C1832244[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138106	NM_007078.3(LDB3):c.-24+8T>C	LDB3	Single nucleotide variant (5 prime UTR variant +1 more)	Left ventricular noncompaction cardiomyopathy +4 more	GBenign/Likely benign
Select item 301330	NM_007078.3(LDB3):c.-24+41G>A	LDB3	Single nucleotide variant (5 prime UTR variant +1 more)	Myofibrillar Myopathy, Dominant +3 more	GUncertain significance
Select item 880080	NM_007078.3(LDB3):c.-20C>T	LDB3, LOC130004243	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1C +1 more	GUncertain significance
Select item 301332	NM_007078.3(LDB3):c.30C>G (p.Pro10=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar Myopathy, Dominant +3 more	GUncertain significance
Select item 45530	NM_007078.3(LDB3):c.163G>A (p.Val55Ile)	LDB3 (V55I)	Single nucleotide variant (missense variant)	Myofibrillar Myopathy, Dominant +7 more	GBenign/Likely benign
Select item 43875	NM_007078.3(LDB3):c.690-4842G>A	LDB3, LOC110121486	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 4733	NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn)	LDB3, LOC110121486 (D117N +1 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 179019	NM_001368067.1(LDB3):c.456G>A (p.Ala152=)	LDB3, LOC110121486	Single nucleotide variant (synonymous variant +1 more)	Dilated Cardiomyopathy, Dominant +5 more	GConflicting classifications of pathogenicity
Select item 4728	NM_001368067.1(LDB3):c.494C>T (p.Ala165Val)	LDB3, LOC110121486 (A165V +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 43879	NM_001368067.1(LDB3):c.504T>C (p.Asp168=)	LDB3, LOC110121486	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 4 +6 more	GBenign/Likely benign
Select item 43880	NM_001368067.1(LDB3):c.546T>C (p.Ser182=)	LDB3, LOC110121486	Single nucleotide variant (synonymous variant +1 more)	Left ventricular noncompaction cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 301336	NM_007078.3(LDB3):c.723C>T (p.Ser241=)	LDB3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 36449	NM_007078.3(LDB3):c.752A>G (p.Lys251Arg)	LDB3 (K204R +2 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction cardiomyopathy +8 more	GBenign/Likely benign
Select item 880174	NM_007078.3(LDB3):c.818G>A (p.Arg273His)	LDB3 (R341H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 880175	NM_007078.3(LDB3):c.896+6695T>C	LDB3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1C +1 more	GUncertain significance
Select item 877397	NM_007078.3(LDB3):c.896+6814G>A	LDB3	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1C +1 more	GUncertain significance
Select item 877398	NM_007078.3(LDB3):c.896+6872G>A	LDB3	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1C +1 more	GUncertain significance
Select item 301337	NM_007078.3(LDB3):c.896+6957G>A	LDB3	Single nucleotide variant (3 prime UTR variant +1 more)	Myofibrillar Myopathy, Dominant +3 more	GUncertain significance
Select item 301339	NM_007078.3(LDB3):c.897-6909G>A	LDB3	Single nucleotide variant (intron variant +1 more)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 879009	NM_007078.3(LDB3):c.897-6861G>A	LDB3	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1C +1 more	GUncertain significance
Select item 301341	NM_007078.3(LDB3):c.897-6831C>T	LDB3	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 877456	NM_007078.3(LDB3):c.897-6745C>T	LDB3	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1C +1 more	GUncertain significance
Select item 877457	NM_007078.3(LDB3):c.897-6719C>T	LDB3	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1C +1 more	GUncertain significance
Select item 301342	NM_007078.3(LDB3):c.897-6707G>A	LDB3	Single nucleotide variant (3 prime UTR variant +1 more)	Myofibrillar Myopathy, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 878478	NM_007078.3(LDB3):c.897-6702C>G	LDB3	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1C +1 more	GUncertain significance
Select item 878479	NM_007078.3(LDB3):c.897-6700G>A	LDB3	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1C +1 more	GUncertain significance
Select item 878480	NM_007078.3(LDB3):c.897-6692C>T	LDB3	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1C +1 more	GUncertain significance
Select item 879063	NM_007078.3(LDB3):c.897-6664G>A	LDB3	Single nucleotide variant (3 prime UTR variant +1 more)	Myofibrillar myopathy 4 +1 more	GUncertain significance
Select item 301344	NM_007078.3(LDB3):c.897-6525T>C	LDB3	Single nucleotide variant (3 prime UTR variant +1 more)	Myofibrillar Myopathy, Dominant +3 more	GUncertain significance

ClinVar

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Items: 29