C0393591[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 126395	NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)	ADAR (P193A +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	ADAR-related condition +6 more	GConflicting classifications of pathogenicity
Select item 345761	NM_130384.3(ATRIP):c.*267T>C	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Aicardi Goutieres syndrome +1 more	GLikely benign
Select item 345762	NM_130384.3(ATRIP):c.*272del	ATRIP-TREX1, ATRIP +1 more	Deletion (non-coding transcript variant +1 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +1 more	GLikely benign
Select item 345763	NM_130384.3(ATRIP):c.*495C>T	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi Goutieres syndrome +1 more	GUncertain significance
Select item 345764	NM_130384.3(ATRIP):c.*576G>T	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi Goutieres syndrome +1 more	GUncertain significance
Select item 345765	NM_130384.3(ATRIP):c.*583A>G	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi Goutieres syndrome +1 more	GUncertain significance
Select item 345766	NM_130384.3(ATRIP):c.*655G>C	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi Goutieres syndrome +1 more	GUncertain significance
Select item 345767	NM_130384.3(ATRIP):c.*665C>T	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi Goutieres syndrome +1 more	GLikely benign
Select item 345769	NM_130384.3(ATRIP):c.*714T>C	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GBenign
Select item 345771	NM_130384.3(ATRIP):c.*732CTGC[4]	ATRIP, ATRIP-TREX1 +1 more	Microsatellite (non-coding transcript variant +3 more)	Aicardi Goutieres syndrome +1 more	GUncertain significance
Select item 96241	NM_130384.3(ATRIP):c.*1632=	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Aicardi-Goutieres syndrome 1 +5 more	GBenign
Select item 96242	NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)	ATRIP, ATRIP-TREX1 +1 more (E266G +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi Goutieres syndrome +5 more	GConflicting classifications of pathogenicity
Select item 262243	NM_033629.6(TREX1):c.912G>A (p.Leu304=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +4 more	GBenign
Select item 345780	NM_130384.3(ATRIP):c.*2083T>C	ATRIP, TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign
Select item 305339	NM_032193.4(RNASEH2C):c.*948dup	KAT5, RNASEH2C	Duplication (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 305355	NM_032193.4(RNASEH2C):c.45_46insG	RNASEH2C	Insertion (3 prime UTR variant)	Aicardi Goutieres syndrome	GUncertain significance
Select item 305362	NM_032193.4(RNASEH2C):c.348+6C>T	RNASEH2C	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 305363	NM_032193.4(RNASEH2C):c.265AAG[1] (p.Lys90del)	RNASEH2C (K90del)	Microsatellite (inframe_deletion)	Aicardi Goutieres syndrome +2 more	GBenign/Likely benign
Select item 312322	NM_001142279.2(RNASEH2B):c.-313C>G	RNASEH2B-AS1, LOC130009809 +1 more	Single nucleotide variant (5 prime UTR variant)	Aicardi Goutieres syndrome	GUncertain significance
Select item 1262	NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	RNASEH2B (A177T)	Single nucleotide variant (missense variant)	Abnormality of the nervous system +6 more	GPathogenic/Likely pathogenic
Select item 281198	NM_024570.4(RNASEH2B):c.925dup (p.Ile309fs)	RNASEH2B (I309fs)	Duplication (frameshift variant +1 more)	Aicardi Goutieres syndrome +3 more	GBenign/Likely benign
Select item 328286	NM_006397.3(RNASEH2A):c.-49C>T	LOC117038795, RNASEH2A	Single nucleotide variant (5 prime UTR variant)	Aicardi Goutieres syndrome +1 more	GUncertain significance
Select item 328287	NM_006397.3(RNASEH2A):c.-25A>G	RNASEH2A, LOC117038795	Single nucleotide variant (5 prime UTR variant)	Aicardi Goutieres syndrome	GUncertain significance
Select item 632305	NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)	RNASEH2A (T70fs)	Duplication (frameshift variant)	Aicardi-Goutieres syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 338342	NM_015474.4(SAMHD1):c.1593G>C (p.Arg531Ser)	SAMHD1 (R531S)	Single nucleotide variant (missense variant +1 more)	Aicardi-Goutieres syndrome 5 +3 more	GConflicting classifications of pathogenicity
Select item 582618	NM_015474.4(SAMHD1):c.1445G>A (p.Ser482Asn)	SAMHD1 (S482N)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 338343	NM_015474.4(SAMHD1):c.1393C>A (p.Gln465Lys)	SAMHD1 (Q465K)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 895946	NM_015474.4(SAMHD1):c.1325G>A (p.Arg442Gln)	SAMHD1 (R442Q)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 738990	NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 30605	NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn)	SAMHD1 (I201N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 338350	NM_015474.4(SAMHD1):c.77C>T (p.Pro26Leu)	SAMHD1 (P26L)	Single nucleotide variant (missense variant)	Chilblain lupus 2 +2 more	GConflicting classifications of pathogenicity

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Items: 31