EXOC3L4[gene] - ClinVar - NCBI

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	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 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 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056535, LOC130056536 +671 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LOC130056672, LOC130056673 +667 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056604, LOC130056605 +654 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +632 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR493, MIR494 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	LOC130056480, LOC130056481 +571 more	Copy number loss	See cases	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	IGHV1-46, IGHV1-58 +561 more	Copy number loss	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	MIR6765, MIR8071-1 +441 more	Copy number loss	See cases	GPathogenic
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	ADSS1, AHNAK2 +416 more	Copy number loss	See cases	GPathogenic
Select item 57839	GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1	LOC105378183, LOC112163684 +164 more	Copy number loss	See cases	GPathogenic
Select item 153602	GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	ADSS1, AHNAK2 +397 more	Copy number loss	See cases	GPathogenic
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	LOC130056644, LOC130056645 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2429110	NC_000014.9:g.102573453_103575949del	AMN, BAG5 +87 more	Deletion	Mitochondrial complex 4 deficiency, nuclear type 17	GPathogenic
Select item 57840	GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1	ADSS1, AKT1 +177 more	Copy number loss	See cases	GPathogenic
Select item 155087	GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	ADSS1, AHNAK2 +367 more	Copy number loss	See cases	GPathogenic
Select item 147741	GRCh38/hg38 14q32.32-32.33(chr14:103003736-103557569)x1	TNFAIP2, TRMT61A +50 more	Copy number loss	See cases	GUncertain significance
Select item 3276785	NM_001077594.2(EXOC3L4):c.37C>A (p.Leu13Met)	EXOC3L4 (L13M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276790	NM_001077594.2(EXOC3L4):c.161G>A (p.Arg54Lys)	EXOC3L4 (R54K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458839	NM_001077594.2(EXOC3L4):c.254G>A (p.Arg85Gln)	EXOC3L4 (R85Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091103	NM_001077594.2(EXOC3L4):c.262C>T (p.Arg88Trp)	EXOC3L4 (R88W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276783	NM_001077594.2(EXOC3L4):c.278A>C (p.Asp93Ala)	EXOC3L4 (D93A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091104	NM_001077594.2(EXOC3L4):c.297T>G (p.His99Gln)	EXOC3L4 (H99Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3276788	NM_001077594.2(EXOC3L4):c.316G>A (p.Val106Met)	EXOC3L4 (V106M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276781	NM_001077594.2(EXOC3L4):c.325G>T (p.Gly109Trp)	EXOC3L4 (G109W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222188	NM_001077594.2(EXOC3L4):c.358A>G (p.Thr120Ala)	EXOC3L4 (T120A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276789	NM_001077594.2(EXOC3L4):c.418A>C (p.Ile140Leu)	EXOC3L4 (I140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606105	NM_001077594.2(EXOC3L4):c.478G>C (p.Val160Leu)	EXOC3L4 (V160L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297166	NM_001077594.2(EXOC3L4):c.527C>G (p.Ala176Gly)	EXOC3L4 (A176G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342328	NM_001077594.2(EXOC3L4):c.561C>G (p.Asp187Glu)	EXOC3L4 (D187E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2385055	NM_001077594.2(EXOC3L4):c.593G>T (p.Arg198Leu)	EXOC3L4 (R198L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411106	NM_001077594.2(EXOC3L4):c.647G>A (p.Arg216His)	EXOC3L4 (R216H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356171	NM_001077594.2(EXOC3L4):c.682C>A (p.Pro228Thr)	EXOC3L4 (P228T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1279821	NM_001077594.2(EXOC3L4):c.687C>G (p.Pro229=)	EXOC3L4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2344892	NM_001077594.2(EXOC3L4):c.689A>G (p.Asp230Gly)	EXOC3L4 (D230G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091105	NM_001077594.2(EXOC3L4):c.715C>A (p.Arg239Ser)	EXOC3L4 (R239S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091106	NM_001077594.2(EXOC3L4):c.736G>C (p.Glu246Gln)	EXOC3L4 (E246Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531895	NM_001077594.2(EXOC3L4):c.776G>T (p.Arg259Leu)	EXOC3L4 (R259L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481990	NM_001077594.2(EXOC3L4):c.817T>A (p.Ser273Thr)	EXOC3L4 (S273T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1266695	NM_001077594.2(EXOC3L4):c.889G>A (p.Val297Met)	EXOC3L4 (V297M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2237390	NM_001077594.2(EXOC3L4):c.918C>G (p.Phe306Leu)	EXOC3L4 (F306L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333565	NM_001077594.2(EXOC3L4):c.923C>T (p.Ala308Val)	EXOC3L4 (A308V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402434	NM_001077594.2(EXOC3L4):c.931G>A (p.Val311Ile)	EXOC3L4 (V311I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331791	NM_001077594.2(EXOC3L4):c.941G>A (p.Arg314His)	EXOC3L4 (R314H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491028	NM_001077594.2(EXOC3L4):c.946T>G (p.Phe316Val)	EXOC3L4 (F316V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561287	NM_001077594.2(EXOC3L4):c.968G>A (p.Arg323His)	EXOC3L4 (R323H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091107	NM_001077594.2(EXOC3L4):c.979C>T (p.Leu327Phe)	EXOC3L4 (L327F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251928	NM_001077594.2(EXOC3L4):c.1073G>A (p.Gly358Glu)	EXOC3L4 (G358E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1236643	NM_001077594.2(EXOC3L4):c.1126G>T (p.Ala376Ser)	EXOC3L4 (A376S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2223150	NM_001077594.2(EXOC3L4):c.1150A>C (p.Ser384Arg)	EXOC3L4 (S384R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091091	NM_001077594.2(EXOC3L4):c.1157T>C (p.Leu386Pro)	EXOC3L4 (L386P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552085	NM_001077594.2(EXOC3L4):c.1240C>A (p.Leu414Met)	EXOC3L4 (L414M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091092	NM_001077594.2(EXOC3L4):c.1252T>C (p.Tyr418His)	EXOC3L4 (Y418H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091093	NM_001077594.2(EXOC3L4):c.1276G>A (p.Val426Ile)	EXOC3L4 (V426I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091094	NM_001077594.2(EXOC3L4):c.1306G>A (p.Ala436Thr)	EXOC3L4 (A436T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296983	NM_001077594.2(EXOC3L4):c.1370G>A (p.Gly457Asp)	EXOC3L4 (G457D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091095	NM_001077594.2(EXOC3L4):c.1414G>C (p.Ala472Pro)	EXOC3L4 (A472P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276784	NM_001077594.2(EXOC3L4):c.1583C>T (p.Pro528Leu)	EXOC3L4 (P528L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091096	NM_001077594.2(EXOC3L4):c.1607G>A (p.Arg536Lys)	EXOC3L4 (R536K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2204590	NM_001077594.2(EXOC3L4):c.1634A>G (p.His545Arg)	EXOC3L4 (H545R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2218722	NM_001077594.2(EXOC3L4):c.1663G>A (p.Ala555Thr)	EXOC3L4 (A555T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2397440	NM_001077594.2(EXOC3L4):c.1687C>T (p.Arg563Trp)	EXOC3L4 (R563W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594764	NM_001077594.2(EXOC3L4):c.1694G>A (p.Arg565Gln)	EXOC3L4 (R565Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395694	NM_001077594.2(EXOC3L4):c.1729G>A (p.Val577Met)	EXOC3L4 (V577M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091097	NM_001077594.2(EXOC3L4):c.1772G>A (p.Arg591Gln)	EXOC3L4 (R591Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379578	NM_001077594.2(EXOC3L4):c.1777C>T (p.Arg593Trp)	EXOC3L4 (R593W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2283334	NM_001077594.2(EXOC3L4):c.1794G>T (p.Met598Ile)	EXOC3L4 (M598I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091099	NM_001077594.2(EXOC3L4):c.1848G>C (p.Gln616His)	EXOC3L4 (Q616H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393946	NM_001077594.2(EXOC3L4):c.1867A>G (p.Thr623Ala)	EXOC3L4 (T623A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569849	NM_001077594.2(EXOC3L4):c.1891T>C (p.Cys631Arg)	EXOC3L4 (C631R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344258	NM_001077594.2(EXOC3L4):c.1912G>A (p.Glu638Lys)	EXOC3L4 (E638K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272118	NM_001077594.2(EXOC3L4):c.1925A>G (p.Asp642Gly)	EXOC3L4 (D642G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219949	NM_001077594.2(EXOC3L4):c.1936C>T (p.Arg646Trp)	EXOC3L4 (R646W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621049	NM_001077594.2(EXOC3L4):c.2003C>A (p.Ala668Glu)	EXOC3L4 (A668E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283844	NM_001077594.2(EXOC3L4):c.2018G>C (p.Gly673Ala)	EXOC3L4 (G673A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226279	NM_001077594.2(EXOC3L4):c.2021G>A (p.Arg674His)	EXOC3L4 (R674H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206379	NM_001077594.2(EXOC3L4):c.2027G>A (p.Arg676Gln)	EXOC3L4 (R676Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535532	NM_001077594.2(EXOC3L4):c.2030A>C (p.Asn677Thr)	EXOC3L4 (N677T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091100	NM_001077594.2(EXOC3L4):c.2036A>G (p.His679Arg)	EXOC3L4 (H679R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2535443	NM_001077594.2(EXOC3L4):c.2054A>G (p.Gln685Arg)	EXOC3L4 (Q685R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353856	NM_001077594.2(EXOC3L4):c.2077G>A (p.Gly693Arg)	EXOC3L4 (G693R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276782	NM_001077594.2(EXOC3L4):c.2095G>A (p.Ala699Thr)	EXOC3L4 (A699T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091101	NM_001077594.2(EXOC3L4):c.2105G>A (p.Gly702Asp)	EXOC3L4 (G702D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091102	NM_001077594.2(EXOC3L4):c.2108G>T (p.Arg703Leu)	EXOC3L4 (R703L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531016	NM_001077594.2(EXOC3L4):c.2149G>A (p.Val717Met)	EXOC3L4 (V717M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244027	NC_000014.8:g.(?_102873655)_(105861009_?)del	ADSS1, AHNAK2 +40 more	Deletion	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 3242321	GRCh37/hg19 14q32.31-32.33(chr14:101522804-107289470)x1	ADSS1, AHNAK2 +70 more	Copy number loss	not provided	GPathogenic
Select item 3063327	GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1	CLBA1, COA8 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063318	GRCh37/hg19 14q32.2-32.32(chr14:97705251-103682578)x3	AMN, ANKRD9 +54 more	Copy number gain	not specified	GUncertain significance
Select item 2685500	GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1	IGHV3-23, INF2 +91 more	Copy number loss	not provided	GPathogenic
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic

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