LMO7[gene] - 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 +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +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 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	LOC130009879, LOC130009880 +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	OBI1-AS1, OLFM4 +513 more	Copy number loss	See cases	GPathogenic
Select item 145617	GRCh38/hg38 13q21.2-31.1(chr13:60536344-84553188)x1	ACOD1, ATXN8OS +258 more	Copy number loss	See cases	GPathogenic
Select item 152961	GRCh38/hg38 13q21.31-31.1(chr13:63713365-79638415)x1	ACOD1, ATXN8OS +202 more	Copy number loss	See cases	GPathogenic
Select item 145515	GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)x1	ACOD1, ATXN8OS +232 more	Copy number loss	See cases	GPathogenic
Select item 149578	GRCh38/hg38 13q21.33-31.1(chr13:72681540-79638468)x1	ACOD1, BORA +141 more	Copy number loss	See cases	GPathogenic
Select item 2410517	NM_005358.5(LMO7):c.53A>G (p.Tyr18Cys)	LMO7, LMO7-AS1 (Y18C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290990	NM_005358.5(LMO7):c.102G>T (p.Arg34Ser)	LMO7, LMO7-AS1 (R34S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211229	NM_005358.5(LMO7):c.112T>C (p.Cys38Arg)	LMO7, LMO7-AS1 (C38R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119361	NM_005358.5(LMO7):c.136G>C (p.Gly46Arg)	LMO7, LMO7-AS1 (G46R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602102	NM_005358.5(LMO7):c.156C>A (p.Asp52Glu)	LMO7, LMO7-AS1 (D52E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2537888	NM_005358.5(LMO7):c.169A>G (p.Lys57Glu)	LMO7, LMO7-AS1 (K57E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523858	NM_005358.5(LMO7):c.179T>C (p.Ile60Thr)	LMO7, LMO7-AS1 (I60T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490337	NM_005358.5(LMO7):c.214A>T (p.Ile72Phe)	LMO7, LMO7-AS1 (I72F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290988	NM_001306080.2(LMO7):c.101A>G (p.Asp34Gly)	LMO7 (D34G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268335	NM_001306080.2(LMO7):c.110C>T (p.Ala37Val)	LMO7 (A37V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2632106	NM_001306080.2(LMO7):c.140+4A>G	LMO7	Single nucleotide variant (intron variant)	LMO7-related disorder	GUncertain significance
Select item 2210808	NM_001306080.2(LMO7):c.166G>A (p.Val56Ile)	LMO7 (V108I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2215610	NM_001306080.2(LMO7):c.182A>G (p.Asn61Ser)	LMO7 (N61S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237412	NM_001306080.2(LMO7):c.194C>T (p.Thr65Ile)	LMO7 (T117I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119369	NM_001306080.2(LMO7):c.205G>C (p.Gly69Arg)	LMO7 (G69R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3355591	NM_001306080.2(LMO7):c.283_295del (p.Asp95fs)	LMO7 (D147fs +2 more)	Deletion (frameshift variant +1 more)	LMO7-related disorder	GUncertain significance
Select item 724067	NM_001306080.2(LMO7):c.513C>T (p.Tyr171=)	LMO7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3036921	NM_001306080.2(LMO7):c.656G>C (p.Arg219Pro)	LMO7 (R177P +2 more)	Single nucleotide variant (missense variant +1 more)	LMO7-related disorder	GUncertain significance
Select item 735171	NM_001306080.2(LMO7):c.684G>A (p.Ser228=)	LMO7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3119368	NM_001306080.2(LMO7):c.728C>T (p.Ser243Leu)	LMO7 (S243L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529910	NM_001306080.2(LMO7):c.743C>T (p.Ser248Leu)	LMO7 (S206L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355715	NM_001306080.2(LMO7):c.778C>T (p.Arg260Cys)	LMO7 (R218C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357174	NM_001306080.2(LMO7):c.838A>G (p.Lys280Glu)	LMO7 (K238E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405602	NM_001306080.2(LMO7):c.943G>A (p.Val315Met)	LMO7 (V273M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463712	NM_001306080.2(LMO7):c.1028A>G (p.Asn343Ser)	LMO7 (N343S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290987	NM_001306080.2(LMO7):c.1055G>A (p.Arg352His)	LMO7 (R310H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345211	NM_001306080.2(LMO7):c.1063A>C (p.Ser355Arg)	LMO7 (S122R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474492	NM_001306080.2(LMO7):c.1153A>G (p.Arg385Gly)	LMO7 (R152G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471867	NM_001306080.2(LMO7):c.1198C>A (p.Gln400Lys)	LMO7 (Q358K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774709	NM_001306080.2(LMO7):c.1260T>C (p.His420=)	LMO7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3033217	NM_001306080.2(LMO7):c.1286C>G (p.Pro429Arg)	LMO7 (P102R +3 more)	Single nucleotide variant (missense variant +1 more)	LMO7-related disorder	GUncertain significance
