ClinVar for Gene (Select 153733) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 2606026	NM_001040440.3(CCDC112):c.1360C>A (p.Leu454Ile)	CCDC112 (L371I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569173	NM_001040440.3(CCDC112):c.1535A>G (p.His512Arg)	CCDC112 (H397R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556851	NM_001040440.3(CCDC112):c.1013A>G (p.Asn338Ser)	CCDC112 (N255S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545697	NM_001040440.3(CCDC112):c.154C>T (p.Pro52Ser)	CCDC112 (P52S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2515447	NM_001040440.3(CCDC112):c.251T>A (p.Met84Lys)	CCDC112 (M1K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514407	NM_001040440.3(CCDC112):c.202G>C (p.Ala68Pro)	CCDC112 (A68P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2489950	NM_001040440.3(CCDC112):c.956G>A (p.Arg319Lys)	CCDC112 (R236K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2468417	NM_001040440.3(CCDC112):c.895G>T (p.Ala299Ser)	CCDC112 (A216S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466339	NM_001040440.3(CCDC112):c.771C>G (p.Asn257Lys)	CCDC112 (N257K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464567	NM_001040440.3(CCDC112):c.1111A>G (p.Met371Val)	CCDC112 (M288V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405400	NM_001040440.3(CCDC112):c.568G>C (p.Glu190Gln)	CCDC112 (E107Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375495	NM_001040440.3(CCDC112):c.1363G>A (p.Asp455Asn)	CCDC112 (D372N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350769	NM_001040440.3(CCDC112):c.340A>T (p.Ile114Phe)	CCDC112 (I31F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341528	NM_001040440.3(CCDC112):c.752A>T (p.Asp251Val)	CCDC112 (D168V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333264	NM_001040440.3(CCDC112):c.193A>T (p.Thr65Ser)	CCDC112 (T65S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2327080	NM_001040440.3(CCDC112):c.682A>T (p.Thr228Ser)	CCDC112 (T145S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315502	NM_001040440.3(CCDC112):c.281A>G (p.Asn94Ser)	CCDC112 (N94S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288967	NM_001040440.3(CCDC112):c.727A>T (p.Thr243Ser)	CCDC112 (T160S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277843	NM_001040440.3(CCDC112):c.661G>A (p.Val221Ile)	CCDC112 (V221I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257445	NM_001040440.3(CCDC112):c.1311A>T (p.Glu437Asp)	CCDC112 (E354D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235761	NM_001040440.3(CCDC112):c.1339C>A (p.His447Asn)	CCDC112 (H447N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234036	NM_001040440.3(CCDC112):c.1000G>A (p.Val334Met)	CCDC112 (V251M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2223254	NM_001040440.3(CCDC112):c.1108T>C (p.Ser370Pro)	CCDC112 (S370P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 788985	NM_001040440.3(CCDC112):c.558A>G (p.Thr186=)	CCDC112	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783443	NM_001040440.3(CCDC112):c.195T>A (p.Thr65=)	CCDC112	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 768026	NM_001040440.3(CCDC112):c.630A>G (p.Lys210=)	CCDC112	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 739607	NM_001040440.3(CCDC112):c.1203A>G (p.Leu401=)	CCDC112	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711929	NM_001040440.3(CCDC112):c.950A>G (p.Gln317Arg)	CCDC112 (Q234R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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	ARAP3, CCDC69 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +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	AP3S1, APC +41 more	Copy number loss	See cases	GPathogenic
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	ADAMTS19, ADAMTS19-AS1 +688 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	AP3S1, APC +340 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	EPB41L4A-AS1, EPB41L4A-DT +495 more	Copy number loss	See cases	GPathogenic
Select item 152168	GRCh38/hg38 5q22.2-23.1(chr5:112323517-117773507)x1	AP3S1, APC +119 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	ADGRV1, ALDH7A1 +682 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	ADAMTS19, ADAMTS19-AS1 +377 more	Copy number loss	See cases	GPathogenic
Select item 146399	GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1	LOC129994315, LOC129994316 +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

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Links from Gene

Items: 55