HAAO[gene] - ClinVar

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

Search results

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 59144	GRCh38/hg38 2p21(chr2:41999414-42915744)x3	OXER1, PKDCC +53 more	Copy number gain	See cases	GPathogenic
Select item 2369733	NM_012205.3(HAAO):c.857G>T (p.Gly286Val)	HAAO (G286V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620324	NM_012205.3(HAAO):c.740G>C (p.Ser247Thr)	HAAO (S247T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044237	NM_012205.3(HAAO):c.703G>C (p.Gly235Arg)	HAAO (G235R)	Single nucleotide variant (missense variant)	HAAO-related condition	GBenign
Select item 1704828	NM_012205.3(HAAO):c.681C>T (p.Asp227=)	HAAO	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2636229	NM_012205.3(HAAO):c.658G>A (p.Glu220Lys)	HAAO (E220K)	Single nucleotide variant (missense variant)	HAAO-related condition	GUncertain significance
Select item 3037735	NM_012205.3(HAAO):c.641A>G (p.Tyr214Cys)	HAAO (Y214C)	Single nucleotide variant (missense variant)	HAAO-related condition	GBenign
Select item 1285319	NM_012205.3(HAAO):c.630+34C>T	HAAO	Single nucleotide variant (intron variant)	Vertebral, cardiac, renal, and limb defects syndrome 1	GBenign
Select item 3048637	NM_012205.3(HAAO):c.576G>A (p.Arg192=)	HAAO	Single nucleotide variant (synonymous variant)	HAAO-related condition	GLikely benign
Select item 2338647	NM_012205.3(HAAO):c.566G>A (p.Ser189Asn)	HAAO (S189N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 403728	NM_012205.3(HAAO):c.558G>A (p.Trp186Ter)	HAAO (W186*)	Single nucleotide variant (nonsense)	Vertebral, cardiac, renal, and limb defects syndrome 1 +1 more	GPathogenic
Select item 2529415	NM_012205.3(HAAO):c.524G>A (p.Arg175Gln)	HAAO (R175Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1707511	NM_012205.3(HAAO):c.524G>C (p.Arg175Pro)	HAAO (R175P)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 1	GUncertain significance
Select item 403727	NM_012205.3(HAAO):c.483dup (p.Asp162Ter)	HAAO (D162*)	Duplication (nonsense)	Vertebral, cardiac, renal, and limb defects syndrome 1 +1 more	GPathogenic
Select item 1285320	NM_012205.3(HAAO):c.440+19C>T	HAAO	Single nucleotide variant (intron variant)	Vertebral, cardiac, renal, and limb defects syndrome 1	GBenign
Select item 1707517	NM_012205.3(HAAO):c.431T>C (p.Ile144Thr)	HAAO (I144T)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 1	GUncertain significance
Select item 2595609	NM_012205.3(HAAO):c.412G>A (p.Gly138Ser)	HAAO (G138S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525051	NM_012205.3(HAAO):c.406G>A (p.Asp136Asn)	HAAO (D136N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2503399	NM_012205.3(HAAO):c.383T>C (p.Phe128Ser)	HAAO (F128S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988088	NM_012205.3(HAAO):c.323G>A (p.Arg108Gln)	HAAO (R108Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 988087	NM_012205.3(HAAO):c.301G>T (p.Gly101Trp)	HAAO (G101W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2331610	NM_012205.3(HAAO):c.298G>A (p.Val100Met)	HAAO (V100M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3065740	NM_012205.3(HAAO):c.251T>C (p.Leu84Pro)	HAAO (L84P)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 1	GLikely pathogenic
Select item 804383	NM_012205.3(HAAO):c.243+1G>A	HAAO	Single nucleotide variant (splice donor variant)	Vertebral, cardiac, renal, and limb defects syndrome 1	GLikely pathogenic
Select item 2400981	NM_012205.3(HAAO):c.226G>C (p.Val76Leu)	HAAO (V76L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352800	NM_012205.3(HAAO):c.217C>T (p.Arg73Trp)	HAAO (R73W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344674	NM_012205.3(HAAO):c.199C>G (p.Leu67Val)	HAAO (L67V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491037	NM_012205.3(HAAO):c.186G>A (p.Met62Ile)	HAAO (M62I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3040072	NM_012205.3(HAAO):c.144C>T (p.Ile48=)	HAAO	Single nucleotide variant (synonymous variant)	HAAO-related condition	GBenign
Select item 988085	NM_012205.3(HAAO):c.141C>A (p.His47Gln)	HAAO (H47Q)	Single nucleotide variant (missense variant)	Congenital NAD deficiency disorder +1 more	GPathogenic
Select item 988084	NM_012205.3(HAAO):c.128G>A (p.Arg43Lys)	HAAO (R43K)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 3047410	NM_012205.3(HAAO):c.125C>G (p.Thr42Ser)	HAAO (T42S)	Single nucleotide variant (missense variant)	HAAO-related condition	GLikely benign
Select item 1285321	NM_012205.3(HAAO):c.124A>T (p.Thr42Ser)	HAAO (T42S)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 1	GBenign
Select item 2511159	NM_012205.3(HAAO):c.118C>T (p.Pro40Ser)	HAAO (P40S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039791	NM_012205.3(HAAO):c.111C>T (p.Ile37=)	HAAO	Single nucleotide variant (synonymous variant)	HAAO-related condition	GBenign
Select item 1285322	NM_012205.3(HAAO):c.109A>G (p.Ile37Val)	HAAO (I37V)	Single nucleotide variant (missense variant)	Vertebral, cardiac, renal, and limb defects syndrome 1	GBenign
Select item 1285323	NM_012205.3(HAAO):c.81-10C>T	HAAO	Single nucleotide variant (intron variant)	Vertebral, cardiac, renal, and limb defects syndrome 1	GBenign
Select item 988086	NM_012205.3(HAAO):c.43del (p.Arg15fs)	HAAO, LOC129933588 (R15fs)	Deletion (frameshift variant)	Congenital NAD deficiency disorder +1 more	GPathogenic
Select item 1683650	NM_012205.3(HAAO):c.21del (p.Arg8fs)	HAAO, LOC129933588 (R8fs)	Deletion (frameshift variant)	Vertebral, cardiac, renal, and limb defects syndrome 1	GLikely pathogenic
Select item 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	ABCG5, ABCG8 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526452	GRCh37/hg19 2p22.1-21(chr2:39751028-43437611)	COX7A2L, EML4 +9 more	Copy number loss	not specified	GUncertain significance
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	GALNT14, GAREM2 +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 429039	NC_000002.11:g.38121110_47669522inv	PKDCC, PLEKHH2 +52 more	Inversion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 394466	GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3	ALK, ARHGEF33 +70 more	Copy number gain	See cases	GPathogenic

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: 56