ATMIN[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 114

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	LOC128772417, LOC128772418 +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	ACD, ACSF3 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC130059153, LOC130059154 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	AARS1, ACD +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	AARS1, ADAMTS18 +572 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	LOC100129617, LOC100506281 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	ACSF3, ADAD2 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	ADAMTS18, ADAT1 +360 more	Copy number loss	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC400553, LOC654780 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	ACSF3, ADAD2 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	ADAD2, ARLNC1 +447 more	Copy number loss	See cases	GPathogenic
Select item 145976	GRCh38/hg38 16q23.1-23.3(chr16:78790450-83255421)x1	ARLNC1, ATMIN +162 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic
Select item 57099	GRCh38/hg38 16q23.2(chr16:79455147-81109328)x1	ARLNC1, ATMIN +59 more	Copy number loss	See cases	GPathogenic
Select item 2665080	GRCh38/hg38 16q23.2-23.3(chr16:79568000-83552000)	ARLNC1, ATMIN +162 more	Copy number loss	CMIP-related neurodevelopmental disorder	GLikely pathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 60058	GRCh38/hg38 16q23.2(chr16:80975821-81354743)x3	ATMIN, BCO1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 153084	GRCh38/hg38 16q23.2(chr16:81017312-81042801)x3	ATMIN, CENPN +2 more	Copy number gain	See cases	GBenign
Select item 2205232	NM_015251.3(ATMIN):c.8C>G (p.Ala3Gly)	ATMIN, LOC130059492 (A3G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321423	NM_015251.3(ATMIN):c.26C>T (p.Ala9Val)	ATMIN, LOC130059492 (A9V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482853	NM_015251.3(ATMIN):c.29C>A (p.Ala10Glu)	ATMIN, LOC130059492 (A10E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400337	NM_015251.3(ATMIN):c.56C>G (p.Ala19Gly)	ATMIN, LOC130059492 (A19G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319235	NM_015251.3(ATMIN):c.68C>T (p.Pro23Leu)	ATMIN, LOC130059492 (P23L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367766	NM_015251.3(ATMIN):c.71C>T (p.Ala24Val)	ATMIN, LOC130059492 (A24V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2392723	NM_015251.3(ATMIN):c.143G>A (p.Arg48Gln)	ATMIN (R48Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388266	NM_015251.3(ATMIN):c.196G>A (p.Gly66Arg)	ATMIN (G66R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2646892	NM_015251.3(ATMIN):c.261C>T (p.Thr87=)	ATMIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2471186	NM_015251.3(ATMIN):c.295C>T (p.Pro99Ser)	ATMIN, LOC130059493 (P99S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619631	NM_015251.3(ATMIN):c.341G>A (p.Gly114Asp)	ATMIN (G114D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270742	NM_015251.3(ATMIN):c.503G>C (p.Ser168Thr)	ATMIN (S12T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590947	NM_015251.3(ATMIN):c.506A>G (p.Lys169Arg)	ATMIN (K169R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598945	NM_015251.3(ATMIN):c.575G>A (p.Arg192Gln)	ATMIN (R192Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2352232	NM_015251.3(ATMIN):c.643G>A (p.Glu215Lys)	ATMIN (E59K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310580	NM_015251.3(ATMIN):c.665A>T (p.Asp222Val)	ATMIN (D66V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286005	NM_015251.3(ATMIN):c.722A>G (p.Asn241Ser)	ATMIN (N85S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2596351	NM_015251.3(ATMIN):c.901G>C (p.Val301Leu)	ATMIN (V145L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307366	NM_015251.3(ATMIN):c.1123A>C (p.Ile375Leu)	ATMIN (I219L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375333	NM_015251.3(ATMIN):c.1138A>G (p.Ile380Val)	ATMIN (I224V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2345032	NM_015251.3(ATMIN):c.1169A>G (p.Lys390Arg)	ATMIN (K234R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531075	NM_015251.3(ATMIN):c.1194A>T (p.Glu398Asp)	ATMIN (E242D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275967	NM_015251.3(ATMIN):c.1220G>A (p.Ser407Asn)	ATMIN (S407N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613894	NM_015251.3(ATMIN):c.1237G>A (p.Val413Met)	ATMIN (V257M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605317	NM_015251.3(ATMIN):c.1242G>T (p.Gln414His)	ATMIN (Q258H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287051	NM_015251.3(ATMIN):c.1256A>G (p.Tyr419Cys)	ATMIN (Y263C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367220	NM_015251.3(ATMIN):c.1382C>T (p.Thr461Ile)	ATMIN (T461I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556226	NM_015251.3(ATMIN):c.1504A>G (p.Thr502Ala)	ATMIN (T346A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303100	NM_015251.3(ATMIN):c.1538T>A (p.Met513Lys)	ATMIN (M513K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483751	NM_015251.3(ATMIN):c.1560T>G (p.Ser520Arg)	ATMIN (S364R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543566	