ClinVar for MedGen (Select 351141) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 +1 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)	Psoriasis 2 +1 more	GUncertain significance
Select item 2953291	NM_001366385.1(CARD14):c.1240-14C>T	CARD14	Single nucleotide variant (intron variant)	Psoriasis 2 +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)	Psoriasis 2 +1 more	GUncertain significance
Select item 2952629	NM_001366385.1(CARD14):c.2283+14G>A	CARD14, SGSH	Single nucleotide variant (intron variant)	Psoriasis 2 +1 more	GLikely benign
Select item 2952468	NM_001366385.1(CARD14):c.2891C>T (p.Pro964Leu)	SGSH, CARD14 (P964L)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +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)	Psoriasis 2 +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)	Psoriasis 2 +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)	Psoriasis 2 +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)	Psoriasis 2 +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)	Psoriasis 2 +1 more	GLikely benign
Select item 2950307	NM_001366385.1(CARD14):c.844-4C>T	CARD14	Single nucleotide variant (intron variant)	Psoriasis 2 +1 more	GLikely benign
Select item 2950012	NM_001366385.1(CARD14):c.2220-19C>A	CARD14, SGSH	Single nucleotide variant (intron variant)	Psoriasis 2 +1 more	GLikely benign
Select item 2949571	NM_001366385.1(CARD14):c.1557C>T (p.Gly519=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	CARD14-related condition +2 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)	Psoriasis 2 +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)	Psoriasis 2 +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)	Psoriasis 2 +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)	Psoriasis 2 +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)	Psoriasis 2 +1 more	GUncertain significance
Select item 2947933	NM_001366385.1(CARD14):c.2807+2T>C	CARD14, SGSH	Single nucleotide variant (splice donor variant)	Psoriasis 2 +1 more	GUncertain significance
Select item 2947879	NM_001366385.1(CARD14):c.349+7G>A	CARD14	Single nucleotide variant (intron variant)	Psoriasis 2 +1 more	GLikely benign
Select item 2947852	NM_001366385.1(CARD14):c.1672C>A (p.Arg558=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Psoriasis 2 +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)	Psoriasis 2 +1 more	GLikely benign
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 2947666	NM_001366385.1(CARD14):c.1775G>A (p.Gly592Asp)	CARD14 (G592D +1 more)	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 2947488	NM_001366385.1(CARD14):c.13_14del (p.Cys5fs)	CARD14 (C5fs)	Microsatellite (frameshift variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 2947340	NM_001366385.1(CARD14):c.1761C>T (p.Gly587=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Psoriasis 2 +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)	Psoriasis 2 +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)	Psoriasis 2 +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)	Psoriasis 2 +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)	Psoriasis 2 +1 more	GUncertain significance
Select item 2946756	NM_001366385.1(CARD14):c.212-8C>T	CARD14	Single nucleotide variant (intron variant)	Psoriasis 2 +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)	Psoriasis 2 +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)	Psoriasis 2 +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)	Psoriasis 2 +1 more	GLikely benign
Select item 2946100	NM_001366385.1(CARD14):c.1239+13G>A	CARD14	Single nucleotide variant (intron variant)	Psoriasis 2 +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)	Psoriasis 2 +1 more	GUncertain significance
Select item 2945548	NM_001366385.1(CARD14):c.333_334insCGAC (p.Phe112fs)	CARD14 (F112fs)	Insertion (frameshift variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 2945536	NM_001366385.1(CARD14):c.131_132dup (p.Gln45fs)	CARD14 (Q45fs)	Microsatellite (frameshift variant +1 more)	Psoriasis 2 +1 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)	Psoriasis 2 +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)	Psoriasis 2 +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)	Psoriasis 2 +1 more	GUncertain significance
Select item 2944816	NM_001366385.1(CARD14):c.676-7C>A	CARD14	Single nucleotide variant (intron variant)	Psoriasis 2 +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)	Psoriasis 2 +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)	Psoriasis 2 +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)	Psoriasis 2 +1 more	GUncertain significance
Select item 2943984	NM_001366385.1(CARD14):c.1737G>A (p.Leu579=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Psoriasis 2 +1 more	GLikely benign
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 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=)	SGSH, CARD14 +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 +1 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)	CARD14, LOC126862662 +1 more (V819A)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +1 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)	Psoriasis 2 +1 more	GLikely benign
Select item 2939204	NM_001366385.1(CARD14):c.2691+16G>T	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	Psoriasis 2 +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)	Psoriasis 2 +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)	Psoriasis 2 +1 more	GUncertain significance
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 2938711	NM_001366385.1(CARD14):c.2807+8C>A	CARD14, SGSH	Single nucleotide variant (intron variant)	Psoriasis 2 +1 more	GLikely benign
Select item 2938512	NM_001366385.1(CARD14):c.1038G>A (p.Lys346=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Psoriasis 2 +1 more	GLikely benign
Select item 2938474	NM_001366385.1(CARD14):c.2220-3_2220-2dup	CARD14, SGSH	Duplication (splice acceptor variant)	Psoriasis 2 +1 more	GUncertain significance
Select item 2938310	NM_001366385.1(CARD14):c.2117C>T (p.Thr706Ile)	CARD14, SGSH (T706I)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 2938123	NM_001366385.1(CARD14):c.1500-20C>A	CARD14	Single nucleotide variant (intron variant)	Psoriasis 2 +1 more	GLikely benign
Select item 2937868	NM_001366385.1(CARD14):c.1239+15C>T	CARD14	Single nucleotide variant (intron variant)	Psoriasis 2 +1 more	GLikely benign
Select item 2937857	NM_001366385.1(CARD14):c.2377T>G (p.Leu793Val)	CARD14, SGSH (L793V)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 2937800	NM_001366385.1(CARD14):c.99C>T (p.Cys33=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Psoriasis 2 +1 more	GLikely benign
Select item 2937715	NM_001366385.1(CARD14):c.801G>A (p.Leu267=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Psoriasis 2 +1 more	GLikely benign
Select item 2937459	NM_001366385.1(CARD14):c.1014G>A (p.Met338Ile)	CARD14 (M101I +1 more)	Single nucleotide variant (missense variant)	Psoriasis 2 +1 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 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 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 2937151	NM_001366385.1(CARD14):c.1349C>T (p.Ser450Phe)	CARD14 (S450F +1 more)	Single nucleotide variant (missense variant +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 2936442	NM_001366385.1(CARD14):c.2066G>A (p.Gly689Asp)	CARD14, SGSH (G689D)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 2936327	NM_001366385.1(CARD14):c.2126T>C (p.Met709Thr)	CARD14, SGSH (M709T)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 2936283	NM_001366385.1(CARD14):c.768C>T (p.Asp256=)	CARD14	Single nucleotide variant (synonymous variant +1 more)	Psoriasis 2 +1 more	GLikely benign
Select item 2935932	NM_001366385.1(CARD14):c.2691+19T>G	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	Psoriasis 2 +1 more	GLikely benign
Select item 2935893	NM_001366385.1(CARD14):c.1046C>A (p.Ala349Glu)	CARD14 (A349E +1 more)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +1 more	GUncertain significance
Select item 2935707	NM_001366385.1(CARD14):c.1965G>A (p.Lys655=)	CARD14, SGSH	Single nucleotide variant (synonymous variant +1 more)	Psoriasis 2 +1 more	GUncertain significance

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