452[HGNC] - ClinVar

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Items: 85

	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	PARM1-AS1, PCAT4 +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 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 2445235	NM_016519.6(AMBN):c.15+1G>A	AMBN	Single nucleotide variant (splice donor variant)	Amelogenesis imperfecta type 1F	GUncertain significance
Select item 2501302	NM_016519.6(AMBN):c.76G>A (p.Ala26Thr)	AMBN (A26T)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta type 1F	GLikely pathogenic
Select item 3292302	NM_016519.6(AMBN):c.90T>A (p.Phe30Leu)	AMBN (F30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737428	NM_016519.6(AMBN):c.114T>C (p.Gly38=)	AMBN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3292291	NM_016519.6(AMBN):c.144A>C (p.Arg48Ser)	AMBN (R48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267120	NM_016519.6(AMBN):c.147G>C (p.Gln49His)	AMBN (Q49H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465234	NM_016519.6(AMBN):c.202G>A (p.Gly68Arg)	AMBN (G68R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1702585	NM_016519.6(AMBN):c.209C>G (p.Ser70Ter)	AMBN (S70*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta type 1F +1 more	GUncertain significance
Select item 715973	NM_016519.6(AMBN):c.228G>T (p.Met76Ile)	AMBN (M76I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3053002	NM_016519.6(AMBN):c.233G>T (p.Gly78Val)	AMBN (G78V)	Single nucleotide variant (missense variant)	AMBN-related disorder	GBenign
Select item 1025625	NM_016519.6(AMBN):c.281A>G (p.His94Arg)	AMBN (H94R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 183689	NM_016519.6(AMBN):c.294+140_531+479del	AMBN	Deletion (splice acceptor variant +1 more)	Amelogenesis imperfecta type 1F	GPathogenic
Select item 2575130	NM_016519.6(AMBN):c.295-2A>C	AMBN	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2233469	NM_016519.6(AMBN):c.295T>C (p.Tyr99His)	AMBN (Y99H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489456	NM_016519.6(AMBN):c.488T>A (p.Val163Asp)	AMBN (V163D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282540	NM_016519.6(AMBN):c.529G>A (p.Glu177Lys)	AMBN (E177K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050454	NM_016519.6(AMBN):c.532-9G>C	AMBN	Single nucleotide variant (intron variant)	AMBN-related disorder	GLikely benign
Select item 372171	NM_016519.6(AMBN):c.532-1G>C	AMBN	Single nucleotide variant (splice acceptor variant)	Amelogenesis imperfecta type 1F	GPathogenic
Select item 3056626	NM_016519.6(AMBN):c.539_541del (p.Gly180del)	AMBN (G180del)	Deletion	AMBN-related disorder	GBenign
Select item 2501301	NM_016519.6(AMBN):c.539dup (p.Val181fs)	AMBN (V181fs)	Duplication (frameshift variant)	Amelogenesis imperfecta type 1F	GPathogenic
Select item 770153	NM_016519.6(AMBN):c.542T>C (p.Val181Ala)	AMBN (V181A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3114612	NM_016519.6(AMBN):c.546T>A (p.Asp182Glu)	AMBN (D182E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114615	NM_016519.6(AMBN):c.548T>C (p.Phe183Ser)	AMBN (F183S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601335	NM_016519.6(AMBN):c.550G>C (p.Ala184Pro)	AMBN (A184P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737464	NM_016519.6(AMBN):c.570+9A>T	AMBN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2444856	NM_016519.6(AMBN):c.571-1G>C	AMBN	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2445418	NM_016519.6(AMBN):c.577G>T (p.Gly193Ter)	AMBN (G193*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta type 1F	GUncertain significance
Select item 3114620	NM_016519.6(AMBN):c.578G>A (p.Gly193Glu)	AMBN (G193E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349954	NM_016519.6(AMBN):c.601G>A (p.Gly201Ser)	AMBN (G201S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059460	NM_016519.6(AMBN):c.657A>G (p.Gln219=)	AMBN	Single nucleotide variant (synonymous variant)	AMBN-related disorder	GBenign
Select item 2383207	NM_016519.6(AMBN):c.665G>A (p.Arg222His)	AMBN (R222H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1317439	NM_016519.6(AMBN):c.715C>T (p.Pro239Ser)	AMBN (P239S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2225245	NM_016519.6(AMBN):c.725T>C (p.Leu242Ser)	AMBN (L242S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3356356	NM_016519.6(AMBN):c.730G>A (p.Val244Met)	AMBN (V244M)	Single nucleotide variant (missense variant)	AMBN-related disorder	GBenign
Select item 3053528	NM_016519.6(AMBN):c.753+3A>G	AMBN	Single nucleotide variant (intron variant)	AMBN-related disorder	GLikely benign
Select item 3056421	NM_016519.6(AMBN):c.764C>T (p.Ala255Val)	AMBN (A255V)	Single nucleotide variant (missense variant)	AMBN-related disorder	GBenign
Select item 790785	NM_016519.6(AMBN):c.802G>A (p.Gly268Arg)	AMBN (G268R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3114633	NM_016519.6(AMBN):c.838C>T (p.Pro280Ser)	AMBN (P280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715224	NM_016519.6(AMBN):c.861C>T (p.Pro287=)	AMBN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 780465	NM_016519.6(AMBN):c.882C>A (p.His294Gln)	AMBN (H294Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2307268	NM_016519.6(AMBN):c.922T>C (p.Ser308Pro)	AMBN (S308P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531274	NM_016519.6(AMBN):c.944G>A (p.Gly315Asp)	AMBN (G315D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738037	NM_016519.6(AMBN):c.950A>C (p.Glu317Ala)	AMBN (E317A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2609846	NM_016519.6(AMBN):c.1034T>G (p.Leu345Arg)	AMBN (L345R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1275989	NM_016519.6(AMBN):c.1061T>C (p.Leu354Pro)	AMBN (L354P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 714243	NM_016519.6(AMBN):c.1074G>A (p.Lys358=)	AMBN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2479416	NM_016519.6(AMBN):c.1114A>G (p.Met372Val)	AMBN (M372V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736859	NM_016519.6(AMBN):c.1131C>T (p.Ser377=)	AMBN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775984	NM_016519.6(AMBN):c.1132G>A (p.Val378Ile)	AMBN (V378I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2350449	NM_016519.6(AMBN):c.1159A>G (p.Met387Val)	AMBN (M387V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114598	NM_016519.6(AMBN):c.1174G>C (p.Ala392Pro)	AMBN (A392P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654797	NM_016519.6(AMBN):c.1305C>T (p.Pro435=)	AMBN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3059474	NM_016519.6(AMBN):c.1323A>G (p.Ala441=)	AMBN	Single nucleotide variant (synonymous variant)	AMBN-related disorder	GBenign
Select item 2529849	NM_016519.6(AMBN):c.1324T>C (p.Trp442Arg)	AMBN (W442R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1315999	NM_016519.6(AMBN):c.1325G>A (p.Trp442Ter)	AMBN (W442*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3340822	NM_016519.6(AMBN):c.1340C>T (p.Pro447Leu)	AMBN (P447L)	Single nucleotide variant (missense variant)	not provided	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 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 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: 85