C4748560[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 227135	NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn)	TSPEAR (D639N +1 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis +4 more	GConflicting classifications of pathogenicity
Select item 1197259	NM_144991.3(TSPEAR):c.1877T>C (p.Phe626Ser)	TSPEAR (F558S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 590273	NM_144991.3(TSPEAR):c.1852T>A (p.Tyr618Asn)	TSPEAR (Y618N +1 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	GPathogenic
Select item 1705559	NM_144991.3(TSPEAR):c.1785AGA[1] (p.Glu596del)	TSPEAR (E528del +1 more)	Microsatellite (inframe_deletion)	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis +1 more	GConflicting classifications of pathogenicity
Select item 504870	NM_144991.3(TSPEAR):c.1528C>T (p.Arg510Ter)	TSPEAR (R510* +1 more)	Single nucleotide variant (nonsense)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1801840	NM_144991.3(TSPEAR):c.1423G>C (p.Gly475Arg)	TSPEAR (G475R +1 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	GPathogenic
Select item 1801842	NM_144991.3(TSPEAR):c.48del (p.Gly17fs)	TSPEAR (G17fs)	Deletion (5 prime UTR variant +1 more)	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	GPathogenic