ClinVar for Gene (Select 644100) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315031	NM_001195581.2(ARL14EPL):c.166C>A (p.Pro56Thr)	ARL14EPL (P56T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315026	NM_001195581.2(ARL14EPL):c.73T>A (p.Cys25Ser)	ARL14EPL (C25S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129539	NM_001195581.2(ARL14EPL):c.434C>T (p.Thr145Met)	ARL14EPL (T145M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129537	NM_001195581.2(ARL14EPL):c.256A>G (p.Lys86Glu)	ARL14EPL (K86E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 3024636	GRCh37/hg19 5q23.1(chr5:115387163-115469875)x1	ARL14EPL, COMMD10	Copy number loss	not provided	GUncertain significance
Select item 2606470	NM_001195581.2(ARL14EPL):c.212A>G (p.Asn71Ser)	ARL14EPL (N71S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595818	NM_001195581.2(ARL14EPL):c.237A>G (p.Lys79=)	ARL14EPL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2532084	NM_001195581.2(ARL14EPL):c.40A>G (p.Arg14Gly)	ARL14EPL (R14G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2518810	NM_001195581.2(ARL14EPL):c.107A>G (p.Glu36Gly)	ARL14EPL (E36G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473694	NM_001195581.2(ARL14EPL):c.295G>A (p.Asp99Asn)	ARL14EPL (D33N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465857	NM_001195581.2(ARL14EPL):c.383G>A (p.Arg128Gln)	ARL14EPL (R128Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465856	NM_001195581.2(ARL14EPL):c.32T>C (p.Ile11Thr)	ARL14EPL (I11T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2376350	NM_001195581.2(ARL14EPL):c.106G>C (p.Glu36Gln)	ARL14EPL (E36Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351308	NM_001195581.2(ARL14EPL):c.16G>A (p.Glu6Lys)	ARL14EPL (E6K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313963	NM_001195581.2(ARL14EPL):c.354C>A (p.Asn118Lys)	ARL14EPL (N118K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309240	NM_001195581.2(ARL14EPL):c.353A>G (p.Asn118Ser)	ARL14EPL (N118S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277795	NM_001195581.2(ARL14EPL):c.192A>T (p.Lys64Asn)	ARL14EPL (K64N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258604	NM_001195581.2(ARL14EPL):c.440C>T (p.Pro147Leu)	ARL14EPL (P147L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237362	NM_001195581.2(ARL14EPL):c.209T>C (p.Met70Thr)	ARL14EPL (M4T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236689	NM_001195581.2(ARL14EPL):c.369G>C (p.Glu123Asp)	ARL14EPL (E57D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809359	GRCh37/hg19 5q22.2-23.3(chr5:112557391-128106299)x1	ALDH7A1, AP3S1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1527186	GRCh37/hg19 5q22.1-23.1(chr5:111443783-116255660)	AP3S1, APC +21 more	Copy number loss	not specified	GPathogenic
Select item 1527183	GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	CAMK4, CCDC112 +60 more	Copy number loss	not specified	GPathogenic
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 685538	GRCh37/hg19 5q21.3-23.1(chr5:108304806-121335239)x1	AP3S1, APC +39 more	Copy number loss	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 545308	Single allele	AP3S1, ARL14EPL +88 more	Duplication	Autism	GLikely pathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 395290	GRCh37/hg19 5q22.1-23.2(chr5:110407606-122522885)x1	TRIM36, TSLP +41 more	Copy number loss	See cases	GPathogenic
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 152168	GRCh38/hg38 5q22.2-23.1(chr5:112323517-117773507)x1	AP3S1, DCP2 +119 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 146399	GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1	AP3S1, APC +230 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 145546	GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1	AP3S1, ARL14EPL +228 more	Copy number loss	See cases	GPathogenic
Select item 144331	GRCh38/hg38 5q21.3-23.1(chr5:108585264-116815075)x1	AP3S1, APC +186 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 46