ClinVar for Gene (Select 79092) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353829	NM_001366385.1(CARD14):c.1851+95G>A	CARD14 (R412Q)	Single nucleotide variant (missense variant +1 more)	CARD14-related disorder	GUncertain significance
Select item 3344597	NM_001366385.1(CARD14):c.1543G>C (p.Gly515Arg)	CARD14 (G278R +1 more)	Single nucleotide variant (missense variant +1 more)	CARD14-related disorder	GUncertain significance
Select item 3263301	NM_001366385.1(CARD14):c.2722G>T (p.Asp908Tyr)	CARD14, SGSH (D908Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3263300	NM_001366385.1(CARD14):c.1730A>G (p.Asp577Gly)	CARD14 (D577G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3263299	NM_001366385.1(CARD14):c.2042T>G (p.Ile681Ser)	CARD14, SGSH (I681S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3242941	NC_000017.10:g.(?_76109229)_(78367298_?)dup	AFMID, BIRC5 +29 more	Duplication	Idiopathic generalized epilepsy	GUncertain significance
Select item 3242917	NC_000017.10:g.(?_78180679)_(78182040_?)del	CARD14	Deletion	Psoriasis 2 +1 more	GUncertain significance
Select item 3242916	NC_000017.10:g.(?_78163532)_(78194112_?)dup	CARD14, SGSH	Duplication	Psoriasis 2 +1 more	GUncertain significance
Select item 3137307	NM_001366385.1(CARD14):c.893G>C (p.Arg298Pro)	CARD14 (R298P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3137305	NM_001366385.1(CARD14):c.668A>G (p.Gln223Arg)	CARD14 (Q223R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3137304	NM_001366385.1(CARD14):c.452G>T (p.Arg151Leu)	CARD14 (R151L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3137303	NM_001366385.1(CARD14):c.437A>G (p.Lys146Arg)	CARD14 (K146R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3137301	NM_001366385.1(CARD14):c.2078G>T (p.Gly693Val)	CARD14, SGSH (G693V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3137299	NM_001366385.1(CARD14):c.1613G>C (p.Ser538Thr)	CARD14 (S301T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3137298	NM_001366385.1(CARD14):c.125A>G (p.Tyr42Cys)	CARD14 (Y42C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3047669	NM_001366385.1(CARD14):c.1734A>G (p.Ala578=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	CARD14-related disorder	GLikely benign
Select item 3042687	NM_001366385.1(CARD14):c.1979-26_1979-16del	CARD14, SGSH	Microsatellite (intron variant)	CARD14-related disorder	GLikely benign
Select item 3039595	NM_001366385.1(CARD14):c.1851+114C>T	CARD14	Single nucleotide variant (synonymous variant +1 more)	CARD14-related disorder	GBenign
Select item 3036726	NM_001366385.1(CARD14):c.1851+175G>A	CARD14	Single nucleotide variant (3 prime UTR variant +1 more)	CARD14-related disorder	GLikely benign
Select item 2954505	NM_001366385.1(CARD14):c.1499+2T>C	CARD14	Single nucleotide variant (splice donor variant)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2954343	NM_001366385.1(CARD14):c.1920G>A (p.Val640=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2954240	NM_001366385.1(CARD14):c.1324G>A (p.Asp442Asn)	CARD14 (D205N +1 more)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +2 more	GUncertain significance
Select item 2954075	NM_001366385.1(CARD14):c.669G>C (p.Gln223His)	CARD14 (Q223H)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2953891	NM_001366385.1(CARD14):c.452G>A (p.Arg151Gln)	CARD14 (R151Q)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2953539	NM_001366385.1(CARD14):c.2857G>T (p.Ala953Ser)	CARD14, SGSH (A953S)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2953291	NM_001366385.1(CARD14):c.1240-14C>T	CARD14	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2952698	NM_001366385.1(CARD14):c.531C>A (p.His177Gln)	CARD14 (H177Q)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2952629	NM_001366385.1(CARD14):c.2283+14G>A	CARD14, SGSH	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2952468	NM_001366385.1(CARD14):c.2891C>T (p.Pro964Leu)	CARD14, SGSH (P964L)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2951723	NM_001366385.1(CARD14):c.1796C>A (p.Thr599Asn)	CARD14 (T599N +1 more)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2951120	NM_001366385.1(CARD14):c.1793T>C (p.Val598Ala)	CARD14 (V361A +1 more)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2951086	NM_001366385.1(CARD14):c.322C>T (p.Pro108Ser)	CARD14 (P108S)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2950818	NM_001366385.1(CARD14):c.1964A>T (p.Lys655Met)	CARD14, SGSH (K655M)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2950376	NM_001366385.1(CARD14):c.2271C>T (p.Thr757=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2950307	NM_001366385.1(CARD14):c.844-4C>T	CARD14	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2950012	NM_001366385.1(CARD14):c.2220-19C>A	CARD14, SGSH	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2949571	NM_001366385.1(CARD14):c.1557C>T (p.Gly519=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2948945	NM_001366385.1(CARD14):c.2777C>G (p.Ser926Cys)	CARD14, SGSH (S926C)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 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)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2948842	NM_001366385.1(CARD14):c.2261A>T (p.Gln754Leu)	CARD14, SGSH (Q754L)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2948477	NM_001366385.1(CARD14):c.473A>G (p.Glu158Gly)	CARD14 (E158G)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2948286	NM_001366385.1(CARD14):c.2882A>C (p.Asp961Ala)	CARD14, SGSH (D961A)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2947933	NM_001366385.1(CARD14):c.2807+2T>C	CARD14, SGSH	Single nucleotide variant (splice donor variant)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2947879	NM_001366385.1(CARD14):c.349+7G>A	CARD14	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2947852	NM_001366385.1(CARD14):c.1672C>A (p.Arg558=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2947797	NM_001366385.1(CARD14):c.2544C>G (p.Leu848=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2947693	NM_001366385.1(CARD14):c.2628G>A (p.Glu876=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2947666	NM_001366385.1(CARD14):c.1775G>A (p.Gly592Asp)	CARD14 (G592D +1 more)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +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)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2947488	NM_001366385.1(CARD14):c.13_14del (p.Cys5fs)	CARD14 (C5fs)	Microsatellite (frameshift variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2947340	NM_001366385.1(CARD14):c.1761C>T (p.Gly587=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2947285	NM_001366385.1(CARD14):c.2292T>C (p.Ser764=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2947282	NM_001366385.1(CARD14):c.1487C>A (p.Pro496His)	CARD14 (P259H +1 more)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2947266	NM_001366385.1(CARD14):c.2005G>A (p.Glu669Lys)	CARD14, SGSH (E669K)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2946878	NM_001366385.1(CARD14):c.2918A>G (p.Asp973Gly)	CARD14, SGSH (D973G)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2946756	NM_001366385.1(CARD14):c.212-8C>T	CARD14	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2946743	NM_001366385.1(CARD14):c.1206G>C (p.Gln402His)	CARD14 (Q165H +1 more)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2946312	NM_001366385.1(CARD14):c.2836G>A (p.Glu946Lys)	CARD14, SGSH (E946K)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2946272	NM_001366385.1(CARD14):c.2658G>T (p.Val886=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2946100	NM_001366385.1(CARD14):c.1239+13G>A	CARD14	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2946095	NM_001366385.1(CARD14):c.1646A>C (p.Asp549Ala)	CARD14 (D312A +1 more)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2945548	NM_001366385.1(CARD14):c.333_334insCGAC (p.Phe112fs)	CARD14 (F112fs)	Insertion (frameshift variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2945536	NM_001366385.1(CARD14):c.131_132dup (p.Gln45fs)	CARD14 (Q45fs)	Microsatellite (frameshift variant +1 more)	not provided +2 more	GUncertain significance
