2606[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic
Select item 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	See cases	GPathogenic
Select item 882468	NM_000785.4(CYP27B1):c.*764T>A	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 309987	NM_000785.4(CYP27B1):c.*722C>G	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 309988	NM_000785.4(CYP27B1):c.*635G>A	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 309989	NM_000785.4(CYP27B1):c.*472C>A	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 309990	NM_000785.4(CYP27B1):c.*446G>A	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 309991	NM_000785.4(CYP27B1):c.426_428dup	CYP27B1	Duplication (3 prime UTR variant)	Vitamin D-dependent rickets	GUncertain significance
Select item 882469	NM_000785.4(CYP27B1):c.*426T>C	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 884177	NM_000785.4(CYP27B1):c.*415G>A	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GLikely benign
Select item 884178	NM_000785.4(CYP27B1):c.*345T>C	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 884179	NM_000785.4(CYP27B1):c.*329T>C	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 309992	NM_000785.4(CYP27B1):c.*301T>C	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 309993	NM_000785.4(CYP27B1):c.*295G>A	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 884180	NM_000785.4(CYP27B1):c.*215G>C	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 884181	NM_000785.4(CYP27B1):c.*143G>A	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 884182	NM_000785.4(CYP27B1):c.*77G>A	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GLikely benign
Select item 309994	NM_000785.4(CYP27B1):c.*76G>A	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 2835420	NM_000785.4(CYP27B1):c.1521C>T (p.Asp507=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2099009	NM_000785.4(CYP27B1):c.1517T>G (p.Leu506Trp)	CYP27B1 (L506W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945596	NM_000785.4(CYP27B1):c.1512G>A (p.Gln504=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 309995	NM_000785.4(CYP27B1):c.1505A>G (p.Asn502Ser)	CYP27B1 (N502S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2728685	NM_000785.4(CYP27B1):c.1503C>A (p.Ile501=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2164587	NM_000785.4(CYP27B1):c.1499G>A (p.Ser500Asn)	CYP27B1 (S500N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013336	NM_000785.4(CYP27B1):c.1491T>G (p.Pro497=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2740508	NM_000785.4(CYP27B1):c.1479T>A (p.Thr493=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2246886	NM_000785.4(CYP27B1):c.1475G>C (p.Arg492Pro)	CYP27B1 (R492P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 857514	NM_000785.4(CYP27B1):c.1474C>T (p.Arg492Trp)	CYP27B1 (R492W)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1A +1 more	GPathogenic/Likely pathogenic
Select item 2764378	NM_000785.4(CYP27B1):c.1453dup (p.Ala485fs)	CYP27B1 (A485fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 738075	NM_000785.4(CYP27B1):c.1452G>A (p.Ala484=)	CYP27B1	Single nucleotide variant (synonymous variant)	Vitamin D-dependent rickets, type 1A +1 more	GBenign/Likely 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 2739336	NM_000785.4(CYP27B1):c.1431G>A (p.Glu477=)	CYP27B1	Single nucleotide variant (synonymous 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 732797	NM_000785.4(CYP27B1):c.1414-6T>C	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792869	NM_000785.4(CYP27B1):c.1414-14T>C	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787131	NM_000785.4(CYP27B1):c.1414-19C>T	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2699903	NM_000785.4(CYP27B1):c.1414-19C>G	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296706	NM_000785.4(CYP27B1):c.1414-95C>T	CYP27B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266201	NM_000785.4(CYP27B1):c.1413+113A>C	CYP27B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2755754	NM_000785.4(CYP27B1):c.1413+16T>G	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858890	NM_000785.4(CYP27B1):c.1413+15T>C	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818717	NM_000785.4(CYP27B1):c.1413+10C>G	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2743317	NM_000785.4(CYP27B1):c.1413+10C>T	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 760728	NM_000785.4(CYP27B1):c.1395G>A (p.Leu465=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2765963	NM_000785.4(CYP27B1):c.1392A>G (p.Glu464=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1687590	NM_000785.4(CYP27B1):c.1388T>C (p.Leu463Pro)	CYP27B1 (L463P)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1A	GUncertain significance
Select item 309996	NM_000785.4(CYP27B1):c.1385A>T (p.Glu462Val)	CYP27B1 (E462V)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 2808964	NM_000785.4(CYP27B1):c.1382C>A (p.Ala461Glu)	CYP27B1 (A461E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896205	NM_000785.4(CYP27B1):c.1377C>A (p.Arg459=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2736763	NM_000785.4(CYP27B1):c.1376dup (p.Leu460fs)	CYP27B1 (L460fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2766330	NM_000785.4(CYP27B1):c.1372_1375dup (p.Arg459fs)	CYP27B1 (R459fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1324207	NM_000785.4(CYP27B1):c.1349_1376del (p.Phe450fs)	CYP27B1 (F450fs)	Deletion (frameshift variant)	Vitamin D-dependent rickets, type 1A	GLikely pathogenic
Select item 1007304	NM_000785.4(CYP27B1):c.1376G>A (p.Arg459His)	CYP27B1 (R459H)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1A +1 more	GLikely pathogenic
Select item 522958	NM_000785.4(CYP27B1):c.1375C>T (p.Arg459Cys)	CYP27B1 (R459C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2103440	NM_000785.4(CYP27B1):c.1364G>A (p.Cys455Tyr)	CYP27B1 (C455Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1067033	NM_000785.4(CYP27B1):c.1358G>T (p.Arg453Leu)	CYP27B1 (R453L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 267276	NM_000785.4(CYP27B1):c.1358G>A (p.Arg453His)	CYP27B1 (R453H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 802871	NM_000785.4(CYP27B1):c.1357C>T (p.Arg453Cys)	CYP27B1 (R453C)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1A +1 more	GPathogenic/Likely pathogenic
Select item 2977030	NM_000785.4(CYP27B1):c.1356G>A (p.Lys452=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742940	NM_000785.4(CYP27B1):c.1353C>G (p.Gly451=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722314	NM_000785.4(CYP27B1):c.1352G>T (p.Gly451Val)	CYP27B1 (G451V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1037735	NM_000785.4(CYP27B1):c.1340C>T (p.Pro447Leu)	CYP27B1 (P447L)	Single nucleotide variant (missense variant)	not provided	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 2993492	NM_000785.4(CYP27B1):c.1332A>T (p.Ala444=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799658	NM_000785.4(CYP27B1):c.1332A>G (p.Ala444=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 279798	NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs)	CYP27B1 (F443fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic
Select item 2958141	NM_000785.4(CYP27B1):c.1321del (p.His441fs)	CYP27B1 (H441fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2418524	NM_000785.4(CYP27B1):c.1320C>T (p.Pro440=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2331380	NM_000785.4(CYP27B1):c.1318C>T (p.Pro440Ser)	CYP27B1 (P440S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2898325	NM_000785.4(CYP27B1):c.1308G>A (p.Glu436=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2846991	NM_000785.4(CYP27B1):c.1305G>A (p.Gly435=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2368189	NM_000785.4(CYP27B1):c.1295G>A (p.Arg432His)	CYP27B1 (R432H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1072027	NM_000785.4(CYP27B1):c.1290_1294dup (p.Arg432fs)	CYP27B1 (R432fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2735903	NM_000785.4(CYP27B1):c.1294C>T (p.Arg432Cys)	CYP27B1 (R432C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 880897	NM_000785.4(CYP27B1):c.1286G>A (p.Arg429His)	CYP27B1 (R429H)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1A +1 more	GConflicting classifications of pathogenicity
Select item 265095	NM_000785.4(CYP27B1):c.1286G>C (p.Arg429Pro)	CYP27B1 (R429P)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 2785138	NM_000785.4(CYP27B1):c.1284T>C (p.Phe428=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2081289	NM_000785.4(CYP27B1):c.1266C>T (p.Phe422=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766574	NM_000785.4(CYP27B1):c.1263G>A (p.Gln421=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182320	NM_000785.4(CYP27B1):c.1248A>G (p.Ser416=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804453	NM_000785.4(CYP27B1):c.1239T>C (p.Tyr413=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1343091	NM_000785.4(CYP27B1):c.1232G>A (p.Cys411Tyr)	CYP27B1 (C411Y)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1A	GLikely pathogenic
Select item 2804681	NM_000785.4(CYP27B1):c.1230G>A (p.Leu410=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 880898	NM_000785.4(CYP27B1):c.1230G>C (p.Leu410=)	CYP27B1	Single nucleotide variant (synonymous variant)	Vitamin D-dependent rickets, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1668	NM_000785.4(CYP27B1):c.1226C>T (p.Thr409Ile)	CYP27B1 (T409I)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1A +1 more	GPathogenic/Likely pathogenic
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 1936788	NM_000785.4(CYP27B1):c.1219C>T (p.Leu407=)	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 1936106	NM_000785.4(CYP27B1):c.1217C>T (p.Thr406Met)	CYP27B1 (T406M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1457427	NM_000785.4(CYP27B1):c.1216-1G>C	CYP27B1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1632460	NM_000785.4(CYP27B1):c.1216-18T>G	CYP27B1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1637039	NM_000785.4(CYP27B1):c.1215+20C>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 2793718	NM_000785.4(CYP27B1):c.1215+13T>C	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 2013482	NM_000785.4(CYP27B1):c.1215+12C>A	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 2856458	NM_000785.4(CYP27B1):c.1215+10G>A	CYP27B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2118613	NM_000785.4(CYP27B1):c.1215+5del	CYP27B1	Deletion (intron variant)	not provided	GUncertain significance

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