"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 666629	NM_001042544.1(LTBP4):c.108G>A (p.Gln36=)	LTBP4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 189236	NM_003573.2(LTBP4):c.254del (p.Leu85fs)	LTBP4 (L122fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 228843	NM_003573.2(LTBP4):c.304A>G (p.Arg102Gly)	LTBP4 (R102G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 517252	NM_001042545.2(LTBP4):c.56_67dup (p.Leu19_Gln22dup)	LOC130064472, LTBP4	Duplication (inframe_insertion +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 226724	NM_001042545.2(LTBP4):c.135C>T (p.Cys45=)	LTBP4	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 403063	NM_001042545.2(LTBP4):c.211C>T (p.Pro71Ser)	LTBP4 (P71S)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 163945	NM_001042545.2(LTBP4):c.379G>A (p.Val127Ile)	LTBP4 (V127I +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +2 more	GBenign
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 506379	NM_001042545.2(LTBP4):c.1125G>A (p.Arg375=)	LTBP4	Single nucleotide variant (synonymous variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +2 more	GBenign
Select item 666710	NM_001042545.2(LTBP4):c.1158G>A (p.Glu386=)	LTBP4	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 178780	NM_001042545.2(LTBP4):c.1300T>A (p.Ser434Thr)	LTBP4 (S434T +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 179631	NM_001042545.2(LTBP4):c.1427-13C>G	LTBP4	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 329310	NM_001042545.2(LTBP4):c.1702C>G (p.Arg568Gly)	LTBP4 (R568G +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 506380	NM_001042545.2(LTBP4):c.1968C>T (p.Pro656=)	LTBP4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 386527	NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn)	LTBP4 (D685N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 226719	NM_003573.2(LTBP4):c.2144-11C>A	LTBP4	Single nucleotide variant (intron variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +2 more	GBenign
Select item 163946	NM_001042545.2(LTBP4):c.2158A>G (p.Thr720Ala)	LTBP4 (T720A +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 226720	NM_001042545.2(LTBP4):c.2175C>T (p.Cys725=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 178781	NM_001042545.2(LTBP4):c.2257A>G (p.Thr753Ala)	LTBP4 (T753A +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +2 more	GBenign
Select item 226721	NM_003573.2(LTBP4):c.2389+9A>G	LTBP4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 163947	NM_001042545.2(LTBP4):c.2565C>T (p.Asp855=)	LTBP4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 506381	NM_001042545.2(LTBP4):c.2812+6C>T	LTBP4	Single nucleotide variant (intron variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +2 more	GBenign
Select item 666712	NM_001042545.2(LTBP4):c.2989G>A (p.Val997Met)	LTBP4 (V1027M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 228316	NM_001042545.2(LTBP4):c.3035dup (p.Tyr1013fs)	LTBP4 (Y1080fs +2 more)	Duplication (frameshift variant)	not provided +2 more	GBenign
Select item 163948	NM_001042545.2(LTBP4):c.3066C>T (p.Cys1022=)	LTBP4	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 178782	NM_001042545.2(LTBP4):c.3221C>T (p.Thr1074Met)	LTBP4 (T1074M +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +2 more	GBenign/Likely benign
Select item 163949	NM_001042545.2(LTBP4):c.3258C>T (p.Pro1086=)	LTBP4	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 226722	NM_001042545.2(LTBP4):c.3327G>A (p.Val1109=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 505091	NM_001042545.2(LTBP4):c.3485C>T (p.Ala1162Val)	LTBP4 (A1162V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 163950	NM_001042545.2(LTBP4):c.3687C>T (p.Asp1229=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 666711	NM_001042545.2(LTBP4):c.3975G>A (p.Ala1325=)	LTBP4	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 871297	NM_001042545.2(LTBP4):c.4018C>T (p.Pro1340Ser)	LTBP4 (P1407S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 930148	NM_001042545.2(LTBP4):c.4165C>T (p.Pro1389Ser)	LTBP4 (P1456S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 228844	NM_001042545.2(LTBP4):c.4348G>C (p.Glu1450Gln)	LTBP4 (E1450Q +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 226723	NM_003573.2(LTBP4):c.4456+8C>T	LTBP4	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 389395	NM_001042545.2(LTBP4):c.4410C>T (p.Cys1470=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 228845	NM_001042545.2(LTBP4):c.4441T>C (p.Cys1481Arg)	LTBP4 (C1481R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 37