153241[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 145546	GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1	AP3S1, ARL14EPL +228 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 57490	GRCh38/hg38 5q23.1-23.2(chr5:120695675-124525372)x1	CEP120, CSNK1G3 +55 more	Copy number loss	See cases	GPathogenic
Select item 58355	GRCh38/hg38 5q23.1-23.2(chr5:120739630-126823984)x1	ALDH7A1, CEP120 +105 more	Copy number loss	See cases	GPathogenic
Select item 147446	GRCh38/hg38 5q23.2(chr5:122479268-126833168)x1	ALDH7A1, CEP120 +86 more	Copy number loss	See cases	GUncertain significance
Select item 1213615	NM_001375405.1(CEP120):c.*247T>A	CEP120	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1248158	NM_001375405.1(CEP120):c.*59A>C	CEP120	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2712980	NM_001375405.1(CEP120):c.2961A>G (p.Ter987=)	CEP120	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2227629	NM_001375405.1(CEP120):c.2954G>A (p.Ser985Asn)	CEP120 (S794N +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2712388	NM_001375405.1(CEP120):c.2931G>A (p.Glu977=)	CEP120	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 1678836	NM_001375405.1(CEP120):c.2926A>G (p.Arg976Gly)	CEP120 (R785G +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1197570	NM_001375405.1(CEP120):c.2925C>T (p.Ile975=)	CEP120	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly +1 more	GLikely benign
Select item 446143	NM_001375405.1(CEP120):c.2924T>G (p.Ile975Ser)	CEP120 (I949S +3 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GPathogenic
Select item 2042461	NM_001375405.1(CEP120):c.2917C>T (p.Arg973Ter)	CEP120 (R782* +3 more)	Single nucleotide variant (nonsense +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GConflicting classifications of pathogenicity
Select item 2588040	NM_001375405.1(CEP120):c.2897G>A (p.Arg966Gln)	CEP120 (R921Q +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1533046	NM_001375405.1(CEP120):c.2889C>T (p.His963=)	CEP120	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 3265983	NM_001375405.1(CEP120):c.2875G>A (p.Gly959Ser)	CEP120 (G959S +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1168235	NM_001375405.1(CEP120):c.2840G>A (p.Arg947His)	CEP120 (R756H +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 2716118	NM_001375405.1(CEP120):c.2839C>T (p.Arg947Cys)	CEP120 (R756C +3 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 1167916	NM_001375405.1(CEP120):c.2826T>C (p.Asp942=)	CEP120	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 31 +2 more	GBenign
Select item 2153194	NM_001375405.1(CEP120):c.2824G>A (p.Asp942Asn)	CEP120 (D751N +3 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 3265984	NM_001375405.1(CEP120):c.2818G>A (p.Gly940Ser)	CEP120 (G749S +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2475504	NM_001375405.1(CEP120):c.2807T>G (p.Val936Gly)	CEP120 (V936G +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1547176	NM_001375405.1(CEP120):c.2799T>C (p.His933=)	CEP120	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 1419396	NM_001375405.1(CEP120):c.2785A>C (p.Lys929Gln)	CEP120 (K738Q +3 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2048613	NM_001375405.1(CEP120):c.2781A>T (p.Gly927=)	CEP120	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 3265978	NM_001375405.1(CEP120):c.2771T>C (p.Ile924Thr)	CEP120 (I879T +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2045015	NM_001375405.1(CEP120):c.2753A>T (p.Tyr918Phe)	CEP120 (Y918F +3 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 3013485	NM_001375405.1(CEP120):c.2743C>T (p.Gln915Ter)	CEP120 (Q870* +3 more)	Single nucleotide variant (nonsense +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GPathogenic
Select item 1027809	NM_001375405.1(CEP120):c.2740G>A (p.Glu914Lys)	CEP120 (E723K +3 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 1645524	NM_001375405.1(CEP120):c.2736A>G (p.Gln912=)	CEP120	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2655663	NM_001375405.1(CEP120):c.2727-38C>T	CEP120	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1283100	NM_001375405.1(CEP120):c.2726+290A>G	CEP120	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2187882	NM_001375405.1(CEP120):c.2726+20T>C	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2168267	NM_001375405.1(CEP120):c.2726+19T>C	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2867071	NM_001375405.1(CEP120):c.2726+16G>T	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 1191459	NM_001375405.1(CEP120):c.2726+14A>T	CEP120	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2892040	NM_001375405.1(CEP120):c.2726+13A>G	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2406689	NM_001375405.1(CEP120):c.2711G>T (p.Arg904Ile)	CEP120 (R859I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2053614	NM_001375405.1(CEP120):c.2707A>G (p.Ile903Val)	CEP120 (I858V +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 1520213	NM_001375405.1(CEP120):c.2690G>A (p.Arg897Gln)	CEP120 (R706Q +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly +1 more	GUncertain significance
Select item 1306234	NM_001375405.1(CEP120):c.2686G>A (p.Glu896Lys)	CEP120 (E705K +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly +1 more	GUncertain significance
Select item 3029910	NM_001375405.1(CEP120):c.2685C>T (p.Thr895=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	CEP120-related disorder	GLikely benign
Select item 2053619	NM_001375405.1(CEP120):c.2659G>A (p.Ala887Thr)	CEP120 (A842T +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2723496	NM_001375405.1(CEP120):c.2648G>A (p.Arg883His)	CEP120 (R857H +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 542763	NM_001375405.1(CEP120):c.2647C>T (p.Arg883Cys)	CEP120 (R883C +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly +2 more	GConflicting classifications of pathogenicity
