LOC126862662[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	LOC130061805, LOC130061806 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	LOC126862671, LOC126862672 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 1234611	NM_001366385.1(CARD14):c.2398+298del	CARD14, LOC126862662 +1 more	Deletion (intron variant)	not provided	GBenign
Select item 1201815	NM_001366385.1(CARD14):c.2399-47G>A	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2061091	NM_001366385.1(CARD14):c.2399-6C>T	LOC126862662, SGSH +1 more	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 402486	NM_001366385.1(CARD14):c.2399-4A>G	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +2 more	GBenign; association
Select item 1386887	NM_001366385.1(CARD14):c.2399-3C>T	SGSH, CARD14 +1 more	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 734551	NM_001366385.1(CARD14):c.2403C>T (p.Ser801=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +3 more	GBenign/Likely benign
Select item 2938715	NM_001366385.1(CARD14):c.2408C>G (p.Thr803Arg)	SGSH, CARD14 +1 more (T803R)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 1415864	NM_001366385.1(CARD14):c.2408C>T (p.Thr803Met)	CARD14, LOC126862662 +1 more (T803M)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2943281	NM_001366385.1(CARD14):c.2409G>T (p.Thr803=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 527873	NM_001366385.1(CARD14):c.2409G>A (p.Thr803=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +2 more	GBenign/Likely benign
Select item 2178114	NM_001366385.1(CARD14):c.2411G>A (p.Cys804Tyr)	CARD14, LOC126862662 +1 more (C804Y)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 916444	NM_001366385.1(CARD14):c.2418G>C (p.Trp806Cys)	CARD14, LOC126862662 +1 more (W806C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1047098	NM_001366385.1(CARD14):c.2419G>A (p.Ala807Thr)	CARD14, LOC126862662 +1 more (A807T)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1159452	NM_001366385.1(CARD14):c.2421C>T (p.Ala807=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 1145913	NM_001366385.1(CARD14):c.2421C>G (p.Ala807=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 422207	NM_001366385.1(CARD14):c.2422G>A (p.Glu808Lys)	CARD14, LOC126862662 +1 more (E808K)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +2 more	GUncertain significance
Select item 1088785	NM_001366385.1(CARD14):c.2424G>A (p.Glu808=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1464456	NM_001366385.1(CARD14):c.2432T>C (p.Leu811Pro)	CARD14, LOC126862662 +1 more (L811P)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2942034	NM_001366385.1(CARD14):c.2437C>T (p.Leu813=)	SGSH, CARD14 +1 more	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 834513	NM_001366385.1(CARD14):c.2437C>G (p.Leu813Val)	CARD14, LOC126862662 +1 more (L813V)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 2947587	NM_001366385.1(CARD14):c.2448T>A (p.Tyr816Ter)	CARD14, LOC126862662 +1 more (Y816*)	Single nucleotide variant (nonsense +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 1366104	NM_001366385.1(CARD14):c.2455G>A (p.Val819Met)	CARD14, LOC126862662 +1 more (V819M)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2940023	NM_001366385.1(CARD14):c.2456T>C (p.Val819Ala)	CARD14, LOC126862662 +1 more (V819A)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1082515	NM_001366385.1(CARD14):c.2457G>A (p.Val819=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 402487	NM_001366385.1(CARD14):c.2458C>T (p.Arg820Trp)	CARD14, LOC126862662 +1 more (R820W)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +4 more	GConflicting classifications of pathogenicity
Select item 2929457	NM_001366385.1(CARD14):c.2459G>A (p.Arg820Gln)	CARD14, LOC126862662 +1 more (R820Q)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2924897	NM_001366385.1(CARD14):c.2463C>T (p.Pro821=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Psoriasis 2 +1 more	GLikely benign
Select item 2683443	NM_001366385.1(CARD14):c.2467C>T (p.Arg823Ter)	CARD14, LOC126862662 +1 more (R823*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 835261	NM_001366385.1(CARD14):c.2468G>A (p.Arg823Gln)	SGSH, CARD14 +1 more (R823Q)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2927447	NM_001366385.1(CARD14):c.2472C>T (p.Pro824=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Psoriasis 2 +1 more	GLikely benign
Select item 640610	NM_001366385.1(CARD14):c.2473G>A (p.Ala825Thr)	CARD14, LOC126862662 +1 more (A825T)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +2 more	GUncertain significance
