ClinVar for MedGen (Select 97953) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366699	NC_000013.10:g.(51519669_51522122)_(51523642_51528040)del	RNASEH2B	Deletion	Aicardi Goutieres syndrome	GPathogenic
Select item 2691643	NM_024570.4(RNASEH2B):c.737C>A (p.Ser246Ter)	RNASEH2B (S246*)	Single nucleotide variant (nonsense)	Aicardi Goutieres syndrome	GPathogenic
Select item 2581722	NM_022168.4(IFIH1):c.454-1G>A	IFIH1	Single nucleotide variant (splice acceptor variant)	Aicardi Goutieres syndrome	GLikely pathogenic
Select item 2501215	NM_015474.4(SAMHD1):c.1322_1325del (p.Ala441fs)	SAMHD1 (A441fs)	Deletion (frameshift variant)	Aicardi Goutieres syndrome	GLikely pathogenic
Select item 2501214	NM_015474.4(SAMHD1):c.869G>A (p.Arg290His)	SAMHD1 (R290H)	Single nucleotide variant (missense variant)	Aicardi Goutieres syndrome	GLikely pathogenic
Select item 1704574	NM_015474.4(SAMHD1):c.1436del (p.Glu479fs)	SAMHD1 (E479fs)	Deletion (frameshift variant)	Aicardi-Goutieres syndrome 5 +1 more	GPathogenic/Likely pathogenic
Select item 1698506	NC_000020.10:g.(35533907_35539620)_(35547923_35555584)dup	SAMHD1	Duplication	Aicardi Goutieres syndrome	GLikely pathogenic
Select item 1677234	NC_000020.10:g.(35575208_35579838)_(35580247_?)del	SAMHD1	Deletion	Aicardi Goutieres syndrome	GPathogenic
Select item 1456507	NM_024570.4(RNASEH2B):c.331C>T (p.Gln111Ter)	RNASEH2B (Q111*)	Single nucleotide variant (nonsense)	Aicardi Goutieres syndrome +1 more	GPathogenic
Select item 1140289	NM_015474.4(SAMHD1):c.114C>G (p.Leu38=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1140009	NM_015474.4(SAMHD1):c.18C>T (p.Ser6=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1097682	NM_015474.4(SAMHD1):c.396C>T (p.Leu132=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1066893	NM_015474.4(SAMHD1):c.509+1G>A	SAMHD1	Single nucleotide variant (splice donor variant)	Aicardi-Goutieres syndrome 5	GLikely pathogenic
Select item 1063202	NM_015474.4(SAMHD1):c.1565G>A (p.Cys522Tyr)	SAMHD1 (C522Y)	Single nucleotide variant (missense variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1046953	NM_015474.4(SAMHD1):c.254G>A (p.Arg85His)	SAMHD1 (R85H)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1045658	NM_015474.4(SAMHD1):c.1384C>A (p.Pro462Thr)	SAMHD1 (P462T)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1024971	NM_015474.4(SAMHD1):c.43T>G (p.Cys15Gly)	SAMHD1 (C15G)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1018902	NM_015474.4(SAMHD1):c.1693G>A (p.Ala565Thr)	SAMHD1 (A530T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1017517	NM_015474.4(SAMHD1):c.1096C>T (p.Arg366Cys)	SAMHD1 (R366C)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1008569	NM_015474.4(SAMHD1):c.680C>T (p.Pro227Leu)	SAMHD1 (P227L)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 991698	NM_015474.4(SAMHD1):c.792T>C (p.Asp264=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi Goutieres syndrome	GUncertain significance
Select item 991697	NM_015474.4(SAMHD1):c.1725C>G (p.Asp575Glu)	SAMHD1 (D540E +1 more)	Single nucleotide variant (missense variant)	Aicardi Goutieres syndrome	GUncertain significance
Select item 972549	NM_015474.4(SAMHD1):c.1471G>A (p.Val491Met)	SAMHD1 (V491M)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 972110	NM_015474.4(SAMHD1):c.226G>T (p.Ala76Ser)	SAMHD1 (A76S)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 969744	NM_015474.4(SAMHD1):c.454G>C (p.Gly152Arg)	SAMHD1 (G152R)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 966467	NM_015474.4(SAMHD1):c.998G>A (p.Arg333His)	SAMHD1 (R333H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 958355	NM_015474.4(SAMHD1):c.1222C>T (p.Arg408Cys)	SAMHD1 (R408C)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 958229	NM_015474.4(SAMHD1):c.11C>T (p.Ala4Val)	SAMHD1 (A4V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 949004	NM_015474.4(SAMHD1):c.290G>A (p.Arg97Lys)	SAMHD1 (R97K)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 946301	NM_015474.4(SAMHD1):c.546G>A (p.Leu182=)	SAMHD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 943162	NM_015474.4(SAMHD1):c.696+5G>A	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 935415	NM_015474.4(SAMHD1):c.5_7dup (p.Gln2dup)	SAMHD1	Duplication (inframe_insertion +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 895946	NM_015474.4(SAMHD1):c.1325G>A (p.Arg442Gln)	SAMHD1 (R442Q)	Single nucleotide variant (missense variant)	Chilblain lupus 2 +1 more	GConflicting classifications of pathogenicity
