C1837315[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 485648	NM_024642.5(GALNT12):c.329G>A (p.Arg110His)	GALNT12 (R110H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 410578	NM_024642.5(GALNT12):c.608A>G (p.Asn203Ser)	GALNT12 (N203S)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 485655	NM_024642.5(GALNT12):c.609C>A (p.Asn203Lys)	GALNT12 (N203K)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 485652	NM_024642.5(GALNT12):c.715G>C (p.Glu239Gln)	GALNT12 (E239Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1025039	NM_024642.5(GALNT12):c.758T>C (p.Val253Ala)	GALNT12 (V253A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 485649	NM_024642.5(GALNT12):c.1339G>A (p.Gly447Arg)	GALNT12 (G447R)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 416221	NM_024642.5(GALNT12):c.1605+4G>A	GALNT12	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 1 +2 more	GBenign/Likely benign
Select item 410576	NM_024642.5(GALNT12):c.1672A>G (p.Ser558Gly)	GALNT12 (S558G)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 236692	NM_000051.4(ATM):c.2579A>T (p.Asp860Val)	ATM (D860V)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +5 more	GUncertain significance