2649[HGNC] - ClinVar

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

Search results

Items: 94

	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)	Long QT syndrome 11 +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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 94