RTL1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	ABCD4, ABHD12B +3281 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3276 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC132090296, LOC132090297 +1422 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	LOC130056647, LOC130056648 +1203 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056481, LOC130056482 +1072 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056535, LOC130056536 +671 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LOC130056672, LOC130056673 +667 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056604, LOC130056605 +654 more	Copy number gain	See cases	GPathogenic
Select item 153097	GRCh38/hg38 14q32.2-32.31(chr14:99794337-100944567)x1	LOC130056444, LOC130056445 +97 more	Copy number loss	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +632 more	Copy number loss	See cases	GPathogenic
Select item 154707	GRCh38/hg38 14q32.2-32.31(chr14:99930669-101022599)x1	BEGAIN, DEGS2 +131 more	Copy number loss	See cases	GPathogenic
Select item 150931	GRCh38/hg38 14q32.2-32.31(chr14:100262836-102500697)x1	BEGAIN, CINP +215 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR493, MIR494 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 162009	NC_000014.9:g.100489287_100900640del411354	MIR431, MIR432 +27 more	Deletion	Paternal uniparental disomy of chromosome 14	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	LOC130056480, LOC130056481 +571 more	Copy number loss	See cases	GPathogenic
Select item 162011	NC_000014.9:g.100806482_101281031del474550	MIR299, MIR300 +106 more	Deletion	Paternal uniparental disomy of chromosome 14	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	IGHV1-46, IGHV1-58 +561 more	Copy number loss	See cases	GPathogenic
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 711467	NM_001134888.3(RTL1):c.3771G>A (p.Gln1257=)	MIR431, RTL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 795086	NM_001134888.3(RTL1):c.3678T>C (p.Gly1226=)	MIR431, RTL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 783050	NM_001134888.3(RTL1):c.3644G>A (p.Arg1215His)	RTL1 (R1215H)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
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 712735	NM_001134888.3(RTL1):c.3600C>T (p.Phe1200=)	RTL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 791188	NM_001134888.3(RTL1):c.3561G>A (p.Gln1187=)	RTL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2644549	NM_001134888.3(RTL1):c.3492T>G (p.Ala1164=)	RTL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739623	NM_001134888.3(RTL1):c.3457G>A (p.Val1153Ile)	RTL1 (V1153I)	Single nucleotide variant (missense variant)	not provided	GBenign
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 712150	NM_001134888.3(RTL1):c.3364C>T (p.Arg1122Cys)	RTL1 (R1122C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786425	NM_001134888.3(RTL1):c.3340C>T (p.Arg1114Trp)	RTL1 (R1114W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1205933	NM_001134888.3(RTL1):c.3323G>A (p.Arg1108Gln)	RTL1 (R1108Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
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 788708	NM_001134888.3(RTL1):c.3301G>C (p.Val1101Leu)	RTL1 (V1101L)	Single nucleotide variant (missense variant)	not provided	GBenign
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 744831	NM_001134888.3(RTL1):c.2968G>A (p.Gly990Ser)	RTL1 (G990S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 1206166	NM_001134888.3(RTL1):c.2554G>A (p.Ala852Thr)	RTL1 (A852T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
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 1012655	NM_001134888.3(RTL1):c.2214C>T (p.Tyr738=)	RTL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1206198	NM_001134888.3(RTL1):c.1672C>A (p.Pro558Thr)	RTL1 (P558T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 751072	NM_001134888.3(RTL1):c.1611G>A (p.Pro537=)	RTL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 733746	NM_001134888.3(RTL1):c.1395G>A (p.Ser465=)	RTL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2644550	NM_001134888.3(RTL1):c.1260C>T (p.Tyr420=)	RTL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 718356	NM_001134888.3(RTL1):c.1195G>A (p.Glu399Lys)	RTL1 (E399K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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

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