NM_015251.3(ATMIN):c.1586C>T (p.Thr529Ile)	ATMIN (T529I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372363	NM_015251.3(ATMIN):c.1592A>C (p.Asn531Thr)	ATMIN (N531T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559983	NM_015251.3(ATMIN):c.1666A>T (p.Asn556Tyr)	ATMIN (N400Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545389	NM_015251.3(ATMIN):c.1666A>C (p.Asn556His)	ATMIN (N400H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266910	NM_015251.3(ATMIN):c.1693A>G (p.Ile565Val)	ATMIN (I409V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618344	NM_015251.3(ATMIN):c.1697T>C (p.Ile566Thr)	ATMIN (I566T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406953	NM_015251.3(ATMIN):c.1718G>C (p.Ser573Thr)	ATMIN (S417T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270961	NM_015251.3(ATMIN):c.1903G>T (p.Asp635Tyr)	ATMIN (D635Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307799	NM_015251.3(ATMIN):c.1914C>G (p.Ile638Met)	ATMIN (I638M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227586	NM_015251.3(ATMIN):c.2080T>C (p.Phe694Leu)	ATMIN (F694L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493124	NM_015251.3(ATMIN):c.2149C>T (p.His717Tyr)	ATMIN (H561Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2646893	NM_015251.3(ATMIN):c.2162G>T (p.Gly721Val)	ATMIN (G565V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2287905	NM_015251.3(ATMIN):c.2183G>C (p.Ser728Thr)	ATMIN (S572T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393274	NM_015251.3(ATMIN):c.2219C>G (p.Thr740Ser)	ATMIN (T584S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391295	NM_015251.3(ATMIN):c.2257G>A (p.Ala753Thr)	ATMIN (A753T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519379	NM_015251.3(ATMIN):c.2311G>A (p.Gly771Arg)	ATMIN (G771R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538595	NM_015251.3(ATMIN):c.2368G>C (p.Asp790His)	ATMIN (D634H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404797	NM_015251.3(ATMIN):c.2389C>G (p.Leu797Val)	ATMIN (L641V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553306	NM_015251.3(ATMIN):c.2441C>G (p.Ser814Cys)	ATMIN (S814C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2612147	NM_015251.3(ATMIN):c.2465A>T (p.Asn822Ile)	ATMIN (N822I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063447	GRCh37/hg19 16q23.2(chr16:80986532-81647826)x3	ATMIN, BCO1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 2685579	GRCh37/hg19 16q23.2(chr16:81002550-81217672)x1	ATMIN, C16orf46 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2685578	GRCh37/hg19 16q23.2(chr16:80905025-81177989)x1	ATMIN, C16orf46 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2684821	GRCh37/hg19 16q23.2(chr16:80891387-81346417)x3	ATMIN, BCO1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 1809201	GRCh37/hg19 16q23.2(chr16:80896302-81152918)x1	ATMIN, C16orf46 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	IL17C, ZFHX3 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1526531	GRCh37/hg19 16q23.2(chr16:80976347-81647826)	ATMIN, BCO1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1526530	GRCh37/hg19 16q23.2(chr16:80896301-81140605)	ATMIN, C16orf46 +4 more	Copy number loss	not specified	GUncertain significance
Select item 1526528	GRCh37/hg19 16q23.2(chr16:80228506-81280700)	ATMIN, BCO1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1526526	GRCh37/hg19 16q23.1-23.2(chr16:77960664-81429258)	ATMIN, BCO1 +12 more	Copy number loss	not specified	GUncertain significance
Select item 1340001	GRCh37/hg19 16q23.2(chr16:80896301-81149333)x1	ATMIN, C16orf46 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BCO1, ACSF3 +102 more	Copy number gain	not provided	GPathogenic
Select item 979478	GRCh37/hg19 16q23.2-23.3(chr16:80483625-82044152)x1	ATMIN, BCO1 +11 more	Copy number loss	not provided	GLikely pathogenic
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815850	GRCh37/hg19 16q23.2-23.3(chr16:80476611-82397606)x1	ATMIN, BCO1 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 689307	GRCh37/hg19 16q23.2-24.1(chr16:79254648-84827672)x1	ADAD2, ATMIN +34 more	Copy number loss	not provided	GUncertain significance
Select item 687435	GRCh37/hg19 16q23.2(chr16:80892482-81147086)x1	ATMIN, C16orf46 +4 more	Copy number loss	not provided	GUncertain significance
Select item 685877	GRCh37/hg19 16q23.2(chr16:80892672-81133120)x1	ATMIN, C16orf46 +3 more	Copy number loss	not provided	GUncertain significance
Select item 584186	NC_000016.9:g.(?_80623263)_(81411221_?)del	ATMIN, BCO1 +7 more	Deletion	Giant axonal neuropathy 1	GPathogenic
Select item 564358	GRCh37/hg19 16q23.2(chr16:80959318-81157385)x1	ATMIN, C16orf46 +4 more	Copy number loss	not provided	GUncertain significance
Select item 564357	GRCh37/hg19 16q23.2(chr16:80880360-81100758)x3	CMC2, ATMIN +2 more	Copy number gain	not provided	GUncertain significance
Select item 564356	GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	ACSF3, ADAD2 +103 more	Copy number gain	not provided	GPathogenic
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 560156	Single allele	ATMIN, C16orf46 +6 more	Duplication	not provided	GUncertain significance

<< First< Prev

Page of 2