ClinVar for Gene (Select 148753) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277218	NM_173509.3(FAM163A):c.292T>G (p.Cys98Gly)	FAM163A (C98G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247901	NC_000001.10:g.(?_179520308)_(183559464_?)del	ACBD6, AXDND1 +29 more	Deletion	not provided	GPathogenic
Select item 3091958	NM_173509.3(FAM163A):c.498C>A (p.Asp166Glu)	FAM163A (D166E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091957	NM_173509.3(FAM163A):c.467C>A (p.Ala156Asp)	FAM163A (A156D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091956	NM_173509.3(FAM163A):c.346G>A (p.Gly116Arg)	FAM163A (G116R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091955	NM_173509.3(FAM163A):c.182C>T (p.Thr61Ile)	FAM163A (T61I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091954	NM_173509.3(FAM163A):c.124G>A (p.Val42Ile)	FAM163A (V42I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 2590149	NM_173509.3(FAM163A):c.401C>A (p.Pro134His)	FAM163A (P134H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535387	NM_173509.3(FAM163A):c.154G>C (p.Asp52His)	FAM163A (D52H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531317	NM_173509.3(FAM163A):c.461G>A (p.Arg154His)	FAM163A (R154H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492299	NM_173509.3(FAM163A):c.115G>A (p.Gly39Arg)	FAM163A (G39R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2462288	NM_173509.3(FAM163A):c.428A>G (p.Gln143Arg)	FAM163A (Q143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325060	NM_173509.3(FAM163A):c.174A>T (p.Arg58Ser)	FAM163A (R58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306496	NM_173509.3(FAM163A):c.113G>T (p.Ser38Ile)	FAM163A (S38I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285228	NM_173509.3(FAM163A):c.292T>C (p.Cys98Arg)	FAM163A (C98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204230	NM_173509.3(FAM163A):c.437C>A (p.Pro146Gln)	FAM163A (P146Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808632	GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1	ACBD6, APOBEC4 +48 more	Copy number loss	not provided	GPathogenic
Select item 1527459	GRCh37/hg19 1q25.2(chr1:179440911-179751622)	AXDND1, FAM163A +2 more	Copy number gain	not specified	GUncertain significance
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1510700	NC_000001.10:g.(?_179520308)_(183559464_?)dup	ACBD6, AXDND1 +29 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979311	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not provided	GPathogenic
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 810664	t(1;5)(q25;q12)	FAM163A	Translocation	Endometriosis	GUncertain significance
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic
Select item 599187	NC_000001.10:g.172652343_183538289del10885947	ANKRD45, ASTN1 +61 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 393869	GRCh37/hg19 1q25.2-25.3(chr1:179564752-183850820)x1	ACBD6, APOBEC4 +30 more	Copy number loss	See cases	GPathogenic
Select item 253471	GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1	ABL2, ACBD6 +46 more	Copy number loss	See cases	GPathogenic
Select item 226132	GRCh37/hg19 1q25.2-25.3(chr1:178806664-181082264)	TOR3A, TOR1AIP1 +19 more	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 151360	GRCh38/hg38 1q25.2(chr1:179721233-179745909)x3	FAM163A, LOC128071543	Copy number gain	See cases	GLikely benign
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 49