ClinVar for Gene (Select 253017) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383460	NM_001010874.5(TECRL):c.229G>T (p.Asp77Tyr)	TECRL (D77Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379537	NM_001010874.5(TECRL):c.1009G>A (p.Ala337Thr)	TECRL (A337T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3377864	NM_001010874.5(TECRL):c.730T>C (p.Ser244Pro)	TECRL (S244P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358902	NM_001010874.5(TECRL):c.296G>A (p.Trp99Ter)	TECRL (W99*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia	GPathogenic
Select item 3354650	NM_001010874.5(TECRL):c.658-2A>G	TECRL	Single nucleotide variant (splice acceptor variant)	TECRL-related disorder	GLikely pathogenic
Select item 3325223	NM_001010874.5(TECRL):c.810G>T (p.Met270Ile)	TECRL (M270I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3325222	NM_001010874.5(TECRL):c.429G>C (p.Trp143Cys)	TECRL (W143C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3325221	NM_001010874.5(TECRL):c.369T>G (p.Ser123Arg)	TECRL (S123R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3325220	NM_001010874.5(TECRL):c.15C>G (p.His5Gln)	TECRL (H5Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3325219	NM_001010874.5(TECRL):c.78G>C (p.Leu26=)	TECRL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3325218	NM_001010874.5(TECRL):c.1042T>C (p.Phe348Leu)	TECRL (F348L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3325217	NM_001010874.5(TECRL):c.779G>C (p.Cys260Ser)	TECRL (C260S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3325216	NM_001010874.5(TECRL):c.272del (p.Lys91fs)	TECRL (K91fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 3325215	NM_001010874.5(TECRL):c.332-4T>G	TECRL	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GLikely benign
Select item 3325214	NM_001010874.5(TECRL):c.194T>G (p.Phe65Cys)	TECRL (F65C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3325213	NM_001010874.5(TECRL):c.223A>G (p.Ile75Val)	TECRL (I75V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3325212	NM_001010874.5(TECRL):c.239C>A (p.Thr80Lys)	TECRL (T80K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3325211	NM_001010874.5(TECRL):c.774+3A>G	TECRL	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 3325210	NM_001010874.5(TECRL):c.435+1_435+97del	TECRL	Deletion (splice donor variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 3325209	NM_001010874.5(TECRL):c.940A>C (p.Thr314Pro)	TECRL (T314P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3255077	NM_001010874.5(TECRL):c.395_408dup (p.Leu137fs)	TECRL (L137fs)	Duplication (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 3	GPathogenic
Select item 3232355	NM_001010874.5(TECRL):c.998T>C (p.Met333Thr)	TECRL (M333T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3232354	NM_001010874.5(TECRL):c.94A>G (p.Asn32Asp)	TECRL (N32D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232353	NM_001010874.5(TECRL):c.884T>A (p.Phe295Tyr)	TECRL (F295Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232352	NM_001010874.5(TECRL):c.881T>G (p.Met294Arg)	TECRL (M294R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232351	NM_001010874.5(TECRL):c.845G>C (p.Cys282Ser)	TECRL (C282S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232350	NM_001010874.5(TECRL):c.833-1G>C	TECRL	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 3232349	NM_001010874.5(TECRL):c.810G>A (p.Met270Ile)	TECRL (M270I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232348	NM_001010874.5(TECRL):c.7A>G (p.Lys3Glu)	TECRL (K3E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232347	NM_001010874.5(TECRL):c.630A>G (p.Gly210=)	TECRL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232346	NM_001010874.5(TECRL):c.583A>G (p.Ile195Val)	TECRL (I195V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232345	NM_001010874.5(TECRL):c.581A>G (p.Tyr194Cys)	TECRL (Y194C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232344	NM_001010874.5(TECRL):c.57A>G (p.Gln19=)	TECRL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3232343	NM_001010874.5(TECRL):c.515_516del (p.Lys172fs)	TECRL (K172fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 3232342	NM_001010874.5(TECRL):c.436-2A>G	TECRL	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 3232341	NM_001010874.5(TECRL):c.371T>C (p.Ile124Thr)	TECRL (I124T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232340	NM_001010874.5(TECRL):c.35G>A (p.Arg12His)	TECRL (R12H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232339	NM_001010874.5(TECRL):c.32_34dup (p.Glu11_Arg12insGln)	TECRL	Duplication (inframe_insertion)	Cardiovascular phenotype	GUncertain significance
Select item 3232338	NM_001010874.5(TECRL):c.311T>C (p.Val104Ala)	TECRL (V104A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232337	NM_001010874.5(TECRL):c.131G>A (p.Gly44Asp)	TECRL (G44D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232336	NM_001010874.5(TECRL):c.1019A>G (p.Lys340Arg)	TECRL (K340R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3232335	NM_001010874.5(TECRL):c.1000T>C (p.Ser334Pro)	TECRL (S334P)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3175655	NM_001010874.5(TECRL):c.92G>T (p.Arg31Ile)	TECRL (R31I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3175653	NM_001010874.5(TECRL):c.473A>G (p.Tyr158Cys)	TECRL (Y158C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3175652	NM_001010874.5(TECRL):c.430A>G (p.Thr144Ala)	TECRL (T144A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3175651	NM_001010874.5(TECRL):c.308G>A (p.Arg103Gln)	TECRL (R103Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3175650	NM_001010874.5(TECRL):c.113A>G (p.Lys38Arg)	TECRL (K38R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3175649	NM_001010874.5(TECRL):c.1069G>A (p.Ala357Thr)	TECRL (A357T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3043428	NM_001010874.5(TECRL):c.156C>A (p.Val52=)	TECRL	Single nucleotide variant (synonymous variant)	TECRL-related disorder	GLikely benign
