ClinVar for Gene (Select 26033) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3392107	GRCh37/hg19 10q25.3(chr10:115478883-117638513)x3	ABLIM1, ADRB1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 3332690	NM_207303.4(ATRNL1):c.247C>T (p.Pro83Ser)	ATRNL1 (P83S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332679	NM_207303.4(ATRNL1):c.3260A>G (p.Gln1087Arg)	ATRNL1 (Q1087R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332668	NM_207303.4(ATRNL1):c.3166C>G (p.Gln1056Glu)	ATRNL1 (Q1056E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332657	NM_207303.4(ATRNL1):c.1675G>T (p.Ala559Ser)	ATRNL1 (A559S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332647	NM_207303.4(ATRNL1):c.1031A>G (p.Asn344Ser)	ATRNL1 (N344S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332638	NM_207303.4(ATRNL1):c.2249A>C (p.Glu750Ala)	ATRNL1 (E750A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332626	NM_207303.4(ATRNL1):c.2264T>C (p.Ile755Thr)	ATRNL1 (I755T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332615	NM_207303.4(ATRNL1):c.16C>T (p.Arg6Trp)	ATRNL1, LOC130004804 (R6W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332604	NM_207303.4(ATRNL1):c.2446A>G (p.Ile816Val)	ATRNL1 (I816V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332585	NM_207303.4(ATRNL1):c.3484G>A (p.Val1162Ile)	ATRNL1 (V1162I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332574	NM_207303.4(ATRNL1):c.2648C>T (p.Ala883Val)	ATRNL1 (A883V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332564	NM_207303.4(ATRNL1):c.23G>T (p.Arg8Leu)	ATRNL1, LOC130004804 (R8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132172	NM_207303.4(ATRNL1):c.863A>C (p.Glu288Ala)	ATRNL1 (E288A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132171	NM_207303.4(ATRNL1):c.469G>A (p.Ala157Thr)	ATRNL1 (A157T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132170	NM_207303.4(ATRNL1):c.3887T>G (p.Leu1296Arg)	ATRNL1 (L1296R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132169	NM_207303.4(ATRNL1):c.3578A>G (p.Lys1193Arg)	ATRNL1 (K1193R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132168	NM_207303.4(ATRNL1):c.3537G>T (p.Lys1179Asn)	ATRNL1 (K1179N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132167	NM_207303.4(ATRNL1):c.3515A>G (p.Glu1172Gly)	ATRNL1 (E1172G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132166	NM_207303.4(ATRNL1):c.2762A>G (p.Tyr921Cys)	ATRNL1 (Y921C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132165	NM_207303.4(ATRNL1):c.2730C>G (p.Ser910Arg)	ATRNL1 (S910R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132163	NM_207303.4(ATRNL1):c.2639A>C (p.Asn880Thr)	ATRNL1 (N880T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132162	NM_207303.4(ATRNL1):c.2574A>T (p.Leu858Phe)	ATRNL1 (L858F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132161	NM_207303.4(ATRNL1):c.2525A>G (p.Asn842Ser)	ATRNL1 (N842S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132160	NM_207303.4(ATRNL1):c.2513C>T (p.Pro838Leu)	ATRNL1 (P838L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132159	NM_207303.4(ATRNL1):c.248C>T (p.Pro83Leu)	ATRNL1 (P83L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132158	NM_207303.4(ATRNL1):c.2459A>G (p.Tyr820Cys)	ATRNL1 (Y820C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132157	NM_207303.4(ATRNL1):c.1945A>G (p.Asn649Asp)	ATRNL1 (N649D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132156	NM_207303.4(ATRNL1):c.1705A>G (p.Ile569Val)	ATRNL1 (I569V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132155	NM_207303.4(ATRNL1):c.1484A>G (p.Tyr495Cys)	ATRNL1 (Y495C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132153	NM_207303.4(ATRNL1):c.1397G>A (p.Gly466Asp)	ATRNL1 (G466D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132152	