ClinVar for MedGen (Select 483677) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 450

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244198	NC_000013.10:g.(?_51503591)_(51530610_?)del	RNASEH2B	Deletion	Aicardi-Goutieres syndrome 2	GPathogenic
Select item 3244197	NC_000013.10:g.(?_51484213)_(51528141_?)del	RNASEH2B	Deletion	Aicardi-Goutieres syndrome 2	GPathogenic
Select item 3244196	NC_000013.10:g.(?_51484213)_(51530610_?)del	RNASEH2B	Deletion	Aicardi-Goutieres syndrome 2	GPathogenic
Select item 3065534	NM_024570.4(RNASEH2B):c.818A>T (p.Glu273Val)	RNASEH2B (E273V)	Single nucleotide variant (missense variant +1 more)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 3023573	NM_024570.4(RNASEH2B):c.511-18C>A	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 3023562	NM_024570.4(RNASEH2B):c.322-18A>G	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 3022754	NM_024570.4(RNASEH2B):c.823-19C>G	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 3020325	NM_024570.4(RNASEH2B):c.78T>C (p.Asp26=)	RNASEH2B	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 3018842	NM_024570.4(RNASEH2B):c.65-13G>C	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 3017718	NM_024570.4(RNASEH2B):c.616+13T>C	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 3006498	NM_024570.4(RNASEH2B):c.510+13T>C	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 3003339	NM_024570.4(RNASEH2B):c.324G>A (p.Gly108=)	RNASEH2B	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 3002909	NM_024570.4(RNASEH2B):c.617-9_617-8del	RNASEH2B	Deletion (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2990881	NM_024570.4(RNASEH2B):c.617-12del	RNASEH2B	Deletion (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2989553	NM_024570.4(RNASEH2B):c.321+18A>T	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2986366	NM_024570.4(RNASEH2B):c.489A>G (p.Thr163=)	RNASEH2B	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2980744	NM_024570.4(RNASEH2B):c.510+10C>T	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2977557	NM_024570.4(RNASEH2B):c.21C>T (p.Cys7=)	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2956038	NM_024570.4(RNASEH2B):c.64+14C>T	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2912424	NM_024570.4(RNASEH2B):c.705A>G (p.Pro235=)	RNASEH2B	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2910828	NM_024570.4(RNASEH2B):c.321+18A>C	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2904424	NM_024570.4(RNASEH2B):c.741+11G>A	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2902629	NM_024570.4(RNASEH2B):c.375C>T (p.Cys125=)	RNASEH2B	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2902312	NM_024570.4(RNASEH2B):c.617-14_617-12del	RNASEH2B	Deletion (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2902183	NM_024570.4(RNASEH2B):c.511-1G>A	RNASEH2B	Single nucleotide variant (splice acceptor variant)	Aicardi-Goutieres syndrome 2	GLikely pathogenic
Select item 2893566	NM_024570.4(RNASEH2B):c.437-20A>G	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2892616	NM_024570.4(RNASEH2B):c.234A>C (p.Ser78=)	RNASEH2B	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2891161	NM_024570.4(RNASEH2B):c.810G>A (p.Leu270=)	RNASEH2B	Single nucleotide variant (synonymous variant +1 more)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2890746	NM_024570.4(RNASEH2B):c.617-14T>C	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2878162	NM_024570.4(RNASEH2B):c.231A>G (p.Gln77=)	RNASEH2B	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2873225	NM_024570.4(RNASEH2B):c.822+15G>T	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2866503	NM_024570.4(RNASEH2B):c.396T>G (p.Pro132=)	RNASEH2B	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2859921	NM_024570.4(RNASEH2B):c.321+16G>C	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2859739	NM_024570.4(RNASEH2B):c.83C>G (p.Ser28Ter)	RNASEH2B (S28*)	Single nucleotide variant (nonsense)	Aicardi-Goutieres syndrome 2	GPathogenic
Select item 2859732	NM_024570.4(RNASEH2B):c.617-11G>C	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2859691	NM_024570.4(RNASEH2B):c.402T>G (p.Leu134=)	RNASEH2B	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2854767	NM_024570.4(RNASEH2B):c.840T>G (p.Thr280=)	RNASEH2B	Single nucleotide variant (synonymous variant +1 more)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2852003	NM_024570.4(RNASEH2B):c.244+12G>A	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2851427	NM_024570.4(RNASEH2B):c.171A>G (p.Leu57=)	RNASEH2B	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2848711	NM_024570.4(RNASEH2B):c.222T>C (p.Phe74=)	RNASEH2B	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2847652	NM_024570.4(RNASEH2B):c.698+16C>A	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2846221	NM_024570.4(RNASEH2B):c.322-4del	RNASEH2B	Deletion (intron variant)	Aicardi-Goutieres syndrome 2	GBenign
Select item 2843838	NM_024570.4(RNASEH2B):c.858G>A (p.Leu286=)	RNASEH2B	Single nucleotide variant (synonymous variant +1 more)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2843458	NM_024570.4(RNASEH2B):c.616+10G>A	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2842936	NM_024570.4(RNASEH2B):c.336C>T (p.Pro112=)	RNASEH2B	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2842511	NM_024570.4(RNASEH2B):c.69T>A (p.Tyr23Ter)	RNASEH2B (Y23*)	Single nucleotide variant (nonsense)	Aicardi-Goutieres syndrome 2	GPathogenic
Select item 2841406	NM_024570.4(RNASEH2B):c.65-1G>A	RNASEH2B	Single nucleotide variant (splice acceptor variant)	Aicardi-Goutieres syndrome 2	GLikely pathogenic
Select item 2841330	NM_024570.4(RNASEH2B):c.282A>G (p.Leu94=)	RNASEH2B	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2840120	NM_024570.4(RNASEH2B):c.245-2A>G	RNASEH2B	Single nucleotide variant (splice acceptor variant)	Aicardi-Goutieres syndrome 2	GLikely pathogenic
