CYP51A1[gene] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	LOC129998788, LOC129998789 +227 more	Copy number loss	See cases	GPathogenic
Select item 527121	NC_000007.13:g.(?_91570394)_(92085896_?)dup	AKAP9, ANKIB1 +19 more	Duplication	Long QT syndrome	GUncertain significance
Select item 155347	GRCh38/hg38 7q21.2(chr7:92074326-92160217)x3	AKAP9, CYP51A1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 136345	NM_005751.5(AKAP9):c.10840A>G (p.Met3614Val)	AKAP9, CYP51A1 (M3614V +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GBenign/Likely benign
Select item 1193231	NM_000786.4(CYP51A1):c.*280T>C	CYP51A1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1282602	NM_000786.4(CYP51A1):c.*251G>C	CYP51A1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 624283	NM_000786.4(CYP51A1):c.1529G>T (p.Ter510Leu)	CYP51A1	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 3039897	NM_000786.4(CYP51A1):c.1491T>C (p.Pro497=)	CYP51A1	Single nucleotide variant (synonymous variant)	CYP51A1-related disorder	GLikely benign
Select item 1583718	NM_000786.4(CYP51A1):c.1491T>A (p.Pro497=)	CYP51A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3079760	NM_000786.4(CYP51A1):c.1453T>C (p.Phe485Leu)	CYP51A1 (F380L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2788842	NM_000786.4(CYP51A1):c.1451A>G (p.Tyr484Cys)	CYP51A1 (Y484C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847778	NM_000786.4(CYP51A1):c.1437T>C (p.Asp479=)	CYP51A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2237495	NM_000786.4(CYP51A1):c.1420C>T (p.Arg474Cys)	CYP51A1 (R369C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3384594	NM_000786.4(CYP51A1):c.1374A>C (p.Glu458Asp)	CYP51A1 (E353D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 677167	NM_000786.4(CYP51A1):c.1359T>C (p.His453=)	CYP51A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1202897	NM_000786.4(CYP51A1):c.1352-246A>G	CYP51A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3270704	NM_000786.4(CYP51A1):c.1334A>G (p.Tyr445Cys)	CYP51A1 (Y340C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1950549	NM_000786.4(CYP51A1):c.1314A>G (p.Ala438=)	CYP51A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1580829	NM_000786.4(CYP51A1):c.1309C>T (p.Pro437Ser)	CYP51A1 (P332S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3236637	NM_000786.4(CYP51A1):c.1292G>T (p.Arg431Leu)	CYP51A1 (R326L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963729	NM_000786.4(CYP51A1):c.1288G>C (p.Asp430His)	CYP51A1 (D325H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2350035	NM_000786.4(CYP51A1):c.1270C>T (p.Arg424Cys)	CYP51A1 (R319C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3236638	NM_000786.4(CYP51A1):c.1196A>G (p.Tyr399Cys)	CYP51A1 (Y294C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1270562	NM_000786.4(CYP51A1):c.1183-201A>G	CYP51A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286376	NM_000786.4(CYP51A1):c.1182+175A>G	CYP51A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1362204	NM_000786.4(CYP51A1):c.1156del (p.Ile385_Met386insTer)	CYP51A1	Deletion (nonsense)	not provided	GUncertain significance
Select item 1598173	NM_000786.4(CYP51A1):c.1147A>G (p.Ile383Val)	CYP51A1 (I278V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2548878	NM_000786.4(CYP51A1):c.1115G>A (p.Cys372Tyr)	CYP51A1 (C372Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2801753	NM_000786.4(CYP51A1):c.1106T>A (p.Leu369His)	CYP51A1 (L264H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991842	NM_000786.4(CYP51A1):c.1087-14C>A	CYP51A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2270147	NM_000786.4(CYP51A1):c.1059G>T (p.Glu353Asp)	CYP51A1 (E248D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1225466	NM_000786.4(CYP51A1):c.891-61G>T	CYP51A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3040270	NM_000786.4(CYP51A1):c.888C>T (p.Tyr296=)	CYP51A1	Single nucleotide variant (synonymous variant)	CYP51A1-related disorder	GLikely benign
Select item 1367270	NM_000786.4(CYP51A1):c.829C>T (p.Arg277Cys)	CYP51A1 (R172C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2309309	NM_000786.4(CYP51A1):c.791G>A (p.Arg264Gln)	CYP51A1 (R264Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2416376	NM_000786.4(CYP51A1):c.773G>T (p.Arg258Leu)	CYP51A1 (R153L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1201357	NM_000786.4(CYP51A1):c.771-189A>G	CYP51A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195091	NM_000786.4(CYP51A1):c.770+114G>A	CYP51A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3043760	NM_000786.4(CYP51A1):c.682A>C (p.Lys228Gln)	CYP51A1 (K123Q +1 more)	Single nucleotide variant (missense variant)	CYP51A1-related disorder	GLikely benign