NM_207303.4(ATRNL1):c.1255A>G (p.Met419Val)	ATRNL1 (M419V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132151	NM_207303.4(ATRNL1):c.1172A>G (p.His391Arg)	ATRNL1 (H391R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2640870	NM_207303.4(ATRNL1):c.3261A>G (p.Gln1087=)	ATRNL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640869	NM_207303.4(ATRNL1):c.729T>C (p.Ala243=)	ATRNL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2612527	NM_207303.4(ATRNL1):c.1520A>G (p.Asn507Ser)	ATRNL1 (N507S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605644	NM_207303.4(ATRNL1):c.837T>A (p.Asp279Glu)	ATRNL1 (D279E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602328	NM_207303.4(ATRNL1):c.4003C>A (p.Pro1335Thr)	ATRNL1 (P1335T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589782	NM_207303.4(ATRNL1):c.3691G>A (p.Val1231Met)	ATRNL1 (V1231M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2556920	NM_207303.4(ATRNL1):c.2659A>G (p.Lys887Glu)	ATRNL1 (K887E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545510	NM_207303.4(ATRNL1):c.137A>G (p.Tyr46Cys)	ATRNL1, LOC130004804 (Y46C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543202	NM_207303.4(ATRNL1):c.779A>C (p.Tyr260Ser)	ATRNL1 (Y260S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531959	NM_207303.4(ATRNL1):c.2654C>T (p.Pro885Leu)	ATRNL1 (P885L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516075	NM_207303.4(ATRNL1):c.2933G>A (p.Arg978Gln)	ATRNL1 (R978Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487705	NM_207303.4(ATRNL1):c.1380A>T (p.Lys460Asn)	ATRNL1 (K460N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485762	NM_207303.4(ATRNL1):c.3859G>C (p.Glu1287Gln)	ATRNL1 (E1287Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457020	NM_207303.4(ATRNL1):c.3454A>G (p.Asn1152Asp)	ATRNL1 (N1152D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392303	NM_207303.4(ATRNL1):c.3577A>G (p.Lys1193Glu)	ATRNL1 (K1193E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392302	NM_207303.4(ATRNL1):c.3571T>A (p.Tyr1191Asn)	ATRNL1 (Y1191N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392076	NM_207303.4(ATRNL1):c.2941A>G (p.Met981Val)	ATRNL1 (M981V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382402	NM_207303.4(ATRNL1):c.1514A>G (p.Glu505Gly)	ATRNL1 (E505G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380600	NM_207303.4(ATRNL1):c.3536A>G (p.Lys1179Arg)	ATRNL1 (K1179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380415	NM_207303.4(ATRNL1):c.113A>C (p.Asp38Ala)	ATRNL1, LOC130004804 (D38A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362918	NM_207303.4(ATRNL1):c.52G>A (p.Gly18Arg)	ATRNL1, LOC130004804 (G18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357465	NM_207303.4(ATRNL1):c.3674A>G (p.Asn1225Ser)	ATRNL1 (N1225S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323334	NM_207303.4(ATRNL1):c.1001T>C (p.Leu334Pro)	ATRNL1 (L334P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322969	NM_207303.4(ATRNL1):c.4054C>G (p.Gln1352Glu)	ATRNL1 (Q1352E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304371	NM_207303.4(ATRNL1):c.1821C>G (p.Ile607Met)	ATRNL1 (I607M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304370	NM_207303.4(ATRNL1):c.1820T>G (p.Ile607Ser)	ATRNL1 (I607S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292355	NM_207303.4(ATRNL1):c.1721A>G (p.Asn574Ser)	ATRNL1 (N574S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284211	NM_207303.4(ATRNL1):c.1408C>T (p.His470Tyr)	ATRNL1 (H470Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282222	NM_207303.4(ATRNL1):c.838T>C (p.Cys280Arg)	ATRNL1 (C280R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279240	NM_207303.4(ATRNL1):c.2866C>T (p.Pro956Ser)	ATRNL1 (P956S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278551	NM_207303.4(ATRNL1):c.4096C>T (p.Arg1366Trp)	ATRNL1 (R1366W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270044	NM_207303.4(ATRNL1):c.3137G>C (p.Gly1046Ala)	ATRNL1 (G1046A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264211	NM_207303.4(ATRNL1):c.821G>A (p.Ser274Asn)	ATRNL1 (S274N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262199	NM_207303.4(ATRNL1):c.2956A>G (p.Met986Val)	ATRNL1 (M986V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257443	NM_207303.4(ATRNL1):c.1081G>T (p.Ala361Ser)	ATRNL1 (A361S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253873	NM_207303.4(ATRNL1):c.1597A>G (p.Met533Val)	ATRNL1 (M533V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242739	NM_207303.4(ATRNL1):c.1838C>T (p.Pro613Leu)	ATRNL1 (P613L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242280	NM_207303.4(ATRNL1):c.1957A>G (p.Arg653Gly)	ATRNL1 (R653G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236644	NM_207303.4(ATRNL1):c.241T>A (p.Cys81Ser)	ATRNL1 (C81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228714	NM_207303.4(ATRNL1):c.1771G>A (p.Gly591Arg)	ATRNL1 (G591R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224109	NM_207303.4(ATRNL1):c.4027A>G (p.Ile1343Val)	ATRNL1 (I1343V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222851	NM_207303.4(ATRNL1):c.373G>A (p.Gly125Ser)	ATRNL1 (G125S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222245	NM_207303.4(ATRNL1):c.760G>A (p.Gly254Ser)	ATRNL1 (G254S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207812	NM_207303.4(ATRNL1):c.451G>A (p.Asp151Asn)	ATRNL1 (D151N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808896	GRCh37/hg19 10q25.3(chr10:116856071-117270956)x1	ATRNL1	Copy number loss	not provided	GUncertain significance
Select item 1807617	GRCh37/hg19 10q25.3(chr10:117120957-117648757)x1	ATRNL1	Copy number loss	not provided	GUncertain significance
Select item 1676870	NM_207303.4(ATRNL1):c.3609A>G (p.Thr1203=)	ATRNL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1527606	GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066)	ACADSB, ARMS2 +54 more	Copy number loss	not specified	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1340153	GRCh37/hg19 10q25.1-25.3(chr10:107092654-117852548)x1	ABLIM1, ACSL5 +32 more	Copy number loss	not provided	GUncertain significance
Select item 1320613	NM_207303.4(ATRNL1):c.2966G>A (p.Ser989Asn)	ATRNL1 (S989N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 979293	GRCh37/hg19 10q25.3(chr10:116786179-117612319)x3	ATRNL1	Copy number gain	not provided	GUncertain significance
Select item 979292	GRCh37/hg19 10q25.3(chr10:116729745-116930466)x3	ATRNL1, TRUB1	Copy number gain	not provided	GUncertain significance
Select item 710446	NM_207303.4(ATRNL1):c.1168A>G (p.Ile390Val)	ATRNL1 (I390V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 688988	GRCh37/hg19 10q25.3(chr10:116643681-116879228)x3	ATRNL1, FHIP2A +1 more	Copy number gain	not provided	GUncertain significance
Select item 687442	GRCh37/hg19 10q25.3(chr10:117395636-117501006)x1	ATRNL1	Copy number loss	not provided	GUncertain significance
Select item 687356	GRCh37/hg19 10q25.3(chr10:117011829-117066124)x1	ATRNL1	Copy number loss	not provided	GUncertain significance
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 687040	GRCh37/hg19 10q25.3(chr10:117019650-117087748)x1	ATRNL1	Copy number loss	not provided	GUncertain significance
Select item 687038	GRCh37/hg19 10q25.3(chr10:117120956-117239047)x3	ATRNL1	Copy number gain	not provided	GUncertain significance
Select item 686802	GRCh37/hg19 10q25.3(chr10:117019650-117075795)x1	ATRNL1	Copy number loss	not provided	GUncertain significance

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