HAO1[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	MCM8, MCM8-AS1 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC111365169, LOC111365189 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	MIR6869, MIR6870 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC130065416, LOC130065417 +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126862999, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065331, LOC130065332 +300 more	Copy number gain	See cases	GPathogenic
Select item 148980	GRCh38/hg38 20p12.3(chr20:6186076-8804328)x3	BMP2, CASC20 +34 more	Copy number gain	See cases	GUncertain significance
Select item 57236	GRCh38/hg38 20p12.3(chr20:6336607-8577546)x1	BMP2, CASC20 +30 more	Copy number loss	See cases	GPathogenic
Select item 145966	GRCh38/hg38 20p12.3-12.1(chr20:6617695-13392559)x1	ANKEF1, BMP2 +109 more	Copy number loss	See cases	GPathogenic
Select item 56985	GRCh38/hg38 20p12.3(chr20:7123110-8577546)x3	HAO1, LINC01428 +19 more	Copy number gain	See cases	GPathogenic
Select item 154280	GRCh38/hg38 20p12.3(chr20:7125410-8606171)x3	HAO1, LINC01428 +20 more	Copy number gain	See cases	GUncertain significance
Select item 151012	GRCh38/hg38 20p12.3(chr20:7137090-8095330)x3	HAO1, LINC01428 +12 more	Copy number gain	See cases	GUncertain significance
Select item 149633	GRCh38/hg38 20p12.3(chr20:7336200-8078349)x3	HAO1, LINC01706 +9 more	Copy number gain	See cases	GLikely benign
Select item 58946	GRCh38/hg38 20p12.3-12.2(chr20:7566644-11028694)x1	ANKEF1, HAO1 +71 more	Copy number loss	See cases	GPathogenic
Select item 126880	NM_017545.2(HAO1):c.*697T>C	HAO1	Single nucleotide variant	Nephrolithiasis, calcium oxalate	Gassociation
Select item 2531476	NM_017545.3(HAO1):c.1099G>A (p.Val367Ile)	HAO1 (V367I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214302	NM_017545.3(HAO1):c.952G>A (p.Val318Ile)	HAO1 (V318I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2341964	NM_017545.3(HAO1):c.883C>T (p.Arg295Trp)	HAO1 (R295W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293786	NM_017545.3(HAO1):c.826C>T (p.Pro276Ser)	HAO1 (P276S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376332	NM_017545.3(HAO1):c.817G>A (p.Asp273Asn)	HAO1 (D273N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 222034	NM_017545.3(HAO1):c.814-1G>C	HAO1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 126881	NM_017545.3(HAO1):c.814-2945A>G	HAO1	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126882	NM_017545.3(HAO1):c.814-4211G>A	HAO1	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 2210554	NM_017545.3(HAO1):c.773C>T (p.Ser258Leu)	HAO1 (S258L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 126883	NM_017545.3(HAO1):c.721+1617G>C	HAO1	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 2236314	NM_017545.3(HAO1):c.631A>G (p.Lys211Glu)	HAO1 (K211E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221838	NM_017545.3(HAO1):c.553A>T (p.Asn185Tyr)	HAO1 (N185Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 126884	NM_017545.3(HAO1):c.545+1171T>C	HAO1	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 2231394	NM_017545.3(HAO1):c.515G>A (p.Arg172His)	HAO1 (R172H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293233	NM_017545.3(HAO1):c.478G>C (p.Asp160His)	HAO1 (D160H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540864	NM_017545.3(HAO1):c.392T>C (p.Leu131Pro)	HAO1 (L131P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312532	NM_017545.3(HAO1):c.295C>G (p.Gln99Glu)	HAO1 (Q99E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 126885	NM_017545.3(HAO1):c.290-1983G>A	HAO1	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126886	NM_017545.3(HAO1):c.290-4862A>G	HAO1	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126887	NM_017545.3(HAO1):c.289+8188C>T	HAO1	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126888	NM_017545.3(HAO1):c.289+5965C>T	HAO1	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126889	NM_017545.3(HAO1):c.289+2189G>C	HAO1	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 2242956	NM_017545.3(HAO1):c.188C>T (p.Ser63Leu)	HAO1 (S63L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 126890	NM_017545.3(HAO1):c.137+329T>C	HAO1	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 2251990	NM_017545.3(HAO1):c.97G>A (p.Asp33Asn)	HAO1 (D33N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062400	GRCh37/hg19 20p12.3-12.2(chr20:7856703-11991178)x1	ANKEF1, BTBD3 +10 more	Copy number loss	not specified	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SLC24A3, SLC4A11 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TRIB3, TRMT6 +114 more	Copy number gain	not provided	GPathogenic
