EXOC5[gene] - ClinVar

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Items: 46

	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 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 155334	GRCh38/hg38 14q22.3-23.1(chr14:57121531-58028799)x1	AP5M1, ARMH4 +9 more	Copy number loss	See cases	GUncertain significance
Select item 2568738	NM_006544.4(EXOC5):c.2069C>T (p.Ser690Phe)	EXOC5 (S690F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468660	NM_006544.4(EXOC5):c.1978C>G (p.Leu660Val)	EXOC5 (L660V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595446	NM_006544.4(EXOC5):c.1945A>G (p.Met649Val)	EXOC5 (M649V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276800	NM_006544.4(EXOC5):c.1909G>A (p.Glu637Lys)	EXOC5 (E637K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392741	NM_006544.4(EXOC5):c.1844A>G (p.Tyr615Cys)	EXOC5 (Y615C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206486	NM_006544.4(EXOC5):c.1840A>G (p.Ile614Val)	EXOC5 (I614V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276799	NM_006544.4(EXOC5):c.1756C>G (p.Gln586Glu)	EXOC5 (Q586E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091129	NM_006544.4(EXOC5):c.1735G>A (p.Val579Ile)	EXOC5 (V579I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328664	NM_006544.4(EXOC5):c.1730T>G (p.Val577Gly)	EXOC5 (V577G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257258	NM_006544.4(EXOC5):c.1670A>G (p.Lys557Arg)	EXOC5 (K557R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337256	NM_006544.4(EXOC5):c.1474A>G (p.Ile492Val)	EXOC5 (I492V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476141	NM_006544.4(EXOC5):c.1325A>G (p.Asn442Ser)	EXOC5 (N442S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325034	NM_006544.4(EXOC5):c.1210G>A (p.Asp404Asn)	EXOC5 (D404N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091128	NM_006544.4(EXOC5):c.1207A>G (p.Ile403Val)	EXOC5 (I403V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320861	NM_006544.4(EXOC5):c.1136T>C (p.Ile379Thr)	EXOC5 (I379T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276801	NM_006544.4(EXOC5):c.940A>G (p.Thr314Ala)	EXOC5 (T314A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339948	NM_006544.4(EXOC5):c.896A>T (p.Asp299Val)	EXOC5 (D299V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374368	NM_006544.4(EXOC5):c.895G>A (p.Asp299Asn)	EXOC5 (D299N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385029	NM_006544.4(EXOC5):c.737T>C (p.Ile246Thr)	EXOC5 (I246T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349295	NM_006544.4(EXOC5):c.736A>G (p.Ile246Val)	EXOC5 (I246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217912	NM_006544.4(EXOC5):c.734A>C (p.Asp245Ala)	EXOC5 (D245A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291877	NM_006544.4(EXOC5):c.635T>G (p.Met212Arg)	EXOC5 (M212R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276802	NM_006544.4(EXOC5):c.468A>G (p.Ile156Met)	EXOC5 (I156M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091131	NM_006544.4(EXOC5):c.454A>G (p.Asn152Asp)	EXOC5 (N152D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091130	NM_006544.4(EXOC5):c.404A>C (p.Lys135Thr)	EXOC5 (K135T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276798	NM_006544.4(EXOC5):c.376C>T (p.Arg126Trp)	EXOC5 (R126W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091127	NM_006544.4(EXOC5):c.107C>T (p.Ala36Val)	EXOC5 (A36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091132	NM_006544.4(EXOC5):c.58C>T (p.Arg20Cys)	EXOC5 (R20C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063329	GRCh37/hg19 14q22.3(chr14:56232969-57784632)x3	AP5M1, EXOC5 +3 more	Copy number gain	not specified	GUncertain significance
Select item 2685487	GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1	HIF1A, HIF1A-AS2 +47 more	Copy number loss	not provided	GPathogenic
Select item 2684727	GRCh37/hg19 14q22.3(chr14:57618531-58064442)x3	AP5M1, CCDC198 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2578725	GRCh37/hg19 14q22.3-23.1(chr14:57675327-59806898)x1	DAAM1, ACTR10 +12 more	Copy number loss	not provided	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1527819	GRCh37/hg19 14q22.3(chr14:56226305-57784632)	AP5M1, EXOC5 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 815660	GRCh37/hg19 14q22.3-23.1(chr14:56605398-59404256)x1	ACTR10, AP5M1 +14 more	Copy number loss	not provided	GPathogenic
Select item 815659	GRCh37/hg19 14q22.3(chr14:55615073-58043694)x1	ATG14, FBXO34 +11 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394770	GRCh37/hg19 14q22.3(chr14:56559797-58063452)x1	AP5M1, CCDC198 +6 more	Copy number loss	See cases	GLikely pathogenic

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Items: 46