"GeneDx"[submitter] AND "LOC121627876"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 727454	NM_001042545.2(LTBP4):c.814G>T (p.Ala272Ser)	LOC121627876, LTBP4 (A272S +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1312815	NM_001042545.2(LTBP4):c.827C>T (p.Pro276Leu)	LOC121627876, LTBP4 (P276L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 329305	NM_001042545.2(LTBP4):c.858G>A (p.Gly286=)	LOC121627876, LTBP4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 513771	NM_001042545.2(LTBP4):c.864C>T (p.Cys288=)	LOC121627876, LTBP4	Single nucleotide variant (synonymous variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +2 more	GConflicting classifications of pathogenicity
Select item 504729	NM_001042545.2(LTBP4):c.891C>T (p.Gly297=)	LOC121627876, LTBP4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 508289	NM_001042545.2(LTBP4):c.924G>C (p.Thr308=)	LOC121627876, LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 506437	NM_001042545.2(LTBP4):c.930C>T (p.Gly310=)	LOC121627876, LTBP4	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1706858	NM_001042545.2(LTBP4):c.932G>T (p.Gly311Val)	LOC121627876, LTBP4 (G311V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance