ClinVar for Gene (Select 1594) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 462

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336331	NM_000785.4(CYP27B1):c.1376G>C (p.Arg459Pro)	CYP27B1 (R459P)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1A	GLikely pathogenic
Select item 3336025	NM_000785.4(CYP27B1):c.1474C>G (p.Arg492Gly)	CYP27B1 (R492G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335952	NM_000785.4(CYP27B1):c.1166G>C (p.Arg389Pro)	CYP27B1 (R389P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270537	NM_000785.4(CYP27B1):c.1009C>T (p.Pro337Ser)	CYP27B1 (P337S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270536	NM_000785.4(CYP27B1):c.463G>T (p.Ala155Ser)	CYP27B1 (A155S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251601	NM_000785.4(CYP27B1):c.1376G>T (p.Arg459Leu)	CYP27B1 (R459L)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1A	GPathogenic
Select item 3244359	NC_000012.11:g.(?_58160610)_(58160824_?)del	CYP27B1	Deletion	not provided	GPathogenic
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	SDR9C7, TSPAN31 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 3079449	NM_000785.4(CYP27B1):c.571T>C (p.Tyr191His)	CYP27B1 (Y191H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079447	NM_000785.4(CYP27B1):c.49T>A (p.Trp17Arg)	CYP27B1 (W17R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079446	NM_000785.4(CYP27B1):c.467G>A (p.Gly156Glu)	CYP27B1 (G156E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3079445	NM_000785.4(CYP27B1):c.461A>T (p.Tyr154Phe)	CYP27B1 (Y154F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079444	NM_000785.4(CYP27B1):c.286G>A (p.Glu96Lys)	CYP27B1 (E96K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079443	NM_000785.4(CYP27B1):c.1337T>G (p.Leu446Arg)	CYP27B1 (L446R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079442	NM_000785.4(CYP27B1):c.1222G>T (p.Val408Phe)	CYP27B1 (V408F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3023914	NM_000785.4(CYP27B1):c.1136+18G>A	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023279	NM_000785.4(CYP27B1):c.129C>T (p.Pro43=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021611	NM_000785.4(CYP27B1):c.222G>A (p.Pro74=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020069	NM_000785.4(CYP27B1):c.946T>C (p.Leu316=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017795	NM_000785.4(CYP27B1):c.66C>A (p.Gly22=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013336	NM_000785.4(CYP27B1):c.1491T>G (p.Pro497=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011301	NM_000785.4(CYP27B1):c.790+15G>A	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009028	NM_000785.4(CYP27B1):c.964-13A>C	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007246	NM_000785.4(CYP27B1):c.534G>A (p.Gly178=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006946	NM_000785.4(CYP27B1):c.386+18C>G	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006666	NM_000785.4(CYP27B1):c.171G>A (p.Gly57=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005950	NM_000785.4(CYP27B1):c.791-17G>A	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005684	NM_000785.4(CYP27B1):c.196-11C>T	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005680	NM_000785.4(CYP27B1):c.873G>T (p.Ala291=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005349	NM_000785.4(CYP27B1):c.99A>G (p.Ala33=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003889	NM_000785.4(CYP27B1):c.315C>T (p.Pro105=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003351	NM_000785.4(CYP27B1):c.195+12C>T	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999798	NM_000785.4(CYP27B1):c.357C>T (p.Cys119=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996765	NM_000785.4(CYP27B1):c.381C>G (p.Leu127=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996613	NM_000785.4(CYP27B1):c.196-10G>C	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996560	NM_000785.4(CYP27B1):c.555C>T (p.Asp185=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994650	NM_000785.4(CYP27B1):c.543C>T (p.Ala181=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994616	NM_000785.4(CYP27B1):c.1017C>T (p.Val339=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993492	NM_000785.4(CYP27B1):c.1332A>T (p.Ala444=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992083	NM_000785.4(CYP27B1):c.279C>T (p.Leu93=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990392	NM_000785.4(CYP27B1):c.189G>A (p.Glu63=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989014	NM_000785.4(CYP27B1):c.590-17C>T	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988494	NM_000785.4(CYP27B1):c.1215+15T>G	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988131	NM_000785.4(CYP27B1):c.1136+7G>A	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985359	NM_000785.4(CYP27B1):c.1215+12C>G	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982769	NM_000785.4(CYP27B1):c.75A>G (p.Leu25=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982768	NM_000785.4(CYP27B1):c.590-6G>A	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981883	NM_000785.4(CYP27B1):c.590-19G>A	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981297	NM_000785.4(CYP27B1):c.126C>G (p.Gly42=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980779	NM_000785.4(CYP27B1):c.1188T>C (p.His396=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979306	NM_000785.4(CYP27B1):c.1136+11A>T	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977030	NM_000785.4(CYP27B1):c.1356G>A (p.Lys452=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976338	NM_000785.4(CYP27B1):c.196-4C>G	CYP27B1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2975460	NM_000785.4(CYP27B1):c.138C>T (p.Pro46=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974464	NM_000785.4(CYP27B1):c.790+8A>G	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974129	NM_000785.4(CYP27B1):c.196-19G>A	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973533	NM_000785.4(CYP27B1):c.1136+19A>T	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972579	NM_000785.4(CYP27B1):c.1414-5T>C	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970875	NM_000785.4(CYP27B1):c.386+20A>G	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970385	NM_000785.4(CYP27B1):c.654G>A (p.Thr218=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967332	NM_000785.4(CYP27B1):c.1035A>G (p.Ser345=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967230	NM_000785.4(CYP27B1):c.196-10G>T	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967229	NM_000785.4(CYP27B1):c.1215+11C>G	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967114	NM_000785.4(CYP27B1):c.678C>A (p.Gly226=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966715	NM_000785.4(CYP27B1):c.1218G>A (p.Thr406=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2966103	NM_000785.4(CYP27B1):c.963+7T>C	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962850	NM_000785.4(CYP27B1):c.951G>A (p.Ala317=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960615	NM_000785.4(CYP27B1):c.628C>T (p.Leu210=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958141	NM_000785.4(CYP27B1):c.1321del (p.His441fs)	CYP27B1 (H441fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2955215	NM_000785.4(CYP27B1):c.327C>T (p.Ser109=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920883	NM_000785.4(CYP27B1):c.221C>T (p.Pro74Leu)	CYP27B1 (P74L)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1A	GUncertain significance
Select item 2911178	NM_000785.4(CYP27B1):c.914A>C (p.Gln305Pro)	CYP27B1 (Q305P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2910586	NM_000785.4(CYP27B1):c.540C>T (p.Pro180=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909733	NM_000785.4(CYP27B1):c.963+9C>G	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908863	NM_000785.4(CYP27B1):c.516_528dup (p.Thr177fs)	CYP27B1 (T177fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2908809	NM_000785.4(CYP27B1):c.1119G>A (p.Val373=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904339	NM_000785.4(CYP27B1):c.791-2A>G	CYP27B1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2902995	NM_000785.4(CYP27B1):c.1191G>C (p.Val397=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901482	NM_000785.4(CYP27B1):c.1197C>T (p.Asp399=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900848	NM_000785.4(CYP27B1):c.342G>A (p.Thr114=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898493	NM_000785.4(CYP27B1):c.480C>T (p.Asn160=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898325	NM_000785.4(CYP27B1):c.1308G>A (p.Glu436=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898014	NM_000785.4(CYP27B1):c.81C>T (p.Tyr27=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896849	NM_000785.4(CYP27B1):c.216C>T (p.Phe72=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896725	NM_000785.4(CYP27B1):c.678C>T (p.Gly226=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896205	NM_000785.4(CYP27B1):c.1377C>A (p.Arg459=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891685	NM_000785.4(CYP27B1):c.378G>T (p.Leu126=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888380	NM_000785.4(CYP27B1):c.150C>G (p.Ala50=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888336	NM_000785.4(CYP27B1):c.57_69del (p.Glu20fs)	CYP27B1 (E20fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2880278	NM_000785.4(CYP27B1):c.1032C>T (p.His344=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880271	NM_000785.4(CYP27B1):c.386+10C>G	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880086	NM_000785.4(CYP27B1):c.1136+11A>G	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877826	NM_000785.4(CYP27B1):c.183A>G (p.Leu61=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877818	NM_000785.4(CYP27B1):c.196-14G>C	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876993	NM_000785.4(CYP27B1):c.1136+20G>A	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876828	NM_000785.4(CYP27B1):c.1136+17G>A	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876300	NM_000785.4(CYP27B1):c.711G>A (p.Ala237=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875990	NM_000785.4(CYP27B1):c.1434G>A (p.Val478=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875494	NM_000785.4(CYP27B1):c.1108C>T (p.Leu370=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873987	NM_000785.4(CYP27B1):c.791-8C>T	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 5