ClinVar for MedGen (Select 934668) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1284038	NM_014804.3(KIAA0753):c.1716T>C (p.Ala572=)	KIAA0753	Single nucleotide variant (non-coding transcript 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)	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)	not provided +3 more	GBenign
Select item 1259547	NM_014804.3(KIAA0753):c.*21A>G	KIAA0753	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +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)	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 1236419	NM_014804.3(KIAA0753):c.2687A>G (p.Gln896Arg)	KIAA0753 (Q597R +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)	Short-rib thoracic dysplasia 21 without polydactyly +3 more	GBenign
Select item 1183823	NM_014804.3(KIAA0753):c.69C>T (p.Ser23=)	KIAA0753	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 38 +3 more	GBenign
Select item 1032640	NM_014804.3(KIAA0753):c.601C>T (p.His201Tyr)	KIAA0753 (H201Y)	Single nucleotide variant (5 prime UTR variant +2 more)	Orofaciodigital syndrome XV +1 more	GUncertain significance
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 +4 more	GLikely benign
Select item 620530	NM_014804.3(KIAA0753):c.2656C>T (p.Arg886Ter)	KIAA0753 (R886* +1 more)	Single nucleotide variant (nonsense +1 more)	Orofaciodigital syndrome XV +2 more	GPathogenic/Likely pathogenic
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 428613	NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter)	KIAA0753 (R324* +1 more)	Single nucleotide variant (nonsense +1 more)	Orofaciodigital syndrome XV +2 more	GPathogenic/Likely pathogenic
Select item 376793	NM_014804.3(KIAA0753):c.1756A>G (p.Lys586Glu)	KIAA0753 (K586E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +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)	Joubert syndrome 38 +2 more	GPathogenic/Likely pathogenic