HAO2[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +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 3104189	NM_016527.4(HAO2):c.65G>A (p.Arg22Gln)	HAO2 (R22Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558709	NM_016527.4(HAO2):c.143G>A (p.Arg48His)	HAO2 (R61H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104183	NM_016527.4(HAO2):c.146C>T (p.Pro49Leu)	HAO2 (P62L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104184	NM_016527.4(HAO2):c.148C>T (p.Arg50Trp)	HAO2 (R50W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307284	NM_016527.4(HAO2):c.206T>G (p.Ile69Ser)	HAO2 (I69S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104185	NM_016527.4(HAO2):c.247C>T (p.Leu83Phe)	HAO2 (L83F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308094	NM_016527.4(HAO2):c.311T>C (p.Ile104Thr)	HAO2 (I104T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297175	NM_016527.4(HAO2):c.335G>A (p.Ser112Asn)	HAO2 (S125N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243095	NM_016527.4(HAO2):c.337C>G (p.Leu113Val)	HAO2 (L126V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104186	NM_016527.4(HAO2):c.425T>A (p.Ile142Asn)	HAO2 (I155N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104187	NM_016527.4(HAO2):c.429G>C (p.Gln143His)	HAO2 (Q143H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104188	NM_016527.4(HAO2):c.481G>C (p.Val161Leu)	HAO2 (V161L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283453	NM_016527.4(HAO2):c.509G>A (p.Arg170Gln)	HAO2 (R183Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2258000	NM_016527.4(HAO2):c.514C>A (p.Gln172Lys)	HAO2 (Q185K +1 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2388362	NM_016527.4(HAO2):c.773T>C (p.Ile258Thr)	HAO2 (I201T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329020	NM_016527.4(HAO2):c.824A>T (p.Tyr275Phe)	HAO2 (Y288F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104190	NM_016527.4(HAO2):c.842G>A (p.Arg281Gln)	HAO2 (R224Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247688	NM_016527.4(HAO2):c.887G>T (p.Cys296Phe)	HAO2 (C239F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104191	NM_016527.4(HAO2):c.902G>A (p.Arg301Lys)	HAO2 (R314K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408120	NM_016527.4(HAO2):c.970A>G (p.Asn324Asp)	HAO2 (N324D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214728	NM_016527.4(HAO2):c.1012G>T (p.Val338Phe)	HAO2 (V338F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486081	NM_016527.4(HAO2):c.1028G>A (p.Arg343Gln)	HAO2 (R343Q +2 more)	Single nucleotide variant (missense variant)	not specified	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)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +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

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Items: 48