801[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 167

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 673493	NM_006888.4(CALM1):c.-540G>T	CALM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670029	NM_006888.4(CALM1):c.-390C>T	CALM1, LOC112272566	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683288	NM_006888.4(CALM1):c.-372G>T	CALM1, LOC112272566	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199734	NM_001363669.2(CALM1):c.-106+211G>C	CALM1, LOC112272566	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1164456	NC_000014.9:g.90397013C>T	CALM1, LOC112272566	Single nucleotide variant (intron variant)	Long QT syndrome 14 +2 more	GBenign
Select item 679116	NM_006888.6(CALM1):c.-168C>T	CALM1, LOC112272566	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1219590	NM_006888.6(CALM1):c.-161C>T	CALM1, LOC112272566	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1217609	NM_006888.6(CALM1):c.-123G>T	CALM1, LOC112272566	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 674613	NM_006888.6(CALM1):c.-86G>A	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GBenign
Select item 422480	NM_006888.6(CALM1):c.-37_-36dup	CALM1	Duplication (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 506366	NM_006888.6(CALM1):c.-32C>T	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1926605	NM_006888.6(CALM1):c.3+10G>C	CALM1, LOC130056272	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 1625710	NM_006888.6(CALM1):c.3+13T>C	CALM1, LOC130056272	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 2932053	NM_006888.6(CALM1):c.3+14G>T	CALM1, LOC130056272	Single nucleotide variant (intron variant)	Long QT syndrome 14 +1 more	GLikely benign
Select item 683300	NM_006888.6(CALM1):c.3+293C>T	CALM1, LOC130056273	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670032	NM_006888.6(CALM1):c.3+298G>T	CALM1, LOC130056273	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204542	NM_006888.6(CALM1):c.3+331C>A	CALM1, LOC130056273	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676355	NM_006888.6(CALM1):c.4-129A>G	CALM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674614	NM_006888.6(CALM1):c.4-63C>T	CALM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 389903	NM_006888.6(CALM1):c.4-10C>G	CALM1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1086423	NM_006888.6(CALM1):c.4-9T>A	CALM1	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 2061196	NM_006888.6(CALM1):c.4-7C>T	CALM1	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 2027345	NM_006888.6(CALM1):c.4-6A>T	CALM1	Single nucleotide variant (intron variant)	Long QT syndrome 14 +1 more	GLikely benign
Select item 1740325	NM_006888.6(CALM1):c.4-3T>C	CALM1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1782265	NM_006888.6(CALM1):c.18C>G (p.Thr6=)	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 391901	NM_006888.6(CALM1):c.18C>T (p.Thr6=)	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome 14 +3 more	GLikely benign
Select item 2934173	NM_006888.6(CALM1):c.27G>A (p.Gln9=)	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome 14 +1 more	GLikely benign
Select item 2140608	NM_006888.6(CALM1):c.34+12A>G	CALM1	Single nucleotide variant (intron variant)	Long QT syndrome 14 +1 more	GLikely benign
Select item 1568949	NM_006888.6(CALM1):c.34+12A>C	CALM1	Single nucleotide variant (intron variant)	Long QT syndrome 14 +1 more	GLikely benign
Select item 1576161	NM_006888.6(CALM1):c.34+16C>T	CALM1	Single nucleotide variant (intron variant)	Long QT syndrome 14 +1 more	GLikely benign
Select item 518155	NM_006888.6(CALM1):c.34+19G>T	CALM1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 676356	NM_006888.6(CALM1):c.34+29G>A	CALM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231725	NM_006888.6(CALM1):c.35-289_35-288del	CALM1	Deletion (intron variant)	not provided	GBenign
Select item 1201320	NM_006888.6(CALM1):c.35-290_35-288del	CALM1	Deletion (intron variant)	not provided	GLikely benign
Select item 2011416	NM_006888.6(CALM1):c.35-19G>A	CALM1	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 2004319	NM_006888.6(CALM1):c.35-14A>G	CALM1	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 513549	NM_006888.6(CALM1):c.35-13del	CALM1	Deletion (intron variant)	not specified +2 more	GLikely benign
Select item 1749729	NM_006888.6(CALM1):c.57A>G (p.Leu19=)	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1752706	NM_006888.6(CALM1):c.62A>G (p.Asp21Gly)	CALM1 (D21G +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 422483	NM_006888.6(CALM1):c.67G>T (p.Asp23Tyr)	CALM1 (D23Y +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 475382	NM_006888.6(CALM1):c.69T>C (p.Asp23=)	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome 14 +2 more	GLikely benign
Select item 2061992	NM_006888.6(CALM1):c.70G>A (p.Gly24Ser)	CALM1 (G25S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GUncertain significance
Select item 162063	NM_006888.6(CALM1):c.72C>T (p.Gly24=)	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 475383	NM_006888.6(CALM1):c.78C>T (p.Gly26=)	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome 14 +2 more	GConflicting classifications of pathogenicity
