ClinVar for MedGen (Select 901479) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2953409	NM_001329943.3(KIAA0586):c.1584-18C>A	KIAA0586	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2952733	NM_001329943.3(KIAA0586):c.4012G>T (p.Glu1338Ter)	KIAA0586 (E1253* +6 more)	Single nucleotide variant (nonsense)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 2952523	NM_001329943.3(KIAA0586):c.1130-16A>G	KIAA0586	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2952380	NM_001329943.3(KIAA0586):c.4324-6A>G	KIAA0586	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2951645	NM_001329943.3(KIAA0586):c.1149A>G (p.Glu383=)	KIAA0586	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2951525	NM_001329943.3(KIAA0586):c.2907A>G (p.Ser969=)	KIAA0586	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2951452	NM_001329943.3(KIAA0586):c.1253+1G>A	KIAA0586	Single nucleotide variant (splice donor variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely pathogenic
Select item 2951141	NM_001329943.3(KIAA0586):c.1881G>A (p.Lys627=)	KIAA0586	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2950795	NM_001329943.3(KIAA0586):c.3858+16C>T	KIAA0586	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2950716	NM_001329943.3(KIAA0586):c.3173del (p.Pro1058fs)	KIAA0586 (P1043fs +6 more)	Deletion (frameshift variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 2950159	NM_001329943.3(KIAA0586):c.4506A>G (p.Ala1502=)	KIAA0586 (S1531G +1 more)	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GUncertain significance
Select item 2949718	NM_001329943.3(KIAA0586):c.3145-16G>A	KIAA0586	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2949467	NM_001329943.3(KIAA0586):c.585+10_585+11insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATATTTTT	KIAA0586	Insertion (splice donor variant)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 2949390	NM_001329943.3(KIAA0586):c.2961T>C (p.Ser987=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2949376	NM_001329943.3(KIAA0586):c.479A>G (p.Asp160Gly)	KIAA0586 (D145G +5 more)	Single nucleotide variant (missense variant)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 2949273	NM_001329943.3(KIAA0586):c.4495+3726_4495+3732del	KIAA0586	Deletion (intron variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2948901	NM_001329943.3(KIAA0586):c.3481G>T (p.Glu1161Ter)	KIAA0586 (E1085* +6 more)	Single nucleotide variant (nonsense)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2948726	NM_001329943.3(KIAA0586):c.235C>T (p.Gln79Ter)	KIAA0586 (Q79* +2 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2948175	NM_001329943.3(KIAA0586):c.3123A>C (p.Ser1041=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2947665	NM_001329943.3(KIAA0586):c.200-5G>A	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2947208	NM_001329943.3(KIAA0586):c.4495+3796G>T	KIAA0586	Single nucleotide variant (intron variant +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2947040	NM_001329943.3(KIAA0586):c.2976T>A (p.Leu992=)	KIAA0586	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2946791	NM_001329943.3(KIAA0586):c.939dup (p.Asn314Ter)	KIAA0586 (N299* +5 more)	Duplication (nonsense)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 2946755	NM_001329943.3(KIAA0586):c.3990+19G>A	KIAA0586	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2946199	NM_001329943.3(KIAA0586):c.411-1448G>A	KIAA0586 (G162R +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GUncertain significance
Select item 2945565	NM_001329943.3(KIAA0586):c.1515G>A (p.Leu505=)	KIAA0586	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2945409	NM_001329943.3(KIAA0586):c.1450T>C (p.Leu484=)	KIAA0586	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2945150	NM_001329943.3(KIAA0586):c.3144+2T>C	KIAA0586	Single nucleotide variant (splice donor variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely pathogenic
