C5561961[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1259547	NM_014804.3(KIAA0753):c.*21A>G	KIAA0753	Single nucleotide variant (3 prime UTR variant +1 more)	Joubert syndrome 38 +3 more	GBenign
Select item 1236419	NM_014804.3(KIAA0753):c.2687A>G (p.Gln896Arg)	KIAA0753 (Q597R +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 38 +3 more	GBenign
Select item 1284038	NM_014804.3(KIAA0753):c.1716T>C (p.Ala572=)	KIAA0753	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 38 +3 more	GBenign
Select item 1238793	NM_014804.3(KIAA0753):c.1697C>T (p.Pro566Leu)	KIAA0753 (P267L +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 38 +3 more	GBenign
Select item 1278062	NM_014804.3(KIAA0753):c.1397T>C (p.Leu466Pro)	KIAA0753 (L167P +1 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome XV +3 more	GBenign
Select item 1280830	NM_014804.3(KIAA0753):c.1330G>A (p.Asp444Asn)	KIAA0753 (D145N +1 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome XV +3 more	GBenign
Select item 1252198	NM_014804.3(KIAA0753):c.1125A>T (p.Glu375Asp)	KIAA0753 (E375D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 1221496	NM_014804.3(KIAA0753):c.507T>C (p.Ser169=)	KIAA0753	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +3 more	GBenign
Select item 1183823	NM_014804.3(KIAA0753):c.69C>T (p.Ser23=)	KIAA0753	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +3 more	GBenign