"Revvity Omics, Revvity"[submitter] AND "LDB3"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433418	NM_007078.3(LDB3):c.-2G>A	LDB3, LOC130004243	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 201856	NM_007078.3(LDB3):c.54G>T (p.Gln18His)	LDB3 (Q18H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1C +4 more	GUncertain significance
Select item 651199	NM_007078.3(LDB3):c.55G>A (p.Gly19Arg)	LDB3 (G19R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1026525	NM_007078.3(LDB3):c.145G>A (p.Val49Met)	LDB3 (V49M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 864365	NM_007078.3(LDB3):c.145G>C (p.Val49Leu)	LDB3 (V49L)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +3 more	GUncertain significance
Select item 191694	NM_007078.3(LDB3):c.254G>A (p.Arg85His)	LDB3 (R85H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 853598	NM_007078.3(LDB3):c.281C>T (p.Pro94Leu)	LDB3 (P94L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2433419	NM_007078.3(LDB3):c.321+1G>A	LDB3	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 862142	NM_001368067.1(LDB3):c.345C>T (p.Asn115=)	LDB3, LOC110121486	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 191696	NM_001368067.1(LDB3):c.346G>A (p.Ala116Thr)	LDB3, LOC110121486 (A116T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1422447	NM_001368067.1(LDB3):c.358G>A (p.Glu120Lys)	LDB3, LOC110121486 (E120K +1 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4 +1 more	GUncertain significance
Select item 201860	NM_001368067.1(LDB3):c.370C>A (p.Pro124Thr)	LDB3, LOC110121486 (P124T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
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 522902	NM_001368067.1(LDB3):c.430G>A (p.Gly144Ser)	LDB3, LOC110121486 (G144S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 4727	NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr)	LDB3, LOC110121486 (A147T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
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 +5 more	GPathogenic/Likely pathogenic
Select item 163835	NM_001368067.1(LDB3):c.511G>A (p.Ala171Thr)	LDB3, LOC110121486 (A171T +1 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4 +3 more	GConflicting classifications of pathogenicity
Select item 2433421	NM_001368067.1(LDB3):c.527C>T (p.Ala176Val)	LDB3, LOC110121486 (A176V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1482488	NM_007078.3(LDB3):c.713C>A (p.Ala238Asp)	LDB3 (A238D +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +2 more	GUncertain significance
Select item 960651	NM_007078.3(LDB3):c.724G>A (p.Ala242Thr)	LDB3 (A195T +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +3 more	GUncertain significance
Select item 972169	NM_007078.3(LDB3):c.769G>C (p.Glu257Gln)	LDB3 (E257Q +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +2 more	GUncertain significance
Select item 45555	NM_007078.3(LDB3):c.793C>T (p.Arg265Cys)	LDB3 (R218C +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +4 more	GConflicting classifications of pathogenicity
Select item 201843	NM_007078.3(LDB3):c.794G>A (p.Arg265His)	LDB3 (R218H +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 845719	NM_007078.3(LDB3):c.796C>T (p.Arg266Cys)	LDB3 (R334C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1421202	NM_007078.3(LDB3):c.859A>G (p.Met287Val)	LDB3 (M287V +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +1 more	GUncertain significance
Select item 191699	NM_007078.3(LDB3):c.887G>A (p.Arg296Gln)	LDB3 (R249Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1011881	NM_001368067.1(LDB3):c.788G>A (p.Arg263His)	LDB3 (R263H +2 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4 +1 more	GUncertain significance
Select item 836699	NM_001368067.1(LDB3):c.803G>A (p.Arg268His)	LDB3 (R383H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 532930	NM_001368067.1(LDB3):c.817G>A (p.Gly273Ser)	LDB3 (G273S +2 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4 +1 more	GUncertain significance

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Items: 29