BOD1L1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	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 153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	ABLIM2, ACOX3 +365 more	Copy number loss	See cases	GPathogenic
Select item 626310	NC_000004.12:g.8398067_17505522inv	ACOX3, BOD1L1 +193 more	Inversion	Dihydropteridine reductase deficiency	GPathogenic
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 147370	GRCh38/hg38 4p15.33(chr4:11610765-13822432)x3	BOD1L1, LINC01096 +27 more	Copy number gain	See cases	GUncertain significance
Select item 149143	GRCh38/hg38 4p15.33(chr4:12959891-14417711)x3	BOD1L1, LINC01085 +24 more	Copy number gain	See cases	GUncertain significance
Select item 2292947	NM_148894.3(BOD1L1):c.9101G>A (p.Arg3034Gln)	BOD1L1 (R3034Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533318	NM_148894.3(BOD1L1):c.9071G>A (p.Arg3024His)	BOD1L1 (R3024H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533194	NM_148894.3(BOD1L1):c.8943G>T (p.Lys2981Asn)	BOD1L1 (K2981N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134751	NM_148894.3(BOD1L1):c.8928T>G (p.Asp2976Glu)	BOD1L1 (D2976E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2601752	NM_148894.3(BOD1L1):c.8909G>T (p.Arg2970Leu)	BOD1L1 (R2970L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134750	NM_148894.3(BOD1L1):c.8858G>A (p.Arg2953His)	BOD1L1 (R2953H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261324	NM_148894.3(BOD1L1):c.8837G>T (p.Arg2946Leu)	BOD1L1 (R2946L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459332	NM_148894.3(BOD1L1):c.8834G>A (p.Arg2945His)	BOD1L1 (R2945H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251918	NM_148894.3(BOD1L1):c.8807G>A (p.Gly2936Asp)	BOD1L1 (G2936D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328191	NM_148894.3(BOD1L1):c.8765A>C (p.Glu2922Ala)	BOD1L1 (E2922A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330779	NM_148894.3(BOD1L1):c.8761A>G (p.Lys2921Glu)	BOD1L1 (K2921E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261322	NM_148894.3(BOD1L1):c.8674G>A (p.Asp2892Asn)	BOD1L1 (D2892N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267998	NM_148894.3(BOD1L1):c.8554C>G (p.Pro2852Ala)	BOD1L1 (P2852A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383018	NM_148894.3(BOD1L1):c.8542A>G (p.Thr2848Ala)	BOD1L1 (T2848A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2324632	NM_148894.3(BOD1L1):c.8524T>C (p.Tyr2842His)	BOD1L1 (Y2842H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215090	NM_148894.3(BOD1L1):c.8519A>G (p.Asp2840Gly)	BOD1L1 (D2840G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510492	NM_148894.3(BOD1L1):c.8515A>G (p.Lys2839Glu)	BOD1L1 (K2839E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376668	NM_148894.3(BOD1L1):c.8494A>T (p.Thr2832Ser)	BOD1L1 (T2832S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489190	NM_148894.3(BOD1L1):c.8492C>T (p.Thr2831Ile)	BOD1L1 (T2831I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284293	NM_148894.3(BOD1L1):c.8465C>A (p.Pro2822His)	BOD1L1 (P2822H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134748	NM_148894.3(BOD1L1):c.8450A>T (p.Asp2817Val)	BOD1L1 (D2817V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392091	NM_148894.3(BOD1L1):c.8414C>T (p.Thr2805Met)	BOD1L1 (T2805M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471046	NM_148894.3(BOD1L1):c.8327A>T (p.His2776Leu)	BOD1L1 (H2776L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303183	NM_148894.3(BOD1L1):c.8294A>G (p.Glu2765Gly)	BOD1L1 (E2765G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2472948	NM_148894.3(BOD1L1):c.8183T>C (p.Ile2728Thr)	BOD1L1 (I2728T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261328	NM_148894.3(BOD1L1):c.8149G>T (p.Val2717Phe)	BOD1L1 (V2717F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268103	NM_148894.3(BOD1L1):c.7996C>G (p.Leu2666Val)	BOD1L1 (L2666V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134747	NM_148894.3(BOD1L1):c.7901A>C (p.Glu2634Ala)	BOD1L1 (E2634A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332377	NM_148894.3(BOD1L1):c.7891T>G (p.Ser2631Ala)	BOD1L1 (S2631A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238254	NM_148894.3(BOD1L1):c.7882A>C (p.Thr2628Pro)	BOD1L1 (T2628P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259418	NM_148894.3(BOD1L1):c.7858G>A (p.Glu2620Lys)	BOD1L1 (E2620K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593936	NM_148894.3(BOD1L1):c.7837T>G (p.Trp2613Gly)	BOD1L1 (W2613G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134746	NM_148894.3(BOD1L1):c.7796G>A (p.Cys2599Tyr)	BOD1L1 (C2599Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462420	NM_148894.3(BOD1L1):c.7774G>A (p.Val2592Ile)	BOD1L1 (V2592I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211432	NM_148894.3(BOD1L1):c.7774G>T (p.Val2592Leu)	BOD1L1 (V2592L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134745	NM_148894.3(BOD1L1):c.7741T>A (p.Ser2581Thr)	BOD1L1 (S2581T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385473	NM_148894.3(BOD1L1):c.7676C>T (p.Ser2559Phe)	BOD1L1 (S2559F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2514703	NM_148894.3(BOD1L1):c.7636G>A (p.Val2546Met)	BOD1L1 (V2546M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370024	NM_148894.3(BOD1L1):c.7594G>A (p.Gly2532Ser)	BOD1L1 (G2532S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654675	NM_148894.3(BOD1L1):c.7593C>T (p.Thr2531=)	BOD1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3134744	NM_148894.3(BOD1L1):c.7579G>A (p.Ala2527Thr)	BOD1L1 (A2527T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2475053	NM_148894.3(BOD1L1):c.7570C>T (p.Arg2524Cys)	BOD1L1 (R2524C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357607	NM_148894.3(BOD1L1):c.7445G>C (p.Gly2482Ala)	BOD1L1 (G2482A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261336	NM_148894.3(BOD1L1):c.7370T>C (p.Ile2457Thr)	BOD1L1 (I2457T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615292	NM_148894.3(BOD1L1):c.7354A>G (p.Ser2452Gly)	BOD1L1 (S2452G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593218	NM_148894.3(BOD1L1):c.7213G>A (p.Glu2405Lys)	BOD1L1 (E2405K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134743	NM_148894.3(BOD1L1):c.7123A>G (p.Met2375Val)	BOD1L1 (M2375V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402401	NM_148894.3(BOD1L1):c.7093G>C (p.Ala2365Pro)	BOD1L1 (A2365P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261323	NM_148894.3(BOD1L1):c.7045G>A (p.Glu2349Lys)	BOD1L1 (E2349K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134742	NM_148894.3(BOD1L1):c.7024G>T (p.Ala2342Ser)	BOD1L1 (A2342S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290699	NM_148894.3(BOD1L1):c.7018A>G (p.Ile2340Val)	BOD1L1 (I2340V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599145	NM_148894.3(BOD1L1):c.6985A>G (p.Ile2329Val)	BOD1L1 (I2329V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134741	NM_148894.3(BOD1L1):c.6976G>C (p.Asp2326His)	BOD1L1 (D2326H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355446	NM_148894.3(BOD1L1):c.6932A>G (p.Gln2311Arg)	BOD1L1 (Q2311R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521244	NM_148894.3(BOD1L1):c.6832G>A (p.Asp2278Asn)	BOD1L1 (D2278N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134740	NM_148894.3(BOD1L1):c.6818C>G (p.Pro2273Arg)	BOD1L1 (P2273R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134739	NM_148894.3(BOD1L1):c.6781G>A (p.Val2261Met)	BOD1L1 (V2261M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546918	NM_148894.3(BOD1L1):c.6763A>G (p.Ile2255Val)	BOD1L1 (I2255V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2277189	NM_148894.3(BOD1L1):c.6739A>G (p.Met2247Val)	BOD1L1 (M2247V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2527103	NM_148894.3(BOD1L1):c.6691G>C (p.Val2231Leu)	BOD1L1 (V2231L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261330	NM_148894.3(BOD1L1):c.6655A>G (p.Ile2219Val)	BOD1L1 (I2219V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134738	NM_148894.3(BOD1L1):c.6625A>G (p.Ser2209Gly)	BOD1L1 (S2209G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321600	NM_148894.3(BOD1L1):c.6602C>T (p.Ala2201Val)	BOD1L1 (A2201V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3134737	NM_148894.3(BOD1L1):c.6587G>A (p.Ser2196Asn)	BOD1L1 (S2196N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483417	NM_148894.3(BOD1L1):c.6582G>A (p.Met2194Ile)	BOD1L1 (M2194I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350912	NM_148894.3(BOD1L1):c.6457G>A (p.Glu2153Lys)	BOD1L1 (E2153K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360516	NM_148894.3(BOD1L1):c.6313A>G (p.Met2105Val)	BOD1L1 (M2105V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612945	NM_148894.3(BOD1L1):c.6296T>G (p.Leu2099Arg)	BOD1L1 (L2099R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3134736	NM_148894.3(BOD1L1):c.6292G>C (p.Ala2098Pro)	BOD1L1 (A2098P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134735	NM_148894.3(BOD1L1):c.6259G>A (p.Ala2087Thr)	BOD1L1 (A2087T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2464595	NM_148894.3(BOD1L1):c.6197A>C (p.Asn2066Thr)	BOD1L1 (N2066T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614711	NM_148894.3(BOD1L1):c.6125A>G (p.Glu2042Gly)	BOD1L1 (E2042G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304375	NM_148894.3(BOD1L1):c.6077C>G (p.Pro2026Arg)	BOD1L1 (P2026R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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