Select item 2944935	NM_001329943.3(KIAA0586):c.2037A>G (p.Pro679=)	KIAA0586	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2944372	NM_001329943.3(KIAA0586):c.1253+12A>T	KIAA0586	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2943922	NM_001329943.3(KIAA0586):c.3304+14_3304+19del	KIAA0586	Deletion (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2943700	NM_001329943.3(KIAA0586):c.1130-20C>G	KIAA0586	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2943614	NM_001329943.3(KIAA0586):c.-1T>C	KIAA0586	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2943593	NM_001329943.3(KIAA0586):c.4502A>G (p.Lys1501Arg)	KIAA0586 (K1425R +6 more)	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2943298	NM_001329943.3(KIAA0586):c.2280C>T (p.Thr760=)	KIAA0586	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2943202	NM_001329943.3(KIAA0586):c.1129+20G>C	KIAA0586	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2943127	NM_001329943.3(KIAA0586):c.1824T>C (p.His608=)	KIAA0586	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2943045	NM_001329943.3(KIAA0586):c.811C>A (p.His271Asn)	KIAA0586 (H256N +5 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GUncertain significance
Select item 2942852	NM_001329943.3(KIAA0586):c.1085del (p.Asn362fs)	KIAA0586 (N277fs +5 more)	Deletion (frameshift variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 2942533	NM_001329943.3(KIAA0586):c.3918A>G (p.Ala1306=)	KIAA0586	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2942521	NM_001329943.3(KIAA0586):c.340+14A>G	KIAA0586	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2942476	NM_001329943.3(KIAA0586):c.2257C>T (p.Gln753Ter)	KIAA0586 (Q709* +6 more)	Single nucleotide variant (nonsense)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 2942412	NM_001329943.3(KIAA0586):c.147A>G (p.Ala49=)	KIAA0586	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2941801	NM_001329943.3(KIAA0586):c.1861A>G (p.Ser621Gly)	KIAA0586 (S481G +5 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GUncertain significance
Select item 2941710	NM_001329943.3(KIAA0586):c.930A>G (p.Pro310=)	KIAA0586	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2941488	NM_001329943.3(KIAA0586):c.808-20A>C	KIAA0586	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2941409	NM_001329943.3(KIAA0586):c.465del (p.Gly156fs)	KIAA0586 (G112fs +5 more)	Deletion (frameshift variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 2941198	NM_001329943.3(KIAA0586):c.1342_1345del (p.Glu448fs)	KIAA0586 (E404fs +5 more)	Microsatellite (frameshift variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 2941180	NM_001329943.3(KIAA0586):c.2445A>G (p.Val815=)	KIAA0586	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2940792	NM_001329943.3(KIAA0586):c.4539C>G (p.Ala1513=)	KIAA0586 (Q1542E +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GUncertain significance
Select item 2940238	NM_001329943.3(KIAA0586):c.4495+3730T>G	KIAA0586	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2939733	NM_001329943.3(KIAA0586):c.4168+6C>T	KIAA0586	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GUncertain significance
Select item 2939645	NM_001329943.3(KIAA0586):c.3144+1G>A	KIAA0586	Single nucleotide variant (splice donor variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely pathogenic
Select item 2939389	NM_001329943.3(KIAA0586):c.4430-15T>C	KIAA0586	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2939220	NM_001329943.3(KIAA0586):c.2944+19T>A	KIAA0586	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2939051	NM_001329943.3(KIAA0586):c.4482A>G (p.Thr1494=)	KIAA0586	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2939015	NM_001329943.3(KIAA0586):c.134_137dup (p.Leu47fs)	KIAA0586 (L32fs +2 more)	Duplication (frameshift variant +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 2938506	NM_001329943.3(KIAA0586):c.2254+1G>T	KIAA0586	Single nucleotide variant (splice donor variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely pathogenic
Select item 2938504	NM_001329943.3(KIAA0586):c.2451C>T (p.Pro817=)	KIAA0586	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2938340	NM_001329943.3(KIAA0586):c.271-1G>A	KIAA0586	Single nucleotide variant (splice acceptor variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely pathogenic
Select item 2937562	NM_001329943.3(KIAA0586):c.381A>G (p.Lys127=)	KIAA0586	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2937106	NM_001329943.3(KIAA0586):c.2554-9C>A	KIAA0586	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2936600	NM_001329943.3(KIAA0586):c.1377G>C (p.Leu459=)	KIAA0586	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2936418	NM_001329943.3(KIAA0586):c.962-3A>C	KIAA0586	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GUncertain significance
