ClinVar for Gene (Select 140711) - ClinVar

Links from Gene

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3177792	NM_080628.3(TLDC2):c.75C>G (p.Asn25Lys)	TLDC2 (N25K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177791	NM_080628.3(TLDC2):c.353C>G (p.Ala118Gly)	TLDC2 (A118G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177790	NM_080628.3(TLDC2):c.338G>A (p.Gly113Glu)	TLDC2 (G113E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177789	NM_080628.3(TLDC2):c.245G>T (p.Cys82Phe)	TLDC2 (C82F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177788	NM_080628.3(TLDC2):c.218C>T (p.Thr73Ile)	TLDC2 (T73I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177787	NM_080628.3(TLDC2):c.184C>T (p.Arg62Trp)	TLDC2 (R62W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177786	NM_080628.3(TLDC2):c.131C>G (p.Pro44Arg)	TLDC2 (P44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062406	GRCh37/hg19 20q11.23(chr20:35484010-35540938)x3	SAMHD1, TLDC2 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3048466	NM_015474.4(SAMHD1):c.1747-855_1747-843del	SAMHD1, TLDC2 (R586fs)	Deletion (3 prime UTR variant +2 more)	SAMHD1-related disorder	GLikely benign
Select item 3035616	NM_015474.4(SAMHD1):c.1747-835A>C	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	SAMHD1-related disorder	GLikely benign
Select item 2824699	NM_015474.4(SAMHD1):c.1776A>G (p.Thr592=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2817519	NM_015474.4(SAMHD1):c.1747-15C>T	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2816002	NM_015474.4(SAMHD1):c.1747-8C>G	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2744938	NM_015474.4(SAMHD1):c.1839A>C (p.Ala613=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2696375	NM_015474.4(SAMHD1):c.1747-18del	SAMHD1, TLDC2	Deletion (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GBenign
Select item 2652304	NM_015474.4(SAMHD1):c.1809A>G (p.Ser603=)	TLDC2, SAMHD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2652303	NM_080628.3(TLDC2):c.561C>A (p.Ser187Arg)	TLDC2 (S155R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2652302	NM_080628.3(TLDC2):c.294G>C (p.Glu98Asp)	TLDC2 (E98D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2554647	NM_080628.3(TLDC2):c.272A>T (p.Gln91Leu)	TLDC2 (Q91L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426169	NC_000020.10:g.(?_35521335)_(35526967_?)dup	SAMHD1, TLDC2	Duplication	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 2426168	NC_000020.10:g.(?_35521335)_(35540975_?)dup	SAMHD1, TLDC2	Duplication	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 2405102	NM_080628.3(TLDC2):c.266G>A (p.Ser89Asn)	TLDC2 (S89N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386236	NM_080628.3(TLDC2):c.337G>A (p.Gly113Arg)	TLDC2 (G113R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356214	NM_080628.3(TLDC2):c.287G>A (p.Arg96Gln)	TLDC2 (R96Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2349849	NM_080628.3(TLDC2):c.148A>G (p.Thr50Ala)	TLDC2 (T50A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341167	NM_080628.3(TLDC2):c.143A>G (p.Gln48Arg)	TLDC2 (Q48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302477	NM_080628.3(TLDC2):c.68A>T (p.Glu23Val)	TLDC2 (E23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258022	NM_080628.3(TLDC2):c.182T>C (p.Ile61Thr)	TLDC2 (I61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2164165	NM_015474.4(SAMHD1):c.1876A>G (p.Met626Val)	SAMHD1, TLDC2 (M591V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 2159232	NM_015474.4(SAMHD1):c.1841C>A (p.Ser614Tyr)	SAMHD1, TLDC2 (S579Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 2146169	NM_015474.4(SAMHD1):c.1825C>T (p.Arg609Cys)	SAMHD1, TLDC2 (R609C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 2049337	NM_015474.4(SAMHD1):c.1782A>G (p.Gln594=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2048179	NM_015474.4(SAMHD1):c.1831C>G (p.Arg611Gly)	SAMHD1, TLDC2 (R576G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 2029036	NM_015474.4(SAMHD1):c.1758T>C (p.Val586=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2016910	NM_015474.4(SAMHD1):c.1872C>T (p.Asp624=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2002246	NM_015474.4(SAMHD1):c.1802G>A (p.Ser601Asn)	SAMHD1, TLDC2 (S601N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1982881	NM_015474.4(SAMHD1):c.1877T>A (p.Met626Lys)	SAMHD1, TLDC2 (M626K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1958551	NM_015474.4(SAMHD1):c.1827C>G (p.Arg609=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1615061	NM_015474.4(SAMHD1):c.1747-12_1747-9del	SAMHD1, TLDC2	Deletion (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1607939	NM_015474.4(SAMHD1):c.1767A>G (p.Pro589=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1571400	NM_015474.4(SAMHD1):c.1749T>C (p.Asp583=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1548353	NM_015474.4(SAMHD1):c.1747-17dup	SAMHD1, TLDC2	Duplication (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1545690	NM_015474.4(SAMHD1):c.1747-16T>A	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1488906	NM_015474.4(SAMHD1):c.1785A>T (p.Lys595Asn)	SAMHD1, TLDC2 (K560N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1464496	NM_015474.4(SAMHD1):c.1757T>A (p.Val586Asp)	SAMHD1, TLDC2 (V551D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1456508	NC_000020.10:g.(?_35521335)_(35580046_?)del	SAMHD1, TLDC2	Deletion	Aicardi-Goutieres syndrome 5	GPathogenic
