UNC5B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 153538	GRCh38/hg38 10q22.1(chr10:70596378-71288228)x3	ADAMTS14, LINC02622 +26 more	Copy number gain	See cases	GUncertain significance
Select item 154673	GRCh38/hg38 10q22.1(chr10:71169571-71556196)x1	CDH23, CDH23-AS1 +13 more	Copy number loss	See cases	GUncertain significance
Select item 155353	GRCh38/hg38 10q22.1(chr10:71211967-71614160)x1	CDH23, CDH23-AS1 +12 more	Copy number loss	See cases	GUncertain significance
Select item 2458992	NM_170744.5(UNC5B):c.23G>C (p.Arg8Pro)	UNC5B (R8P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266588	NM_170744.5(UNC5B):c.55T>A (p.Trp19Arg)	UNC5B (W19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331050	NM_170744.5(UNC5B):c.71G>C (p.Ser24Thr)	UNC5B (S24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300608	NM_170744.5(UNC5B):c.200T>A (p.Leu67His)	UNC5B (L67H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331051	NM_170744.5(UNC5B):c.202C>G (p.Arg68Gly)	UNC5B (R68G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540874	NM_170744.5(UNC5B):c.232T>C (p.Tyr78His)	UNC5B (Y78H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640564	NM_170744.5(UNC5B):c.267C>T (p.Asn89=)	UNC5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2326001	NM_170744.5(UNC5B):c.281A>G (p.Gln94Arg)	UNC5B (Q94R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613787	NM_170744.5(UNC5B):c.290T>C (p.Leu97Pro)	UNC5B (L97P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304708	NM_170744.5(UNC5B):c.308T>G (p.Leu103Arg)	UNC5B (L103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482541	NM_170744.5(UNC5B):c.316C>T (p.Arg106Cys)	UNC5B (R106C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514939	NM_170744.5(UNC5B):c.317G>A (p.Arg106His)	UNC5B (R106H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186604	NM_170744.5(UNC5B):c.327G>T (p.Gln109His)	UNC5B (Q109H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276497	NM_170744.5(UNC5B):c.333G>T (p.Glu111Asp)	UNC5B (E111D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297901	NM_170744.5(UNC5B):c.341G>A (p.Arg114Gln)	UNC5B (R114Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473264	NM_170744.5(UNC5B):c.388T>G (p.Cys130Gly)	UNC5B (C130G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562081	NM_170744.5(UNC5B):c.424C>T (p.Arg142Cys)	UNC5B (R142C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472692	NM_170744.5(UNC5B):c.436G>A (p.Val146Ile)	UNC5B (V146I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186606	NM_170744.5(UNC5B):c.524G>A (p.Arg175His)	UNC5B (R175H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472845	NM_170744.5(UNC5B):c.524G>T (p.Arg175Leu)	UNC5B (R175L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640565	NM_170744.5(UNC5B):c.558A>G (p.Glu186=)	UNC5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3186607	NM_170744.5(UNC5B):c.562C>G (p.Leu188Val)	UNC5B (L188V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261044	NM_170744.5(UNC5B):c.602A>G (p.Asn201Ser)	UNC5B (N201S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186608	NM_170744.5(UNC5B):c.619G>A (p.Asp207Asn)	UNC5B (D207N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217043	NM_170744.5(UNC5B):c.638G>A (p.Arg213His)	UNC5B (R213H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407830	NM_170744.5(UNC5B):c.688A>T (p.Ile230Phe)	UNC5B (I230F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294066	NM_170744.5(UNC5B):c.701G>A (p.Arg234His)	UNC5B (R234H)	Single nucleotide variant (missense variant)	Autism spectrum disorder +1 more	GConflicting classifications of pathogenicity
Select item 2210179	NM_170744.5(UNC5B):c.769C>A (p.Pro257Thr)	UNC5B (P257T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570372	NM_170744.5(UNC5B):c.791G>A (p.Arg264Gln)	UNC5B (R264Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260388	NM_170744.5(UNC5B):c.804G>T (p.Lys268Asn)	UNC5B (K268N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186609	NM_170744.5(UNC5B):c.841G>A (p.Gly281Arg)	UNC5B (G281R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486645	NM_170744.5(UNC5B):c.878C>A (p.Thr293Asn)	UNC5B (T293N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186610	NM_170744.5(UNC5B):c.911C>T (p.Ala304Val)	UNC5B (A304V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523022	NM_170744.5(UNC5B):c.964C>T (p.Arg322Cys)	UNC5B (R322C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409992	NM_170744.5(UNC5B):c.971G>A (p.Arg324His)	UNC5B (R324H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186613	NM_170744.5(UNC5B):c.988C>G (p.Pro330Ala)	UNC5B (P330A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323780	NM_170744.5(UNC5B):c.1022C>T (p.Thr341Met)	UNC5B (T341M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331053	NM_170744.5(UNC5B):c.1034C>G (p.Ser345Cys)	UNC5B (S345C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186585	NM_170744.5(UNC5B):c.1115G>A (p.Gly372Glu)	UNC5B (G372E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042585	NM_170744.5(UNC5B):c.1144G>A (p.Val382Met)	UNC5B (V371M +1 more)	Single nucleotide variant (missense variant)	UNC5B-related disorder	GLikely benign
Select item 2228082	NM_170744.5(UNC5B):c.1156G>A (p.Val386Met)	UNC5B (V386M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469628	NM_170744.5(UNC5B):c.1178C>T (p.Ala393Val)	UNC5B (A382V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3052209	NM_170744.5(UNC5B):c.1219G>A (p.Asp407Asn)	UNC5B (D396N +1 more)	Single nucleotide variant (missense variant)	UNC5B-related disorder	GLikely benign
