ClinVar for Gene (Select 55745) - ClinVar

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

Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3301271	NM_018229.4(AP5M1):c.563C>A (p.Ser188Tyr)	AP5M1 (S188Y)	Single nucleotide variant (missense variant)	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 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 3301253	NM_018229.4(AP5M1):c.350C>T (p.Ser117Phe)	AP5M1 (S117F)	Single nucleotide variant (missense variant)	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 3127577	NM_018229.4(AP5M1):c.580A>C (p.Lys194Gln)	AP5M1 (K194Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3127575	NM_018229.4(AP5M1):c.323G>A (p.Cys108Tyr)	AP5M1 (C108Y)	Single nucleotide variant (missense variant)	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 3127573	NM_018229.4(AP5M1):c.229C>T (p.Arg77Cys)	AP5M1 (R77C)	Single nucleotide variant (missense variant)	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 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 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 2599053	NM_018229.4(AP5M1):c.230G>A (p.Arg77His)	AP5M1 (R77H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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 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 2367645	NM_018229.4(AP5M1):c.232A>G (p.Ile78Val)	AP5M1 (I78V)	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 2357134	NM_018229.4(AP5M1):c.356G>A (p.Arg119His)	AP5M1 (R119H)	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 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 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 2299840	NM_018229.4(AP5M1):c.373G>A (p.Val125Ile)	AP5M1 (V125I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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 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 2206436	NM_018229.4(AP5M1):c.293C>G (p.Ala98Gly)	AP5M1 (A98G)	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 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
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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 48