55213[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	ABCC4, ABHD13 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC126861801, LOC126861802 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LOC126861839, LOC126861840 +2045 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	ABCC4, ABHD13 +2040 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC124849292, LOC124849293 +2028 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	ABCC4, ABHD13 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009743, LOC130009744 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009548, LOC130009549 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	RBM26-AS1, RCBTB1 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009757, LOC130009758 +780 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	LOC130009739, LOC130009740 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	AKAP11, ALG11 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009911, LOC130009912 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130010180, LOC130010181 +1557 more	Copy number gain	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	AKAP11, ALG11 +604 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LRRC63, MED4 +612 more	Copy number loss	See cases	GPathogenic
Select item 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	AKAP11, ARL11 +437 more	Copy number loss	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	LINC00392, LINC00393 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009913, LOC130009914 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	LOC130009813, LOC130009814 +729 more	Copy number gain	See cases	GPathogenic
Select item 57643	GRCh38/hg38 13q14.11-14.2(chr13:43505396-49983668)x1	ARL11, CAB39L +215 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009962, LOC130009963 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ABCC4, ABHD13 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	MIR20A, MIR3169 +657 more	Copy number loss	See cases	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	ACOD1, ALG11 +513 more	Copy number loss	See cases	GPathogenic
Select item 154070	GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1	ALG11, ARL11 +266 more	Copy number loss	See cases	GPathogenic
Select item 147435	GRCh38/hg38 13q14.2-14.3(chr13:48307302-50927473)x1	ARL11, CAB39L +101 more	Copy number loss	See cases	GPathogenic
Select item 155510	GRCh38/hg38 13q14.2(chr13:48591738-50064488)x3	ARL11, CAB39L +50 more	Copy number gain	See cases	GUncertain significance
Select item 149851	GRCh38/hg38 13q14.2(chr13:49476783-49716109)x3	ARL11, EBPL +13 more	Copy number gain	See cases	GLikely benign
Select item 1265543	NM_018191.4(RCBTB1):c.*6A>G	RCBTB1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 3052661	NM_018191.4(RCBTB1):c.*4G>A	RCBTB1	Single nucleotide variant (3 prime UTR variant +1 more)	RCBTB1-related condition	GBenign
Select item 1934527	NM_018191.4(RCBTB1):c.1593C>G (p.Asn531Lys)	RCBTB1 (N338K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1577655	NM_018191.4(RCBTB1):c.1584C>G (p.Ala528=)	RCBTB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1965279	NM_018191.4(RCBTB1):c.1568C>G (p.Ala523Gly)	RCBTB1 (A330G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1467121	NM_018191.4(RCBTB1):c.1554A>T (p.Glu518Asp)	RCBTB1 (E325D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 962426	NM_018191.4(RCBTB1):c.1543C>G (p.Leu515Val)	RCBTB1 (L515V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1298569	NM_018191.4(RCBTB1):c.1540C>T (p.Pro514Ser)	RCBTB1 (P321S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1417737	NM_018191.4(RCBTB1):c.1538G>C (p.Gly513Ala)	RCBTB1 (G513A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1969682	NM_018191.4(RCBTB1):c.1536T>A (p.Asp512Glu)	RCBTB1 (D512E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 967396	NM_018191.4(RCBTB1):c.1527G>A (p.Trp509Ter)	RCBTB1 (W509* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1476639	NM_018191.4(RCBTB1):c.1525T>G (p.Trp509Gly)	RCBTB1 (W316G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1956178	NM_018191.4(RCBTB1):c.1512G>T (p.Gln504His)	RCBTB1 (Q311H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2096366	NM_018191.4(RCBTB1):c.1504G>C (p.Val502Leu)	RCBTB1 (V309L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 858115	NM_018191.4(RCBTB1):c.1498A>T (p.Thr500Ser)	RCBTB1 (T307S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2976332	NM_018191.4(RCBTB1):c.1494T>C (p.His498=)	RCBTB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1491026	NM_018191.4(RCBTB1):c.1490_1493del (p.Asn497fs)	RCBTB1 (N304fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2012281	NM_018191.4(RCBTB1):c.1492C>T (p.His498Tyr)	RCBTB1 (H305Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1170368	NM_018191.4(RCBTB1):c.1490A>G (p.Asn497Ser)	RCBTB1 (N304S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1053712	NM_018191.4(RCBTB1):c.1468T>C (p.Phe490Leu)	RCBTB1 (F297L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1061581	NM_018191.4(RCBTB1):c.1457A>G (p.Asp486Gly)	RCBTB1 (D293G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2128754	NM_018191.4(RCBTB1):c.1456-10G>C	RCBTB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930776	NM_018191.4(RCBTB1):c.1456-14T>C	RCBTB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276485	NM_018191.4(RCBTB1):c.1456-82G>C	RCBTB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277594	NM_018191.4(RCBTB1):c.1455+31A>T	RCBTB1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1546013	NM_018191.4(RCBTB1):c.1455+16A>G	RCBTB1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2796159	NM_018191.4(RCBTB1):c.1455+13A>G	RCBTB1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1165725	NM_018191.4(RCBTB1):c.1455+12A>G	RCBTB1	Single nucleotide variant (intron variant +1 more)	RCBTB1-related condition +1 more	GBenign
Select item 1156887	NM_018191.4(RCBTB1):c.1455+6_1455+7del	RCBTB1	Deletion (frameshift variant +1 more)	not provided	GLikely benign
Select item 938546	NM_018191.4(RCBTB1):c.1455+6T>A	RCBTB1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 847795	NM_018191.4(RCBTB1):c.1445ATG[1] (p.Asp483del)	RCBTB1 (D290del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1120485	NM_018191.4(RCBTB1):c.1446T>C (p.Tyr482=)	RCBTB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1930902	NM_018191.4(RCBTB1):c.1443A>G (p.Arg481=)	RCBTB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2194955	NM_018191.4(RCBTB1):c.1442G>C (p.Arg481Thr)	RCBTB1 (R288T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2916719	NM_018191.4(RCBTB1):c.1438G>A (p.Val480Ile)	RCBTB1 (V287I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1102173	NM_018191.4(RCBTB1):c.1422G>A (p.Ser474=)	RCBTB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1043310	NM_018191.4(RCBTB1):c.1421C>T (p.Ser474Leu)	RCBTB1 (S281L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2112444	NM_018191.4(RCBTB1):c.1416C>T (p.Ala472=)	RCBTB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1395969	NM_018191.4(RCBTB1):c.1411A>G (p.Asn471Asp)	RCBTB1 (N278D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1016836	NM_018191.4(RCBTB1):c.1408G>A (p.Glu470Lys)	RCBTB1 (E277K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2003865	NM_018191.4(RCBTB1):c.1389C>A (p.Ile463=)	RCBTB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 762354	NM_018191.4(RCBTB1):c.1383C>T (p.His461=)	RCBTB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2161517	NM_018191.4(RCBTB1):c.1381C>T (p.His461Tyr)	RCBTB1 (H268Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1011371	NM_018191.4(RCBTB1):c.1369A>C (p.Lys457Gln)	RCBTB1 (K264Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1507333	NM_018191.4(RCBTB1):c.1361G>C (p.Arg454Thr)	RCBTB1 (R261T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2005352	NM_018191.4(RCBTB1):c.1360A>C (p.Arg454=)	RCBTB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1959902	NM_018191.4(RCBTB1):c.1340C>T (p.Ala447Val)	RCBTB1 (A254V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2841902	NM_018191.4(RCBTB1):c.1325-1G>A	RCBTB1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 746078	NM_018191.4(RCBTB1):c.1325-7_1325-2del	RCBTB1	Deletion (splice acceptor variant)	not provided	GLikely benign
Select item 1080887	NM_018191.4(RCBTB1):c.1325-4T>C	RCBTB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1644043	NM_018191.4(RCBTB1):c.1325-10T>C	RCBTB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1356941	NM_018191.4(RCBTB1):c.1325-15A>G	RCBTB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2090913	NM_018191.4(RCBTB1):c.1325-16C>T	RCBTB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282517	NM_018191.4(RCBTB1):c.1324+143G>A	RCBTB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2712284	NM_018191.4(RCBTB1):c.1324+16T>G	RCBTB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1170180	NM_018191.4(RCBTB1):c.1324+15T>C	RCBTB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2113217	NM_018191.4(RCBTB1):c.1324+5TG[3]	RCBTB1	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2054479	NM_018191.4(RCBTB1):c.1324+4del	RCBTB1	Deletion (intron variant)	not provided	GUncertain significance
Select item 1381798	NM_018191.4(RCBTB1):c.1321A>G (p.Ile441Val)	RCBTB1 (I248V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1076839	NM_018191.4(RCBTB1):c.1320dup (p.Ile441fs)	RCBTB1 (I248fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2065447	NM_018191.4(RCBTB1):c.1318G>A (p.Ala440Thr)	RCBTB1 (A247T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2121468	NM_018191.4(RCBTB1):c.1308G>A (p.Pro436=)	RCBTB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1137668	NM_018191.4(RCBTB1):c.1299C>T (p.Val433=)	RCBTB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 971517	NM_018191.4(RCBTB1):c.1297G>C (p.Val433Leu)	RCBTB1 (V240L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 959386	NM_018191.4(RCBTB1):c.1297G>A (p.Val433Ile)	RCBTB1 (V240I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1131303	NM_018191.4(RCBTB1):c.1296A>C (p.Thr432=)	RCBTB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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