"GeneDx"[submitter] AND "CALM1"[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	Catecholaminergic polymorphic ventricular tachycardia 4 +3 more	GBenign/Likely benign
Select item 391901	NM_006888.6(CALM1):c.18C>T (p.Thr6=)	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 3371665	NM_006888.6(CALM1):c.28A>G (p.Ile10Val)	CALM1 (I10V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
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 513549	NM_006888.6(CALM1):c.35-13del	CALM1	Deletion (intron variant)	not specified +2 more	GLikely benign
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 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 1312405	NM_006888.6(CALM1):c.144_146del (p.Leu49del)	CALM1 (L13del +2 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
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 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 509030	NM_006888.6(CALM1):c.179-15del	CALM1	Deletion (intron variant)	not specified	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 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 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 1712675	NM_006888.6(CALM1):c.299A>G (p.Tyr100Cys)	CALM1 (Y100C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 475381	NM_006888.6(CALM1):c.303C>T (p.Ile101=)	CALM1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +4 more	GBenign/Likely benign
Select item 388500	NM_006888.6(CALM1):c.313G>A (p.Glu105Lys)	CALM1 (E105K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1338938	NM_006888.6(CALM1):c.319C>T (p.Arg107Cys)	CALM1 (R107C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 389896	NM_006888.6(CALM1):c.324C>T (p.His108=)	CALM1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 3363924	NM_006888.6(CALM1):c.382G>C (p.Glu128Gln)	CALM1, LOC126862021 (E128Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 418107	NM_006888.6(CALM1):c.419A>T (p.Glu140Val)	CALM1, LOC126862021 (E140V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 423014	NM_006888.6(CALM1):c.421+7_421+10del	CALM1, LOC126862021	Deletion (intron variant)	not specified +2 more	GLikely benign
Select item 515960	NM_006888.6(CALM1):c.422-16dup	CALM1, LOC126862021	Duplication (intron variant)	not specified +2 more	GLikely benign
Select item 1307870	NM_006888.6(CALM1):c.422-6T>G	CALM1, LOC126862021	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 426161	NM_006888.6(CALM1):c.424T>C (p.Phe142Leu)	CALM1, LOC126862021 (F142L +2 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +2 more	GPathogenic
Select item 3361035	NM_006888.6(CALM1):c.419A>C (p.Glu140Ala)	CALM1 (E104A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 54