ClinVar for Gene (Select 259282) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 2685959	GRCh37/hg19 4p15.33(chr4:13402895-13623842)x3	BOD1L1, NKX3-2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2685107	GRCh37/hg19 4p15.33-15.2(chr4:12238766-23083496)x1	ADGRA3, BOD1L1 +26 more	Copy number loss	not provided	GLikely pathogenic
Select item 2654679	NM_148894.3(BOD1L1):c.3960G>A (p.Ala1320=)	BOD1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654678	NM_148894.3(BOD1L1):c.5324A>C (p.Gln1775Pro)	BOD1L1 (Q1775P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2654677	NM_148894.3(BOD1L1):c.6295C>G (p.Leu2099Val)	BOD1L1 (L2099V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2654676	NM_148894.3(BOD1L1):c.6697G>A (p.Gly2233Ser)	BOD1L1 (G2233S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2654675	NM_148894.3(BOD1L1):c.7593C>T (p.Thr2531=)	BOD1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654674	NM_148894.3(BOD1L1):c.8246T>C (p.Ile2749Thr)	BOD1L1 (I2749T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2622368	NM_148894.3(BOD1L1):c.1844C>T (p.Ser615Leu)	BOD1L1 (S615L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615292	NM_148894.3(BOD1L1):c.7354A>G (p.Ser2452Gly)	BOD1L1 (S2452G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614711	NM_148894.3(BOD1L1):c.6125A>G (p.Glu2042Gly)	BOD1L1 (E2042G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613280	NM_148894.3(BOD1L1):c.4293G>T (p.Glu1431Asp)	BOD1L1 (E1431D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612945	NM_148894.3(BOD1L1):c.6296T>G (p.Leu2099Arg)	BOD1L1 (L2099R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608324	NM_148894.3(BOD1L1):c.2947A>G (p.Ser983Gly)	BOD1L1 (S983G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2601752	NM_148894.3(BOD1L1):c.8909G>T (p.Arg2970Leu)	BOD1L1 (R2970L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599196	NM_148894.3(BOD1L1):c.1048A>G (p.Lys350Glu)	BOD1L1 (K350E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599145	NM_148894.3(BOD1L1):c.6985A>G (p.Ile2329Val)	BOD1L1 (I2329V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596257	NM_148894.3(BOD1L1):c.4619C>A (p.Thr1540Asn)	BOD1L1 (T1540N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595329	NM_148894.3(BOD1L1):c.5257C>T (p.Arg1753Cys)	BOD1L1 (R1753C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593936	NM_148894.3(BOD1L1):c.7837T>G (p.Trp2613Gly)	BOD1L1 (W2613G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593218	NM_148894.3(BOD1L1):c.7213G>A (p.Glu2405Lys)	BOD1L1 (E2405K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	POLN, ZNF518B +132 more	Copy number loss	not provided	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	ABLIM2, ACOX3 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2570208	NM_148894.3(BOD1L1):c.2968C>T (p.His990Tyr)	BOD1L1 (H990Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559757	NM_148894.3(BOD1L1):c.1052A>G (p.Lys351Arg)	BOD1L1 (K351R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2551517	NM_148894.3(BOD1L1):c.842G>A (p.Ser281Asn)	BOD1L1 (S281N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546978	NM_148894.3(BOD1L1):c.5149A>C (p.Met1717Leu)	BOD1L1 (M1717L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546918	NM_148894.3(BOD1L1):c.6763A>G (p.Ile2255Val)	BOD1L1 (I2255V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2542136	NM_148894.3(BOD1L1):c.2461C>T (p.Arg821Cys)	BOD1L1 (R821C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540230	NM_148894.3(BOD1L1):c.1297A>T (p.Met433Leu)	BOD1L1 (M433L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539415	NM_148894.3(BOD1L1):c.5885T>G (p.Val1962Gly)	BOD1L1 (V1962G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535264	NM_148894.3(BOD1L1):c.3562G>A (p.Gly1188Arg)	BOD1L1 (G1188R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533318	NM_148894.3(BOD1L1):c.9071G>A (p.Arg3024His)	BOD1L1 (R3024H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533194	NM_148894.3(BOD1L1):c.8943G>T (p.Lys2981Asn)	BOD1L1 (K2981N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531510	NM_148894.3(BOD1L1):c.5339C>T (p.Ser1780Phe)	BOD1L1 (S1780F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527546	NM_148894.3(BOD1L1):c.5891G>C (p.Gly1964Ala)	BOD1L1 (G1964A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527103	NM_148894.3(BOD1L1):c.6691G>C (p.Val2231Leu)	BOD1L1 (V2231L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526340	NM_148894.3(BOD1L1):c.2575C>G (p.Gln859Glu)	BOD1L1 (Q859E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526027	NM_148894.3(BOD1L1):c.2357A>G (p.Lys786Arg)	BOD1L1 (K786R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521244	NM_148894.3(BOD1L1):c.6832G>A (p.Asp2278Asn)	BOD1L1 (D2278N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518746	NM_148894.3(BOD1L1):c.1088A>T (p.Gln363Leu)	BOD1L1 (Q363L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517017	NM_148894.3(BOD1L1):c.3866T>C (p.Val1289Ala)	BOD1L1 (V1289A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2514703	NM_148894.3(BOD1L1):c.7636G>A (p.Val2546Met)	BOD1L1 (V2546M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510492	NM_148894.3(BOD1L1):c.8515A>G (p.Lys2839Glu)	BOD1L1 (K2839E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510461	NM_148894.3(BOD1L1):c.2809A>G (p.Thr937Ala)	BOD1L1 (T937A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2509569	NM_148894.3(BOD1L1):c.167T>C (p.Met56Thr)	BOD1L1 (M56T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493485	