"Ambry Genetics"[submitter] AND "RTL1"[gene] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2303290	NM_001134888.3(RTL1):c.4015C>A (p.Pro1339Thr)	RTL1 (P1339T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362456	NM_001134888.3(RTL1):c.4000G>A (p.Ala1334Thr)	RTL1 (A1334T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470374	NM_001134888.3(RTL1):c.3983G>A (p.Arg1328Gln)	RTL1 (R1328Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3156885	NM_001134888.3(RTL1):c.3982C>T (p.Arg1328Trp)	RTL1 (R1328W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325664	NM_001134888.3(RTL1):c.3883C>T (p.Arg1295Cys)	RTL1 (R1295C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315652	NM_001134888.3(RTL1):c.3875T>C (p.Leu1292Pro)	RTL1 (L1292P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242513	NM_001134888.3(RTL1):c.3842G>A (p.Arg1281His)	RTL1 (R1281H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2277013	NM_001134888.3(RTL1):c.3836G>A (p.Arg1279His)	RTL1 (R1279H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545586	NM_001134888.3(RTL1):c.3830C>G (p.Pro1277Arg)	RTL1 (P1277R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156884	NM_001134888.3(RTL1):c.3805C>T (p.Pro1269Ser)	RTL1 (P1269S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599150	NM_001134888.3(RTL1):c.3724C>T (p.Arg1242Cys)	MIR431, RTL1 (R1242C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257631	NM_001134888.3(RTL1):c.3643C>T (p.Arg1215Cys)	RTL1 (R1215C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593723	NM_001134888.3(RTL1):c.3613A>C (p.Thr1205Pro)	RTL1 (T1205P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156883	NM_001134888.3(RTL1):c.3592G>A (p.Glu1198Lys)	RTL1 (E1198K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156882	NM_001134888.3(RTL1):c.3538T>C (p.Ser1180Pro)	RTL1 (S1180P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2349225	NM_001134888.3(RTL1):c.3535C>T (p.His1179Tyr)	RTL1 (H1179Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370432	NM_001134888.3(RTL1):c.3529G>C (p.Ala1177Pro)	RTL1 (A1177P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405640	NM_001134888.3(RTL1):c.3524G>A (p.Arg1175Gln)	RTL1 (R1175Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481730	NM_001134888.3(RTL1):c.3419C>G (p.Thr1140Arg)	RTL1 (T1140R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488649	NM_001134888.3(RTL1):c.3322C>T (p.Arg1108Trp)	RTL1 (R1108W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473172	NM_001134888.3(RTL1):c.3301G>A (p.Val1101Met)	RTL1 (V1101M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456213	NM_001134888.3(RTL1):c.3133A>C (p.Ile1045Leu)	RTL1 (I1045L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156880	NM_001134888.3(RTL1):c.3068C>G (p.Pro1023Arg)	RTL1 (P1023R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553796	NM_001134888.3(RTL1):c.3029C>T (p.Ala1010Val)	RTL1 (A1010V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156879	NM_001134888.3(RTL1):c.2999G>A (p.Arg1000Gln)	RTL1 (R1000Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226076	NM_001134888.3(RTL1):c.2710G>A (p.Ala904Thr)	RTL1 (A904T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301140	NM_001134888.3(RTL1):c.2684A>G (p.Asp895Gly)	RTL1 (D895G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345480	NM_001134888.3(RTL1):c.2581C>T (p.Arg861Cys)	RTL1 (R861C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378456	NM_001134888.3(RTL1):c.2564G>A (p.Cys855Tyr)	RTL1 (C855Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315644	NM_001134888.3(RTL1):c.2467G>A (p.Val823Met)	RTL1 (V823M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590406	NM_001134888.3(RTL1):c.2455T>C (p.Tyr819His)	RTL1 (Y819H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315649	NM_001134888.3(RTL1):c.2438T>C (p.Ile813Thr)	RTL1 (I813T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529438	NM_001134888.3(RTL1):c.2434T>A (p.Phe812Ile)	RTL1 (F812I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455910	NM_001134888.3(RTL1):c.2344G>C (p.Val782Leu)	RTL1 (V782L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511993	NM_001134888.3(RTL1):c.2269C>A (p.Arg757Ser)	RTL1 (R757S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156878	NM_001134888.3(RTL1):c.2155A>G (p.Ile719Val)	RTL1 (I719V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156877	NM_001134888.3(RTL1):c.2142C>A (p.Asn714Lys)	RTL1 (N714K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618117	NM_001134888.3(RTL1):c.2107T>C (p.Phe703Leu)	RTL1 (F703L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550689	NM_001134888.3(RTL1):c.1986G>C (p.Trp662Cys)	RTL1 (W662C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156876	NM_001134888.3(RTL1):c.1985G>C (p.Trp662Ser)	RTL1 (W662S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247302	NM_001134888.3(RTL1):c.1952C>T (p.Pro651Leu)	RTL1 (P651L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315651	NM_001134888.3(RTL1):c.1866G>T (p.Arg622Ser)	RTL1 (R622S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472339	NM_001134888.3(RTL1):c.1840G>A (p.Ala614Thr)	RTL1 (A614T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534527	NM_001134888.3(RTL1):c.1719T>G (p.Asp573Glu)	MIR127, RTL1 (D573E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3156875	NM_001134888.3(RTL1):c.1703C>G (p.Pro568Arg)	RTL1 (P568R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402698	NM_001134888.3(RTL1):c.1690G>A (p.Asp564Asn)	RTL1 (D564N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369116	NM_001134888.3(RTL1):c.1571C>T (p.Thr524Ile)	RTL1 (T524I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156874	NM_001134888.3(RTL1):c.1543G>A (p.Glu515Lys)	RTL1 (E515K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156873	NM_001134888.3(RTL1):c.1528C>G (p.Arg510Gly)	RTL1 (R510G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214272	NM_001134888.3(RTL1):c.1520G>A (p.Arg507His)	RTL1 (R507H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588679	NM_001134888.3(RTL1):c.1519C>T (p.Arg507Cys)	RTL1 (R507C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232633	NM_001134888.3(RTL1):c.1447C>T (p.His483Tyr)	RTL1 (H483Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208207	NM_001134888.3(RTL1):c.1445T>C (p.Ile482Thr)	RTL1 (I482T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618435	NM_001134888.3(RTL1):c.1418G>C (p.Trp473Ser)	RTL1 (W473S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315645	NM_001134888.3(RTL1):c.1384G>A (p.Val462Met)	RTL1 (V462M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614284	NM_001134888.3(RTL1):c.1270G>A (p.Ala424Thr)	RTL1 (A424T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315642	NM_001134888.3(RTL1):c.1217G>A (p.Arg406His)	RTL1 (R406H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732330	NM_001134888.3(RTL1):c.1202A>G (p.His401Arg)	RTL1 (H401R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2293713	NM_001134888.3(RTL1):c.1139C>T (p.Thr380Ile)	RTL1 (T380I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601704	NM_001134888.3(RTL1):c.1130G>A (p.Arg377Gln)	RTL1 (R377Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257509	NM_001134888.3(RTL1):c.1119G>C (p.Glu373Asp)	RTL1 (E373D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156871	NM_001134888.3(RTL1):c.1017C>G (p.Phe339Leu)	RTL1 (F339L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315648	NM_001134888.3(RTL1):c.1004G>A (p.Arg335Lys)	RTL1 (R335K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235193	NM_001134888.3(RTL1):c.994G>A (p.Glu332Lys)	RTL1 (E332K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492382	NM_001134888.3(RTL1):c.977T>C (p.Leu326Ser)	RTL1 (L326S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315647	NM_001134888.3(RTL1):c.854G>A (p.Arg285His)	RTL1 (R285H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156887	NM_001134888.3(RTL1):c.793G>A (p.Gly265Arg)	RTL1 (G265R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331856	NM_001134888.3(RTL1):c.785C>T (p.Pro262Leu)	RTL1 (P262L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318822	NM_001134888.3(RTL1):c.785C>G (p.Pro262Arg)	RTL1 (P262R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315650	NM_001134888.3(RTL1):c.751G>C (p.Glu251Gln)	RTL1 (E251Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340983	NM_001134888.3(RTL1):c.722T>G (p.Val241Gly)	RTL1 (V241G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357063	NM_001134888.3(RTL1):c.643G>A (p.Glu215Lys)	RTL1 (E215K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156886	NM_001134888.3(RTL1):c.499G>A (p.Val167Met)	RTL1 (V167M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315643	NM_001134888.3(RTL1):c.395G>A (p.Arg132Gln)	RTL1 (R132Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2288499	NM_001134888.3(RTL1):c.382C>T (p.Pro128Ser)	RTL1 (P128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307377	NM_001134888.3(RTL1):c.334G>A (p.Asp112Asn)	RTL1 (D112N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298759	NM_001134888.3(RTL1):c.330G>C (p.Arg110Ser)	RTL1 (R110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156881	NM_001134888.3(RTL1):c.313G>T (p.Gly105Cys)	RTL1 (G105C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290043	NM_001134888.3(RTL1):c.253C>T (p.Arg85Cys)	MIR432, RTL1 (R85C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319543	NM_001134888.3(RTL1):c.173C>T (p.Pro58Leu)	RTL1 (P58L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156872	NM_001134888.3(RTL1):c.124C>T (p.Arg42Trp)	RTL1 (R42W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301385	NM_001134888.3(RTL1):c.10C>T (p.Pro4Ser)	MIR136, RTL1 (P4S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 82