AP1AR[gene] - ClinVar

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

Search results

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 2500791	NC_000004.12:g.110650730_112833790del	ALPK1, ANK2 +55 more	Deletion	Axenfeld-Rieger syndrome type 1	GLikely pathogenic
Select item 267201	NC_000004.10:g.111994000_115504000del3510001	LOC129992997, LOC129992998 +77 more	Deletion	Congenital aniridia	GPathogenic
Select item 145621	GRCh38/hg38 4q25-26(chr4:111069785-116691879)x1	ALPK1, ANK2 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 2466296	NM_018569.6(AP1AR):c.28T>C (p.Phe10Leu)	AP1AR, AP1AR-DT (F10L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127416	NM_018569.6(AP1AR):c.29T>G (p.Phe10Cys)	AP1AR, AP1AR-DT (F10C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3127419	NM_018569.6(AP1AR):c.40C>G (p.Arg14Gly)	AP1AR, AP1AR-DT (R14G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2393195	NM_018569.6(AP1AR):c.53G>A (p.Gly18Glu)	AP1AR, AP1AR-DT (G18E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127421	NM_018569.6(AP1AR):c.62A>G (p.Gln21Arg)	AP1AR (Q21R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278648	NM_018569.6(AP1AR):c.235T>C (p.Ser79Pro)	AP1AR (S79P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224630	NM_018569.6(AP1AR):c.244G>A (p.Glu82Lys)	AP1AR (E82K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526043	NM_018569.6(AP1AR):c.257A>G (p.Asp86Gly)	AP1AR (D86G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225879	NM_018569.6(AP1AR):c.258T>A (p.Asp86Glu)	AP1AR (D86E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520547	NM_018569.6(AP1AR):c.320A>C (p.Glu107Ala)	AP1AR (E107A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3127417	NM_018569.6(AP1AR):c.368G>A (p.Arg123Gln)	AP1AR (R123Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3127420	NM_018569.6(AP1AR):c.589A>G (p.Thr197Ala)	AP1AR (T164A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127422	NM_018569.6(AP1AR):c.826G>A (p.Glu276Lys)	AP1AR (E276K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 767972	NM_018569.6(AP1AR):c.852A>G (p.Val284=)	AP1AR	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3127423	NM_018569.6(AP1AR):c.889A>G (p.Thr297Ala)	AP1AR (T297A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 1703609	GRCh37/hg19 4q25(chr4:112481911-113756889)	ALPK1, ANK2 +11 more	Copy number gain	Neurodevelopmental delay	GUncertain significance
Select item 1527117	GRCh37/hg19 4q25-26(chr4:112849108-115434557)	ALPK1, ANK2 +13 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 980126	GRCh37/hg19 4q25(chr4:111334313-113223858)x1	FAM241A, TIFA +4 more	Copy number loss	not provided	GPathogenic
Select item 686806	GRCh37/hg19 4q25(chr4:113116277-113602286)x3	ALPK1, AP1AR +9 more	Copy number gain	not provided	GUncertain significance
Select item 562956	GRCh37/hg19 4q25(chr4:112901280-113403129)x1	ALPK1, FAM241A +2 more	Copy number loss	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	LRBA, LRIT3 +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 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: 33