ClinVar for Gene (Select 4008) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3119378	NM_001306080.2(LMO7):c.*65C>G	LMO7 (L1576V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3119377	NM_001306080.2(LMO7):c.4879C>T (p.Arg1627Trp)	LMO7 (R1394W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3119376	NM_001306080.2(LMO7):c.4852G>A (p.Asp1618Asn)	LMO7 (D1385N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3119375	NM_001306080.2(LMO7):c.4802C>A (p.Ser1601Tyr)	LMO7 (S1274Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119374	NM_001306080.2(LMO7):c.4559G>A (p.Gly1520Asp)	LMO7 (G1238D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119373	NM_001306080.2(LMO7):c.4549C>T (p.Pro1517Ser)	LMO7 (P1235S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119372	NM_001306080.2(LMO7):c.4522C>T (p.Arg1508Trp)	LMO7 (R1226W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119371	NM_001306080.2(LMO7):c.4397G>A (p.Arg1466Gln)	LMO7 (R1233Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119370	NM_001306080.2(LMO7):c.4357A>G (p.Met1453Val)	LMO7 (M1220V +4 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 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 3119367	NM_001306080.2(LMO7):c.3608A>T (p.Lys1203Ile)	LMO7 (K1203I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119366	NM_001306080.2(LMO7):c.3508C>T (p.Arg1170Cys)	LMO7 (R1170C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119365	NM_001306080.2(LMO7):c.3429G>T (p.Arg1143Ser)	LMO7 (R816S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119364	NM_001306080.2(LMO7):c.2899G>C (p.Glu967Gln)	LMO7 (E640Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 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 3063284	GRCh37/hg19 13q21.1-31.3(chr13:56450978-93582180)x1	ACOD1, ATXN8OS +49 more	Copy number loss	not specified	GPathogenic
Select item 3063280	GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1	ABCC4, ACOD1 +81 more	Copy number loss	not specified	GPathogenic
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
Select item 3056996	NM_001306080.2(LMO7):c.4771-10dup	LMO7	Duplication (intron variant)	LMO7-related condition	GLikely benign
Select item 3053977	NM_001306080.2(LMO7):c.2263G>A (p.Asp755Asn)	LMO7 (D428N +4 more)	Single nucleotide variant (missense variant)	LMO7-related condition	GLikely benign
Select item 3052176	NM_001306080.2(LMO7):c.3979C>T (p.Arg1327Cys)	LMO7 (R1000C +4 more)	Single nucleotide variant (missense variant)	LMO7-related condition	GLikely benign
Select item 3048254	NM_001306080.2(LMO7):c.3520G>C (p.Asp1174His)	LMO7 (D1132H +4 more)	Single nucleotide variant (missense variant)	LMO7-related condition	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 condition	GUncertain significance
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 condition	GUncertain significance
Select item 2685473	GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1	ABCC4, ACOD1 +78 more	Copy number loss	not provided	GPathogenic
Select item 2685472	GRCh37/hg19 13q21.33-22.2(chr13:71119640-76667297)x1	BORA, COMMD6 +12 more	Copy number loss	not provided	GUncertain significance
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	ABCC4, ABHD13 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 2664346	GRCh37/hg19 13q22.2-22.3(chr13:76441389-78303365)x3	ACOD1, CLN5 +7 more	Copy number gain	See cases	GUncertain significance
Select item 2643846	NM_001306080.2(LMO7):c.3750C>G (p.Thr1250=)	LMO7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637097	NM_001306080.2(LMO7):c.2708G>A (p.Ser903Asn)	LMO7 (S576N +4 more)	Single nucleotide variant (missense variant)	LMO7-related condition	GUncertain significance
Select item 2632106	NM_001306080.2(LMO7):c.140+4A>G	LMO7	Single nucleotide variant (intron variant)	LMO7-related condition	GUncertain significance
Select item 2628857	NM_001306080.2(LMO7):c.2992G>A (p.Gly998Arg)	LMO7 (G671R +4 more)	Single nucleotide variant (missense variant)	LMO7-related condition	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 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 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 2614620	NM_001306080.2(LMO7):c.4175T>C (p.Ile1392Thr)	LMO7 (I1110T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609403	NM_001306080.2(LMO7):c.3958C>T (p.Arg1320Cys)	LMO7 (R1038C +4 more)	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 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 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 2598215	NM_001306080.2(LMO7):c.3386A>T (p.Glu1129Val)	LMO7 (E1129V +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 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 2547948	NM_001306080.2(LMO7):c.3886A>T (p.Arg1296Trp)	LMO7 (R1014W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547947	NM_001306080.2(LMO7):c.3885G>T (p.Glu1295Asp)	LMO7 (E1013D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2539642	NM_001306080.2(LMO7):c.3928C>T (p.Arg1310Trp)	LMO7 (R1028W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 2530578	NM_001306080.2(LMO7):c.2828C>A (p.Ser943Tyr)	LMO7 (S616Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530401	NM_001306080.2(LMO7):c.*48T>C	LMO7 (V1379A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	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 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 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 2517617	NM_001306080.2(LMO7):c.3148A>G (p.Lys1050Glu)	LMO7 (K1008E +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 2515749	NM_001306080.2(LMO7):c.3211C>T (p.Arg1071Cys)	LMO7 (R1029C +4 more)	Single nucleotide variant (missense variant)	not specified	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 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 2507857	NM_001306080.2(LMO7):c.3512G>C (p.Trp1171Ser)	LMO7 (W889S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494978	NM_001306080.2(LMO7):c.3536G>A (p.Arg1179Gln)	LMO7 (R1179Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493142	NM_001306080.2(LMO7):c.3056T>C (p.Val1019Ala)	LMO7 (V692A +4 more)	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 2482563	NM_001306080.2(LMO7):c.3509G>T (p.Arg1170Leu)	LMO7 (R843L +4 more)	Single nucleotide variant (missense variant)	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 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 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 2464312	NM_001306080.2(LMO7):c.3965C>T (p.Ala1322Val)	LMO7 (A995V +4 more)	Single nucleotide variant (missense variant)	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 2462066	NM_001306080.2(LMO7):c.3791G>A (p.Arg1264Gln)	LMO7 (R1031Q +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 2458574	NM_001306080.2(LMO7):c.3050C>G (p.Ala1017Gly)	LMO7 (A784G +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 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 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 2407734	NM_001306080.2(LMO7):c.4564G>C (p.Val1522Leu)	LMO7 (V1195L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407587	NM_001306080.2(LMO7):c.3307G>T (p.Asp1103Tyr)	LMO7 (D1061Y +4 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 2401786	NM_001306080.2(LMO7):c.4410G>T (p.Trp1470Cys)	LMO7 (W1143C +4 more)	Single nucleotide variant (missense variant)	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 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 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 2384768	NM_001306080.2(LMO7):c.3857C>G (p.Pro1286Arg)	LMO7 (P1286R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381358	NM_001306080.2(LMO7):c.2945C>T (p.Ser982Phe)	LMO7 (S700F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381250	NM_001306080.2(LMO7):c.2893A>G (p.Met965Val)	LMO7 (M732V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377495	NM_001306080.2(LMO7):c.3325C>G (p.Gln1109Glu)	LMO7 (Q1067E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374158	NM_001306080.2(LMO7):c.3254C>T (p.Ala1085Val)	LMO7 (A1085V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366761	NM_001306080.2(LMO7):c.4657A>G (p.Asn1553Asp)	LMO7 (N1226D +4 more)	Single nucleotide variant (missense variant)	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

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