NM_148894.3(BOD1L1):c.493A>C (p.Lys165Gln)	BOD1L1 (K165Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492734	NM_148894.3(BOD1L1):c.3550G>C (p.Gly1184Arg)	BOD1L1 (G1184R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489190	NM_148894.3(BOD1L1):c.8492C>T (p.Thr2831Ile)	BOD1L1 (T2831I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488829	NM_148894.3(BOD1L1):c.4109A>C (p.His1370Pro)	BOD1L1 (H1370P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484624	NM_148894.3(BOD1L1):c.1694T>C (p.Val565Ala)	BOD1L1 (V565A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483417	NM_148894.3(BOD1L1):c.6582G>A (p.Met2194Ile)	BOD1L1 (M2194I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475053	NM_148894.3(BOD1L1):c.7570C>T (p.Arg2524Cys)	BOD1L1 (R2524C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472948	NM_148894.3(BOD1L1):c.8183T>C (p.Ile2728Thr)	BOD1L1 (I2728T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471619	NM_148894.3(BOD1L1):c.4517C>T (p.Ala1506Val)	BOD1L1 (A1506V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471046	NM_148894.3(BOD1L1):c.8327A>T (p.His2776Leu)	BOD1L1 (H2776L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469825	NM_148894.3(BOD1L1):c.3553C>T (p.Arg1185Cys)	BOD1L1 (R1185C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469382	NM_148894.3(BOD1L1):c.1895G>A (p.Arg632Gln)	BOD1L1 (R632Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468954	NM_148894.3(BOD1L1):c.5248C>T (p.Arg1750Trp)	BOD1L1 (R1750W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464595	NM_148894.3(BOD1L1):c.6197A>C (p.Asn2066Thr)	BOD1L1 (N2066T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464372	NM_148894.3(BOD1L1):c.4355C>A (p.Ala1452Asp)	BOD1L1 (A1452D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462420	NM_148894.3(BOD1L1):c.7774G>A (p.Val2592Ile)	BOD1L1 (V2592I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460750	NM_148894.3(BOD1L1):c.1888C>A (p.Pro630Thr)	BOD1L1 (P630T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459332	NM_148894.3(BOD1L1):c.8834G>A (p.Arg2945His)	BOD1L1 (R2945H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455879	NM_148894.3(BOD1L1):c.2693G>A (p.Arg898Gln)	BOD1L1 (R898Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454791	NM_148894.3(BOD1L1):c.2331A>T (p.Gln777His)	BOD1L1 (Q777H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 2412228	NM_148894.3(BOD1L1):c.514A>G (p.Thr172Ala)	BOD1L1 (T172A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412112	NM_148894.3(BOD1L1):c.1945A>G (p.Lys649Glu)	BOD1L1 (K649E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411709	NM_148894.3(BOD1L1):c.5833G>C (p.Asp1945His)	BOD1L1 (D1945H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405462	NM_148894.3(BOD1L1):c.3955C>T (p.Pro1319Ser)	BOD1L1 (P1319S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404136	NM_148894.3(BOD1L1):c.4801G>A (p.Ala1601Thr)	BOD1L1 (A1601T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402401	NM_148894.3(BOD1L1):c.7093G>C (p.Ala2365Pro)	BOD1L1 (A2365P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400561	NM_148894.3(BOD1L1):c.4114G>C (p.Ala1372Pro)	BOD1L1 (A1372P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392091	NM_148894.3(BOD1L1):c.8414C>T (p.Thr2805Met)	BOD1L1 (T2805M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390638	NM_148894.3(BOD1L1):c.4427G>C (p.Arg1476Thr)	BOD1L1 (R1476T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389688	NM_148894.3(BOD1L1):c.538G>A (p.Asp180Asn)	BOD1L1, LOC129992268 (D180N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388837	NM_148894.3(BOD1L1):c.5027G>A (p.Gly1676Glu)	BOD1L1 (G1676E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385473	NM_148894.3(BOD1L1):c.7676C>T (p.Ser2559Phe)	BOD1L1 (S2559F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384925	NM_148894.3(BOD1L1):c.2917G>A (p.Val973Ile)	BOD1L1 (V973I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384484	NM_148894.3(BOD1L1):c.104G>T (p.Gly35Val)	BOD1L1 (G35V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383018	NM_148894.3(BOD1L1):c.8542A>G (p.Thr2848Ala)	BOD1L1 (T2848A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2381525	NM_148894.3(BOD1L1):c.4606G>A (p.Gly1536Arg)	BOD1L1 (G1536R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379729	NM_148894.3(BOD1L1):c.4257G>C (p.Glu1419Asp)	BOD1L1 (E1419D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377718	NM_148894.3(BOD1L1):c.3935G>A (p.Gly1312Asp)	BOD1L1 (G1312D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376769	NM_148894.3(BOD1L1):c.53C>T (p.Pro18Leu)	BOD1L1 (P18L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376668	NM_148894.3(BOD1L1):c.8494A>T (p.Thr2832Ser)	BOD1L1 (T2832S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376514	NM_148894.3(BOD1L1):c.2489G>A (p.Arg830His)	BOD1L1 (R830H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2373699	NM_148894.3(BOD1L1):c.5291A>G (p.Asp1764Gly)	BOD1L1 (D1764G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370024	NM_148894.3(BOD1L1):c.7594G>A (p.Gly2532Ser)	BOD1L1 (G2532S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360516	NM_148894.3(BOD1L1):c.6313A>G (p.Met2105Val)	BOD1L1 (M2105V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359866	NM_148894.3(BOD1L1):c.2797A>G (p.Thr933Ala)	BOD1L1 (T933A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357951	NM_148894.3(BOD1L1):c.1277A>G (p.Glu426Gly)	BOD1L1 (E426G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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