Select item 2936371	NM_001329943.3(KIAA0586):c.3366T>G (p.Pro1122=)	KIAA0586	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2936287	NM_001329943.3(KIAA0586):c.411-1348dup	KIAA0586	Duplication (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2936042	NM_001329943.3(KIAA0586):c.975A>G (p.Glu325=)	KIAA0586	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2936015	NM_001329943.3(KIAA0586):c.4371A>G (p.Pro1457=)	KIAA0586	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2935555	NM_001329943.3(KIAA0586):c.2796A>G (p.Lys932=)	KIAA0586	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2935424	NM_001329943.3(KIAA0586):c.1130-2A>G	KIAA0586	Single nucleotide variant (splice acceptor variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely pathogenic
Select item 2934806	NM_001329943.3(KIAA0586):c.636T>C (p.Ser212=)	KIAA0586	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2934616	NM_001329943.3(KIAA0586):c.2945-9del	KIAA0586	Deletion (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GBenign
Select item 2934599	NM_001329943.3(KIAA0586):c.3991-1G>A	KIAA0586	Single nucleotide variant (splice acceptor variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely pathogenic
Select item 2934349	NM_001329943.3(KIAA0586):c.2262C>T (p.Thr754=)	KIAA0586	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2934034	NM_001329943.3(KIAA0586):c.200-2A>G	KIAA0586	Single nucleotide variant (splice acceptor variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely pathogenic
Select item 2933669	NM_001329943.3(KIAA0586):c.1253+17G>A	KIAA0586	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2933333	NM_001329943.3(KIAA0586):c.2535T>A (p.Pro845=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2932775	NM_001329943.3(KIAA0586):c.2991T>C (p.Gly997=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2932606	NM_001329943.3(KIAA0586):c.3381A>C (p.Ala1127=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2932499	NM_001329943.3(KIAA0586):c.2034A>G (p.Arg678=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2932088	NM_001329943.3(KIAA0586):c.1654C>T (p.Gln552Ter)	KIAA0586 (Q412* +5 more)	Single nucleotide variant (nonsense)	Joubert syndrome 23 +1 more	GPathogenic
Select item 2931975	NM_001329943.3(KIAA0586):c.4496-3794A>G	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2931813	NM_001329943.3(KIAA0586):c.3144+15del	KIAA0586	Deletion (intron variant)	Joubert syndrome 23 +1 more	GBenign
Select item 2931801	NM_001329943.3(KIAA0586):c.411-15dup	KIAA0586	Duplication (intron variant)	Joubert syndrome 23 +1 more	GLikely benign
Select item 2931434	NM_001329943.3(KIAA0586):c.2175T>C (p.Tyr725=)	KIAA0586	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2930855	NM_001329943.3(KIAA0586):c.2016T>C (p.Pro672=)	KIAA0586	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2930645	NM_001329943.3(KIAA0586):c.2153T>C (p.Leu718Ser)	KIAA0586 (L642S +6 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GUncertain significance
Select item 2930272	NM_001329943.3(KIAA0586):c.1716C>A (p.Thr572=)	KIAA0586	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2930234	NM_001329943.3(KIAA0586):c.1927_1928del (p.Met643fs)	KIAA0586 (M628fs +6 more)	Microsatellite (frameshift variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 2929969	NM_001329943.3(KIAA0586):c.4077del (p.Leu1360fs)	KIAA0586 (L1220fs +6 more)	Deletion (frameshift variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 2929749	NM_001329943.3(KIAA0586):c.2469C>T (p.Ser823=)	KIAA0586	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2929359	NM_001329943.3(KIAA0586):c.3781+18A>G	KIAA0586	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2928954	NM_001329943.3(KIAA0586):c.4496-3816C>T	KIAA0586	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2928446	NM_001329943.3(KIAA0586):c.2826-10A>G	KIAA0586	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2928347	NM_001329943.3(KIAA0586):c.942C>T (p.Asn314=)	KIAA0586	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2928337	NM_001329943.3(KIAA0586):c.961+11G>T	KIAA0586	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 2928289	NM_001329943.3(KIAA0586):c.2405del (p.Lys802fs)	KIAA0586 (K662fs +6 more)	Deletion (frameshift variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 2928224	NM_001329943.3(KIAA0586):c.3786A>G (p.Leu1262=)	KIAA0586	Single nucleotide variant (synonymous variant)	KIAA0586-related condition +2 more	GLikely benign
Select item 2926158	NM_001329943.3(KIAA0586):c.2953A>G (p.Thr985Ala)	KIAA0586 (T845A +6 more)	Single nucleotide variant (missense variant)	Joubert syndrome 23 +1 more	GUncertain significance
Select item 2925906	NM_001329943.3(KIAA0586):c.1885-12T>G	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +1 more	GLikely benign

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