Select item 572536	NM_001366385.1(CARD14):c.2476C>T (p.Arg826Trp)	SGSH, CARD14 +1 more (R826W)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
Select item 641359	NM_001366385.1(CARD14):c.2477G>A (p.Arg826Gln)	CARD14, LOC126862662 +1 more (R826Q)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2937158	NM_001366385.1(CARD14):c.2481_2482delinsTT (p.Arg828Trp)	CARD14, LOC126862662 +1 more (R828W)	Indel (missense variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 1167400	NM_001366385.1(CARD14):c.2481C>T (p.Pro827=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Psoriasis 2 +3 more	GBenign
Select item 2194445	NM_001366385.1(CARD14):c.2482C>T (p.Arg828Trp)	CARD14, LOC126862662 +1 more (R828W)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 527868	NM_001366385.1(CARD14):c.2483G>A (p.Arg828Gln)	CARD14, LOC126862662 +1 more (R828Q)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1389355	NM_001366385.1(CARD14):c.2489T>C (p.Val830Ala)	CARD14, LOC126862662 +1 more (V830A)	Single nucleotide variant (non-coding transcript variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 527887	NM_001366385.1(CARD14):c.2496C>T (p.Leu832=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +3 more	GBenign/Likely benign
Select item 834989	NM_001366385.1(CARD14):c.2497G>A (p.Val833Met)	CARD14, LOC126862662 +1 more (V833M)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2487144	NM_001366385.1(CARD14):c.2500C>G (p.Pro834Ala)	CARD14, LOC126862662 +1 more (P834A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2932079	NM_001366385.1(CARD14):c.2503del (p.Arg835fs)	CARD14, LOC126862662 +1 more (R835fs)	Deletion (frameshift variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 1601741	NM_001366385.1(CARD14):c.2508G>A (p.Ala836=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GBenign
Select item 1532828	NM_001366385.1(CARD14):c.2514G>A (p.Gly838=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 576948	NM_001366385.1(CARD14):c.2517G>C (p.Lys839Asn)	CARD14, LOC126862662 +1 more (K839N)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 863528	NM_001366385.1(CARD14):c.2526C>T (p.Ser842=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 642022	NM_001366385.1(CARD14):c.2527G>A (p.Glu843Lys)	CARD14, LOC126862662 +1 more (E843K)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +2 more	GUncertain significance
Select item 2937337	NM_001366385.1(CARD14):c.2533C>A (p.Leu845Met)	CARD14, LOC126862662 +1 more (L845M)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 2093812	NM_001366385.1(CARD14):c.2536_2537del (p.Cys846fs)	CARD14, LOC126862662 +1 more (C846fs)	Microsatellite (frameshift variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 1138039	NM_001366385.1(CARD14):c.2535G>A (p.Leu845=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2937190	NM_001366385.1(CARD14):c.2538C>A (p.Cys846Ter)	CARD14, LOC126862662 +1 more (C846*)	Single nucleotide variant (nonsense +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 2936637	NM_001366385.1(CARD14):c.2538C>G (p.Cys846Trp)	CARD14, LOC126862662 +1 more (C846W)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 2167677	NM_001366385.1(CARD14):c.2539C>T (p.Leu847Phe)	CARD14, LOC126862662 +1 more (L847F)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2004306	NM_001366385.1(CARD14):c.2540T>A (p.Leu847His)	CARD14, LOC126862662 +1 more (L847H)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2947797	NM_001366385.1(CARD14):c.2544C>G (p.Leu848=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Psoriasis 2 +1 more	GLikely benign
Select item 1118825	NM_001366385.1(CARD14):c.2544C>T (p.Leu848=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1558404	NM_001366385.1(CARD14):c.2559G>A (p.Lys853=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1449287	NM_001366385.1(CARD14):c.2561G>A (p.Cys854Tyr)	CARD14, LOC126862662 +1 more (C854Y)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2943536	NM_001366385.1(CARD14):c.2567C>T (p.Ala856Val)	CARD14, LOC126862662 +1 more (A856V)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1504719	NM_001366385.1(CARD14):c.2569+2T>A	CARD14, LOC126862662 +1 more	Single nucleotide variant (splice donor variant)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 527886	NM_001366385.1(CARD14):c.2569+4T>C	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1152255	NM_001366385.1(CARD14):c.2569+8G>A	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2924523	NM_001366385.1(CARD14):c.2569+10T>G	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	Psoriasis 2 +1 more	GLikely benign
