P-hydroxybenzoate hydroxylase - ClinVar - NCBI

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The following term was not found in ClinVar: hydroxybenzoate.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 14364	NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter)	PLOD1 (R319* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 14365	NC_000001.11:g.(11959822_11959973)_(11968469_11968718)dup	PLOD1	Duplication	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GPathogenic
Select item 3207719	NM_022356.4(P3H1):c.1928C>G (p.Pro643Arg)	P3H1 (P643R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 852082	NM_022356.4(P3H1):c.1831G>T (p.Asp611Tyr)	P3H1 (D611Y)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 1076376	NM_022356.4(P3H1):c.838C>T (p.Gln280Ter)	P3H1 (Q280*)	Single nucleotide variant (nonsense)	P3H1-related disorder +2 more	GPathogenic
Select item 3207721	NM_022356.4(P3H1):c.377C>G (p.Pro126Arg)	P3H1 (P126R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538705	NM_022356.4(P3H1):c.103C>A (p.Pro35Thr)	P3H1 (P35T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207722	NM_022356.4(P3H1):c.40G>C (p.Ala14Pro)	P3H1 (A14P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 4255	NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)	CYP27A1 (R395C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3207775	NM_177939.3(P4HTM):c.1277C>T (p.Pro426Leu)	P4HTM (P426L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207777	NM_177939.3(P4HTM):c.1459C>T (p.Pro487Ser)	P4HTM (P487S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624072	NM_018192.4(P3H2):c.1952C>T (p.Pro651Leu)	P3H2 (P651L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1916605	NM_018192.4(P3H2):c.916C>T (p.Pro306Ser)	P3H2 (P306S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1038309	NM_018192.4(P3H2):c.467G>C (p.Arg156Pro)	P3H2 (R156P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2622532	NM_018192.4(P3H2):c.290C>G (p.Pro97Arg)	LOC129938149, P3H2 (P97R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 950296	NM_018192.4(P3H2):c.76C>G (p.Pro26Ala)	P3H2 (P26A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1416747	NM_018192.4(P3H2):c.41T>C (p.Leu14Pro)	LOC123464484, P3H2 (L14P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1025074	NM_018192.4(P3H2):c.32T>C (p.Leu11Pro)	LOC123464484, P3H2 (L11P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 802059	NM_000320.3(QDPR):c.421del (p.Leu141fs)	QDPR (L110fs +1 more)	Deletion (frameshift variant +1 more)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GPathogenic
Select item 3062050	NM_000320.3(QDPR):c.49G>A (p.Gly17Ser)	QDPR, LOC129992304 (G17S)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GLikely pathogenic
Select item 2215196	NM_032385.5(FAXDC2):c.694C>A (p.Pro232Thr)	FAXDC2 (P232T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 3254748	NM_000500.9(CYP21A2):c.59G>A (p.Trp20Ter)	LOC106780800, CYP21A2 (W20*)	Single nucleotide variant (nonsense +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic
Select item 12150	NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)	CYP21A2, LOC106780800 (I173N +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1723345	NM_000500.9(CYP21A2):c.[710T>A;713T>A]	CYP21A2, LOC106780800 (V238E +5 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GPathogenic
Select item 1723344	NM_000500.9(CYP21A2):c.[713T>A;719T>A]	CYP21A2, LOC106780800 (V238E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 31662	NM_000500.7(CYP21A2):c.[710T>A;713T>A;719T>A]	CYP21A2, LOC106780800 (V238E +8 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GPathogenic
Select item 1723343	NM_000500.9(CYP21A2):c.[710T>A;719T>A]	CYP21A2, LOC106780800 (M240K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 800629	NM_000500.9(CYP21A2):c.724C>G (p.Leu242Val)	LOC106780800, CYP21A2 (L107V +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 12151	NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)	CYP21A2, LOC106780800 (V282L +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 65611	NM_000500.9(CYP21A2):c.923dup (p.Leu308fs)	CYP21A2, LOC106780800 (L173fs +2 more)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 12169	NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)	CYP21A2, LOC106780800 +1 more (Q319* +2 more)	Single nucleotide variant (nonsense)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +3 more	GPathogenic
Select item 12152	NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp)	CYP21A2, LOC106780800 +1 more (R357W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 596309	NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser)	LOC106780800, CYP21A2 (P483S +2 more)	Single nucleotide variant (missense variant)	CYP21A2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2249	NM_000265.7(NCF1):c.75_76del (p.Tyr26fs)	LOC106029312, NCF1 (Y26fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 1204488	NM_001084.5(PLOD3):c.670G>C (p.Gly224Arg)	PLOD3 (G224R)	Single nucleotide variant (missense variant)	Bone fragility with contractures, arterial rupture, and deafness +1 more	GUncertain significance
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DUSP4, EBF2 +1018 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000275, LOC130000276 +927 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 2545220	NM_014759.5(PHYHIP):c.646C>G (p.Pro216Ala)	PHYHIP (P216A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246902	NM_014759.5(PHYHIP):c.266A>C (p.Gln89Pro)	PHYHIP (Q89P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 2236847	NM_004318.4(ASPH):c.1721C>T (p.Pro574Leu)	ASPH (P531L +40 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273399	NM_004318.4(ASPH):c.932C>T (p.Pro311Leu)	ASPH (P254L +31 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 718344	NM_004318.4(ASPH):c.844C>T (p.Pro282Ser)	ASPH (P253S +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3130443	NM_004318.4(ASPH):c.359C>T (p.Pro120Leu)	ASPH (P120L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539313	NM_004318.4(ASPH):c.148T>C (p.Ser50Pro)	ASPH (S21P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373587	NM_000497.4(CYP11B1):c.1240C>G (p.Pro414Ala)	CYP11B1, LOC106799833 (P414A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1174	NM_000497.4(CYP11B1):c.1121G>A (p.Arg374Gln)	CYP11B1, LOC106799833 (R374Q)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GLikely pathogenic
Select item 1173	NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met)	CYP11B1, LOC106799833 (T318M)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GPathogenic
Select item 910172	NM_000497.4(CYP11B1):c.632T>C (p.Leu211Pro)	CYP11B1, LOC106799833 (L211P)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	KCNQ3, KCNS2 +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	PPDPFL, PPP1R16A +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	CLDN23, LONRF1 +665 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 2603133	NM_000787.4(DBH):c.467C>T (p.Pro156Leu)	DBH (P156L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080168	NM_000787.4(DBH):c.527C>T (p.Pro176Leu)	DBH (P176L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1045487	NM_000787.4(DBH):c.1133C>T (p.Pro378Leu)	DBH (P378L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 365662	NM_000787.4(DBH):c.1451T>C (p.Leu484Pro)	DBH, DBH-AS1 (L484P)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GUncertain significance
Select item 2211351	NM_000787.4(DBH):c.1592C>G (p.Pro531Arg)	DBH, DBH-AS1 (P531R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080166	NM_000787.4(DBH):c.1627C>T (p.Pro543Ser)	DBH, DBH-AS1 (P543S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	UBQLN1, UCK1 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +1221 more	Copy number gain	See cases	GBenign
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic

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