Related gene-specific medical variations for Gene (Select 10535) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067855	NM_006397.3(RNASEH2A):c.704G>C (p.Arg235Pro)	RNASEH2A (R235P)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GLikely pathogenic
Select item 2911528	NM_006397.3(RNASEH2A):c.127+12G>T	LOC117038795, RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2878648	NM_006397.3(RNASEH2A):c.87C>A (p.Cys29Ter)	LOC117038795, RNASEH2A (C29*)	Single nucleotide variant (nonsense)	Aicardi-Goutieres syndrome 4	GPathogenic
Select item 2862443	NM_006397.3(RNASEH2A):c.127+7C>T	LOC117038795, RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2855360	NM_006397.3(RNASEH2A):c.127+10T>A	LOC117038795, RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2847567	NM_006397.3(RNASEH2A):c.18G>A (p.Leu6=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2829738	NM_006397.3(RNASEH2A):c.127+15C>T	LOC117038795, RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2825305	NM_006397.3(RNASEH2A):c.123G>C (p.Val41=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2822475	NM_006397.3(RNASEH2A):c.127+9C>T	LOC117038795, RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2803406	NM_006397.3(RNASEH2A):c.96C>A (p.Gly32=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2792378	NM_006397.3(RNASEH2A):c.127+8C>T	LOC117038795, RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2786566	NM_006397.3(RNASEH2A):c.13G>T (p.Glu5Ter)	LOC117038795, RNASEH2A (E5*)	Single nucleotide variant (nonsense)	Aicardi-Goutieres syndrome 4	GPathogenic
Select item 2780915	NM_006397.3(RNASEH2A):c.87C>T (p.Cys29=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2606885	NM_006397.3(RNASEH2A):c.76A>G (p.Lys26Glu)	LOC117038795, RNASEH2A (K26E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2170240	NM_006397.3(RNASEH2A):c.8T>C (p.Leu3Pro)	RNASEH2A, LOC117038795 (L3P)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 2170239	NM_006397.3(RNASEH2A):c.4G>T (p.Asp2Tyr)	RNASEH2A, LOC117038795 (D2Y)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 2138239	NM_006397.3(RNASEH2A):c.127+1G>C	LOC117038795, RNASEH2A	Single nucleotide variant (splice donor variant)	Aicardi-Goutieres syndrome 4	GLikely pathogenic
Select item 2113910	NM_006397.3(RNASEH2A):c.54G>T (p.Ser18=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2109791	NM_006397.3(RNASEH2A):c.94G>A (p.Gly32Ser)	LOC117038795, RNASEH2A (G32S)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 2088633	NM_006397.3(RNASEH2A):c.25G>A (p.Asp9Asn)	LOC117038795, RNASEH2A (D9N)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 2086212	NM_006397.3(RNASEH2A):c.102T>C (p.Asp34=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2059763	NM_006397.3(RNASEH2A):c.21G>A (p.Glu7=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2053991	NM_006397.3(RNASEH2A):c.80A>G (p.Glu27Gly)	LOC117038795, RNASEH2A (E27G)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 2042655	NM_006397.3(RNASEH2A):c.73C>G (p.Arg25Gly)	LOC117038795, RNASEH2A (R25G)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 2017900	NM_006397.3(RNASEH2A):c.81G>A (p.Glu27=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 1975524	NM_006397.3(RNASEH2A):c.15G>A (p.Glu5=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 1949674	NM_006397.3(RNASEH2A):c.45C>A (p.Arg15=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 1924566	NM_006397.3(RNASEH2A):c.1A>G (p.Met1Val)	LOC117038795, RNASEH2A (M1V)	Single nucleotide variant (missense variant +1 more)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 1901832	NM_006397.3(RNASEH2A):c.120C>T (p.Pro40=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 1662764	NM_006397.3(RNASEH2A):c.63C>T (p.Pro21=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 1605233	NM_006397.3(RNASEH2A):c.127+17A>G	LOC117038795, RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 1602964	NM_006397.3(RNASEH2A):c.127+16C>T	LOC117038795, RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 1493799	NM_006397.3(RNASEH2A):c.126G>C (p.Leu42=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 1488430	NM_006397.3(RNASEH2A):c.113G>A (p.Arg38Lys)	LOC117038795, RNASEH2A (R38K)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 1470086	NM_006397.3(RNASEH2A):c.34G>A (p.Gly12Ser)	LOC117038795, RNASEH2A (G12S)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 1440767	NM_006397.3(RNASEH2A):c.65C>T (p.Ala22Val)	