Select item 2945462	NM_001366385.1(CARD14):c.773A>C (p.Glu258Ala)	CARD14 (E258A +1 more)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2945460	NM_001366385.1(CARD14):c.1744C>T (p.Gln582Ter)	CARD14 (Q345* +1 more)	Single nucleotide variant (nonsense +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2944854	NM_001366385.1(CARD14):c.1156C>A (p.Arg386Ser)	CARD14 (R386S +1 more)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2944816	NM_001366385.1(CARD14):c.676-7C>A	CARD14	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2944743	NM_001366385.1(CARD14):c.2845C>A (p.Leu949Ile)	CARD14, SGSH (L949I)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2944208	NM_001366385.1(CARD14):c.1232C>G (p.Pro411Arg)	CARD14 (P174R +1 more)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2944088	NM_001366385.1(CARD14):c.1762G>C (p.Gly588Arg)	CARD14 (G588R +1 more)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2943984	NM_001366385.1(CARD14):c.1737G>A (p.Leu579=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2943536	NM_001366385.1(CARD14):c.2567C>T (p.Ala856Val)	SGSH, CARD14 +1 more (A856V)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2943396	NM_001366385.1(CARD14):c.941C>A (p.Ala314Asp)	CARD14 (A314D +1 more)	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 2943062	NM_001366385.1(CARD14):c.1847T>C (p.Val616Ala)	CARD14 (V616A +1 more)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2942648	NM_001366385.1(CARD14):c.2220-13C>A	CARD14, SGSH	Single nucleotide variant (intron variant)	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 2942337	NM_001366385.1(CARD14):c.646G>T (p.Ala216Ser)	CARD14 (A216S)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2942303	NM_001366385.1(CARD14):c.1216C>A (p.Leu406Met)	CARD14 (L169M +1 more)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2942276	NM_001366385.1(CARD14):c.1869A>G (p.Ser623=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2942114	NM_001366385.1(CARD14):c.1055C>G (p.Ala352Gly)	CARD14 (A115G +1 more)	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=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2941967	NM_001366385.1(CARD14):c.1420A>T (p.Ser474Cys)	CARD14 (S237C +1 more)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2941848	NM_001366385.1(CARD14):c.1858T>A (p.Tyr620Asn)	CARD14, SGSH (Y620N)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2940756	NM_001366385.1(CARD14):c.1852-11C>T	CARD14, SGSH	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2940548	NM_001366385.1(CARD14):c.844-11C>T	CARD14	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2940516	NM_001366385.1(CARD14):c.1099G>C (p.Ala367Pro)	CARD14 (A367P +1 more)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2940486	NM_001366385.1(CARD14):c.648C>T (p.Ala216=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2940445	NM_001366385.1(CARD14):c.1631C>A (p.Ser544Tyr)	CARD14 (S307Y +1 more)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +2 more	GUncertain significance
Select item 2940297	NM_001366385.1(CARD14):c.1270T>G (p.Cys424Gly)	CARD14 (C187G +1 more)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2940170	NM_001366385.1(CARD14):c.1194G>C (p.Glu398Asp)	CARD14 (E398D +1 more)	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)	SGSH, CARD14 +1 more (V819A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2939623	NM_001366385.1(CARD14):c.4G>A (p.Gly2Arg)	CARD14 (G2R)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2939458	NM_001366385.1(CARD14):c.1089+7G>A	CARD14	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2939204	NM_001366385.1(CARD14):c.2691+16G>T	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2939152	NM_001366385.1(CARD14):c.2877C>T (p.Asp959=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2939050	NM_001366385.1(CARD14):c.1324G>C (p.Asp442His)	CARD14 (D205H +1 more)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2938715	NM_001366385.1(CARD14):c.2408C>G (p.Thr803Arg)	CARD14, LOC126862662 +1 more (T803R)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2938711	NM_001366385.1(CARD14):c.2807+8C>A	CARD14, SGSH	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +1 more	GLikely benign
Select item 2938512	NM_001366385.1(CARD14):c.1038G>A (p.Lys346=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Pityriasis rubra pilaris +1 more	GLikely benign

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