UNC79[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 207

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 3076491	NM_182971.3(COX8C):c.14G>A (p.Arg5His)	COX8C, UNC79 (R5H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288717	NM_182971.3(COX8C):c.28G>T (p.Ala10Ser)	COX8C, UNC79 (A10S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269064	NM_182971.3(COX8C):c.31C>T (p.Arg11Cys)	COX8C, UNC79 (R11C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269063	NM_182971.3(COX8C):c.41A>G (p.Tyr14Cys)	COX8C, UNC79 (Y14C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370991	NM_182971.3(COX8C):c.158C>T (p.Thr53Met)	COX8C, UNC79 (T53M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2260440	NM_182971.3(COX8C):c.202C>A (p.Gln68Lys)	COX8C, UNC79 (Q68K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3347965	NM_001395159.1(UNC79):c.23-6A>C	UNC79	Single nucleotide variant (intron variant)	UNC79-related disorder	GLikely benign
Select item 3365491	NM_001395159.1(UNC79):c.23-2A>G	UNC79	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3046520	NM_001395159.1(UNC79):c.23-2A>T	UNC79	Single nucleotide variant (splice acceptor variant)	UNC79-related disorder	GLikely benign
Select item 3046578	NM_001395159.1(UNC79):c.23-1G>T	UNC79	Single nucleotide variant (splice acceptor variant)	UNC79-related disorder	GLikely benign
Select item 3061282	NM_001395159.1(UNC79):c.103A>T (p.Ile35Phe)	UNC79 (I35F)	Single nucleotide variant (missense variant +1 more)	UNC79-related disorder	GUncertain significance
Select item 3356455	NM_001395159.1(UNC79):c.328C>T (p.Arg110Cys)	UNC79 (R110C)	Single nucleotide variant (missense variant +1 more)	UNC79-related disorder	GLikely benign
Select item 3054025	NM_001395159.1(UNC79):c.328C>A (p.Arg110Ser)	UNC79 (R110S)	Single nucleotide variant (missense variant +1 more)	UNC79-related disorder	GLikely benign
Select item 3186665	NM_001395159.1(UNC79):c.574G>A (p.Asp192Asn)	UNC79 (D192N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186672	NM_001395159.1(UNC79):c.585A>C (p.Glu195Asp)	UNC79 (E18D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374672	NM_001395159.1(UNC79):c.660C>G (p.Asn220Lys)	UNC79 (N220K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3363455	NM_001395159.1(UNC79):c.754C>T (p.Gln252Ter)	UNC79 (Q252* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2511695	NM_001395159.1(UNC79):c.796C>T (p.Pro266Ser)	UNC79 (P89S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237092	NM_001395159.1(UNC79):c.992C>T (p.Ala331Val)	UNC79 (A331V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3031182	NM_001395159.1(UNC79):c.1052+2T>A	UNC79	Single nucleotide variant (splice donor variant)	UNC79-related disorder	GUncertain significance
Select item 3186675	NM_001395159.1(UNC79):c.1108A>G (p.Ile370Val)	UNC79 (I193V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574551	NM_001395159.1(UNC79):c.1117A>T (p.Lys373Ter)	UNC79 (K196* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2236336	NM_001395159.1(UNC79):c.1183C>T (p.Arg395Cys)	UNC79 (R395C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333887	NM_001395159.1(UNC79):c.1204C>T (p.Arg402Trp)	UNC79 (R225W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3371782	NM_001395159.1(UNC79):c.1233T>G (p.His411Gln)	UNC79 (H234Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3186677	NM_001395159.1(UNC79):c.1259C>T (p.Ala420Val)	UNC79 (A420V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3368694	NM_001395159.1(UNC79):c.1351A>G (p.Ser451Gly)	UNC79 (S274G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3041972	NM_001395159.1(UNC79):c.1369G>C (p.Glu457Gln)	UNC79 (E280Q +1 more)	Single nucleotide variant (missense variant)	UNC79-related disorder	GLikely benign