Select item 853447	NM_015474.4(SAMHD1):c.901G>C (p.Val301Leu)	SAMHD1 (V301L)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 850982	NM_015474.4(SAMHD1):c.400C>G (p.Arg134Gly)	SAMHD1 (R134G)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 845094	NM_015474.4(SAMHD1):c.1081G>A (p.Asp361Asn)	SAMHD1 (D361N)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 844951	NM_015474.4(SAMHD1):c.562G>C (p.Glu188Gln)	SAMHD1 (E188Q)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 835265	NM_015474.4(SAMHD1):c.8G>T (p.Arg3Leu)	SAMHD1 (R3L)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 785741	NM_015474.4(SAMHD1):c.1320C>T (p.Asp440=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5 +1 more	GLikely benign
Select item 780605	NM_015474.4(SAMHD1):c.275+8T>A	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GBenign
Select item 754039	NM_015474.4(SAMHD1):c.93C>T (p.Asp31=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 742508	NM_015474.4(SAMHD1):c.462C>T (p.Tyr154=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 741733	NM_015474.4(SAMHD1):c.1743G>A (p.Pro581=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5 +1 more	GLikely benign
Select item 739833	NM_015474.4(SAMHD1):c.768A>G (p.Gln256=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 738990	NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=)	SAMHD1	Single nucleotide variant (synonymous variant)	Chilblain lupus 2 +1 more	GConflicting classifications of pathogenicity
Select item 715327	NM_015474.4(SAMHD1):c.342A>G (p.Thr114=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 708903	NM_015474.4(SAMHD1):c.208+8C>T	SAMHD1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 663101	NM_015474.4(SAMHD1):c.1174A>G (p.Lys392Glu)	SAMHD1 (K392E)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 662872	NM_015474.4(SAMHD1):c.1453C>T (p.Pro485Ser)	SAMHD1 (P485S)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 661658	NM_015474.4(SAMHD1):c.510G>C (p.Gly170=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
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 659887	NM_015474.4(SAMHD1):c.1476del (p.Lys492fs)	SAMHD1 (K492fs)	Deletion (frameshift variant)	Aicardi-Goutieres syndrome 5 +1 more	GPathogenic/Likely pathogenic
Select item 654950	NM_015474.4(SAMHD1):c.610C>T (p.Leu204Phe)	SAMHD1 (L204F)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 654205	NM_015474.4(SAMHD1):c.541G>A (p.Ala181Thr)	SAMHD1 (A181T)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 644122	NM_015474.4(SAMHD1):c.733A>G (p.Ile245Val)	SAMHD1 (I245V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 641111	NM_024570.4(RNASEH2B):c.179T>G (p.Leu60Arg)	RNASEH2B (L60R)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2 +1 more	GLikely pathogenic
Select item 639600	NM_015474.4(SAMHD1):c.831A>T (p.Glu277Asp)	SAMHD1 (E277D)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 636683	NM_015474.4(SAMHD1):c.1042C>T (p.Arg348Cys)	SAMHD1 (R348C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 632305	NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)	RNASEH2A (T70fs)	Duplication (frameshift variant)	Aicardi Goutieres syndrome +2 more	GConflicting classifications of pathogenicity
Select item 583260	NM_015474.4(SAMHD1):c.696G>T (p.Thr232=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 582618	NM_015474.4(SAMHD1):c.1445G>A (p.Ser482Asn)	SAMHD1 (S482N)	Single nucleotide variant (missense variant)	Chilblain lupus 2 +2 more	GConflicting classifications of pathogenicity
Select item 578909	NM_015474.4(SAMHD1):c.364A>G (p.Ile122Val)	SAMHD1 (I122V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 577316	NM_015474.4(SAMHD1):c.1590C>G (p.Ile530Met)	SAMHD1 (I530M)	Single nucleotide variant (missense variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 571731	NM_015474.4(SAMHD1):c.1321G>C (p.Ala441Pro)	SAMHD1 (A441P)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 546088	NM_015474.4(SAMHD1):c.1343T>C (p.Ile448Thr)	SAMHD1 (I448T)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5 +2 more	GPathogenic/Likely pathogenic
Select item 451011	NM_015474.4(SAMHD1):c.464A>G (p.Tyr155Cys)	SAMHD1 (Y155C)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 448231	NM_015474.4(SAMHD1):c.237T>C (p.Pro79=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5 +2 more	GBenign/Likely benign
