C2749659[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 338328	NM_080628.3(TLDC2):c.*18-938G>C	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GBenign
Select item 897681	NM_080628.3(TLDC2):c.*18-812A>G	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Chilblain lupus 2 +1 more	GUncertain significance
Select item 897682	NM_080628.3(TLDC2):c.*18-801C>T	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Chilblain lupus 2 +1 more	GUncertain significance
Select item 897683	NM_080628.3(TLDC2):c.*18-647C>G	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Chilblain lupus 2 +1 more	GUncertain significance
Select item 338329	NM_080628.3(TLDC2):c.*18-641T>G	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 898843	NM_080628.3(TLDC2):c.*18-578G>A	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Chilblain lupus 2 +1 more	GUncertain significance
Select item 338330	NM_080628.3(TLDC2):c.*18-559G>A	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GBenign
Select item 338331	NM_080628.3(TLDC2):c.*18-466G>A	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 898844	NM_080628.3(TLDC2):c.*18-435A>T	TLDC2, SAMHD1	Single nucleotide variant (3 prime UTR variant +1 more)	Chilblain lupus 2 +1 more	GUncertain significance
Select item 338332	NM_080628.3(TLDC2):c.*18-433T>C	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 338333	NM_080628.3(TLDC2):c.*18-292C>T	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 338334	NM_080628.3(TLDC2):c.*18-218T>C	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GBenign
Select item 338335	NM_080628.3(TLDC2):c.*18-170C>T	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 896157	NM_080628.3(TLDC2):c.*18-50G>A	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Chilblain lupus 2 +1 more	GBenign/Likely benign
Select item 896158	NM_080628.3(TLDC2):c.*18-34C>G	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 338336	NM_080628.3(TLDC2):c.*18-25A>G	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Chilblain lupus 2 +1 more	GConflicting classifications of pathogenicity
Select item 338337	NM_080628.3(TLDC2):c.*18-1G>T	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 338338	NM_080628.3(TLDC2):c.*28T>C	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 5 +2 more	GBenign/Likely benign
Select item 338339	NM_080628.3(TLDC2):c.*43G>A	TLDC2, SAMHD1	Single nucleotide variant (3 prime UTR variant)	Chilblain lupus 2 +1 more	GBenign
Select item 338340	NM_015474.4(SAMHD1):c.1735A>G (p.Thr579Ala)	SAMHD1 (T579A +1 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 897758	NM_015474.4(SAMHD1):c.1725C>T (p.Asp575=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 338341	NM_015474.4(SAMHD1):c.1692C>T (p.Ala564=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5 +2 more	GBenign
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 898905	NM_015474.4(SAMHD1):c.1444A>G (p.Ser482Gly)	SAMHD1 (S482G)	Single nucleotide variant (missense variant)	Chilblain lupus 2 +1 more	GUncertain significance
Select item 895945	NM_015474.4(SAMHD1):c.1410+12G>T	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
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 126406	NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter)	SAMHD1 (R442*)	Single nucleotide variant (nonsense)	Aicardi-Goutieres syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 895947	NM_015474.4(SAMHD1):c.1271-5G>A	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 338344	NM_015474.4(SAMHD1):c.1037A>C (p.Glu346Ala)	SAMHD1 (E346A)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 896227	NM_015474.4(SAMHD1):c.1015C>T (p.Arg339Cys)	SAMHD1 (R339C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 896228	NM_015474.4(SAMHD1):c.990T>C (p.Asp330=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 897830	NM_015474.4(SAMHD1):c.933C>T (p.Asp311=)	SAMHD1	Single nucleotide variant (synonymous variant)	Chilblain lupus 2 +1 more	GUncertain significance
Select item 338345	NM_015474.4(SAMHD1):c.840C>T (p.Val280=)	SAMHD1	Single nucleotide variant (synonymous variant)	Chilblain lupus 2 +1 more	GConflicting classifications of pathogenicity
Select item 338346	NM_015474.4(SAMHD1):c.697-11A>G	SAMHD1	Single nucleotide variant (intron variant)	Chilblain lupus 2 +1 more	GConflicting classifications of pathogenicity
Select item 126413	NM_015474.4(SAMHD1):c.649_650insG (p.Phe217fs)	SAMHD1 (F217fs)	Insertion (frameshift variant)	Aicardi-Goutieres syndrome 5	GPathogenic
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 897831	NM_015474.4(SAMHD1):c.543A>T (p.Ala181=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 338347	NM_015474.4(SAMHD1):c.401G>A (p.Arg134Gln)	SAMHD1 (R134Q)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 338348	NM_015474.4(SAMHD1):c.334G>A (p.Val112Ile)	SAMHD1 (V112I)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5 +2 more	GLikely benign
Select item 338349	NM_015474.4(SAMHD1):c.195G>T (p.Leu65=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5 +2 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
Select item 338351	NM_015474.4(SAMHD1):c.67T>A (p.Ser23Thr)	SAMHD1 (S23T)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 338352	NM_015474.4(SAMHD1):c.-10A>G	SAMHD1	Single nucleotide variant (5 prime UTR variant)	Aicardi-Goutieres syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 338353	NM_015474.4(SAMHD1):c.-31T>C	SAMHD1	Single nucleotide variant (5 prime UTR variant)	Chilblain lupus 2 +1 more	GConflicting classifications of pathogenicity
Select item 338354	NM_015474.4(SAMHD1):c.-39C>A	SAMHD1	Single nucleotide variant (5 prime UTR variant)	Aicardi-Goutieres syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 338355	NM_015474.3(SAMHD1):c.-110T>C	SAMHD1	Single nucleotide variant	Aicardi-Goutieres syndrome 5 +1 more	GBenign
Select item 338356	NM_015474.3(SAMHD1):c.-166G>T	SAMHD1	Single nucleotide variant	Aicardi-Goutieres syndrome 5 +1 more	GBenign/Likely benign

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Items: 50