Related gene-specific medical variations for Gene (Select 84131) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370363	CEP78, PRO392LEU	CEP78	Single nucleotide variant	Cone-rod dystrophy and hearing loss 1	GPathogenic
Select item 3370362	CEP78, SER147LEU	CEP78	Single nucleotide variant	Cone-rod dystrophy and hearing loss 1	GPathogenic
Select item 1527528	GRCh37/hg19 9q21.2(chr9:80756063-80906810)	CEP78	Copy number loss	not specified	GUncertain significance
Select item 1184867	NM_001330691.3(CEP78):c.827del (p.Leu276fs)	CEP78 (L276fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 930950	NM_001330691.3(CEP78):c.1601T>G (p.Phe534Cys)	CEP78 (F534C +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy and hearing loss 1	GUncertain significance
Select item 867155	NM_001330691.3(CEP78):c.211del (p.Val71fs)	CEP78 (V71fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866101	NM_001330691.3(CEP78):c.1417G>T (p.Glu473Ter)	CEP78 (E473* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 866098	NM_001330691.3(CEP78):c.62_64dup (p.Tyr21_Leu22insHis)	CEP78	Duplication (inframe_insertion)	Retinal dystrophy	GUncertain significance
Select item 815264	GRCh37/hg19 9q21.2(chr9:80699858-80890936)x1	CEP78	Copy number loss	not provided	GUncertain significance
Select item 561260	46,XX,der(9)(q21.2,q21.2).seq[GRCh37/hg19]der(9)(9pter->9q21.2(+)(8084369{7-8})::q21.2(-)(808497{60-59}),q21.2(-)(8084946{5-3})::q21.2(+)(808596{79-81}->9qter)	CEP78	Complex	Cone-rod dystrophy and hearing loss 1	GPathogenic
Select item 394616	GRCh37/hg19 9q21.2(chr9:80850226-80880439)x3	CEP78	Copy number gain	See cases	GLikely benign