"Ambry Genetics"[submitter] AND "LOC130006030"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1582468	NM_001130144.3(LTBP3):c.2223C>G (p.Ala741=)	LOC130006030, LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1787950	NM_001130144.3(LTBP3):c.2222C>T (p.Ala741Val)	LOC130006030, LTBP3 (A624V +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome +1 more	GUncertain significance
Select item 532699	NM_001130144.3(LTBP3):c.2222C>G (p.Ala741Gly)	LOC130006030, LTBP3 (A741G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1787923	NM_001130144.3(LTBP3):c.2220G>A (p.Gly740=)	LTBP3, LOC130006030	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2562667	NM_001130144.3(LTBP3):c.2215G>A (p.Gly739Ser)	LOC130006030, LTBP3 (G622S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1572200	NM_001130144.3(LTBP3):c.2212G>A (p.Gly738Arg)	LOC130006030, LTBP3 (G621R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1480719	NM_001130144.3(LTBP3):c.2212G>C (p.Gly738Arg)	LOC130006030, LTBP3 (G621R +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome +1 more	GUncertain significance
Select item 2625052	NM_001130144.3(LTBP3):c.2205C>A (p.Arg735=)	LOC130006030, LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1375133	NM_001130144.3(LTBP3):c.2204G>A (p.Arg735His)	LOC130006030, LTBP3 (R618H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1787493	NM_001130144.3(LTBP3):c.2196T>G (p.Pro732=)	LOC130006030, LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1787336	NM_001130144.3(LTBP3):c.2186C>T (p.Ala729Val)	LOC130006030, LTBP3 (A612V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2562665	NM_001130144.3(LTBP3):c.2160C>T (p.Asn720=)	LOC130006030, LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1402053	NM_001130144.3(LTBP3):c.2141C>G (p.Pro714Arg)	LOC130006030, LTBP3 (P597R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance