"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 517538	NM_001330691.3(CEP78):c.84G>C (p.Ser28=)	CEP78	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 667093	NM_001330691.3(CEP78):c.103C>T (p.Arg35Cys)	CEP78 (R35C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 667090	NM_001330691.3(CEP78):c.120G>C (p.Glu40Asp)	CEP78 (E40D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 517539	NM_001330691.3(CEP78):c.253+8G>A	CEP78	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 930139	NM_001330691.3(CEP78):c.284G>A (p.Arg95His)	CEP78 (R95H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 930138	NM_001330691.3(CEP78):c.485A>G (p.Asp162Gly)	CEP78 (D162G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 667216	NM_001330691.3(CEP78):c.491G>A (p.Gly164Asp)	CEP78 (G164D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 517537	NM_001330691.3(CEP78):c.604-6T>G	CEP78	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 667088	NM_001330691.3(CEP78):c.898T>C (p.Ser300Pro)	CEP78 (S300P)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 517540	NM_001330691.3(CEP78):c.955G>C (p.Glu319Gln)	CEP78 (E319Q)	Single nucleotide variant (missense variant)	Cone-rod dystrophy and hearing loss 1 +2 more	GBenign
Select item 667089	NM_001330691.3(CEP78):c.1194A>G (p.Ala398=)	CEP78	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 667215	NM_001330691.3(CEP78):c.1214C>T (p.Pro405Leu)	CEP78 (P405L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 667092	NM_001330691.3(CEP78):c.1273G>C (p.Val425Leu)	CEP78 (V426L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1399492	NM_001330691.3(CEP78):c.1454del (p.Ser485fs)	CEP78 (S485fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 517541	NM_001330691.3(CEP78):c.1542C>T (p.Ile514=)	CEP78	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 667039	NM_001330691.3(CEP78):c.1566C>T (p.Gly522=)	CEP78	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 667043	NM_001330691.3(CEP78):c.1626-6dup	CEP78	Duplication (intron variant)	not specified +1 more	GBenign
Select item 667040	NM_001330691.3(CEP78):c.1780C>A (p.Gln594Lys)	CEP78 (Q595K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 667041	NM_001330691.3(CEP78):c.1788A>G (p.Gln596=)	CEP78	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 667213	NM_001330691.3(CEP78):c.1797+5A>G	CEP78	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 667214	NM_001330691.3(CEP78):c.1846-1G>C	CEP78	Single nucleotide variant (splice acceptor variant)	Cone-rod dystrophy and hearing loss 1 +2 more	GConflicting classifications of pathogenicity
Select item 517542	NM_001330691.3(CEP78):c.2007T>C (p.Cys669=)	CEP78	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 667042	NM_001330691.3(CEP78):c.2077A>C (p.Arg693=)	CEP78	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 667091	NM_001330691.3(CEP78):c.2107+10C>G	CEP78 (T690S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity

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Items: 24