Select item 3186678	NM_001395159.1(UNC79):c.1408C>T (p.Arg470Trp)	UNC79 (R293W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212350	NM_001395159.1(UNC79):c.1559C>T (p.Thr520Ile)	UNC79 (T343I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2575680	NM_001395159.1(UNC79):c.1583C>T (p.Ala528Val)	UNC79 (A351V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2524784	NM_001395159.1(UNC79):c.1588G>A (p.Val530Met)	UNC79 (V530M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314160	NM_001395159.1(UNC79):c.1637G>C (p.Gly546Ala)	UNC79 (G369A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559047	NM_001395159.1(UNC79):c.1661C>G (p.Pro554Arg)	UNC79 (P377R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541693	NM_001395159.1(UNC79):c.1720A>G (p.Met574Val)	UNC79 (M574V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204165	NM_001395159.1(UNC79):c.1741A>G (p.Met581Val)	UNC79 (M404V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3347268	NM_001395159.1(UNC79):c.2066T>G (p.Leu689Arg)	UNC79 (L512R +1 more)	Single nucleotide variant (missense variant)	UNC79-related disorder	GUncertain significance
Select item 2571821	NM_001395159.1(UNC79):c.2078C>A (p.Ser693Ter)	UNC79 (S516* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2383158	NM_001395159.1(UNC79):c.2078C>T (p.Ser693Leu)	UNC79 (S516L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211617	NM_001395159.1(UNC79):c.2088T>G (p.Asp696Glu)	UNC79 (D519E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454832	NM_001395159.1(UNC79):c.2155G>T (p.Ala719Ser)	UNC79 (A542S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233386	NM_001395159.1(UNC79):c.2207G>A (p.Arg736Gln)	UNC79 (R736Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211909	NM_001395159.1(UNC79):c.2237G>A (p.Arg746Gln)	UNC79 (R569Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221737	NM_001395159.1(UNC79):c.2306G>A (p.Arg769His)	UNC79 (R592H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343609	NM_001395159.1(UNC79):c.2318G>A (p.Arg773His)	UNC79 (R773H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186649	NM_001395159.1(UNC79):c.2388G>T (p.Met796Ile)	UNC79 (M796I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2692496	NM_001395159.1(UNC79):c.2443C>T (p.Gln815Ter)	UNC79 (Q638* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2594722	NM_001395159.1(UNC79):c.2459C>T (p.Thr820Met)	UNC79 (T820M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357781	NM_001395159.1(UNC79):c.2462T>C (p.Met821Thr)	UNC79 (M644T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3338516	NM_001395159.1(UNC79):c.2531G>A (p.Gly844Glu)	UNC79 (G667E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2288658	NM_001395159.1(UNC79):c.2552A>C (p.Lys851Thr)	UNC79 (K674T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359534	NM_001395159.1(UNC79):c.2557G>A (p.Glu853Lys)	UNC79 (E853K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291721	NM_001395159.1(UNC79):c.2566A>G (p.Ile856Val)	UNC79 (I679V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217951	NM_001395159.1(UNC79):c.2569G>A (p.Glu857Lys)	UNC79 (E857K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186650	NM_001395159.1(UNC79):c.2593A>G (p.Ile865Val)	UNC79 (I688V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351545	NM_001395159.1(UNC79):c.2666C>T (p.Pro889Leu)	UNC79 (P712L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3367859	NM_001395159.1(UNC79):c.2721_2724del (p.Pro908fs)	UNC79 (P731fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2575839	NM_001395159.1(UNC79):c.2731dup (p.Glu911fs)	UNC79 (E734fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3331079	NM_001395159.1(UNC79):c.2762G>A (p.Gly921Glu)	UNC79 (G744E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186651	NM_001395159.1(UNC79):c.2766G>T (p.Glu922Asp)	UNC79 (E745D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496061	NM_001395159.1(UNC79):c.2787G>T (p.Glu929Asp)	UNC79 (E929D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186652	