"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar - NCBI

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

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 227494	NM_007078.3(LDB3):c.689+3861C>T	LDB3, LOC110121486	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4 +4 more	GConflicting classifications of pathogenicity
Select item 43874	NM_001368067.1(LDB3):c.324G>T (p.Val108=)	LDB3, LOC110121486	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 227495	NM_001368067.1(LDB3):c.327A>G (p.Val109=)	LDB3, LOC110121486	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 43876	NM_007078.3(LDB3):c.690-4842G>T	LDB3, LOC110121486	Single nucleotide variant (intron variant)	not specified +1 more	GLikely 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 179951	NM_007078.3(LDB3):c.690-4832C>T	LDB3, LOC110121486	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 43877	NM_001368067.1(LDB3):c.348C>T (p.Ala116=)	LDB3, LOC110121486	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely 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)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 179926	NM_001368067.1(LDB3):c.415G>A (p.Glu139Lys)	LDB3, LOC110121486 (E139K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 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 43878	NM_001368067.1(LDB3):c.456G>T (p.Ala152=)	LOC110121486, LDB3	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar Myopathy, Dominant +4 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)	not specified +6 more	GBenign/Likely benign
Select item 163835	NM_001368067.1(LDB3):c.511G>A (p.Ala171Thr)	LDB3, LOC110121486 (A171T +1 more)	Single nucleotide variant (missense variant +1 more)	LDB3-related condition +4 more	GConflicting classifications of pathogenicity
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