10535[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 1282221	NC_000019.10:g.12806286G>C	LOC117038795, RNASEH2A	Single nucleotide variant	not provided	GBenign
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 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 328288	NM_006397.3(RNASEH2A):c.-16T>C	LOC117038795, RNASEH2A	Single nucleotide variant (5 prime UTR variant)	Aicardi-Goutieres syndrome 4 +2 more	GBenign
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 2170239	NM_006397.3(RNASEH2A):c.4G>T (p.Asp2Tyr)	LOC117038795, RNASEH2A (D2Y)	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 2170240	NM_006397.3(RNASEH2A):c.8T>C (p.Leu3Pro)	LOC117038795, RNASEH2A (L3P)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
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 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 1115756	NM_006397.3(RNASEH2A):c.16C>T (p.Leu6=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous 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 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 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 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 1433296	NM_006397.3(RNASEH2A):c.32C>T (p.Thr11Ile)	RNASEH2A, LOC117038795 (T11I)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	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 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 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 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 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 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 745302	NM_006397.3(RNASEH2A):c.46C>T (p.Leu16=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	RNASEH2A-related disorder +1 more	GLikely benign
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 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 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 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 66067	NM_006397.3(RNASEH2A):c.69G>A (p.Val23=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi Goutieres syndrome +2 more	GPathogenic/Likely pathogenic
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 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 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 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 66065	NM_006397.3(RNASEH2A):c.75C>T (p.Arg25=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GPathogenic
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 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 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 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 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 2878648	NM_006397.3(RNASEH2A):c.87C>A (p.Cys29Ter)	LOC117038795, RNASEH2A (C29*)	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 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 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 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 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 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 4641	NM_006397.3(RNASEH2A):c.109G>A (p.Gly37Ser)	LOC117038795, RNASEH2A	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GPathogenic
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 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 841862	NM_006397.3(RNASEH2A):c.115_116delinsCA (p.Gly39His)	LOC117038795, RNASEH2A (G39H)	Indel (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 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 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 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 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 964856	NM_006397.3(RNASEH2A):c.125delinsCTAG (p.Leu42delinsProArg)	LOC117038795, RNASEH2A	Indel (inframe_indel)	Aicardi-Goutieres syndrome 4	GUncertain significance
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 958976	NM_006397.3(RNASEH2A):c.127G>C (p.Gly43Arg)	LOC117038795, RNASEH2A (G43R)	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 2862443	NM_006397.3(RNASEH2A):c.127+7C>T	LOC117038795, RNASEH2A	Single nucleotide variant (intron 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 2822475	NM_006397.3(RNASEH2A):c.127+9C>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 2911528	NM_006397.3(RNASEH2A):c.127+12G>T	LOC117038795, RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
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 2829738	NM_006397.3(RNASEH2A):c.127+15C>T	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 1605233	NM_006397.3(RNASEH2A):c.127+17A>G	LOC117038795, RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 1294926	NM_006397.3(RNASEH2A):c.127+72T>C	RNASEH2A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1238018	NM_006397.3(RNASEH2A):c.128-61A>T	RNASEH2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2697080	NM_006397.3(RNASEH2A):c.128-20del	RNASEH2A	Deletion (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2179188	NM_006397.3(RNASEH2A):c.128-20C>T	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 1899236	NM_006397.3(RNASEH2A):c.128-14C>A	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2831410	NM_006397.3(RNASEH2A):c.128-13C>A	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 1610562	NM_006397.3(RNASEH2A):c.128-13C>T	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2728394	NM_006397.3(RNASEH2A):c.128-12C>T	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 1576205	NM_006397.3(RNASEH2A):c.128-11C>G	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2783602	NM_006397.3(RNASEH2A):c.128-4C>A	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 2119514	NM_006397.3(RNASEH2A):c.128-4C>G	RNASEH2A	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 1038219	NM_006397.3(RNASEH2A):c.128G>T (p.Gly43Val)	RNASEH2A (G43V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 2853903	NM_006397.3(RNASEH2A):c.132C>A (p.Pro44=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 1535335	NM_006397.3(RNASEH2A):c.132C>T (p.Pro44=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 964786	NM_006397.3(RNASEH2A):c.135G>A (p.Met45Ile)	RNASEH2A (M45I)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 2871449	NM_006397.3(RNASEH2A):c.138C>T (p.Val46=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 1642119	NM_006397.3(RNASEH2A):c.141C>T (p.Tyr47=)	RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4	GLikely benign
Select item 951485	NM_006397.3(RNASEH2A):c.142G>A (p.Ala48Thr)	RNASEH2A (A48T)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 858132	NM_006397.3(RNASEH2A):c.143C>G (p.Ala48Gly)	RNASEH2A (A48G)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 1413126	NM_006397.3(RNASEH2A):c.146_148dup (p.Ile49_Cys50insPhe)	RNASEH2A	Duplication (inframe_insertion)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 2905764	NM_006397.3(RNASEH2A):c.160del (p.Leu54fs)	RNASEH2A (L54fs)	Deletion (frameshift variant)	Aicardi-Goutieres syndrome 4	GPathogenic
Select item 861574	NM_006397.3(RNASEH2A):c.160C>G (p.Leu54Val)	RNASEH2A (L54V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 965077	NM_006397.3(RNASEH2A):c.166C>T (p.Arg56Cys)	RNASEH2A (R56C)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 4	GUncertain significance

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