Select item 2540275	NM_170744.5(UNC5B):c.1220A>C (p.Asp407Ala)	UNC5B (D407A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186586	NM_170744.5(UNC5B):c.1225G>T (p.Asp409Tyr)	UNC5B (D409Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615548	NM_170744.5(UNC5B):c.1268C>G (p.Pro423Arg)	UNC5B (P412R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557497	NM_170744.5(UNC5B):c.1285G>A (p.Ala429Thr)	UNC5B (A418T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360982	NM_170744.5(UNC5B):c.1301C>T (p.Pro434Leu)	UNC5B (P434L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270350	NM_170744.5(UNC5B):c.1337C>G (p.Thr446Arg)	UNC5B (T446R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304278	NM_170744.5(UNC5B):c.1345G>A (p.Ala449Thr)	UNC5B (A449T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186587	NM_170744.5(UNC5B):c.1357C>T (p.Arg453Cys)	UNC5B (R442C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186588	NM_170744.5(UNC5B):c.1379A>G (p.Gln460Arg)	UNC5B (Q449R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593262	NM_170744.5(UNC5B):c.1397T>A (p.Ile466Asn)	UNC5B (I455N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271109	NM_170744.5(UNC5B):c.1411T>G (p.Ser471Ala)	UNC5B (S460A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186590	NM_170744.5(UNC5B):c.1444G>A (p.Val482Ile)	UNC5B (V471I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2558342	NM_170744.5(UNC5B):c.1508T>C (p.Leu503Pro)	UNC5B (L492P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376938	NM_170744.5(UNC5B):c.1573C>T (p.Arg525Cys)	UNC5B (R514C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186591	NM_170744.5(UNC5B):c.1599G>C (p.Gln533His)	UNC5B (Q522H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510040	NM_170744.5(UNC5B):c.1604T>G (p.Leu535Trp)	UNC5B (L535W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255473	NM_170744.5(UNC5B):c.1618G>T (p.Asp540Tyr)	UNC5B (D529Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331055	NM_170744.5(UNC5B):c.1622C>T (p.Pro541Leu)	UNC5B (P530L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300365	NM_170744.5(UNC5B):c.1657G>A (p.Gly553Ser)	UNC5B (G553S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331052	NM_170744.5(UNC5B):c.1664G>C (p.Arg555Thr)	UNC5B (R544T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259968	NM_170744.5(UNC5B):c.1664G>A (p.Arg555Lys)	UNC5B (R555K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186592	NM_170744.5(UNC5B):c.1706A>G (p.Asn569Ser)	UNC5B (N558S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364291	NM_170744.5(UNC5B):c.1846C>T (p.Arg616Cys)	UNC5B (R605C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186594	NM_170744.5(UNC5B):c.1847G>A (p.Arg616His)	UNC5B (R605H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186595	NM_170744.5(UNC5B):c.1879G>A (p.Glu627Lys)	UNC5B (E627K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349410	NM_170744.5(UNC5B):c.2048C>T (p.Thr683Met)	UNC5B (T683M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361639	NM_170744.5(UNC5B):c.2066G>A (p.Arg689His)	UNC5B (R678H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186596	NM_170744.5(UNC5B):c.2081G>A (p.Arg694Gln)	UNC5B (R683Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186597	NM_170744.5(UNC5B):c.2095G>A (p.Val699Ile)	UNC5B (V688I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2455639	NM_170744.5(UNC5B):c.2110C>T (p.Leu704Phe)	UNC5B (L693F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186598	NM_170744.5(UNC5B):c.2174A>G (p.Lys725Arg)	UNC5B (K714R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402265	NM_170744.5(UNC5B):c.2194C>T (p.Arg732Trp)	UNC5B (R721W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409937	NM_170744.5(UNC5B):c.2195G>A (p.Arg732Gln)	UNC5B (R721Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597123	NM_170744.5(UNC5B):c.2206G>A (p.Gly736Arg)	UNC5B (G736R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640566	NM_170744.5(UNC5B):c.2215G>A (p.Val739Met)	UNC5B (V728M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3186599	NM_170744.5(UNC5B):c.2222A>G (p.Glu741Gly)	UNC5B (E730G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640567	NM_170744.5(UNC5B):c.2262G>T (p.Leu754=)	UNC5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3186600	NM_170744.5(UNC5B):c.2276A>G (p.His759Arg)	UNC5B (H759R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237222	NM_170744.5(UNC5B):c.2285C>G (p.Pro762Arg)	UNC5B (P762R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186601	NM_170744.5(UNC5B):c.2294A>G (p.His765Arg)	UNC5B (H754R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 504031	NM_170744.5(UNC5B):c.2334del (p.Phe779fs)	UNC5B (F768fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3347588	NM_170744.5(UNC5B):c.2351G>T (p.Ser784Ile)	UNC5B (S773I +1 more)	Single nucleotide variant (missense variant)	UNC5B-related disorder	GUncertain significance
Select item 2621671	NM_170744.5(UNC5B):c.2368C>T (p.Leu790Phe)	UNC5B (L779F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331056	NM_170744.5(UNC5B):c.2394G>T (p.Arg798Ser)	UNC5B (R798S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463414	NM_170744.5(UNC5B):c.2437C>T (p.Arg813Trp)	UNC5B (R802W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507503	NM_170744.5(UNC5B):c.2438G>A (p.Arg813Gln)	UNC5B (R813Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356077	NM_170744.5(UNC5B):c.2460G>C (p.Gln820His)	UNC5B (Q820H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788304	NM_170744.5(UNC5B):c.2475_2490+34del	UNC5B	Deletion (splice donor variant)	not provided	GBenign
Select item 2261355	NM_170744.5(UNC5B):c.2479A>G (p.Thr827Ala)	UNC5B (T827A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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