FAM76A[gene] - ClinVar - NCBI

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Items: 18

	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 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 59930	GRCh38/hg38 1p35.3(chr1:27601122-27889441)x1	AHDC1, FAM76A +32 more	Copy number loss	See cases	GPathogenic
Select item 2459374	NM_152660.3(FAM76A):c.19T>C (p.Cys7Arg)	FAM76A (C7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613982	NM_152660.3(FAM76A):c.27G>C (p.Lys9Asn)	FAM76A (K9N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595702	NM_152660.3(FAM76A):c.89G>A (p.Arg30Gln)	FAM76A (R30Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092510	NM_152660.3(FAM76A):c.188A>G (p.Gln63Arg)	FAM76A (Q63R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557682	NM_152660.3(FAM76A):c.226A>G (p.Ile76Val)	FAM76A (I76V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092511	NM_152660.3(FAM76A):c.355G>A (p.Val119Ile)	FAM76A (V119I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092512	NM_152660.3(FAM76A):c.419A>G (p.Lys140Arg)	FAM76A (K174R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513890	NM_152660.3(FAM76A):c.568A>C (p.Lys190Gln)	FAM76A (K224Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092513	NM_152660.3(FAM76A):c.593G>A (p.Gly198Glu)	FAM76A (G198E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 1526429	GRCh37/hg19 1p36.11-35.3(chr1:27488298-28138628)	AHDC1, CD164L2 +11 more	Copy number loss	not specified	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