Select item 3265986	NM_001375405.1(CEP120):c.2645T>G (p.Leu882Arg)	CEP120 (L856R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1439074	NM_001375405.1(CEP120):c.2638A>C (p.Met880Leu)	CEP120 (M880L +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 1166972	NM_001375405.1(CEP120):c.2637G>C (p.Gln879His)	CEP120 (Q688H +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly +1 more	GBenign
Select item 1438443	NM_001375405.1(CEP120):c.2619G>C (p.Gln873His)	CEP120 (Q847H +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 1388617	NM_001375405.1(CEP120):c.2606G>A (p.Arg869His)	CEP120 (R869H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2026139	NM_001375405.1(CEP120):c.2605C>T (p.Arg869Cys)	CEP120 (R678C +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 1553485	NM_001375405.1(CEP120):c.2581-16_2581-13del	CEP120	Deletion (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2145792	NM_001375405.1(CEP120):c.2581-16C>A	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 1262269	NM_001375405.1(CEP120):c.2581-18=	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly +1 more	GBenign
Select item 1267830	NM_001375405.1(CEP120):c.2581-124del	CEP120	Deletion (intron variant)	not provided	GBenign
Select item 1245745	NM_001375405.1(CEP120):c.2581-316A>G	CEP120	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1578383	NM_001375405.1(CEP120):c.2580+6T>G	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly +1 more	GConflicting classifications of pathogenicity
Select item 2010641	NM_001375405.1(CEP120):c.2580+4T>G	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2847852	NM_001375405.1(CEP120):c.2580+2T>A	CEP120	Single nucleotide variant (splice donor variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely pathogenic
Select item 2265734	NM_001375405.1(CEP120):c.2573T>C (p.Leu858Pro)	CEP120 (L667P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1395049	NM_001375405.1(CEP120):c.2548C>G (p.Arg850Gly)	CEP120 (R824G +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 987164	NM_001375405.1(CEP120):c.2530_2548del (p.Tyr844fs)	CEP120 (Y653fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2794987	NM_001375405.1(CEP120):c.2524C>T (p.Leu842=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 1478006	NM_001375405.1(CEP120):c.2494A>G (p.Arg832Gly)	CEP120 (R787G +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 1565686	NM_001375405.1(CEP120):c.2482-20A>G	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 1569850	NM_001375405.1(CEP120):c.2481+3100G>A	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GBenign
Select item 1214923	NM_001375405.1(CEP120):c.2481+71A>T	CEP120	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1978778	NM_001375405.1(CEP120):c.2481+20G>T	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2171245	NM_001375405.1(CEP120):c.2481+6C>T	CEP120	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1027808	NM_001375405.1(CEP120):c.2462A>G (p.Asn821Ser)	CEP120 (N630S +3 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 31	GUncertain significance
Select item 2103953	NM_001375405.1(CEP120):c.2458A>G (p.Ile820Val)	CEP120 (I820V +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2060553	NM_001375405.1(CEP120):c.2449C>T (p.Gln817Ter)	CEP120 (Q772* +3 more)	Single nucleotide variant (nonsense +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GPathogenic
Select item 790421	NM_001375405.1(CEP120):c.2444G>A (p.Arg815His)	CEP120 (R789H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1309658	NM_001375405.1(CEP120):c.2443C>T (p.Arg815Cys)	CEP120 (R624C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3142491	NM_001375405.1(CEP120):c.2435C>A (p.Pro812Gln)	CEP120 (P767Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3364760	NM_001375405.1(CEP120):c.2422C>T (p.Gln808Ter)	CEP120 (Q617* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 854283	NM_001375405.1(CEP120):c.2418C>A (p.Asp806Glu)	CEP120 (D780E +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2747309	NM_001375405.1(CEP120):c.2406A>G (p.Gln802=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2858930	NM_001375405.1(CEP120):c.2377A>T (p.Lys793Ter)	CEP120 (K602* +3 more)	Single nucleotide variant (nonsense +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GPathogenic
Select item 476164	NM_001375405.1(CEP120):c.2359-8T>A	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 1194156	NM_001375405.1(CEP120):c.2358+20A>G	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly +1 more	GBenign/Likely benign
Select item 1583031	NM_001375405.1(CEP120):c.2358+18T>C	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 1599921	NM_001375405.1(CEP120):c.2358+14C>T	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GBenign
Select item 1569571	NM_001375405.1(CEP120):c.2358+11G>A	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2888448	NM_001375405.1(CEP120):c.2358+10C>T	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 1560026	NM_001375405.1(CEP120):c.2358+8A>C	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 1521987	NM_001375405.1(CEP120):c.2358+3T>G	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 429254	NM_001375405.1(CEP120):c.2358+1G>C	CEP120	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1315267	NM_001375405.1(CEP120):c.2345G>A (p.Arg782His)	CEP120 (R591H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2200255	NM_001375405.1(CEP120):c.2344C>T (p.Arg782Cys)	CEP120 (R591C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1056039	NM_001375405.1(CEP120):c.2333A>G (p.Glu778Gly)	CEP120 (E587G +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 623651	NM_001375405.1(CEP120):c.2323C>T (p.Gln775Ter)	CEP120 (Q775* +3 more)	Single nucleotide variant (nonsense +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GPathogenic/Likely pathogenic
Select item 3023699	NM_001375405.1(CEP120):c.2313A>G (p.Leu771=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign

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