NM_001395159.1(UNC79):c.2867T>C (p.Ile956Thr)	UNC79 (I779T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3372497	NM_001395159.1(UNC79):c.2905C>T (p.Pro969Ser)	UNC79 (P792S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2600239	NM_001395159.1(UNC79):c.2950C>G (p.Leu984Val)	UNC79 (L807V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186653	NM_001395159.1(UNC79):c.3005A>G (p.Tyr1002Cys)	UNC79 (Y1002C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186654	NM_001395159.1(UNC79):c.3013G>A (p.Asp1005Asn)	UNC79 (D828N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331084	NM_001395159.1(UNC79):c.3149G>A (p.Gly1050Asp)	UNC79 (G873D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614949	NM_001395159.1(UNC79):c.3227T>G (p.Ile1076Ser)	UNC79 (I1076S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331080	NM_001395159.1(UNC79):c.3239C>T (p.Thr1080Ile)	UNC79 (T903I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186655	NM_001395159.1(UNC79):c.3584C>T (p.Ala1195Val)	UNC79 (A1195V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3371312	NM_001395159.1(UNC79):c.3607C>G (p.Leu1203Val)	UNC79 (L1026V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364787	NM_001395159.1(UNC79):c.3623T>C (p.Leu1208Ser)	UNC79 (L1031S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3186656	NM_001395159.1(UNC79):c.3658C>T (p.Arg1220Cys)	UNC79 (R1220C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056729	NM_001395159.1(UNC79):c.3678C>T (p.Ser1226=)	UNC79	Single nucleotide variant (synonymous variant)	UNC79-related disorder	GBenign
Select item 3186658	NM_001395159.1(UNC79):c.3682A>T (p.Arg1228Trp)	UNC79 (R1228W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331083	NM_001395159.1(UNC79):c.3685G>T (p.Asp1229Tyr)	UNC79 (D1052Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3368084	NM_001395159.1(UNC79):c.3713A>G (p.Lys1238Arg)	UNC79 (K1061R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3186659	NM_001395159.1(UNC79):c.3743C>T (p.Thr1248Ile)	UNC79 (T1071I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2644477	NM_001395159.1(UNC79):c.3828A>G (p.Gln1276=)	UNC79	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636036	NM_001395159.1(UNC79):c.3832C>T (p.Pro1278Ser)	UNC79 (P1079S +2 more)	Single nucleotide variant (missense variant)	UNC79-related disorder	GUncertain significance
Select item 3364492	NM_001395159.1(UNC79):c.3865C>G (p.Pro1289Ala)	UNC79 (P1090A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3331075	NM_001395159.1(UNC79):c.3874G>A (p.Ala1292Thr)	UNC79 (A1292T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594779	NM_001395159.1(UNC79):c.3958G>A (p.Asp1320Asn)	UNC79 (D1298N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3364901	NM_001395159.1(UNC79):c.3994C>T (p.Arg1332Ter)	UNC79 (R1133* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3351389	NM_001395159.1(UNC79):c.4026G>A (p.Gln1342=)	UNC79	Single nucleotide variant (synonymous variant)	UNC79-related disorder	GLikely benign
Select item 2489759	NM_001395159.1(UNC79):c.4044G>A (p.Met1348Ile)	UNC79 (M1348I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507679	NM_001395159.1(UNC79):c.4046T>C (p.Ile1349Thr)	UNC79 (I1150T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3364194	NM_001395159.1(UNC79):c.4064G>A (p.Arg1355His)	UNC79 (R1156H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253123	NM_001395159.1(UNC79):c.4099A>G (p.Ile1367Val)	UNC79 (I1168V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3186660	NM_001395159.1(UNC79):c.4217G>T (p.Arg1406Leu)	UNC79 (R1406L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3366136	NM_001395159.1(UNC79):c.4379G>T (p.Cys1460Phe)	UNC79 (C1261F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 161738	NM_001395159.1(UNC79):c.4394C>T (p.Thr1465Met)	UNC79 (T1266M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 3