ClinVar for MedGen (Select 863994) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362752	NM_000888.5(ITGB6):c.871G>A (p.Gly291Arg)	ITGB6 (G153R +4 more)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta type 1H	GUncertain significance
Select item 2444003	NM_000888.5(ITGB6):c.718G>A (p.Glu240Lys)	ITGB6 (E102K +4 more)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta type 1H	GLikely pathogenic
Select item 1333183	NM_000888.5(ITGB6):c.1661-3C>G	ITGB6	Single nucleotide variant (intron variant)	Amelogenesis imperfecta type 1H	GLikely pathogenic
Select item 1333182	NM_000888.5(ITGB6):c.625G>T (p.Gly209Ter)	ITGB6 (G114* +4 more)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta type 1H	GPathogenic
Select item 790339	NM_000888.5(ITGB6):c.1312G>A (p.Val438Met)	ITGB6 (V300M +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 218475	NM_000888.5(ITGB6):c.2269-5del	ITGB6	Deletion (intron variant)	Amelogenesis imperfecta type 1H +2 more	GBenign
Select item 180686	NM_000888.5(ITGB6):c.586C>A (p.Pro196Thr)	ITGB6 (P196T +4 more)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta type 1H	GLikely pathogenic
Select item 180685	NM_000888.5(ITGB6):c.1846C>T (p.Arg616Ter)	ITGB6 (R616* +4 more)	Single nucleotide variant (nonsense +1 more)	Amelogenesis imperfecta type 1H	GPathogenic
Select item 180684	NM_000888.5(ITGB6):c.825T>A (p.His275Gln)	ITGB6 (H275Q +4 more)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta type 1H	GPathogenic
Select item 180683	NM_000888.5(ITGB6):c.427G>A (p.Ala143Thr)	ITGB6 (A143T +4 more)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta type 1H	GPathogenic