Select item 1763634	NM_006888.6(CALM1):c.84C>T (p.Ile28=)	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1671658	NM_006888.6(CALM1):c.87A>C (p.Thr29=)	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 384090	NM_006888.6(CALM1):c.88A>C (p.Thr30Pro)	CALM1 (T30P +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 1136143	NM_006888.6(CALM1):c.90A>C (p.Thr30=)	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 845207	NM_006888.6(CALM1):c.106G>C (p.Val36Leu)	CALM1 (V37L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome 14 +1 more	GUncertain significance
Select item 1639895	NM_006888.6(CALM1):c.108C>T (p.Val36=)	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 1632430	NM_006888.6(CALM1):c.118C>T (p.Leu40=)	CALM1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 1312405	NM_006888.6(CALM1):c.144_146del (p.Leu49del)	CALM1 (L13del +2 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2927571	NM_006888.6(CALM1):c.150G>A (p.Gln50=)	CALM1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 475380	NM_006888.6(CALM1):c.157A>G (p.Ile53Val)	CALM1 (I53V +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 14 +1 more	GUncertain significance
Select item 39757	NM_006888.6(CALM1):c.161A>T (p.Asn54Ile)	CALM1 (N54I +2 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 4	GLikely pathogenic
Select item 2922042	NM_006888.6(CALM1):c.178+16C>A	CALM1	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 389684	NM_006888.6(CALM1):c.178+18A>G	CALM1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 2083367	NM_006888.6(CALM1):c.178+20G>T	CALM1	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 1234195	NM_006888.6(CALM1):c.178+269dup	CALM1	Duplication (intron variant)	not provided	GBenign
Select item 1264597	NM_006888.6(CALM1):c.178+266_178+269del	CALM1	Deletion (intron variant)	not provided	GBenign
Select item 1190038	NM_006888.6(CALM1):c.178+269del	CALM1	Deletion (intron variant)	not provided	GLikely benign
Select item 668719	NM_006888.6(CALM1):c.179-293C>T	CALM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235781	NM_006888.6(CALM1):c.179-108T>C	CALM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674913	NM_006888.6(CALM1):c.179-88G>A	CALM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2922405	NM_006888.6(CALM1):c.179-17T>G	CALM1	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 2928298	NM_006888.6(CALM1):c.179-9dup	CALM1	Duplication (intron variant)	Long QT syndrome 14 +1 more	GBenign
Select item 509030	NM_006888.6(CALM1):c.179-15del	CALM1	Deletion (intron variant)	not specified	GLikely benign
Select item 1997793	NM_006888.6(CALM1):c.179-14T>C	CALM1	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 2142518	NM_006888.6(CALM1):c.179-4C>T	CALM1	Single nucleotide variant (intron variant)	Long QT syndrome 14 +1 more	GLikely benign
Select item 2451212	NM_006888.6(CALM1):c.179-3G>A	CALM1	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 1532952	NM_006888.6(CALM1):c.183T>C (p.Asn61=)	CALM1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 1781652	NM_006888.6(CALM1):c.186C>T (p.Gly62=)	CALM1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2200109	NM_006888.6(CALM1):c.198C>T (p.Phe66=)	CALM1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 785182	NM_006888.6(CALM1):c.201C>T (p.Pro67=)	CALM1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1810153	NM_006888.6(CALM1):c.210G>T (p.Leu70Phe)	CALM1 (L34F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981618	NM_006888.6(CALM1):c.213T>C (p.Thr71=)	CALM1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 1620746	NM_006888.6(CALM1):c.225A>G (p.Arg75=)	CALM1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 2158816	NM_006888.6(CALM1):c.234A>G (p.Lys78=)	CALM1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2930935	NM_006888.6(CALM1):c.237T>C (p.Asp79=)	CALM1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 1793782	NM_006888.6(CALM1):c.260G>A (p.Arg87His)	CALM1 (R51H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2586132	NM_006888.6(CALM1):c.264G>A (p.Glu88=)	CALM1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +2 more	GLikely benign
Select item 1127747	NM_006888.6(CALM1):c.267A>G (p.Ala89=)	CALM1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 183232	NM_006888.6(CALM1):c.268T>C (p.Phe90Leu)	CALM1 (F90L +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 14	GLikely pathogenic
Select item 542138	NM_006888.6(CALM1):c.273A>G (p.Arg91=)	CALM1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 3365221	NM_006888.6(CALM1):c.275T>C (p.Val92Ala)	CALM1 (V56A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 945682	NM_006888.6(CALM1):c.280G>C (p.Asp94His)	CALM1 (D94H +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 14 +1 more	GUncertain significance
Select item 2196802	NM_006888.6(CALM1):c.285+12T>A	CALM1	Single nucleotide variant (intron variant)	Long QT syndrome 14 +1 more	GLikely benign
Select item 2040672	NM_006888.6(CALM1):c.285+15A>G	CALM1	Single nucleotide variant (intron variant)	Long QT syndrome 14 +1 more	GLikely benign
Select item 1591527	NM_006888.6(CALM1):c.285+17A>G	CALM1	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 1601848	NM_006888.6(CALM1):c.285+20G>T	CALM1	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 1213672	NM_006888.6(CALM1):c.285+110G>A	CALM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215202	NM_006888.6(CALM1):c.285+168C>T	CALM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189337	NM_006888.6(CALM1):c.286-141A>C	CALM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2952258	NM_006888.6(CALM1):c.286-9T>C	CALM1	Single nucleotide variant (intron variant)	Long QT syndrome 14 +1 more	GLikely benign

<< First< Prev

Page of 2