Select item 448169	NM_024570.4(RNASEH2B):c.698+1G>A	RNASEH2B	Single nucleotide variant (splice donor variant)	Aicardi Goutieres syndrome +2 more	GLikely pathogenic
Select item 445524	NM_015474.4(SAMHD1):c.494T>C (p.Phe165Ser)	SAMHD1 (F165S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 419543	NM_032193.4(RNASEH2C):c.451C>T (p.Pro151Ser)	RNASEH2C (P151S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 345780	NM_033629.6(TREX1):c.*37T>C	TREX1, ATRIP +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GBenign
Select item 345771	NM_033629.6(TREX1):c.-50CTGC[4]	ATRIP, ATRIP-TREX1 +1 more	Microsatellite (non-coding transcript variant +3 more)	Aicardi Goutieres syndrome +2 more	GUncertain significance
Select item 345769	NM_033629.6(TREX1):c.-68T>C	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	not provided +2 more	GBenign
Select item 345767	NM_033629.4(TREX1):c.-117C>T	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +1 more	GLikely benign
Select item 345766	NM_033629.4(TREX1):c.-127G>C	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +1 more	GUncertain significance
Select item 345765	NM_033629.4(TREX1):c.-199A>G	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +1 more	GUncertain significance
Select item 345764	NM_033629.4(TREX1):c.-206G>T	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +1 more	GUncertain significance
Select item 345763	NM_033629.4(TREX1):c.-287C>T	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +1 more	GUncertain significance
Select item 345762	NM_033629.4(TREX1):c.-510delC	ATRIP, ATRIP-TREX1 +1 more	Deletion (non-coding transcript variant +1 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +1 more	GLikely benign
Select item 345761	NM_033629.4(TREX1):c.-515T>C	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +1 more	GLikely benign
Select item 338350	NM_015474.4(SAMHD1):c.77C>T (p.Pro26Leu)	SAMHD1 (P26L)	Single nucleotide variant (missense variant)	not provided +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)	Chilblain lupus 2 +1 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 +4 more	GConflicting classifications of pathogenicity
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 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 312322	NM_001142279.2(RNASEH2B):c.-313C>G	LOC130009809, RNASEH2B +1 more	Single nucleotide variant (5 prime UTR variant)	Aicardi Goutieres syndrome	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 305362	NM_032193.4(RNASEH2C):c.348+6C>T	RNASEH2C	Single nucleotide variant (intron variant)	Aicardi Goutieres syndrome +2 more	GUncertain significance
Select item 305355	NM_032193.4(RNASEH2C):c.45_46insG	RNASEH2C	Insertion (3 prime UTR variant)	Aicardi Goutieres syndrome	GUncertain significance
Select item 305339	NM_032193.4(RNASEH2C):c.*948dup	KAT5, RNASEH2C	Duplication (3 prime UTR variant +1 more)	Aicardi Goutieres syndrome +2 more	GBenign/Likely benign
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 281198	NM_024570.4(RNASEH2B):c.925dup (p.Ile309fs)	RNASEH2B (I309fs)	Duplication (frameshift variant +1 more)	not specified +3 more	GBenign/Likely benign
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)	Aicardi Goutieres syndrome +5 more	GBenign
Select item 126397	NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp)	RNASEH2A	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 126393	NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)	ATRIP, ATRIP-TREX1 +1 more	Deletion (non-coding transcript variant +2 more)	not provided +5 more	GPathogenic/Likely pathogenic
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 1 +5 more	GConflicting classifications of pathogenicity
Select item 96241	NM_033629.6(TREX1):c.531= (p.Tyr177=)	TREX1, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +5 more	GBenign
Select item 81627	NM_015474.4(SAMHD1):c.1651C>T (p.Arg551Ter)	SAMHD1 (R551* +1 more)	Single nucleotide variant (nonsense)	Aicardi Goutieres syndrome +1 more	GPathogenic/Likely pathogenic
Select item 66068	NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp)	RNASEH2A (R186W)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4 +1 more	GPathogenic/Likely pathogenic

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