HAAO[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +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)	not specified	GUncertain significance
Select item 3104063	NM_012205.3(HAAO):c.791G>C (p.Trp264Ser)	HAAO (W264S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104062	NM_012205.3(HAAO):c.746C>T (p.Ala249Val)	HAAO (A249V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620324	NM_012205.3(HAAO):c.740G>C (p.Ser247Thr)	HAAO (S247T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044237	NM_012205.3(HAAO):c.703G>C (p.Gly235Arg)	HAAO (G235R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 disorder	GUncertain significance
Select item 3037735	NM_012205.3(HAAO):c.641A>G (p.Tyr214Cys)	HAAO (Y214C)	Single nucleotide variant (missense variant)	HAAO-related disorder	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 disorder	GLikely benign
Select item 2338647	NM_012205.3(HAAO):c.566G>A (p.Ser189Asn)	HAAO (S189N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403728	NM_012205.3(HAAO):c.558G>A (p.Trp186Ter)	HAAO (W186*)	Single nucleotide variant (nonsense)	Congenital NAD deficiency disorder +1 more	GPathogenic
Select item 2529415	NM_012205.3(HAAO):c.524G>A (p.Arg175Gln)	HAAO (R175Q)	Single nucleotide variant (missense variant)	not specified	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)	Congenital NAD deficiency disorder +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 3283388	NM_012205.3(HAAO):c.416C>T (p.Thr139Met)	HAAO (T139M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595609	NM_012205.3(HAAO):c.412G>A (p.Gly138Ser)	HAAO (G138S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525051	NM_012205.3(HAAO):c.406G>A (p.Asp136Asn)	HAAO (D136N)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GLikely benign
Select item 3104061	NM_012205.3(HAAO):c.289G>A (p.Ala97Thr)	HAAO (A97T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3104059	NM_012205.3(HAAO):c.233G>A (p.Arg78Gln)	HAAO (R78Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400981	NM_012205.3(HAAO):c.226G>C (p.Val76Leu)	HAAO (V76L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352800	NM_012205.3(HAAO):c.217C>T (p.Arg73Trp)	HAAO (R73W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344674	NM_012205.3(HAAO):c.199C>G (p.Leu67Val)	HAAO (L67V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104058	NM_012205.3(HAAO):c.194G>A (p.Arg65Gln)	HAAO (R65Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2491037	NM_012205.3(HAAO):c.186G>A (p.Met62Ile)	HAAO (M62I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040072	NM_012205.3(HAAO):c.144C>T (p.Ile48=)	HAAO	Single nucleotide variant (synonymous variant)	HAAO-related disorder	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 disorder	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)	not specified	GUncertain significance
Select item 3039791	NM_012205.3(HAAO):c.111C>T (p.Ile37=)	HAAO	Single nucleotide variant (synonymous variant)	HAAO-related disorder	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 3283390	NM_012205.3(HAAO):c.11G>T (p.Arg4Leu)	HAAO, LOC129933588 (R4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	DNAJC27, DNAJC5G +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)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 429039	NC_000002.11:g.38121110_47669522inv	ATP6V1E2, BCYRN1 +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

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Items: 63