Related gene-specific medical variations for Gene (Select 4052) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2562969	NM_206943.4(LTBP1):c.129G>T (p.Leu43Phe)	LOC129933461, LTBP1 (L43F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315300	NM_206943.4(LTBP1):c.412G>C (p.Val138Leu)	LOC129933462, LTBP1 (V138L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253850	NM_206943.4(LTBP1):c.101C>A (p.Pro34Gln)	LOC129933461, LTBP1 (P34Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223102	NM_206943.4(LTBP1):c.164A>G (p.Asn55Ser)	LTBP1, LOC129933461 (N55S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1342584	NM_206943.4(LTBP1):c.340C>T (p.Pro114Ser)	LTBP1 (P114S)	Single nucleotide variant (missense variant)	Congenital heart disease	GUncertain significance
Select item 814231	GRCh37/hg19 2p22.3(chr2:33318508-33508810)x1	LTBP1	Copy number loss	not provided	GUncertain significance
Select item 814230	GRCh37/hg19 2p22.3(chr2:33090481-33214793)x1	LTBP1	Copy number loss	not provided	GUncertain significance

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