Select item 2514240	NM_001306080.2(LMO7):c.1300C>T (p.Arg434Cys)	LMO7 (R392C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119379	NM_001306080.2(LMO7):c.1301G>A (p.Arg434His)	LMO7 (R434H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119380	NM_001306080.2(LMO7):c.1308G>T (p.Lys436Asn)	LMO7 (K109N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290989	NM_001306080.2(LMO7):c.1372T>G (p.Leu458Val)	LMO7 (L458V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472584	NM_001306080.2(LMO7):c.1436G>A (p.Arg479Gln)	LMO7 (R246Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589151	NM_001306080.2(LMO7):c.1505G>T (p.Cys502Phe)	LMO7 (C460F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119381	NM_001306080.2(LMO7):c.1513G>A (p.Gly505Ser)	LMO7 (G178S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400376	NM_001306080.2(LMO7):c.1577A>G (p.Lys526Arg)	LMO7 (K293R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508443	NM_001306080.2(LMO7):c.1595C>G (p.Ser532Cys)	LMO7 (S490C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359639	NM_001306080.2(LMO7):c.1606G>A (p.Asp536Asn)	LMO7 (D209N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 708442	NM_001306080.2(LMO7):c.1610G>A (p.Arg537Lys)	LMO7 (R304K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 781265	NM_001306080.2(LMO7):c.1632C>T (p.Pro544=)	LMO7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2543517	NM_001306080.2(LMO7):c.1720T>G (p.Cys574Gly)	LMO7 (C341G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119358	NM_001306080.2(LMO7):c.1745G>A (p.Arg582Gln)	LMO7 (R582Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119359	NM_001306080.2(LMO7):c.1804G>A (p.Val602Met)	LMO7 (V560M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119360	NM_001306080.2(LMO7):c.1870C>T (p.Arg624Trp)	LMO7 (R391W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2628008	NM_001306080.2(LMO7):c.1883G>C (p.Arg628Thr)	LMO7 (R301T +3 more)	Single nucleotide variant (missense variant +1 more)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 2599624	NM_001306080.2(LMO7):c.1937G>T (p.Gly646Val)	LMO7 (G319V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516611	NM_001306080.2(LMO7):c.1972G>A (p.Ala658Thr)	LMO7 (A376T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053977	NM_001306080.2(LMO7):c.2263G>A (p.Asp755Asn)	LMO7 (D428N +4 more)	Single nucleotide variant (missense variant)	LMO7-related disorder	GLikely benign
Select item 2522870	NM_001306080.2(LMO7):c.2281G>A (p.Gly761Arg)	LMO7 (G479R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459543	NM_001306080.2(LMO7):c.2338G>A (p.Glu780Lys)	LMO7 (E453K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622334	NM_001306080.2(LMO7):c.2375A>G (p.Lys792Arg)	LMO7 (K750R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395375	NM_001306080.2(LMO7):c.2381A>G (p.Asp794Gly)	LMO7 (D561G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396499	NM_001306080.2(LMO7):c.2410C>T (p.Arg804Cys)	LMO7 (R477C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616528	NM_001306080.2(LMO7):c.2449G>A (p.Val817Met)	LMO7 (V584M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353343	NM_001306080.2(LMO7):c.2458C>A (p.Gln820Lys)	LMO7 (Q493K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601416	NM_001306080.2(LMO7):c.2485C>T (p.Arg829Cys)	LMO7 (R502C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597015	NM_001306080.2(LMO7):c.2486G>A (p.Arg829His)	LMO7 (R547H +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2535006	NM_001306080.2(LMO7):c.2503A>G (p.Met835Val)	LMO7 (M508V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290983	NM_001306080.2(LMO7):c.2543A>G (p.Tyr848Cys)	LMO7 (Y566C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119362	NM_001306080.2(LMO7):c.2545C>T (p.Arg849Trp)	LMO7 (R807W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238572	NM_001306080.2(LMO7):c.2600C>T (p.Ser867Phe)	LMO7 (S540F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456244	NM_001306080.2(LMO7):c.2623C>A (p.Leu875Ile)	LMO7 (L548I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713176	NM_001306080.2(LMO7):c.2641-8T>A	LMO7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2455905	NM_001306080.2(LMO7):c.2641A>G (p.Met881Val)	LMO7 (M599V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770421	NM_001306080.2(LMO7):c.2650G>A (p.Ala884Thr)	LMO7 (A557T +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3119363	NM_001306080.2(LMO7):c.2677G>C (p.Asp893His)	LMO7 (D566H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531734	NM_001306080.2(LMO7):c.2693C>A (p.Pro898Gln)	LMO7 (P571Q +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2213069	NM_001306080.2(LMO7):c.2704G>T (p.Val902Phe)	LMO7 (V575F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637097	NM_001306080.2(LMO7):c.2708G>A (p.Ser903Asn)	LMO7 (S576N +4 more)	Single nucleotide variant (missense variant)	LMO7-related disorder	GUncertain significance

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