ClinVar for MedGen (Select 1854533) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 30930	NM_198488.5(FAM83H):c.1366C>T (p.Gln456Ter)	FAM83H (Q456*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta, type 3A	GPathogenic
Select item 781	NM_198488.5(FAM83H):c.1379G>A (p.Trp460Ter)	FAM83H (W460*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta, type 3A +1 more	GPathogenic
Select item 780	NM_198488.5(FAM83H):c.923_924del (p.Leu308fs)	FAM83H (L308fs)	Microsatellite (frameshift variant)	Amelogenesis imperfecta, type 3A	GPathogenic
Select item 779	NM_198488.5(FAM83H):c.1872_1873del (p.Leu625fs)	FAM83H (L625fs)	Deletion (frameshift variant)	Amelogenesis imperfecta, type 3A	GPathogenic
Select item 778	NM_198488.5(FAM83H):c.2080G>T (p.Glu694Ter)	FAM83H (E694*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta, type 3A	GPathogenic
Select item 777	NM_198488.5(FAM83H):c.860C>A (p.Ser287Ter)	FAM83H (S287*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta, type 3A	GPathogenic
Select item 776	NM_198488.5(FAM83H):c.1408C>T (p.Gln470Ter)	FAM83H (Q470*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta, hypocalcification type +1 more	GPathogenic
Select item 775	NM_198488.5(FAM83H):c.2029C>T (p.Gln677Ter)	FAM83H (Q677*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 774	NM_198488.5(FAM83H):c.1380G>A (p.Trp460Ter)	FAM83H (W460*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta, type 3A	GPathogenic
Select item 773	NM_198488.5(FAM83H):c.891T>A (p.Tyr297Ter)	FAM83H (Y297*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta, type 3A	GPathogenic
Select item 772	NM_198488.5(FAM83H):c.1243G>T (p.Glu415Ter)	FAM83H (E415*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta, type 3A	GPathogenic
Select item 771	NM_198488.5(FAM83H):c.1192C>T (p.Gln398Ter)	FAM83H (Q398*)	Single nucleotide variant (nonsense)	FAM83H-related disorder +1 more	GPathogenic
Select item 770	NM_198488.5(FAM83H):c.973C>T (p.Arg325Ter)	FAM83H (R325*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta, hypocalcification type	GPathogenic