Select item 3042725	NM_001010874.5(TECRL):c.235-10T>C	TECRL	Single nucleotide variant (intron variant)	TECRL-related disorder	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685970	GRCh37/hg19 4q13.1-13.3(chr4:63684557-71480358)x3	AMBN, AMTN +38 more	Copy number gain	not provided	GPathogenic
Select item 2685109	GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1	ADGRL3, AMBN +52 more	Copy number loss	not provided	GPathogenic
Select item 2654779	NM_001010874.5(TECRL):c.832+1284G>C	TECRL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2626087	NM_001010874.5(TECRL):c.90G>A (p.Met30Ile)	TECRL (M30I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2626086	NM_001010874.5(TECRL):c.261T>C (p.Asp87=)	TECRL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2626085	NM_001010874.5(TECRL):c.410T>C (p.Leu137Pro)	TECRL (L137P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2626084	NM_001010874.5(TECRL):c.1073T>A (p.Met358Lys)	TECRL (M358K)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2626083	NM_001010874.5(TECRL):c.106T>C (p.Leu36=)	TECRL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2612400	NM_001010874.5(TECRL):c.376G>C (p.Ala126Pro)	TECRL (A126P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2608071	NM_001010874.5(TECRL):c.332G>A (p.Gly111Asp)	TECRL (G111D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2579804	NM_001010874.5(TECRL):c.313G>C (p.Gly105Arg)	TECRL (G105R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578184	NM_001010874.5(TECRL):c.842C>A (p.Ala281Asp)	TECRL (A281D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2564186	NM_001010874.5(TECRL):c.145A>G (p.Thr49Ala)	TECRL (T49A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2564185	NM_001010874.5(TECRL):c.569A>G (p.His190Arg)	TECRL (H190R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2564184	NM_001010874.5(TECRL):c.774G>C (p.Leu258=)	TECRL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GUncertain significance
Select item 2564183	NM_001010874.5(TECRL):c.435+3_435+6del	TECRL	Deletion (splice donor variant)	Cardiovascular phenotype	GUncertain significance
Select item 2564182	NM_001010874.5(TECRL):c.523G>A (p.Ala175Thr)	TECRL (A175T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2564181	NM_001010874.5(TECRL):c.229G>C (p.Asp77His)	TECRL (D77H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2561832	NM_001010874.5(TECRL):c.843C>T (p.Ala281=)	TECRL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2548665	NM_001010874.5(TECRL):c.788G>T (p.Gly263Val)	TECRL (G263V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2504203	NM_001010874.5(TECRL):c.898T>C (p.Cys300Arg)	TECRL (C300R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497302	NM_001010874.5(TECRL):c.658-5T>C	TECRL	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 2497301	NM_001010874.5(TECRL):c.236T>C (p.Val79Ala)	TECRL (V79A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2449413	NM_001010874.5(TECRL):c.338C>A (p.Pro113His)	TECRL (P113H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2449411	NM_001010874.5(TECRL):c.199G>A (p.Ala67Thr)	TECRL (A67T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2449410	NM_001010874.5(TECRL):c.900T>C (p.Cys300=)	TECRL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2449409	NM_001010874.5(TECRL):c.175C>T (p.His59Tyr)	TECRL (H59Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2449408	NM_001010874.5(TECRL):c.35G>T (p.Arg12Leu)	TECRL (R12L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2449407	NM_001010874.5(TECRL):c.732A>G (p.Ser244=)	TECRL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2449406	NM_001010874.5(TECRL):c.457G>C (p.Gly153Arg)	TECRL (G153R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2442197	NM_001010874.5(TECRL):c.271_272del (p.Lys91fs)	TECRL (K91fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 3	GLikely pathogenic
Select item 2333253	NM_001010874.5(TECRL):c.853A>T (p.Ser285Cys)	TECRL (S285C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2325676	NM_001010874.5(TECRL):c.535C>T (p.Arg179Cys)	TECRL (R179C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2311207	NM_001010874.5(TECRL):c.25G>T (p.Ala9Ser)	TECRL (A9S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2295834	NM_001010874.5(TECRL):c.167A>C (p.Lys56Thr)	TECRL (K56T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2287689	NM_001010874.5(TECRL):c.490A>G (p.Arg164Gly)	TECRL (R164G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2279646	NM_001010874.5(TECRL):c.842C>T (p.Ala281Val)	TECRL (A281V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2245751	NM_001010874.5(TECRL):c.686C>T (p.Ser229Phe)	TECRL (S229F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2228968	NM_001010874.5(TECRL):c.168A>C (p.Lys56Asn)	TECRL (K56N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1878729	NM_001010874.5(TECRL):c.831A>C (p.Thr277=)	TECRL	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1804999	NM_001010874.5(TECRL):c.55C>T (p.Gln19Ter)	TECRL (Q19*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 3	GUncertain significance
Select item 1797666	NM_001010874.5(TECRL):c.291A>G (p.Pro97=)	TECRL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1797089	NM_001010874.5(TECRL):c.287-5A>C	TECRL	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 1797078	NM_001010874.5(TECRL):c.287-4A>G	TECRL	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 1796954	NM_001010874.5(TECRL):c.286+5G>A	TECRL	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 1796953	NM_001010874.5(TECRL):c.286+3A>G	TECRL	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 1794643	NM_001010874.5(TECRL):c.1009del (p.Ala337fs)	TECRL (A337fs)	Deletion (frameshift variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia 3 +1 more	GConflicting classifications of pathogenicity
Select item 1793652	NM_001010874.5(TECRL):c.25G>A (p.Ala9Thr)	TECRL (A9T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1793508	NM_001010874.5(TECRL):c.258T>C (p.His86=)	TECRL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign

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