LOC117038795, RNASEH2A (A22V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 1436236	NM_006397.3(RNASEH2A):c.38G>T (p.Arg13Leu)	LOC117038795, RNASEH2A (R13L)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 1433296	NM_006397.3(RNASEH2A):c.32C>T (p.Thr11Ile)	LOC117038795, RNASEH2A (T11I)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 1407385	NM_006397.3(RNASEH2A):c.110G>A (p.Gly37Asp)	LOC117038795, RNASEH2A (G37D)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 1393434	NM_006397.3(RNASEH2A):c.5A>G (p.Asp2Gly)	LOC117038795, RNASEH2A (D2G)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 1372769	NM_006397.3(RNASEH2A):c.74G>A (p.Arg25His)	LOC117038795, RNASEH2A (R25H)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 1362113	NM_006397.3(RNASEH2A):c.55C>G (p.Pro19Ala)	LOC117038795, RNASEH2A (P19A)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 1357272	NM_006397.3(RNASEH2A):c.119C>T (p.Pro40Leu)	LOC117038795, RNASEH2A (P40L)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 1355542	NM_006397.3(RNASEH2A):c.125T>C (p.Leu42Pro)	LOC117038795, RNASEH2A (L42P)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 1252081	NM_006397.3(RNASEH2A):c.622T>C (p.Ser208Pro)	RNASEH2A (S208P)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 1137784	NM_006397.3(RNASEH2A):c.127+14G>T	LOC117038795, RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 1115756	NM_006397.3(RNASEH2A):c.16C>T (p.Leu6=)	RNASEH2A, LOC117038795	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 1110544	NM_006397.3(RNASEH2A):c.120C>G (p.Pro40=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 1088842	NM_006397.3(RNASEH2A):c.120C>A (p.Pro40=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 964856	NM_006397.3(RNASEH2A):c.125delinsCTAG (p.Leu42delinsProArg)	LOC117038795, RNASEH2A	Indel (inframe_indel)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 964199	NM_006397.3(RNASEH2A):c.101A>G (p.Asp34Gly)	LOC117038795, RNASEH2A (D34G)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 962531	NM_006397.3(RNASEH2A):c.44G>A (p.Arg15His)	LOC117038795, RNASEH2A (R15H)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 958976	NM_006397.3(RNASEH2A):c.127G>C (p.Gly43Arg)	RNASEH2A, LOC117038795 (G43R)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 889058	NM_006397.3(RNASEH2A):c.-69G>A	RNASEH2A, LOC117038795	Single nucleotide variant (5 prime UTR variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 842112	NM_006397.3(RNASEH2A):c.73C>T (p.Arg25Cys)	LOC117038795, RNASEH2A (R25C)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 841862	NM_006397.3(RNASEH2A):c.115_116delinsCA (p.Gly39His)	LOC117038795, RNASEH2A (G39H)	Indel (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 763722	NM_006397.3(RNASEH2A):c.108G>A (p.Ala36=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 745302	NM_006397.3(RNASEH2A):c.46C>T (p.Leu16=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	RNASEH2A-related condition +1 more	GLikely benign
Select item 593316	NM_006397.3(RNASEH2A):c.79G>C (p.Glu27Gln)	LOC117038795, RNASEH2A (E27Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 579710	NM_006397.3(RNASEH2A):c.83C>A (p.Pro28His)	LOC117038795, RNASEH2A (P28H)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 570653	NM_006397.3(RNASEH2A):c.74G>T (p.Arg25Leu)	LOC117038795, RNASEH2A (R25L)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 548458	NM_006397.3(RNASEH2A):c.746C>A (p.Ala249Glu)	RNASEH2A (A249E)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 532919	NM_006397.3(RNASEH2A):c.36C>T (p.Gly12=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GConflicting classifications of pathogenicity
Select item 532916	NM_006397.3(RNASEH2A):c.29A>G (p.Asn10Ser)	LOC117038795, RNASEH2A (N10S)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 328288	NM_006397.3(RNASEH2A):c.-16T>C	LOC117038795, RNASEH2A	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
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 259971	NM_006397.3(RNASEH2A):c.33A>G (p.Thr11=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 66067	NM_006397.3(RNASEH2A):c.69G>A (p.Val23=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 66065	NM_006397.3(RNASEH2A):c.75C>T (p.Arg25=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GPathogenic
Select item 4641	NM_006397.3(RNASEH2A):c.109G>A (p.Gly37Ser)	LOC117038795, RNASEH2A	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 71