DOHH[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 60070	GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1	APBA3, ATCAY +121 more	Copy number loss	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 60233	GRCh38/hg38 19p13.3(chr19:3080621-3730716)x3	CACTIN, CACTIN-AS1 +79 more	Copy number gain	See cases	GUncertain significance
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 146498	GRCh38/hg38 19p13.3(chr19:3437996-4039217)x1	APBA3, ATCAY +71 more	Copy number loss	See cases	GPathogenic
Select item 1285601	NM_001145165.2(DOHH):c.840T>A (p.Tyr280Ter)	DOHH (Y280*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment +1 more	GPathogenic
Select item 2401851	NM_001145165.2(DOHH):c.827C>T (p.Ala276Val)	DOHH (A276V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085151	NM_001145165.2(DOHH):c.802G>A (p.Val268Met)	DOHH (V268M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1285603	NM_001145165.2(DOHH):c.746T>C (p.Ile249Thr)	DOHH (I249T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment +1 more	GPathogenic
Select item 2259446	NM_001145165.2(DOHH):c.742G>A (p.Ala248Thr)	DOHH (A248T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553289	NM_001145165.2(DOHH):c.713T>G (p.Val238Gly)	DOHH (V238G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276724	NM_001145165.2(DOHH):c.700G>A (p.Glu234Lys)	DOHH (E234K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1285606	NM_001145165.2(DOHH):c.668C>T (p.Pro223Leu)	DOHH (P223L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment	GUncertain significance
Select item 3273441	NM_001145165.2(DOHH):c.662C>T (p.Ala221Val)	DOHH (A221V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1285602	NM_001145165.2(DOHH):c.654_655insAACC (p.Glu219fs)	DOHH (E219fs)	Insertion (frameshift variant)	Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment	GPathogenic/Likely pathogenic
Select item 3085148	NM_001145165.2(DOHH):c.596A>C (p.His199Pro)	DOHH (H199P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205098	NM_001145165.2(DOHH):c.562G>A (p.Glu188Lys)	DOHH (E188K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1285605	NM_001145165.2(DOHH):c.552C>A (p.Asn184Lys)	DOHH (N184K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment +1 more	GPathogenic
Select item 2536007	NM_001145165.2(DOHH):c.541G>T (p.Ala181Ser)	DOHH (A181S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251759	NM_001145165.2(DOHH):c.524G>C (p.Arg175Pro)	DOHH (R175P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294347	NM_001145165.2(DOHH):c.511C>A (p.Pro171Thr)	DOHH (P171T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327673	NM_001145165.2(DOHH):c.491C>T (p.Ala164Val)	DOHH (A164V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223280	NM_001145165.2(DOHH):c.479G>A (p.Arg160His)	DOHH (R160H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312278	NM_001145165.2(DOHH):c.478C>T (p.Arg160Cys)	DOHH (R160C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648987	NM_001145165.2(DOHH):c.477G>T (p.Gly159=)	DOHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1285604	NM_001145165.2(DOHH):c.455C>T (p.Pro152Leu)	DOHH (P152L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment +1 more	GConflicting classifications of pathogenicity
Select item 2430263	NM_001145165.2(DOHH):c.446C>G (p.Pro149Arg)	DOHH (P149R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment	GUncertain significance
Select item 3273442	NM_001145165.2(DOHH):c.388G>A (p.Glu130Lys)	DOHH (E130K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510286	NM_001145165.2(DOHH):c.349G>A (p.Glu117Lys)	DOHH (E117K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085146	NM_001145165.2(DOHH):c.346A>C (p.Ile116Leu)	DOHH (I116L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487200	NM_001145165.2(DOHH):c.308T>G (p.Val103Gly)	DOHH (V103G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1285600	NM_001145165.2(DOHH):c.304del (p.Glu102fs)	DOHH (E102fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment +1 more	GPathogenic
Select item 2596290	NM_001145165.2(DOHH):c.283C>A (p.Leu95Met)	DOHH (L95M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085145	NM_001145165.2(DOHH):c.263G>A (p.Arg88His)	DOHH (R88H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2430264	NM_001145165.2(DOHH):c.224T>G (p.Val75Gly)	DOHH (V75G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment	GUncertain significance
Select item 3085144	NM_001145165.2(DOHH):c.206G>A (p.Arg69His)	DOHH (R69H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085143	NM_001145165.2(DOHH):c.154G>A (p.Ala52Thr)	DOHH (A52T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515936	NM_001145165.2(DOHH):c.104G>A (p.Gly35Asp)	DOHH (G35D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273440	NM_001145165.2(DOHH):c.94C>T (p.Arg32Cys)	DOHH (R32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085152	NM_001145165.2(DOHH):c.83T>C (p.Leu28Pro)	DOHH (L28P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085149	NM_001145165.2(DOHH):c.67G>A (p.Ala23Thr)	DOHH (A23T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405316	NM_001145165.2(DOHH):c.58C>T (p.Pro20Ser)	DOHH (P20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248515	NC_000019.9:g.(?_2430909)_(4171966_?)del	APBA3, ATCAY +42 more	Deletion	RASopathy	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ADAMTSL5, PLEKHJ1 +106 more	Copy number gain	not provided	GPathogenic
Select item 686934	GRCh37/hg19 19p13.3(chr19:3134686-3501127)x3	CELF5, DOHH +5 more	Copy number gain	not provided	GUncertain significance
Select item 686923	GRCh37/hg19 19p13.3(chr19:3132909-3907470)x3	APBA3, ATCAY +20 more	Copy number gain	not provided	GUncertain significance
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 635917	NC_000019.9:g.1406030_3597207dup	AP3D1, SPPL2B +64 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 635915	Single allele	ATCAY, CACTIN +50 more	Deletion	Internal malformations	GUncertain significance
Select item 625734	GRCh37/hg19 19p13.3(chr19:3076808-4796782)	ANKRD24, APBA3 +48 more	Copy number loss	not provided	GPathogenic
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 63