ClinVar for Gene (Select 121627876) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2970709	NM_001042545.2(LTBP4):c.868+16G>A	LOC121627876, LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957237	NM_001042545.2(LTBP4):c.868+11del	LOC121627876, LTBP4	Deletion (intron variant)	not provided	GBenign
Select item 2901977	NM_001042545.2(LTBP4):c.942T>A (p.Cys314Ter)	LOC121627876, LTBP4 (C344* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2892433	NM_001042545.2(LTBP4):c.961C>T (p.Leu321=)	LOC121627876, LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876813	NM_001042545.2(LTBP4):c.891C>A (p.Gly297=)	LOC121627876, LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871878	NM_001042545.2(LTBP4):c.794-5C>T	LOC121627876, LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810706	NM_001042545.2(LTBP4):c.882C>A (p.Cys294Ter)	LOC121627876, LTBP4 (C294* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2751037	NM_001042545.2(LTBP4):c.868+7C>T	LOC121627876, LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2486556	NM_001042545.2(LTBP4):c.974C>T (p.Ser325Phe)	LOC121627876, LTBP4 (S392F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2098391	NM_001042545.2(LTBP4):c.938C>T (p.Thr313Met)	LOC121627876, LTBP4 (T380M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902930	NM_001042545.2(LTBP4):c.977G>A (p.Arg326His)	LOC121627876, LTBP4 (R356H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1896434	NM_001042545.2(LTBP4):c.966C>A (p.Leu322=)	LOC121627876, LTBP4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1706858	NM_001042545.2(LTBP4):c.932G>T (p.Gly311Val)	LTBP4, LOC121627876 (G311V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1637847	NM_001042545.2(LTBP4):c.945G>A (p.Val315=)	LOC121627876, LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1635220	NM_001042545.2(LTBP4):c.794-7G>A	LOC121627876, LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1551136	NM_001042545.2(LTBP4):c.869-17C>A	LOC121627876, LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1534037	NM_001042545.2(LTBP4):c.840C>G (p.Gly280=)	LOC121627876, LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1496054	NM_001042545.2(LTBP4):c.923C>T (p.Thr308Met)	LOC121627876, LTBP4 (T338M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486902	NM_001042545.2(LTBP4):c.869-20G>A	LOC121627876, LTBP4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1013161	NM_001042545.2(LTBP4):c.954C>T (p.Asp318=)	LOC121627876, LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 894769	NM_001042545.2(LTBP4):c.832C>G (p.Pro278Ala)	LOC121627876, LTBP4 (P308A +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
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 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 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 504729	NM_001042545.2(LTBP4):c.891C>T (p.Gly297=)	LOC121627876, LTBP4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 329305	NM_001042545.2(LTBP4):c.858G>A (p.Gly286=)	LOC121627876, LTBP4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 30