ClinVar for MedGen (Select 336847) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2445234	NM_001142.2(AMELX):c.47C>A (p.Ala16Asp)	AMELX, ARHGAP6 (A16D)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta type 1E	GLikely pathogenic
Select item 1323884	NM_001142.2(AMELX):c.289C>T (p.Gln97Ter)	AMELX, ARHGAP6 (Q111* +2 more)	Single nucleotide variant (nonsense +1 more)	Amelogenesis imperfecta type 1E	GLikely pathogenic
Select item 11146	NM_001142.2(AMELX):c.11G>C (p.Trp4Ser)	AMELX, ARHGAP6 (W4S)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta type 1E	GPathogenic
Select item 11145	NM_001142.2(AMELX):c.2T>C (p.Met1Thr)	AMELX, ARHGAP6 (M1T)	Single nucleotide variant (missense variant +2 more)	Amelogenesis imperfecta type 1E	GPathogenic
Select item 11144	NM_001142.2(AMELX):c.378del (p.Tyr127fs)	AMELX, ARHGAP6 (Y111fs +2 more)	Deletion (frameshift variant +1 more)	Amelogenesis imperfecta type 1E	GPathogenic
Select item 11143	NM_001142.2(AMELX):c.499del (p.Leu167fs)	AMELX, ARHGAP6 (L181fs +2 more)	Deletion (frameshift variant +1 more)	Amelogenesis imperfecta type 1E	GPathogenic
Select item 11142	NM_001142.2(AMELX):c.166C>A (p.Pro56Thr)	AMELX, ARHGAP6 (P70T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 11141	NM_001142.2(AMELX):c.529G>T (p.Glu177Ter)	AMELX, ARHGAP6 (E191* +2 more)	Single nucleotide variant (nonsense +1 more)	Amelogenesis imperfecta type 1E	GPathogenic
Select item 11140	NM_001142.2(AMELX):c.110C>T (p.Thr37Ile)	AMELX, ARHGAP6 (T51I +2 more)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta type 1E	GPathogenic
Select item 11139	NM_001142.2(AMELX):c.431del (p.Pro144fs)	AMELX, ARHGAP6 (P128fs +2 more)	Deletion (frameshift variant +1 more)	Amelogenesis imperfecta type 1E	GPathogenic
Select item 11138	NM_001142.2(AMELX):c.14_22del (p.Ile5_Ala8delinsThr)	AMELX, ARHGAP6	Deletion (inframe_indel +1 more)	Amelogenesis imperfecta type 1E	GPathogenic
Select item 11137	NM_001142.2(AMELX):c.113del (p.Pro38fs)	AMELX, ARHGAP6 (P22fs +2 more)	Deletion (frameshift variant +1 more)	Amelogenesis imperfecta type 1E	GPathogenic
Select item 11136	NM_001287242.1(ARHGAP6):c.49-45951_49-41228del	AMELX, ARHGAP6	Deletion	Amelogenesis imperfecta type 1E	GPathogenic