Select item 2194558	NM_001366385.1(CARD14):c.2569+13C>G	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2055027	NM_001366385.1(CARD14):c.2569+15G>A	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GBenign
Select item 1216519	NM_001366385.1(CARD14):c.2569+151A>G	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2927101	NM_001366385.1(CARD14):c.2570-18G>A	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	Psoriasis 2 +1 more	GLikely benign
Select item 1972332	NM_001366385.1(CARD14):c.2570-13A>G	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2928543	NM_001366385.1(CARD14):c.2570-11G>A	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1001503	NM_001366385.1(CARD14):c.2570-9C>G	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1115133	NM_001366385.1(CARD14):c.2570-4G>A	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1693713	NM_001366385.1(CARD14):c.2570-3T>C	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +2 more	GUncertain significance
Select item 959047	NM_001366385.1(CARD14):c.2570-1G>C	CARD14, LOC126862662 +1 more	Single nucleotide variant (splice acceptor variant)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1999940	NM_001366385.1(CARD14):c.2574C>T (p.Tyr858=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1694236	NM_001366385.1(CARD14):c.2579G>T (p.Ser860Ile)	CARD14, LOC126862662 +1 more (S860I)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +2 more	GUncertain significance
Select item 2948872	NM_001366385.1(CARD14):c.2587G>A (p.Glu863Lys)	CARD14, LOC126862662 +1 more (E863K)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 1374882	NM_001366385.1(CARD14):c.2591A>G (p.Tyr864Cys)	CARD14, LOC126862662 +1 more (Y864C)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 2153225	NM_001366385.1(CARD14):c.2595G>A (p.Glu865=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2942597	NM_001366385.1(CARD14):c.2598C>G (p.Ala866=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 1352357	NM_001366385.1(CARD14):c.2599T>A (p.Trp867Arg)	CARD14, LOC126862662 +1 more (W867R)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 527866	NM_001366385.1(CARD14):c.2606A>G (p.Gln869Arg)	CARD14, LOC126862662 +1 more (Q869R)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1646070	NM_001366385.1(CARD14):c.2619C>T (p.Ile873=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2052561	NM_001366385.1(CARD14):c.2626G>A (p.Glu876Lys)	CARD14, LOC126862662 +1 more (E876K)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1040385	NM_001366385.1(CARD14):c.2626G>C (p.Glu876Gln)	CARD14, LOC126862662 +1 more (E876Q)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2947693	NM_001366385.1(CARD14):c.2628G>A (p.Glu876=)	SGSH, CARD14 +1 more	Single nucleotide variant (synonymous variant +1 more)	Psoriasis 2 +1 more	GLikely benign
Select item 2113326	NM_001366385.1(CARD14):c.2630G>A (p.Gly877Glu)	LOC126862662, CARD14 +1 more (G877E)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1694237	NM_001366385.1(CARD14):c.2638T>C (p.Ser880Pro)	CARD14, LOC126862662 +1 more (S880P)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +2 more	GUncertain significance
Select item 1721061	NM_001366385.1(CARD14):c.2639C>T (p.Ser880Phe)	CARD14, LOC126862662 +1 more (S880F)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1106951	NM_001366385.1(CARD14):c.2640C>T (p.Ser880=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2029499	NM_001366385.1(CARD14):c.2645del (p.Gly882fs)	CARD14, LOC126862662 +1 more (G882fs)	Deletion (frameshift variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 527870	NM_001366385.1(CARD14):c.2641G>A (p.Gly881Arg)	CARD14, LOC126862662 +1 more (G881R)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 1039897	NM_001366385.1(CARD14):c.2645G>A (p.Gly882Asp)	CARD14, LOC126862662 +1 more (G882D)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 458097	NM_001366385.1(CARD14):c.2648G>A (p.Arg883His)	CARD14, LOC126862662 +1 more (R883H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 2946272	NM_001366385.1(CARD14):c.2658G>T (p.Val886=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Psoriasis 2 +1 more	GLikely benign
Select item 653868	NM_001366385.1(CARD14):c.2662C>T (p.Arg888Cys)	CARD14, LOC126862662 +1 more (R888C)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance

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