Related gene-specific medical variations for Gene (Select 257236) - ClinVar

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Items: 46

	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 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 2613034	NM_153376.3(CFAP184):c.1046G>C (p.Gly349Ala)	CFAP184, LOC100129931 (G349A)	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 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)	CFAP184, LOC100129931 (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)	CFAP184, LOC100129931 (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 917931	NM_153376.3(CFAP184):c.114_120dup (p.Gly41fs)	CFAP184, LOC100129931 (G41fs)	Duplication (frameshift variant)	Orofaciodigital syndrome	GUncertain significance

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Links from Gene

Items: 46