FAM43B[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 149019	GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1	CAMK2N1, CDA +81 more	Copy number loss	See cases	GUncertain significance
Select item 59925	GRCh38/hg38 1p36.12(chr1:20482657-21271999)x1	CAMK2N1, CDA +28 more	Copy number loss	See cases	GPathogenic
Select item 3092425	NM_207334.3(FAM43B):c.74C>A (p.Pro25Gln)	FAM43B (P25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092426	NM_207334.3(FAM43B):c.83C>T (p.Ala28Val)	FAM43B (A28V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092424	NM_207334.3(FAM43B):c.149A>G (p.Glu50Gly)	FAM43B (E50G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558994	NM_207334.3(FAM43B):c.287G>A (p.Gly96Asp)	FAM43B (G96D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274836	NM_207334.3(FAM43B):c.346C>A (p.Pro116Thr)	FAM43B (P116T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264427	NM_207334.3(FAM43B):c.615C>A (p.Phe205Leu)	FAM43B (F205L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277431	NM_207334.3(FAM43B):c.644G>T (p.Arg215Leu)	FAM43B (R215L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246851	NM_207334.3(FAM43B):c.737A>T (p.Tyr246Phe)	FAM43B (Y246F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218856	NM_207334.3(FAM43B):c.757C>A (p.Arg253Ser)	FAM43B (R253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603613	NM_207334.3(FAM43B):c.775C>T (p.Arg259Cys)	FAM43B (R259C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367137	NM_207334.3(FAM43B):c.816G>C (p.Glu272Asp)	FAM43B (E272D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547729	NM_207334.3(FAM43B):c.910G>C (p.Gly304Arg)	FAM43B (G304R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392697	NM_207334.3(FAM43B):c.916C>G (p.Pro306Ala)	FAM43B (P306A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392698	NM_207334.3(FAM43B):c.917C>G (p.Pro306Arg)	FAM43B (P306R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398713	NM_207334.3(FAM43B):c.938A>C (p.Gln313Pro)	FAM43B (Q313P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305611	NM_207334.3(FAM43B):c.946C>A (p.Arg316Ser)	FAM43B (R316S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092427	NM_207334.3(FAM43B):c.958G>A (p.Gly320Ser)	FAM43B (G320S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389090	NM_207334.3(FAM43B):c.982G>T (p.Ala328Ser)	FAM43B (A328S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	AKR7A2, AKR7A3 +49 more	Duplication	Hyperprolinemia type 2 +2 more	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 980392	GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1	EMC1, EPHA2 +73 more	Copy number loss	not provided	GPathogenic
Select item 980391	GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1	AKR7A3, AKR7L +51 more	Copy number loss	not provided	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
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 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 35