ClinVar for Gene (Select 257236) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3266406	NM_153376.3(CFAP184):c.1096G>A (p.Asp366Asn)	CFAP184, LOC100129931 (D366N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266405	NM_153376.3(CFAP184):c.1337T>G (p.Val446Gly)	CFAP184, LOC100129931 (V446G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246741	NC_000004.11:g.(?_2357152)_(15176083_?)del	ABLIM2, ACOX3 +83 more	Deletion	not provided	GPathogenic
Select item 3235351	NM_153376.3(CFAP184):c.682C>T (p.Leu228Phe)	CFAP184, LOC100129931 (L228F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235349	NM_153376.3(CFAP184):c.524C>G (p.Thr175Arg)	CFAP184, LOC100129931 (T175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235348	NM_153376.3(CFAP184):c.517G>A (p.Glu173Lys)	CFAP184, LOC100129931 (E173K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235347	NM_153376.3(CFAP184):c.476A>G (p.Glu159Gly)	CFAP184, LOC100129931 (E159G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235346	NM_153376.3(CFAP184):c.321G>T (p.Glu107Asp)	CFAP184, LOC100129931 (E107D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235345	NM_153376.3(CFAP184):c.313G>A (p.Ala105Thr)	CFAP184, LOC100129931 (A105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235344	NM_153376.3(CFAP184):c.1597G>A (p.Ala533Thr)	CFAP184, LOC100129931 (A533T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235342	NM_153376.3(CFAP184):c.1469C>T (p.Thr490Met)	CFAP184, LOC100129931 (T490M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235340	NM_153376.3(CFAP184):c.1112A>T (p.Glu371Val)	CFAP184, LOC100129931 (E371V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MSANTD1, MSX1 +117 more	Copy number loss	not provided	GPathogenic
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2613034	NM_153376.3(CFAP184):c.1046G>C (p.Gly349Ala)	CFAP184, LOC100129931 (G349A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	USP17L24, USP17L25 +132 more	Copy number loss	not provided	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2570566	NM_153376.3(CFAP184):c.535G>A (p.Gly179Ser)	CFAP184, LOC100129931 (G179S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2532722	NM_153376.3(CFAP184):c.377C>T (p.Ala126Val)	CFAP184, LOC100129931 (A126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513583	NM_153376.3(CFAP184):c.554G>A (p.Arg185Lys)	CFAP184, LOC100129931 (R185K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492998	NM_153376.3(CFAP184):c.1530C>G (p.Asp510Glu)	CFAP184, LOC100129931 (D510E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486219	NM_153376.3(CFAP184):c.784G>A (p.Gly262Ser)	CFAP184, LOC100129931 (G262S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484090	NM_153376.3(CFAP184):c.1444A>C (p.Lys482Gln)	CFAP184, LOC100129931 (K482Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472616	NM_153376.3(CFAP184):c.174G>T (p.Gln58His)	CFAP184, LOC100129931 +1 more (Q58H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470331	NM_153376.3(CFAP184):c.478G>A (p.Ala160Thr)	LOC100129931, CFAP184 (A160T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469694	NM_153376.3(CFAP184):c.1220A>G (p.Asp407Gly)	CFAP184, LOC100129931 (D407G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469504	NM_153376.3(CFAP184):c.592G>A (p.Gly198Arg)	CFAP184, LOC100129931 (G198R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458230	NM_153376.3(CFAP184):c.823G>T (p.Ala275Ser)	CFAP184, LOC100129931 (A275S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403014	NM_153376.3(CFAP184):c.1026G>A (p.Met342Ile)	CFAP184, LOC100129931 (M342I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383128	NM_153376.3(CFAP184):c.361G>C (p.Glu121Gln)	CFAP184, LOC100129931 (E121Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368929	NM_153376.3(CFAP184):c.425C>T (p.Ala142Val)	CFAP184, LOC100129931 (A142V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368439	NM_153376.3(CFAP184):c.1507G>A (p.Gly503Ser)	CFAP184, LOC100129931 (G503S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362406	NM_153376.3(CFAP184):c.1525C>T (p.Arg509Trp)	CFAP184, LOC100129931 (R509W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348029	NM_153376.3(CFAP184):c.1120G>C (p.Ala374Pro)	CFAP184, LOC100129931 (A374P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337600	NM_153376.3(CFAP184):c.83T>C (p.Ile28Thr)	CFAP184, LOC100129931 (I28T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308013	NM_153376.3(CFAP184):c.1624G>A (p.Val542Met)	CFAP184, LOC100129931 (V542M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307705	NM_153376.3(CFAP184):c.113C>G (p.Pro38Arg)	LOC100129931, CFAP184 (P38R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296084	NM_153376.3(CFAP184):c.642G>C (p.Glu214Asp)	CFAP184, LOC100129931 (E214D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294776	NM_153376.3(CFAP184):c.502G>A (p.Glu168Lys)	CFAP184, LOC100129931 (E168K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278552	NM_153376.3(CFAP184):c.184G>A (p.Ala62Thr)	CFAP184, LOC100129931 +1 more (A62T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274597	NM_153376.3(CFAP184):c.811C>T (p.Arg271Trp)	CFAP184, LOC100129931 (R271W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269840	NM_153376.3(CFAP184):c.545G>A (p.Ser182Asn)	CFAP184, LOC100129931 (S182N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249886	NM_153376.3(CFAP184):c.326C>A (p.Ala109Asp)	CFAP184, LOC100129931 (A109D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246182	NM_153376.3(CFAP184):c.142G>C (p.Glu48Gln)	CFAP184, LOC100129931 (E48Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229156	NM_153376.3(CFAP184):c.239G>C (p.Gly80Ala)	CFAP184, LOC100129931 +1 more (G80A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218177	NM_153376.3(CFAP184):c.802G>C (p.Val268Leu)	CFAP184, LOC100129931 (V268L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216824	NM_153376.3(CFAP184):c.1430T>A (p.Ile477Asn)	CFAP184, LOC100129931 (I477N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212333	NM_153376.3(CFAP184):c.209C>G (p.Pro70Arg)	CFAP184, LOC100129931 +1 more (P70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209692	NM_153376.3(CFAP184):c.1298G>A (p.Arg433His)	CFAP184, LOC100129931 (R433H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205497	NM_153376.3(CFAP184):c.1127G>T (p.Arg376Leu)	CFAP184, LOC100129931 (R376L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1679802	Single allele	ADRA2C, BLOC1S4 +181 more	Deletion	not provided	GLikely pathogenic
Select item 1527073	GRCh37/hg19 4p16.1(chr4:6518452-7723887)	BLOC1S4, CCDC96 +11 more	Copy number loss	not specified	GUncertain significance
Select item 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 1340960	GRCh37/hg19 4p16.2-16.1(chr4:5864059-7458744)x1	BLOC1S4, C4orf50 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	FGFBP2, SMIM20 +161 more	Copy number gain	not provided	GPathogenic
Select item 1180545	GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	RGS12, RNF212 +140 more	Copy number loss	not provided	GPathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 917931	NM_153376.3(CFAP184):c.114_120dup (p.Gly41fs)	CFAP184, LOC100129931 (G41fs)	Duplication (frameshift variant)	Orofaciodigital syndrome	GUncertain significance
Select item 816497	GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1	ADD1, ABLIM2 +146 more	Copy number loss	See cases	GPathogenic
Select item 814529	GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1	ABLIM2, ACOX3 +65 more	Copy number loss	not provided	GLikely pathogenic
Select item 814524	GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1	ABLIM2, ACOX3 +114 more	Copy number loss	not provided	GPathogenic
Select item 814522	GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1	ABLIM2, ACOX3 +90 more	Copy number loss	not provided	GPathogenic
Select item 814521	GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1	ABLIM2, ACOX3 +111 more	Copy number loss	not provided	GPathogenic
Select item 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
Select item 685188	GRCh37/hg19 4p16.3-15.33(chr4:3374195-13468480)x1	ABLIM2, ACOX3 +69 more	Copy number loss	not provided	GPathogenic
Select item 625664	GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411)	JAKMIP1, KIAA0232 +90 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 562884	GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1	ABLIM2, ACOX3 +108 more	Copy number loss	not provided	GPathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 443978	GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3	ABLIM2, ACOX3 +90 more	Copy number gain	See cases	GLikely pathogenic
Select item 443045	GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1	NELFA, NICOL1 +130 more	Copy number loss	See cases	GPathogenic
Select item 442536	GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1	ABLIM2, ACOX3 +120 more	Copy number loss	See cases	GPathogenic
Select item 442268	GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1	ABLIM2, ACOX3 +114 more	Copy number loss	See cases	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 394281	GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1	ABLIM2, ACOX3 +121 more	Copy number loss	See cases	GPathogenic
Select item 394246	GRCh37/hg19 4p16.1(chr4:6968998-8145949)x3	ABLIM2, AFAP1 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253666	GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3	ABLIM2, ACOX3 +89 more	Copy number gain	See cases	GPathogenic
Select item 253574	GRCh37/hg19 4p16.3-16.1(chr4:3776784-7361544)x1	BLOC1S4, C4orf50 +26 more	Copy number loss	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253431	GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	BOD1L1, LDB2 +161 more	Copy number loss	See cases	GPathogenic
Select item 253400	GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3	LAP3, CC2D2A +71 more	Copy number gain	See cases	GPathogenic
Select item 252966	GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1	KIAA0232, LETM1 +91 more	Copy number loss	See cases	GPathogenic
Select item 219020	GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1	C4orf50, EVC +140 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic

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