"CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern O - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 381369	NM_005159.5(ACTC1):c.*5C>G	ACTC1, GJD2-DT	Single nucleotide variant (3 prime UTR variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 180774	NM_005159.5(ACTC1):c.1112T>C (p.Ile371Thr)	GJD2-DT, ACTC1 (I371T)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 377437	NM_005159.5(ACTC1):c.1098G>A (p.Glu366=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +5 more	GLikely benign
Select item 1329277	NM_005159.5(ACTC1):c.1086_1088dup (p.Glu363dup)	ACTC1, GJD2-DT	Duplication (inframe_insertion)	Cardiomyopathy	GUncertain significance
Select item 45170	NM_005159.5(ACTC1):c.1053G>A (p.Leu351=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 626825	NM_005159.5(ACTC1):c.1038C>T (p.Ser346=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +5 more	GConflicting classifications of pathogenicity
Select item 1329279	NM_005159.5(ACTC1):c.997G>T (p.Ala333Ser)	ACTC1, GJD2-DT (A333S)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2194074	NM_005159.5(ACTC1):c.990+6G>C	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 11 +3 more	GUncertain significance
Select item 45194	NM_005159.5(ACTC1):c.927T>C (p.Pro309=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +7 more	GBenign/Likely benign
Select item 45192	NM_005159.5(ACTC1):c.903A>G (p.Leu301=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	not specified +6 more	GLikely benign
Select item 626826	NM_005159.5(ACTC1):c.891C>T (p.Ala297=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 180767	NM_005159.5(ACTC1):c.812T>C (p.Met271Thr)	ACTC1, GJD2-DT (M271T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 180765	NM_005159.5(ACTC1):c.769T>C (p.Phe257Leu)	ACTC1, GJD2-DT (F257L)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 765932	NM_005159.5(ACTC1):c.741C>A (p.Gly247=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Atrial septal defect 5 +4 more	GLikely benign
Select item 626827	NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp)	ACTC1, GJD2-DT (G247D)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GPathogenic/Likely pathogenic
Select item 2442959	NM_005159.5(ACTC1):c.631_642del (p.Val211_Ile214del)	GJD2-DT, ACTC1	Deletion (inframe_indel +1 more)	Cardiomyopathy	GUncertain significance
Select item 629346	NM_005159.5(ACTC1):c.617-7T>C	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 11 +5 more	GBenign/Likely benign
Select item 924648	NM_005159.5(ACTC1):c.540G>C (p.Leu180=)	GJD2-DT, ACTC1	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 180757	NM_005159.5(ACTC1):c.529A>G (p.Ile177Val)	GJD2-DT, ACTC1 (I177V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +3 more	GUncertain significance
Select item 2442857	NM_005159.5(ACTC1):c.516T>G (p.Ala172=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 180776	NM_005159.5(ACTC1):c.500T>C (p.Ile167Thr)	ACTC1, GJD2-DT (I167T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +5 more	GUncertain significance
Select item 377436	NM_005159.5(ACTC1):c.455-7C>T	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1R +4 more	GLikely benign
Select item 45178	NM_005159.5(ACTC1):c.454+9G>A	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 379043	NM_005159.5(ACTC1):c.399C>T (p.Ala133=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1R +6 more	GLikely benign
Select item 45177	NM_005159.5(ACTC1):c.372C>G (p.Ile124Met)	ACTC1, GJD2-DT (I124M)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 220307	NM_005159.5(ACTC1):c.333G>A (p.Pro111=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GLikely benign
Select item 18331	NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)	ACTC1, GJD2-DT (E101K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GPathogenic/Likely pathogenic
Select item 136280	NM_005159.5(ACTC1):c.270C>T (p.His90=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 45172	NM_005159.5(ACTC1):c.219C>T (p.Ile73=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +7 more	GBenign/Likely benign
Select item 538805	NM_005159.5(ACTC1):c.178G>A (p.Ala60Thr)	ACTC1, GJD2-DT (A60T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 11 +4 more	GUncertain significance
Select item 162708	NM_005159.5(ACTC1):c.165C>T (p.Tyr55=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GLikely benign
Select item 915805	NM_005159.5(ACTC1):c.130-3T>C	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1R +3 more	GUncertain significance
Select item 416057	NM_005159.5(ACTC1):c.130-9T>C	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1R +4 more	GConflicting classifications of pathogenicity
Select item 517958	NM_005159.5(ACTC1):c.129+6C>G	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +6 more	GBenign/Likely benign
Select item 1329278	NM_005159.5(ACTC1):c.129+3A>G	ACTC1, GJD2-DT	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1R +3 more	GUncertain significance
Select item 927700	NM_005159.5(ACTC1):c.93T>C (p.Ala31=)	ACTC1, GJD2-DT	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 11 +6 more	GLikely benign
Select item 50936	NM_005159.5(ACTC1):c.28C>A (p.Leu10Met)	ACTC1, GJD2-DT (L10M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity

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Items: 37