AP5M1[gene] - ClinVar

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Items: 48

	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 2244095	NM_018229.4(AP5M1):c.10C>T (p.Arg4Trp)	AP5M1 (R4W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301257	NM_018229.4(AP5M1):c.13G>A (p.Ala5Thr)	AP5M1 (A5T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249734	NM_018229.4(AP5M1):c.16G>C (p.Val6Leu)	AP5M1 (V6L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127574	NM_018229.4(AP5M1):c.30C>A (p.Ser10Arg)	AP5M1 (S10R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276707	NM_018229.4(AP5M1):c.127G>A (p.Val43Met)	AP5M1 (V43M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348856	NM_018229.4(AP5M1):c.227C>T (p.Ser76Leu)	AP5M1 (S76L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127573	NM_018229.4(AP5M1):c.229C>T (p.Arg77Cys)	AP5M1 (R77C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599053	NM_018229.4(AP5M1):c.230G>A (p.Arg77His)	AP5M1 (R77H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2367645	NM_018229.4(AP5M1):c.232A>G (p.Ile78Val)	AP5M1 (I78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206436	NM_018229.4(AP5M1):c.293C>G (p.Ala98Gly)	AP5M1 (A98G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127575	NM_018229.4(AP5M1):c.323G>A (p.Cys108Tyr)	AP5M1 (C108Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301253	NM_018229.4(AP5M1):c.350C>T (p.Ser117Phe)	AP5M1 (S117F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357134	NM_018229.4(AP5M1):c.356G>A (p.Arg119His)	AP5M1 (R119H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299840	NM_018229.4(AP5M1):c.373G>A (p.Val125Ile)	AP5M1 (V125I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3127576	NM_018229.4(AP5M1):c.434G>T (p.Gly145Val)	AP5M1 (G145V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204256	NM_018229.4(AP5M1):c.463A>G (p.Lys155Glu)	AP5M1 (K155E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301271	NM_018229.4(AP5M1):c.563C>A (p.Ser188Tyr)	AP5M1 (S188Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127577	NM_018229.4(AP5M1):c.580A>C (p.Lys194Gln)	AP5M1 (K194Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365455	NM_018229.4(AP5M1):c.665A>G (p.Tyr222Cys)	AP5M1 (Y222C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348248	NM_018229.4(AP5M1):c.986A>C (p.Lys329Thr)	AP5M1 (K329T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493759	NM_018229.4(AP5M1):c.1055A>C (p.Glu352Ala)	AP5M1 (E352A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127571	NM_018229.4(AP5M1):c.1065A>T (p.Glu355Asp)	AP5M1 (E355D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237844	NM_018229.4(AP5M1):c.1070A>G (p.His357Arg)	AP5M1 (H357R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301280	NM_018229.4(AP5M1):c.1148A>G (p.Glu383Gly)	AP5M1 (E383G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301264	NM_018229.4(AP5M1):c.1345C>T (p.His449Tyr)	AP5M1 (H449Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127572	NM_018229.4(AP5M1):c.1382T>C (p.Ile461Thr)	AP5M1 (I461T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341533	NM_018229.4(AP5M1):c.1393C>T (p.Arg465Trp)	AP5M1 (R465W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474030	NM_018229.4(AP5M1):c.1414T>A (p.Tyr472Asn)	AP5M1 (Y472N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492781	NM_018229.4(AP5M1):c.1432A>G (p.Lys478Glu)	AP5M1 (K478E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301252	NM_018229.4(AP5M1):c.1462T>G (p.Leu488Val)	AP5M1 (L488V)	Single nucleotide variant (missense variant +1 more)	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: 48