"PreventionGenetics, part of Exact Sciences"[submitter] AND "IL4I1"[ge - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 727035	NM_016553.5(NUP62):c.1338C>T (p.Arg446=)	NUP62, IL4I1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3047740	NM_016553.5(NUP62):c.1146G>A (p.Val382=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	NUP62-related disorder	GLikely benign
Select item 129849	NM_016553.5(NUP62):c.848G>C (p.Ser283Thr)	IL4I1, NUP62 (S283T)	Single nucleotide variant (missense variant +1 more)	NUP62-related disorder +2 more	GBenign
Select item 1525726	NM_016553.5(NUP62):c.841A>G (p.Thr281Ala)	IL4I1, NUP62 (T281A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1673001	NM_016553.5(NUP62):c.756G>C (p.Gly252=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	NUP62-related disorder +1 more	GBenign
Select item 1593202	NM_016553.5(NUP62):c.663C>T (p.Leu221=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	NUP62-related disorder +1 more	GLikely benign
Select item 727480	NM_016553.5(NUP62):c.582G>A (p.Thr194=)	NUP62, IL4I1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3037998	NM_016553.5(NUP62):c.561G>A (p.Thr187=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	NUP62-related disorder	GLikely benign
Select item 129847	NM_016553.5(NUP62):c.549G>A (p.Thr183=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	NUP62-related disorder +1 more	GBenign
Select item 724124	NM_016553.5(NUP62):c.494C>T (p.Thr165Met)	NUP62, IL4I1 (T165M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2074342	NM_016553.5(NUP62):c.237G>A (p.Ala79=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	NUP62-related disorder +1 more	GLikely benign
Select item 211764	NM_016553.5(NUP62):c.192C>T (p.Thr64=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1577776	NM_016553.5(NUP62):c.123G>T (p.Gly41=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	NUP62-related disorder +1 more	GLikely benign