Select item 1635205	NM_000786.4(CYP51A1):c.596-17C>G	CYP51A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231763	NM_000786.4(CYP51A1):c.595+66A>G	CYP51A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2315366	NM_000786.4(CYP51A1):c.538A>G (p.Ile180Val)	CYP51A1 (I180V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2072747	NM_000786.4(CYP51A1):c.511A>G (p.Ile171Val)	CYP51A1 (I171V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2268509	NM_000786.4(CYP51A1):c.499A>G (p.Ser167Gly)	CYP51A1 (S62G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270705	NM_000786.4(CYP51A1):c.483G>T (p.Gln161His)	CYP51A1 (Q56H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1211913	NM_000786.4(CYP51A1):c.469-297T>A	CYP51A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247337	NM_000786.4(CYP51A1):c.468+83T>C	CYP51A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2626923	NM_000786.4(CYP51A1):c.468+1G>A	CYP51A1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2863343	NM_000786.4(CYP51A1):c.415C>T (p.Arg139Cys)	CYP51A1 (R34C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2496444	NM_000786.4(CYP51A1):c.344T>G (p.Leu115Arg)	CYP51A1 (L10R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079761	NM_000786.4(CYP51A1):c.334A>T (p.Thr112Ser)	CYP51A1 (T112S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2626928	NM_000786.4(CYP51A1):c.316A>G (p.Met106Val)	CYP51A1 (M106V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3057305	NM_000786.4(CYP51A1):c.292-6T>C	CYP51A1	Single nucleotide variant (intron variant)	CYP51A1-related disorder	GLikely benign
Select item 1230853	NM_000786.4(CYP51A1):c.292-15C>T	CYP51A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274115	NM_000786.4(CYP51A1):c.292-52G>T	CYP51A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242904	NM_000786.4(CYP51A1):c.291+206C>T	CYP51A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262944	NM_000786.4(CYP51A1):c.291+124G>A	CYP51A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275629	NM_000786.4(CYP51A1):c.291+25dup	CYP51A1	Duplication (intron variant)	not provided	GBenign
Select item 1243649	NM_000786.4(CYP51A1):c.291+25_291+26dup	CYP51A1	Duplication (intron variant)	not provided	GBenign
Select item 1210585	NM_000786.4(CYP51A1):c.291+25_291+27dup	CYP51A1	Duplication (intron variant)	not provided	GLikely benign
Select item 1198606	NM_000786.4(CYP51A1):c.291+35A>C	CYP51A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918262	NM_000786.4(CYP51A1):c.287A>G (p.Glu96Gly)	CYP51A1 (E96G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1065597	NM_000786.4(CYP51A1):c.280G>A (p.Ala94Thr)	CYP51A1 (A94T)	Single nucleotide variant (missense variant +1 more)	Developmental cataract	GUncertain significance
Select item 3384589	NM_000786.4(CYP51A1):c.275_278del (p.Glu92fs)	CYP51A1 (E92fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2990039	NM_000786.4(CYP51A1):c.270del (p.Phe90_Leu91insTer)	CYP51A1	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1633044	NM_000786.4(CYP51A1):c.262A>G (p.Ile88Val)	CYP51A1 (I88V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1525457	NM_000786.4(CYP51A1):c.196A>G (p.Ser66Gly)	CYP51A1 (S66G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1230181	NM_000786.4(CYP51A1):c.193-47T>C	CYP51A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233108	NM_000786.4(CYP51A1):c.193-120del	CYP51A1	Deletion (intron variant)	not provided	GBenign
Select item 2232168	NM_000786.4(CYP51A1):c.168C>G (p.His56Gln)	CYP51A1 (H56Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1529240	NM_000786.4(CYP51A1):c.93C>T (p.Asn31=)	CYP51A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2263269	NM_000786.4(CYP51A1):c.80T>A (p.Val27Glu)	CYP51A1 (V27E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480857	NM_000786.4(CYP51A1):c.77A>G (p.Lys26Arg)	CYP51A1 (K26R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612462	NM_000786.4(CYP51A1):c.70A>T (p.Met24Leu)	CYP51A1 (M24L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607153	NM_000786.4(CYP51A1):c.64C>A (p.Gln22Lys)	CYP51A1 (Q22K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270703	NM_000786.4(CYP51A1):c.50G>C (p.Gly17Ala)	CYP51A1 (G17A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079762	NM_000786.4(CYP51A1):c.47G>T (p.Gly16Val)	CYP51A1 (G16V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3054962	NM_000786.4(CYP51A1):c.44C>T (p.Ala15Val)	CYP51A1 (A15V)	Single nucleotide variant (missense variant +1 more)	CYP51A1-related disorder	GLikely benign
Select item 1691580	NM_000786.4(CYP51A1):c.-49T>C	CYP51A1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1194527	NM_001146152.2(CYP51A1):c.-198G>A	CYP51A1, CYP51A1-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1250224	NM_001146152.2(CYP51A1):c.-246G>A	CYP51A1, CYP51A1-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1279584	NC_000007.14:g.92134814C>A	CYP51A1, CYP51A1-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 3245752	NC_000007.13:g.(?_91502908)_(91871449_?)del	AKAP9, CYP51A1 +4 more	Deletion	Cerebral cavernous malformation	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	ABCB1, ABCB4 +50 more	Copy number gain	not specified	GPathogenic
Select item 1299385	NC_000007.13:g.(91715729_91718698)_(91864237_91972337)del	AKAP9, ANKIB1 +4 more	Deletion	Cerebral cavernous malformation	GPathogenic
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 1676394	NM_000786.4(CYP51A1):c.1291C>T (p.Arg431Cys)	CYP51A1 (R326C +1 more)	Single nucleotide variant	not provided	GUncertain significance

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Items: 96