ClinVar for Gene (Select 29128) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2619448	NM_001048201.3(UHRF1):c.1150G>A (p.Ala384Thr)	UHRF1 (A384T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551552	NM_001048201.3(UHRF1):c.925G>A (p.Val309Met)	UHRF1 (V309M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538717	NM_001048201.3(UHRF1):c.1081C>T (p.Pro361Ser)	UHRF1 (P374S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530148	NM_001048201.3(UHRF1):c.482G>A (p.Arg161Gln)	UHRF1 (R174Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528073	NM_001048201.3(UHRF1):c.389C>T (p.Thr130Met)	UHRF1 (T130M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518841	NM_001048201.3(UHRF1):c.-10-23G>T	ARRDC5, UHRF1 (V3F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2494138	NM_001048201.3(UHRF1):c.88C>G (p.Arg30Gly)	ARRDC5, UHRF1 (R30G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481404	NM_001048201.3(UHRF1):c.211C>T (p.Leu71Phe)	UHRF1 (L71F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473913	NM_001048201.3(UHRF1):c.844C>T (p.Arg282Trp)	UHRF1 (R282W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ABCA7, ABHD17A +151 more	Duplication	not provided	GUncertain significance
Select item 2355399	NM_001048201.3(UHRF1):c.2339C>T (p.Thr780Ile)	UHRF1 (T780I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317610	NM_001048201.3(UHRF1):c.1140C>G (p.Ser380Arg)	UHRF1 (S380R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311281	NM_001048201.3(UHRF1):c.610G>A (p.Val204Ile)	UHRF1 (V204I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288508	NM_001048201.3(UHRF1):c.2360C>T (p.Pro787Leu)	UHRF1 (P787L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273388	NM_001048201.3(UHRF1):c.1126C>T (p.Arg376Trp)	UHRF1 (R389W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265004	NM_001048201.3(UHRF1):c.566A>G (p.Asp189Gly)	UHRF1 (D189G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260641	NM_001048201.3(UHRF1):c.802G>A (p.Asp268Asn)	UHRF1 (D268N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221773	NM_001048201.3(UHRF1):c.503A>G (p.Glu168Gly)	UHRF1 (E181G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210781	NM_001048201.3(UHRF1):c.36G>C (p.Gln12His)	UHRF1, ARRDC5 (Q25H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209995	NM_001048201.3(UHRF1):c.1753G>C (p.Asp585His)	UHRF1 (D598H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207521	NM_001048201.3(UHRF1):c.881T>C (p.Met294Thr)	UHRF1 (M294T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1340547	GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1	ANKRD24, APBA3 +46 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)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 155547	GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1	ANKRD24, ARRDC5 +150 more	Copy number loss	See cases	GLikely pathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	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 144751	GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3	ANKRD24, ARRDC5 +145 more	Copy number gain	See cases	GUncertain significance
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 32