Select item 1448168	NC_000020.10:g.(?_35521335)_(35563612_?)dup	SAMHD1, TLDC2	Duplication	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1398327	NM_015474.4(SAMHD1):c.1780C>T (p.Gln594Ter)	SAMHD1, TLDC2 (Q559* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1341042	GRCh37/hg19 20q11.23(chr20:35335325-35606892)x3	DSN1, NDRG3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1281163	NM_015474.4(SAMHD1):c.1747-190G>A	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1137696	NM_015474.4(SAMHD1):c.1812C>A (p.Val604=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1114447	NM_015474.4(SAMHD1):c.1848C>T (p.Ser616=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1107652	NM_015474.4(SAMHD1):c.1752C>T (p.Gly584=)	TLDC2, SAMHD1	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1092790	NM_015474.4(SAMHD1):c.1860T>C (p.Leu620=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1058962	NM_015474.4(SAMHD1):c.1862T>A (p.Phe621Tyr)	SAMHD1, TLDC2 (F586Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 898844	NM_015474.4(SAMHD1):c.*505T>A	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 898843	NM_015474.4(SAMHD1):c.*648C>T	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 897683	NM_015474.4(SAMHD1):c.*717G>C	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 897682	NM_015474.4(SAMHD1):c.*871G>A	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 897681	NM_015474.4(SAMHD1):c.*882T>C	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 896158	NM_015474.4(SAMHD1):c.*104G>C	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 896157	NM_015474.4(SAMHD1):c.*120C>T	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GBenign/Likely benign
Select item 836506	NM_015474.4(SAMHD1):c.1798G>A (p.Asp600Asn)	SAMHD1, TLDC2 (D600N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 832043	NC_000020.11:g.(?_36892912)_(36898564_?)dup	SAMHD1, TLDC2	Duplication	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 798451	NM_015474.4(SAMHD1):c.1833A>G (p.Arg611=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 782349	NM_080628.3(TLDC2):c.304G>A (p.Gly102Arg)	TLDC2 (G102R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 735488	NM_015474.4(SAMHD1):c.1747-17CT[3]	SAMHD1, TLDC2	Microsatellite (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 660739	NM_015474.4(SAMHD1):c.1753G>A (p.Asp585Asn)	SAMHD1, TLDC2 (D585N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 636815	NM_015474.4(SAMHD1):c.1868A>G (p.Asp623Gly)	SAMHD1, TLDC2 (D623G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 537757	NM_015474.4(SAMHD1):c.1797C>T (p.Asn599=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GBenign
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 394847	GRCh37/hg19 20q11.23(chr20:35412135-35521238)x3	MTCL2, SAMHD1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 338339	NM_015474.4(SAMHD1):c.*45C>T	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant)	Chilblain lupus 2 +1 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 338337	NM_015474.4(SAMHD1):c.*71C>A	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +3 more	GBenign
Select item 338336	NM_015474.4(SAMHD1):c.*95T>C	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Chilblain lupus 2 +1 more	GConflicting classifications of pathogenicity
Select item 338335	NM_015474.4(SAMHD1):c.*240G>A	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Chilblain lupus 2 +1 more	GConflicting classifications of pathogenicity
Select item 338334	NM_015474.4(SAMHD1):c.*288A>G	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Chilblain lupus 2 +1 more	GBenign
Select item 338333	NM_015474.4(SAMHD1):c.*362G>A	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Chilblain lupus 2 +1 more	GUncertain significance
Select item 338332	NM_015474.4(SAMHD1):c.*503A>G	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Chilblain lupus 2 +1 more	GUncertain significance
Select item 338331	NM_015474.4(SAMHD1):c.*536C>T	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Chilblain lupus 2 +1 more	GUncertain significance
Select item 338330	NM_015474.4(SAMHD1):c.*629C>T	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +2 more	GBenign
Select item 338329	NM_015474.4(SAMHD1):c.*711A>C	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Chilblain lupus 2 +1 more	GUncertain significance
Select item 338328	NM_015474.4(SAMHD1):c.*1008C>G	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Chilblain lupus 2 +1 more	GBenign
Select item 290248	NM_015474.4(SAMHD1):c.1832G>A (p.Arg611Gln)	SAMHD1, TLDC2 (R611Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 91