LOC100129931[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 154884	GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1	ADD1, ADRA2C +426 more	Copy number loss	See cases	GPathogenic
Select item 149173	GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1	NELFA, NICOL1 +504 more	Copy number loss	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 146749	GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	ABLIM2, ACOX3 +504 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 57239	GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3	ABLIM2, ADD1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 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
Select item 155310	GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	ABLIM2, ACOX3 +479 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	ABLIM2, ACOX3 +569 more	Copy number loss	See cases	GPathogenic
Select item 147922	GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	ABLIM2, ACOX3 +536 more	Copy number loss	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 57901	GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1	NSD2, NSG1 +438 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57938	GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	LOC129992176, LOC129992177 +439 more	Copy number loss	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 57936	GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1	ADD1, ADRA2C +414 more	Copy number loss	See cases	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 146113	GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	ABLIM2, ACOX3 +500 more	Copy number loss	See cases	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 1679802	Single allele	ADRA2C, BLOC1S4 +181 more	Deletion	not provided	GLikely pathogenic
Select item 153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	ABLIM2, ACOX3 +365 more	Copy number loss	See cases	GPathogenic
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 3235344	NM_153376.3(CFAP184):c.1597G>A (p.Ala533Thr)	CFAP184, LOC100129931 (A533T)	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 2362406	NM_153376.3(CFAP184):c.1525C>T (p.Arg509Trp)	CFAP184, LOC100129931 (R509W)	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 3235342	NM_153376.3(CFAP184):c.1469C>T (p.Thr490Met)	CFAP184, LOC100129931 (T490M)	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 2216824	NM_153376.3(CFAP184):c.1430T>A (p.Ile477Asn)	CFAP184, LOC100129931 (I477N)	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 2469694	NM_153376.3(CFAP184):c.1220A>G (p.Asp407Gly)	CFAP184, LOC100129931 (D407G)	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 2348029	NM_153376.3(CFAP184):c.1120G>C (p.Ala374Pro)	CFAP184, LOC100129931 (A374P)	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 2613034	NM_153376.3(CFAP184):c.1046G>C (p.Gly349Ala)	CFAP184, LOC100129931 (G349A)	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 2458230	NM_153376.3(CFAP184):c.823G>T (p.Ala275Ser)	CFAP184, LOC100129931 (A275S)	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 2218177	NM_153376.3(CFAP184):c.802G>C (p.Val268Leu)	CFAP184, LOC100129931 (V268L)	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 3235351	NM_153376.3(CFAP184):c.682C>T (p.Leu228Phe)	CFAP184, LOC100129931 (L228F)	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 2469504	NM_153376.3(CFAP184):c.592G>A (p.Gly198Arg)	CFAP184, LOC100129931 (G198R)	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 2269840	NM_153376.3(CFAP184):c.545G>A (p.Ser182Asn)	CFAP184, LOC100129931 (S182N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2294776	NM_153376.3(CFAP184):c.502G>A (p.Glu168Lys)	CFAP184, LOC100129931 (E168K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470331	NM_153376.3(CFAP184):c.478G>A (p.Ala160Thr)	CFAP184, LOC100129931 (A160T)	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 2368929	NM_153376.3(CFAP184):c.425C>T (p.Ala142Val)	CFAP184, LOC100129931 (A142V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2383128	NM_153376.3(CFAP184):c.361G>C (p.Glu121Gln)	CFAP184, LOC100129931 (E121Q)	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 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 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 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 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 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 2246182	NM_153376.3(CFAP184):c.142G>C (p.Glu48Gln)	CFAP184, LOC100129931 (E48Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 917931	NM_153376.3(CCDC96):c.114_120dup (p.Gly41fs)	CCDC96, LOC100129931 (G41fs)	Duplication (frameshift variant)	Orofaciodigital syndrome	GUncertain significance
Select item 2307705	NM_153376.3(CFAP184):c.113C>G (p.Pro38Arg)	CFAP184, LOC100129931 (P38R)	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 2264338	NM_152293.3(TADA2B):c.191C>G (p.Pro64Arg)	LOC100129931, TADA2B (P64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529529	NM_152293.3(TADA2B):c.200A>C (p.Glu67Ala)	LOC100129931, TADA2B (E67A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 79