ATMIN[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 145976	GRCh38/hg38 16q23.1-23.3(chr16:78790450-83255421)x1	LOC130059528, LOC130059529 +162 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +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	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +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)	not specified	GUncertain significance
Select item 2321423	NM_015251.3(ATMIN):c.26C>T (p.Ala9Val)	ATMIN, LOC130059492 (A9V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482853	NM_015251.3(ATMIN):c.29C>A (p.Ala10Glu)	ATMIN, LOC130059492 (A10E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131098	NM_015251.3(ATMIN):c.47C>T (p.Ala16Val)	ATMIN, LOC130059492 (A16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400337	NM_015251.3(ATMIN):c.56C>G (p.Ala19Gly)	ATMIN, LOC130059492 (A19G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326965	NM_015251.3(ATMIN):c.67C>T (p.Pro23Ser)	LOC130059492, ATMIN (P23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319235	NM_015251.3(ATMIN):c.68C>T (p.Pro23Leu)	ATMIN, LOC130059492 (P23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367766	NM_015251.3(ATMIN):c.71C>T (p.Ala24Val)	ATMIN, LOC130059492 (A24V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2392723	NM_015251.3(ATMIN):c.143G>A (p.Arg48Gln)	ATMIN (R48Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388266	NM_015251.3(ATMIN):c.196G>A (p.Gly66Arg)	ATMIN (G66R)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3131096	NM_015251.3(ATMIN):c.345A>G (p.Ile115Met)	ATMIN (I115M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3131097	NM_015251.3(ATMIN):c.388T>G (p.Phe130Val)	ATMIN (F130V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3131099	NM_015251.3(ATMIN):c.494A>G (p.His165Arg)	ATMIN (H165R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270742	NM_015251.3(ATMIN):c.503G>C (p.Ser168Thr)	ATMIN (S12T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590947	NM_015251.3(ATMIN):c.506A>G (p.Lys169Arg)	ATMIN (K169R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598945	NM_015251.3(ATMIN):c.575G>A (p.Arg192Gln)	ATMIN (R192Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3326934	NM_015251.3(ATMIN):c.583T>G (p.Cys195Gly)	ATMIN (C195G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131100	NM_015251.3(ATMIN):c.583T>C (p.Cys195Arg)	ATMIN (C195R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352232	NM_015251.3(ATMIN):c.643G>A (p.Glu215Lys)	ATMIN (E59K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310580	NM_015251.3(ATMIN):c.665A>T (p.Asp222Val)	ATMIN (D66V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286005	NM_015251.3(ATMIN):c.722A>G (p.Asn241Ser)	ATMIN (N85S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3326976	NM_015251.3(ATMIN):c.740T>C (p.Leu247Ser)	ATMIN (L247S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326955	NM_015251.3(ATMIN):c.899A>T (p.Lys300Ile)	ATMIN (K144I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596351	NM_015251.3(ATMIN):c.901G>C (p.Val301Leu)	ATMIN (V145L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131083	NM_015251.3(ATMIN):c.1033C>T (p.Pro345Ser)	ATMIN (P189S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307366	NM_015251.3(ATMIN):c.1123A>C (p.Ile375Leu)	ATMIN (I219L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375333	NM_015251.3(ATMIN):c.1138A>G (p.Ile380Val)	ATMIN (I224V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3131084	NM_015251.3(ATMIN):c.1145C>T (p.Thr382Ile)	ATMIN (T382I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345032	NM_015251.3(ATMIN):c.1169A>G (p.Lys390Arg)	ATMIN (K234R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531075	NM_015251.3(ATMIN):c.1194A>T (p.Glu398Asp)	ATMIN (E242D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275967	NM_015251.3(ATMIN):c.1220G>A (p.Ser407Asn)	ATMIN (S407N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326902	NM_015251.3(ATMIN):c.1235A>G (p.Asn412Ser)	ATMIN (N256S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613894	NM_015251.3(ATMIN):c.1237G>A (p.Val413Met)	ATMIN (V257M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605317	NM_015251.3(ATMIN):c.1242G>T (p.Gln414His)	ATMIN (Q258H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287051	NM_015251.3(ATMIN):c.1256A>G (p.Tyr419Cys)	ATMIN (Y263C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131085	NM_015251.3(ATMIN):c.1286A>G (p.Gln429Arg)	ATMIN (Q273R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326986	NM_015251.3(ATMIN):c.1321T>A (p.Ser441Thr)	ATMIN (S285T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326995	NM_015251.3(ATMIN):c.1336T>C (p.Ser446Pro)	ATMIN (S446P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326912	NM_015251.3(ATMIN):c.1381A>G (p.Thr461Ala)	ATMIN (T305A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367220	NM_015251.3(ATMIN):c.1382C>T (p.Thr461Ile)	ATMIN (T461I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556226	NM_015251.3(ATMIN):c.1504A>G (p.Thr502Ala)	ATMIN (T346A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303100	NM_015251.3(ATMIN):c.1538T>A (p.Met513Lys)	ATMIN (M513K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483751	NM_015251.3(ATMIN):c.1560T>G (p.Ser520Arg)	ATMIN (S364R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326923	NM_015251.3(ATMIN):c.1574A>G (p.Tyr525Cys)	ATMIN (Y369C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543566	NM_015251.3(ATMIN):c.1586C>T (p.Thr529Ile)	ATMIN (T529I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372363	NM_015251.3(ATMIN):c.1592A>C (p.Asn531Thr)	ATMIN (N531T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131087	NM_015251.3(ATMIN):c.1602C>G (p.Ser534Arg)	ATMIN (S378R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131088	NM_015251.3(ATMIN):c.1615G>A (p.Ala539Thr)	ATMIN (A539T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559983	NM_015251.3(ATMIN):c.1666A>T (p.Asn556Tyr)	ATMIN (N400Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545389	NM_015251.3(ATMIN):c.1666A>C (p.Asn556His)	ATMIN (N400H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266910	NM_015251.3(ATMIN):c.1693A>G (p.Ile565Val)	ATMIN (I409V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618344	NM_015251.3(ATMIN):c.1697T>C (p.Ile566Thr)	ATMIN (I566T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406953	NM_015251.3(ATMIN):c.1718G>C (p.Ser573Thr)	ATMIN (S417T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131089	NM_015251.3(ATMIN):c.1852C>G (p.Pro618Ala)	ATMIN (P462A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270961	NM_015251.3(ATMIN):c.1903G>T (p.Asp635Tyr)	ATMIN (D635Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307799	NM_015251.3(ATMIN):c.1914C>G (p.Ile638Met)	ATMIN (I638M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131091	NM_015251.3(ATMIN):c.2042C>A (p.Thr681Asn)	ATMIN (T525N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131092	NM_015251.3(ATMIN):c.2063G>A (p.Cys688Tyr)	ATMIN (C532Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227586	NM_015251.3(ATMIN):c.2080T>C (p.Phe694Leu)	ATMIN (F694L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493124	NM_015251.3(ATMIN):c.2149C>T (p.His717Tyr)	ATMIN (H561Y +1 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2393274	NM_015251.3(ATMIN):c.2219C>G (p.Thr740Ser)	ATMIN (T584S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326945	NM_015251.3(ATMIN):c.2249A>G (p.Asn750Ser)	ATMIN (N750S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391295	NM_015251.3(ATMIN):c.2257G>A (p.Ala753Thr)	ATMIN (A753T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519379	NM_015251.3(ATMIN):c.2311G>A (p.Gly771Arg)	ATMIN (G771R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538595	NM_015251.3(ATMIN):c.2368G>C (p.Asp790His)	ATMIN (D634H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404797	NM_015251.3(ATMIN):c.2389C>G (p.Leu797Val)	ATMIN (L641V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553306	NM_015251.3(ATMIN):c.2441C>G (p.Ser814Cys)	ATMIN (S814C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3131094	NM_015251.3(ATMIN):c.2450C>A (p.Pro817Gln)	ATMIN (P817Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612147	NM_015251.3(ATMIN):c.2465A>T (p.Asn822Ile)	ATMIN (N822I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131095	NM_015251.3(ATMIN):c.2466C>A (p.Asn822Lys)	ATMIN (N666K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243515	NC_000016.9:g.(?_78420737)_(81991603_?)del	ATMIN, BCO1 +12 more	Deletion	Autosomal recessive spinocerebellar ataxia 12 +1 more	GPathogenic

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