HAO2[gene] - ClinVar

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

Search results

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129931064, LOC129931065 +563 more	Copy number gain	See cases	GPathogenic
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic
Select item 151326	GRCh38/hg38 1p12(chr1:118752239-119977596)x3	ADAM30, HAO2 +42 more	Copy number gain	See cases	GLikely benign
Select item 155139	GRCh38/hg38 1p12(chr1:118933857-119977655)x1	ADAM30, HAO2 +38 more	Copy number loss	See cases	GUncertain significance
Select item 150800	GRCh38/hg38 1p12(chr1:119146352-119480599)x3	HAO2, HAO2-IT1 +7 more	Copy number gain	See cases	GLikely benign
Select item 2558709	NM_016527.4(HAO2):c.143G>A (p.Arg48His)	HAO2 (R61H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307284	NM_016527.4(HAO2):c.206T>G (p.Ile69Ser)	HAO2 (I69S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308094	NM_016527.4(HAO2):c.311T>C (p.Ile104Thr)	HAO2 (I104T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297175	NM_016527.4(HAO2):c.335G>A (p.Ser112Asn)	HAO2 (S125N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243095	NM_016527.4(HAO2):c.337C>G (p.Leu113Val)	HAO2 (L126V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258000	NM_016527.4(HAO2):c.514C>A (p.Gln172Lys)	HAO2 (Q185K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358469	NM_016527.4(HAO2):c.590C>T (p.Thr197Ile)	HAO2 (T210I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544550	NM_016527.4(HAO2):c.611G>A (p.Cys204Tyr)	HAO2 (C217Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353467	NM_016527.4(HAO2):c.637A>G (p.Ser213Gly)	HAO2 (S213G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513805	NM_016527.4(HAO2):c.700G>A (p.Val234Met)	HAO2 (V234M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334174	NM_016527.4(HAO2):c.716A>T (p.Gln239Leu)	HAO2 (Q239L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283560	NM_016527.4(HAO2):c.721A>G (p.Ile241Val)	HAO2 (I241V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388362	NM_016527.4(HAO2):c.773T>C (p.Ile258Thr)	HAO2 (I201T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329020	NM_016527.4(HAO2):c.824A>T (p.Tyr275Phe)	HAO2 (Y288F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247688	NM_016527.4(HAO2):c.887G>T (p.Cys296Phe)	HAO2 (C239F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408120	NM_016527.4(HAO2):c.970A>G (p.Asn324Asp)	HAO2 (N324D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214728	NM_016527.4(HAO2):c.1012G>T (p.Val338Phe)	HAO2 (V338F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486081	NM_016527.4(HAO2):c.1028G>A (p.Arg343Gln)	HAO2 (R343Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3063421	GRCh37/hg19 1p12(chr1:119425396-120523902)x3	ADAM30, HAO2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 2685823	GRCh37/hg19 1p12(chr1:119802392-120138388)x3	HSD3B2, HAO2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2685822	GRCh37/hg19 1p12(chr1:119426691-120527495)x3	ADAM30, HAO2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2425620	NC_000001.10:g.(?_119466351)_(120286570_?)del	HAO2, HSD3B1 +5 more	Deletion	PHGDH deficiency	GPathogenic
Select item 1809129	GRCh37/hg19 1p12(chr1:119836835-120151604)x4	HAO2, HSD3B1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1440997	NC_000001.10:g.(?_119427355)_(120529725_?)dup	ADAM30, HAO2 +9 more	Duplication	Hajdu-Cheney syndrome	GUncertain significance
Select item 1411990	NC_000001.10:g.(?_119618953)_(120311467_?)del	HAO2, HMGCS2 +5 more	Deletion	not provided	GUncertain significance
Select item 1340543	GRCh37/hg19 1p12(chr1:119584796-120527495)x3	ADAM30, HAO2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 814119	GRCh37/hg19 1p12(chr1:119836834-120289623)x3	HSD3B1, HAO2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686601	GRCh37/hg19 1p12(chr1:119425395-120527495)x3	ADAM30, HAO2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395148	GRCh37/hg19 1p12(chr1:119806427-120438201)x3	ADAM30, HAO2 +6 more	Copy number gain	See cases	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: 38