ClinVar for Gene (Select 6773) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 470

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	SDR9C7, TSPAN31 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 3171112	NM_005419.4(STAT2):c.673A>T (p.Thr225Ser)	STAT2 (T221S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171111	NM_005419.4(STAT2):c.289T>A (p.Phe97Ile)	STAT2 (F97I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3171110	NM_005419.4(STAT2):c.1867G>A (p.Val623Met)	STAT2 (V590M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3022271	NM_005419.4(STAT2):c.1862-19T>C	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 3021527	NM_005419.4(STAT2):c.534G>A (p.Lys178=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 3016633	NM_005419.4(STAT2):c.2445C>T (p.Ile815=)	STAT2	Single nucleotide variant (synonymous variant +1 more)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 3016029	NM_005419.4(STAT2):c.1762C>A (p.Arg588=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 3015743	NM_005419.4(STAT2):c.897A>G (p.Leu299=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 3008991	NM_005419.4(STAT2):c.678C>T (p.Thr226=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 3008650	NM_005419.4(STAT2):c.1647C>A (p.Gly549=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 3006821	NM_005419.4(STAT2):c.2316A>G (p.Gln772=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2998661	NM_005419.4(STAT2):c.1441-13C>T	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2997631	NM_005419.4(STAT2):c.942-17C>T	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2995334	NM_005419.4(STAT2):c.941+3C>A	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2989908	NM_005419.4(STAT2):c.1656A>T (p.Pro552=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2989666	NM_005419.4(STAT2):c.132-12C>G	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2983963	NM_005419.4(STAT2):c.2045-15A>G	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2964190	NM_005419.4(STAT2):c.279C>T (p.Asp93=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2919676	NM_005419.4(STAT2):c.1577-13A>G	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2915479	NM_005419.4(STAT2):c.1114G>A (p.Gly372Ser)	STAT2 (G368S +1 more)	Single nucleotide variant (missense variant +1 more)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2914929	NM_005419.4(STAT2):c.2181G>A (p.Leu727=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2909489	NM_005419.4(STAT2):c.684C>T (p.Ile228=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2905244	NM_005419.4(STAT2):c.2102+9T>C	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2901325	NM_005419.4(STAT2):c.1341+14G>A	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2899235	NM_005419.4(STAT2):c.1210-5C>T	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2887568	NM_005419.4(STAT2):c.2103-20G>T	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2886618	NM_005419.4(STAT2):c.1872C>T (p.Leu624=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2883035	NM_005419.4(STAT2):c.1724+17C>T	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2882355	NM_005419.4(STAT2):c.1895C>T (p.Thr632Met)	STAT2 (T618M +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2876331	NM_005419.4(STAT2):c.2019T>C (p.Ala673=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2870033	NM_005419.4(STAT2):c.1095-19dup	STAT2	Duplication (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GBenign
Select item 2850322	NM_005419.4(STAT2):c.755A>C (p.Asp252Ala)	STAT2 (D252A +1 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2844977	NM_005419.4(STAT2):c.2208C>T (p.Asp736=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2832802	NM_005419.4(STAT2):c.2197del (p.Leu733fs)	STAT2 (L722fs +5 more)	Deletion (frameshift variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GPathogenic
Select item 2831685	NM_005419.4(STAT2):c.1180C>T (p.Gln394Ter)	STAT2 (Q383* +3 more)	Single nucleotide variant (nonsense)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GPathogenic
Select item 2831047	NM_005419.4(STAT2):c.2102+7T>G	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2824476	NM_005419.4(STAT2):c.936C>G (p.Leu312=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2818924	NM_005419.4(STAT2):c.243G>A (p.Leu81=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2807858	NM_005419.4(STAT2):c.2265G>A (p.Leu755=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2802910	NM_005419.4(STAT2):c.1034+10C>G	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2801881	NM_005419.4(STAT2):c.795A>G (p.Gly265=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2801266	NM_005419.4(STAT2):c.1780A>G (p.Met594Val)	STAT2 (M580V +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2798041	NM_005419.4(STAT2):c.778del (p.Thr260fs)	STAT2 (T260fs +1 more)	Deletion (frameshift variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GPathogenic
Select item 2796194	NM_005419.4(STAT2):c.2114A>G (p.Glu705Gly)	STAT2 (E691G +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2795454	NM_005419.4(STAT2):c.471+10T>C	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2791440	NM_005419.4(STAT2):c.2266del (p.Glu756fs)	STAT2 (E742fs +5 more)	Deletion (frameshift variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GPathogenic
Select item 2787614	NM_005419.4(STAT2):c.1630C>T (p.Arg544Ter)	STAT2 (R537* +5 more)	Single nucleotide variant (nonsense)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GPathogenic
Select item 2784552	NM_005419.4(STAT2):c.590A>C (p.Lys197Thr)	STAT2 (K193T +1 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2781055	NM_005419.4(STAT2):c.941+8G>A	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2777678	NM_005419.4(STAT2):c.2502C>G (p.Val834=)	STAT2	Single nucleotide variant (synonymous variant +1 more)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2777131	NM_005419.4(STAT2):c.471+15dup	STAT2	Duplication (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2775653	NM_005419.4(STAT2):c.1630-6C>T	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2753872	NM_005419.4(STAT2):c.1658del (p.Phe553fs)	STAT2 (F520fs +5 more)	Deletion (frameshift variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GPathogenic
