ClinVar for MedGen (Select 1794168) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500739	NM_014804.3(KIAA0753):c.2333T>C (p.Met778Thr)	KIAA0753 (M479T +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 38	GLikely pathogenic
Select item 1677084	NM_014804.3(KIAA0753):c.1481del (p.Lys494fs)	KIAA0753 (K195fs +1 more)	Deletion (frameshift variant)	Joubert syndrome 38 +1 more	GPathogenic/Likely pathogenic
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 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 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 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 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 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 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 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 1195878	NM_014804.3(KIAA0753):c.2359-1G>C	KIAA0753	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 38	GPathogenic
Select item 1195877	NM_014804.3(KIAA0753):c.769A>G (p.Arg257Gly)	KIAA0753 (R257G)	Single nucleotide variant (non-coding transcript variant +2 more)	Joubert syndrome 38	GPathogenic
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
Select item 713011	NM_014804.3(KIAA0753):c.236T>C (p.Val79Ala)	KIAA0753 (V79A)	Single nucleotide variant (5 prime UTR variant +2 more)	Orofaciodigital syndrome XV +3 more	GLikely benign
Select item 445434	NM_014804.3(KIAA0753):c.2338C>T (p.Arg780Cys)	KIAA0753 (R780C +1 more)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome XV +3 more	GBenign/Likely benign
Select item 376793	NM_014804.3(KIAA0753):c.1756A>G (p.Lys586Glu)	KIAA0753 (K586E +1 more)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome XV +4 more	GBenign/Likely benign
Select item 254662	NM_014804.3(KIAA0753):c.1546-3C>A	KIAA0753	Single nucleotide variant (intron variant)	Joubert syndrome 38 +1 more	GConflicting classifications of pathogenicity
Select item 254661	NM_014804.3(KIAA0753):c.1891A>T (p.Lys631Ter)	KIAA0753 (K631* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified +2 more	GPathogenic/Likely pathogenic