Select item 2685640	GRCh37/hg19 20p12.3(chr20:7106058-8573589)x1	HAO1, PLCB1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 1808528	GRCh37/hg19 20p12.3(chr20:7106058-8586513)x3	HAO1, PLCB1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808071	GRCh37/hg19 20p12.3(chr20:7548252-8315350)x4	HAO1, PLCB1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1706563	GRCh37/hg19 20p12.3(chr20:7106057-8085390)x3	HAO1, TMX4	Copy number gain	Autism	GUncertain significance
Select item 1703638	GRCh37/hg19 20p13-12.2(chr20:3178539-11848383)	ADAM33, ADRA1D +47 more	Copy number loss	20p12.3 microdeletion syndrome	GPathogenic
Select item 1526679	GRCh37/hg19 20p12.3-12.1(chr20:7352576-12248958)	ANKEF1, BTBD3 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1440938	NC_000020.10:g.(?_7812350)_(10654278_?)dup	ANKEF1, HAO1 +9 more	Duplication	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 1341039	GRCh37/hg19 20p12.3(chr20:7036007-8138271)x3	HAO1, PLCB1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 816112	GRCh37/hg19 20p12.3(chr20:7374347-8111284)x3	HAO1, TMX4	Copy number gain	not provided	GLikely benign
Select item 816111	GRCh37/hg19 20p12.3(chr20:7052456-8140338)x3	TMX4, PLCB1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 689062	GRCh37/hg19 20p12.3(chr20:7092284-8586513)x3	HAO1, PLCB1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687572	GRCh37/hg19 20p12.3(chr20:7548348-8317079)x3	HAO1, PLCB1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687480	GRCh37/hg19 20p12.3(chr20:7106057-8572824)x3	HAO1, PLCB1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687096	GRCh37/hg19 20p12.3(chr20:7106288-8572965)x1	HAO1, PLCB1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 564645	GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1	FERMT1, SPTLC3 +62 more	Copy number loss	not provided	GPathogenic
Select item 564644	GRCh37/hg19 20p12.3-12.1(chr20:7604120-14739025)x3	BTBD3, TMX4 +18 more	Copy number gain	not provided	GPathogenic
Select item 564641	GRCh37/hg19 20p12.3(chr20:7092359-8586513)x3	HAO1, PLCB1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 564640	GRCh37/hg19 20p12.3(chr20:7716643-9158286)x1	PLCB1, TMX4 +2 more	Copy number loss	not provided	GUncertain significance
Select item 443887	GRCh37/hg19 20p12.3(chr20:7106057-8586513)x3	HAO1, PLCB1 +1 more	Copy number gain	See cases	GLikely benign
Select item 443885	GRCh37/hg19 20p13-12.3(chr20:2463101-8185680)x1	ADAM33, ADRA1D +58 more	Copy number loss	See cases	GPathogenic
Select item 443774	GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3	ADAM33, ADISSP +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 443501	GRCh37/hg19 20p12.3(chr20:6143179-8611534)x1	BMP2, HAO1 +2 more	Copy number loss	See cases	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 441050	GRCh37/hg19 20p12.3(chr20:7103757-8558193)x3	HAO1, PLCB1 +1 more	Copy number gain	not provided	Gnot provided
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	CST1, NAPB +178 more	Copy number gain	not provided	GPathogenic
Select item 424639	GRCh37/hg19 20p12.3(chr20:7103757-8075977)x3	HAO1, TMX4	Copy number gain	not specified	GUncertain significance
Select item 394208	GRCh37/hg19 20p13-12.1(chr20:4392930-12667768)x1	ANKEF1, BMP2 +28 more	Copy number loss	See cases	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 2674697	NM_017545.3(HAO1):c.493G>T (p.Gly165Cys)	HAO1 (G165C)	Single nucleotide variant (missense variant)	glycolate oxidase deficiency	GPathogenic

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Items: 79