OAF[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 151354	GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1	ACRV1, ARHGEF12 +255 more	Copy number loss	See cases	GPathogenic
Select item 2292609	NM_178507.4(OAF):c.10C>G (p.Pro4Ala)	LOC130006914, OAF (P4A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301789	NM_178507.4(OAF):c.50T>C (p.Leu17Pro)	LOC130006914, OAF (L17P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397928	NM_178507.4(OAF):c.58C>T (p.Leu20Phe)	LOC130006914, OAF (L20F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301787	NM_178507.4(OAF):c.125A>G (p.Gln42Arg)	OAF (Q42R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203626	NM_178507.4(OAF):c.161C>G (p.Ala54Gly)	OAF (A54G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315418	NM_178507.4(OAF):c.282G>C (p.Gln94His)	OAF (Q94H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622979	NM_178507.4(OAF):c.287A>G (p.Gln96Arg)	OAF (Q96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254934	NM_178507.4(OAF):c.373C>T (p.Pro125Ser)	OAF (P125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386050	NM_178507.4(OAF):c.377G>A (p.Arg126Gln)	OAF (R126Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324320	NM_178507.4(OAF):c.400G>T (p.Val134Phe)	OAF (V134F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387952	NM_178507.4(OAF):c.404G>A (p.Arg135Gln)	OAF (R135Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543025	NM_178507.4(OAF):c.427G>A (p.Asp143Asn)	OAF (D143N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324606	NM_178507.4(OAF):c.440A>G (p.Asn147Ser)	OAF (N147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203627	NM_178507.4(OAF):c.481G>A (p.Val161Met)	OAF (V161M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301788	NM_178507.4(OAF):c.490G>A (p.Glu164Lys)	OAF (E164K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301786	NM_178507.4(OAF):c.514C>T (p.Arg172Cys)	OAF (R172C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203629	NM_178507.4(OAF):c.520G>A (p.Glu174Lys)	OAF (E174K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535404	NM_178507.4(OAF):c.563T>A (p.Val188Glu)	OAF (V188E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335869	NM_178507.4(OAF):c.607C>G (p.Arg203Gly)	OAF (R203G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735074	NM_178507.4(OAF):c.642C>T (p.Cys214=)	OAF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2258412	NM_178507.4(OAF):c.703C>G (p.Arg235Gly)	OAF (R235G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203630	NM_178507.4(OAF):c.704G>A (p.Arg235His)	OAF (R235H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372151	NM_178507.4(OAF):c.709C>T (p.Arg237Trp)	OAF (R237W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409127	NM_178507.4(OAF):c.737G>A (p.Arg246His)	OAF (R246H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 2684657	GRCh37/hg19 11q23.3-24.1(chr11:119688645-122861792)x3	ARHGEF12, BLID +16 more	Copy number gain	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2425350	NC_000011.9:g.(?_119103138)_(121060609_?)dup	ARHGEF12, C1QTNF5 +14 more	Duplication	not provided	GUncertain significance
Select item 2422557	NC_000011.9:g.(?_117209303)_(120133495_?)dup	ABCG4, ARCN1 +54 more	Duplication	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Immunodeficiency 19 +5 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1410294	NC_000011.9:g.(?_116660844)_(121500272_?)dup	APOC3, ARCN1 +73 more	Duplication	not provided	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1015400	NC_000011.9:g.(?_119077108)_(120133495_?)dup	C1QTNF5, CBL +9 more	Duplication	RASopathy	GUncertain significance
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	CD3G, CDON +160 more	Copy number gain	not provided	GPathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +177 more	Copy number gain	not provided	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563882	GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1	ACAD8, ACRV1 +114 more	Copy number loss	not provided	GPathogenic
Select item 563876	GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3	ABCG4, APOA1 +70 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	See cases	GPathogenic
Select item 253601	GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1	ACAD8, ACRV1 +113 more	Copy number loss	See cases	GPathogenic
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	ABCG4, APOA1 +72 more	Copy number gain	See cases	GPathogenic

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Items: 61