Select item 2836977	NM_024570.4(RNASEH2B):c.742-19C>T	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2834413	NM_024570.4(RNASEH2B):c.616+9dup	RNASEH2B	Duplication (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2834308	NM_024570.4(RNASEH2B):c.321+15C>G	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2832181	NM_024570.4(RNASEH2B):c.12C>G (p.Gly4=)	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2831165	NM_024570.4(RNASEH2B):c.823-9C>A	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2831164	NM_024570.4(RNASEH2B):c.823-13T>C	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2827393	NM_024570.4(RNASEH2B):c.318G>A (p.Lys106=)	RNASEH2B	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2826645	NM_024570.4(RNASEH2B):c.511-19C>A	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2825743	NM_024570.4(RNASEH2B):c.702T>C (p.Leu234=)	RNASEH2B	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2825544	NM_024570.4(RNASEH2B):c.721T>C (p.Leu241=)	RNASEH2B	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2825023	NM_024570.4(RNASEH2B):c.420T>C (p.His140=)	RNASEH2B	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2822820	NM_024570.4(RNASEH2B):c.192A>G (p.Lys64=)	RNASEH2B	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2822602	NM_024570.4(RNASEH2B):c.322-14A>G	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2820897	NM_024570.4(RNASEH2B):c.509dup (p.Val171fs)	RNASEH2B (V171fs)	Duplication (frameshift variant)	Aicardi-Goutieres syndrome 2	GPathogenic
Select item 2820415	NM_024570.4(RNASEH2B):c.294C>A (p.Leu98=)	RNASEH2B	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2819941	NM_024570.4(RNASEH2B):c.856T>C (p.Leu286=)	RNASEH2B	Single nucleotide variant (synonymous variant +1 more)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2819722	NM_024570.4(RNASEH2B):c.64+11G>T	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2816724	NM_024570.4(RNASEH2B):c.511-4A>T	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2815274	NM_024570.4(RNASEH2B):c.64+16C>G	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2812531	NM_024570.4(RNASEH2B):c.15G>T (p.Val5=)	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2812322	NM_024570.4(RNASEH2B):c.510+17G>A	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2808762	NM_024570.4(RNASEH2B):c.178C>T (p.Leu60=)	RNASEH2B	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2808351	NM_024570.4(RNASEH2B):c.322-5T>C	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2807023	NM_024570.4(RNASEH2B):c.294C>T (p.Leu98=)	RNASEH2B	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2804618	NM_024570.4(RNASEH2B):c.321+11A>G	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2803413	NM_024570.4(RNASEH2B):c.741+8G>A	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2803394	NM_024570.4(RNASEH2B):c.822+15G>A	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2802547	NM_024570.4(RNASEH2B):c.137-8C>T	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2797126	NM_024570.4(RNASEH2B):c.207A>G (p.Lys69=)	RNASEH2B	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2791991	NM_024570.4(RNASEH2B):c.822+8G>A	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2786933	NM_024570.4(RNASEH2B):c.245-12T>C	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2781930	NM_024570.4(RNASEH2B):c.321+12G>T	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2780167	NM_024570.4(RNASEH2B):c.813G>A (p.Lys271=)	RNASEH2B	Single nucleotide variant (synonymous variant +1 more)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2778647	NM_024570.4(RNASEH2B):c.579A>G (p.Ala193=)	RNASEH2B	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2772531	NM_024570.4(RNASEH2B):c.245-7T>C	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2772352	NM_024570.4(RNASEH2B):c.245-2A>C	RNASEH2B	Single nucleotide variant (splice acceptor variant)	Aicardi-Goutieres syndrome 2	GLikely pathogenic
Select item 2766696	NM_024570.4(RNASEH2B):c.789T>C (p.Thr263=)	RNASEH2B	Single nucleotide variant (synonymous variant +1 more)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2764314	NM_024570.4(RNASEH2B):c.437-5T>C	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2764119	NM_024570.4(RNASEH2B):c.648del (p.Ser217fs)	RNASEH2B (S217fs)	Deletion (frameshift variant)	Aicardi-Goutieres syndrome 2	GPathogenic
Select item 2761408	NM_024570.4(RNASEH2B):c.822+18T>C	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2759586	NM_024570.4(RNASEH2B):c.510+12C>G	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2754511	NM_024570.4(RNASEH2B):c.322-10G>A	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2753759	NM_024570.4(RNASEH2B):c.823-6del	RNASEH2B	Deletion (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2752788	NM_024570.4(RNASEH2B):c.6C>G (p.Ala2=)	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2750103	NM_024570.4(RNASEH2B):c.617-2A>G	RNASEH2B	Single nucleotide variant (splice acceptor variant)	Aicardi-Goutieres syndrome 2	GLikely pathogenic
Select item 2748474	NM_024570.4(RNASEH2B):c.735A>G (p.Pro245=)	RNASEH2B	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2748171	NM_024570.4(RNASEH2B):c.823-5A>G	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2747571	NM_024570.4(RNASEH2B):c.699-6T>C	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2747042	NM_024570.4(RNASEH2B):c.645G>A (p.Leu215=)	RNASEH2B	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2745234	NM_024570.4(RNASEH2B):c.64+13G>T	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2744727	NM_024570.4(RNASEH2B):c.136+10C>G	RNASEH2B	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign

<< First< Prev

Page of 5