Select item 2741280	NM_005419.4(STAT2):c.1440+15C>T	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2740454	NM_005419.4(STAT2):c.1034+16C>T	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2739750	NM_005419.4(STAT2):c.1590G>A (p.Arg530=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2738421	NM_005419.4(STAT2):c.2176G>A (p.Gly726Arg)	STAT2 (G693R +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2735756	NM_005419.4(STAT2):c.285+12G>A	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2731465	NM_005419.4(STAT2):c.1764G>A (p.Arg588=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2728515	NM_005419.4(STAT2):c.1728_1734dup (p.Gly579fs)	STAT2 (G565fs +5 more)	Duplication (frameshift variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GPathogenic
Select item 2725047	NM_005419.4(STAT2):c.1629+10T>C	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2721849	NM_005419.4(STAT2):c.1441-19A>G	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2714613	NM_005419.4(STAT2):c.668G>T (p.Arg223Leu)	STAT2 (R219L +1 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2708385	NM_005419.4(STAT2):c.547+11C>G	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2671942	NM_005419.4(STAT2):c.1034G>A (p.Arg345Lys)	STAT2 (R341K +1 more)	Single nucleotide variant (missense variant)	Pseudo-TORCH syndrome 3	GUncertain significance
Select item 2662412	NM_005419.4(STAT2):c.1182G>C (p.Gln394His)	STAT2 (Q383H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643091	NM_005419.4(STAT2):c.1776G>A (p.Lys592=)	STAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2521203	NM_005419.4(STAT2):c.1814C>T (p.Ser605Leu)	STAT2 (S598L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513045	NM_005419.4(STAT2):c.1472C>T (p.Ala491Val)	STAT2 (A458V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477082	NM_005419.4(STAT2):c.611A>G (p.Asn204Ser)	STAT2 (N204S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2436506	NM_005419.4(STAT2):c.83C>T (p.Pro28Leu)	STAT2 (P28L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428770	NM_005419.4(STAT2):c.1301C>G (p.Thr434Arg)	STAT2 (T423R +3 more)	Single nucleotide variant (missense variant)	Susceptibility to severe COVID-19	GLikely risk allele
Select item 2428069	NM_005419.4(STAT2):c.1032A>G (p.Thr344=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2425349	NC_000012.11:g.(?_56739910)_(56740759_?)del	STAT2	Deletion	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2420084	NM_005419.4(STAT2):c.2446A>C (p.Met816Leu)	STAT2 (M783L +5 more)	Single nucleotide variant (missense variant +1 more)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2418389	NM_005419.4(STAT2):c.1642C>T (p.Pro548Ser)	STAT2 (P515S +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2413412	NM_005419.4(STAT2):c.235G>C (p.Glu79Gln)	STAT2 (E79Q)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2328517	NM_005419.4(STAT2):c.331C>A (p.Leu111Ile)	STAT2 (L107I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323316	NM_005419.4(STAT2):c.1529G>A (p.Arg510Gln)	STAT2 (R477Q +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection +1 more	GUncertain significance
Select item 2317719	NM_005419.4(STAT2):c.373G>C (p.Ala125Pro)	STAT2 (A121P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271479	NM_005419.4(STAT2):c.1734G>C (p.Met578Ile)	STAT2 (M574I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249418	NM_005419.4(STAT2):c.1288A>G (p.Ile430Val)	STAT2 (I430V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200343	NM_005419.4(STAT2):c.898C>T (p.Arg300Cys)	STAT2 (R300C +1 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2200015	NM_005419.4(STAT2):c.514G>A (p.Val172Ile)	STAT2 (V172I +1 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2197469	NM_005419.4(STAT2):c.2500G>A (p.Val834Ile)	STAT2 (V801I +5 more)	Single nucleotide variant (missense variant +1 more)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection +1 more	GConflicting classifications of pathogenicity
Select item 2190563	NM_005419.4(STAT2):c.2196G>C (p.Glu732Asp)	STAT2 (E699D +5 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection +1 more	GUncertain significance
Select item 2190527	NM_005419.4(STAT2):c.403G>T (p.Glu135Ter)	STAT2 (E131* +1 more)	Single nucleotide variant (nonsense)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GPathogenic
Select item 2186404	NM_005419.4(STAT2):c.2413+14T>C	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2178410	NM_005419.4(STAT2):c.1482C>T (p.Ser494=)	STAT2	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2177638	NM_005419.4(STAT2):c.1360G>A (p.Val454Met)	STAT2 (V450M +3 more)	Single nucleotide variant (missense variant +1 more)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2177096	NM_005419.4(STAT2):c.1116-18A>C	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2175775	NM_005419.4(STAT2):c.217C>T (p.Arg73Cys)	STAT2 (R73C)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2174825	NM_005419.4(STAT2):c.1249A>G (p.Ser417Gly)	STAT2 (S410G +3 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2171309	NM_005419.4(STAT2):c.1028G>A (p.Arg343Gln)	STAT2 (R339Q +1 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2171266	NM_005419.4(STAT2):c.800A>G (p.Lys267Arg)	STAT2 (K263R +1 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2168064	NM_005419.4(STAT2):c.1577-15C>T	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GLikely benign
Select item 2165827	NM_005419.4(STAT2):c.218G>A (p.Arg73His)	STAT2 (R73H)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2165241	NM_005419.4(STAT2):c.782+3G>A	STAT2	Single nucleotide variant (intron variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance
Select item 2164412	NM_005419.4(STAT2):c.1253A>G (p.Asn418Ser)	STAT2 (N407S +3 more)	Single nucleotide variant (missense variant)	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	GUncertain significance

<< First< Prev

Page of 5