Related gene-specific medical variations for Gene (Select 9786) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244037	NC_000014.8:g.(?_58894347)_(58917484_?)dup	KIAA0586	Duplication	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GUncertain significance
Select item 3244036	NC_000014.8:g.(?_58924457)_(58927898_?)del	KIAA0586	Deletion	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 2690630	NM_001329943.3(KIAA0586):c.3859-2A>G	KIAA0586	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 2440981	NM_001329943.3(KIAA0586):c.3144+2T>A	KIAA0586	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2433098	NM_001329943.3(KIAA0586):c.*889G>A	KIAA0586	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 2433097	NM_001329943.3(KIAA0586):c.298G>A (p.Val100Met)	KIAA0586 (V100M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1323140	NM_001329943.3(KIAA0586):c.2875C>T (p.Gln959Ter)	KIAA0586 (Q1012* +6 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1323139	NM_001329943.3(KIAA0586):c.506C>A (p.Ser169Ter)	KIAA0586 (S125* +5 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1174463	NM_001329943.3(KIAA0586):c.-406T>C	KIAA0586, LOC130055735	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 930820	NM_001329943.3(KIAA0586):c.1629G>A (p.Trp543Ter)	KIAA0586 (W499* +5 more)	Single nucleotide variant (nonsense)	Joubert syndrome 23	GPathogenic
Select item 807118	NM_001329943.3(KIAA0586):c.1362G>C (p.Gln454His)	KIAA0586 (Q410H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 445610	NM_001329943.3(KIAA0586):c.2945-9dup	KIAA0586	Duplication (intron variant)	not provided	GBenign
Select item 217669	NM_001329943.3(KIAA0586):c.643C>T (p.Gln215Ter)	KIAA0586 (Q268* +5 more)	Single nucleotide variant (nonsense)	Joubert syndrome 23 +1 more	GPathogenic
Select item 217668	NM_001329943.3(KIAA0586):c.1571_1575del (p.Leu524fs)	KIAA0586 (L524fs +5 more)	Deletion (frameshift variant)	Joubert syndrome 23	GPathogenic
Select item 217666	NM_001329943.3(KIAA0586):c.1271_1274delinsGA (p.Glu424fs)	KIAA0586 (E284fs +5 more)	Indel (frameshift variant)	Joubert syndrome 23	GPathogenic