyr)	AMTN (H98Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333069	NM_212557.4(AMTN):c.463G>A (p.Ala155Thr)	AMTN (A154T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780464	NM_212557.4(AMTN):c.530G>T (p.Gly177Val)	AMTN (G176V +1 more)	Single nucleotide variant (missense variant)	AMTN-related condition +1 more	GBenign
Select item 2219597	NM_212557.4(AMTN):c.562G>T (p.Ala188Ser)	AMTN (A187S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394449	NM_212557.4(AMTN):c.578G>A (p.Ser193Asn)	AMTN (S192N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537214	NM_212557.4(AMTN):c.581C>A (p.Thr194Lys)	AMTN (T194K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	TMA16, CXCL1 +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 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	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic

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Items: 45