ClinVar for Gene (Select 146206) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256206	NM_001082486.2(ACD):c.*43T>C	ACD, CARMIL2	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3250432	NM_001013838.3(CARMIL2):c.1828A>C (p.Asn610His)	CARMIL2 (N574H +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARMIL2 deficiency	GUncertain significance
Select item 3067501	NM_001013838.3(CARMIL2):c.1237G>A (p.Ala413Thr)	CARMIL2 (A413T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3063446	GRCh37/hg19 16q22.1(chr16:67583728-69977397)x3	ACD, C16orf86 +48 more	Copy number gain	not specified	GUncertain significance
Select item 3037225	NM_001013838.3(CARMIL2):c.3795C>T (p.Arg1265=)	CARMIL2	Single nucleotide variant (synonymous variant)	CARMIL2-related disorder	GLikely benign
Select item 3023958	NM_001013838.3(CARMIL2):c.1592-6C>T	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021947	NM_001013838.3(CARMIL2):c.2588+18G>T	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021762	NM_001013838.3(CARMIL2):c.2511G>A (p.Glu837=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020243	NM_001013838.3(CARMIL2):c.2676+14G>T	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018535	NM_001013838.3(CARMIL2):c.1038T>C (p.Asn346=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018222	NM_001013838.3(CARMIL2):c.108G>C (p.Glu36Asp)	CARMIL2 (E36D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017816	NM_001013838.3(CARMIL2):c.2082+7G>A	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017516	NM_001013838.3(CARMIL2):c.879T>C (p.Thr293=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3016352	NM_001013838.3(CARMIL2):c.3804T>C (p.Ser1268=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012698	NM_001013838.3(CARMIL2):c.1250C>T (p.Pro417Leu)	CARMIL2 (P417L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3012419	NM_001013838.3(CARMIL2):c.4118-6C>G	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011741	NM_001013838.3(CARMIL2):c.2589-6C>T	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010052	NM_001013838.3(CARMIL2):c.3679G>A (p.Gly1227Arg)	CARMIL2 (G1191R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009903	NM_001013838.3(CARMIL2):c.294T>C (p.Phe98=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006623	NM_001013838.3(CARMIL2):c.1422G>A (p.Leu474=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006471	NM_001013838.3(CARMIL2):c.3659T>C (p.Ile1220Thr)	CARMIL2 (I1184T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004811	NM_001013838.3(CARMIL2):c.375-19C>G	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004123	NM_001013838.3(CARMIL2):c.2885-5C>T	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003244	NM_001013838.3(CARMIL2):c.3121-14A>G	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002010	NM_001013838.3(CARMIL2):c.3121-17C>A	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001105	NM_001013838.3(CARMIL2):c.3221+12G>T	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000705	NM_001013838.3(CARMIL2):c.1371C>T (p.Phe457=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000469	NM_001013838.3(CARMIL2):c.198G>T (p.Thr66=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2999918	NM_001013838.3(CARMIL2):c.3494G>A (p.Arg1165Gln)	CARMIL2 (R1129Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999387	NM_001013838.3(CARMIL2):c.2145C>A (p.Arg715=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999177	NM_001013838.3(CARMIL2):c.3583-16G>T	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995765	NM_001013838.3(CARMIL2):c.1626C>T (p.Ala542=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994836	NM_001013838.3(CARMIL2):c.2314-20T>C	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994748	NM_001013838.3(CARMIL2):c.3030A>G (p.Pro1010=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992830	NM_001013838.3(CARMIL2):c.2112C>G (p.Arg704=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992361	NM_001013838.3(CARMIL2):c.1071+12T>C	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991714	NM_001013838.3(CARMIL2):c.1335-3C>G	CARMIL2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2990921	NM_001013838.3(CARMIL2):c.3783G>A (p.Ser1261=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990634	NM_001013838.3(CARMIL2):c.744G>A (p.Glu248=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987283	NM_001013838.3(CARMIL2):c.3633G>A (p.Gln1211=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987270	NM_001013838.3(CARMIL2):c.1232_1257dup (p.Leu420delinsValTer)	CARMIL2	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 2986401	NM_001013838.3(CARMIL2):c.3582+17G>T	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986361	NM_001013838.3(CARMIL2):c.1253dup (p.Gln419fs)	CARMIL2 (Q419fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2985927	NM_001013838.3(CARMIL2):c.1509+7G>C	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984834	NM_001013838.3(CARMIL2):c.2866C>T (p.Leu956=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984617	NM_001013838.3(CARMIL2):c.375-18T>A	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982966	NM_001013838.3(CARMIL2):c.2820T>C (p.Asp940=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982098	NM_001013838.3(CARMIL2):c.40+17C>T	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981860	NM_001013838.3(CARMIL2):c.2082+10C>T	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981113	NM_001013838.3(CARMIL2):c.1123G>A (p.Ala375Thr)	CARMIL2 (A375T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980128	NM_001013838.3(CARMIL2):c.1682G>A (p.Arg561Gln)	CARMIL2 (R525Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980087	NM_001013838.3(CARMIL2):c.1334+16C>G	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979763	NM_001013838.3(CARMIL2):c.611+12G>A	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979325	NM_001013838.3(CARMIL2):c.4195+12T>C	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978409	NM_001013838.3(CARMIL2):c.1066A>G (p.Ser356Gly)	CARMIL2 (S356G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977209	NM_001013838.3(CARMIL2):c.3582+18G>A	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976113	NM_001013838.3(CARMIL2):c.3340C>A (p.Arg1114=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974761	NM_001013838.3(CARMIL2):c.4118-7C>G	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974462	NM_001013838.3(CARMIL2):c.3814+18T>C	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973276	NM_001013838.3(CARMIL2):c.3582+17G>C	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973037	NM_001013838.3(CARMIL2):c.3804T>G (p.Ser1268=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972816	NM_001013838.3(CARMIL2):c.2884+16G>A	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972349	NM_001013838.3(CARMIL2):c.3814+16TG[3]	CARMIL2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2970927	NM_001013838.3(CARMIL2):c.2424C>T (p.Ile808=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970401	NM_001013838.3(CARMIL2):c.1357G>T (p.Ala453Ser)	CARMIL2 (A417S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967539	NM_001013838.3(CARMIL2):c.3501C>G (p.Arg1167=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967151	NM_001013838.3(CARMIL2):c.3705+20G>A	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965932	NM_001013838.3(CARMIL2):c.467-13A>G	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964724	NM_001013838.3(CARMIL2):c.250-15G>A	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964588	NM_001013838.3(CARMIL2):c.1907A>T (p.Asn636Ile)	CARMIL2 (N600I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964465	NM_001013838.3(CARMIL2):c.381A>G (p.Leu127=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963507	NM_001013838.3(CARMIL2):c.2059C>T (p.Leu687=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961806	NM_001013838.3(CARMIL2):c.603C>T (p.Leu201=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961236	NM_001013838.3(CARMIL2):c.3742+11C>T	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958019	NM_001013838.3(CARMIL2):c.898G>A (p.Glu300Lys)	CARMIL2 (E300K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957508	NM_001013838.3(CARMIL2):c.2770T>C (p.Leu924=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956843	NM_001013838.3(CARMIL2):c.2082+18C>T	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956822	NM_001013838.3(CARMIL2):c.2589-20C>G	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954860	NM_001013838.3(CARMIL2):c.958+18G>A	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918993	NM_001013838.3(CARMIL2):c.3934G>C (p.Gly1312Arg)	CARMIL2 (G1276R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908673	NM_001013838.3(CARMIL2):c.4249C>A (p.Pro1417Thr)	CARMIL2 (P1417T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907760	NM_001013838.3(CARMIL2):c.1225C>T (p.Pro409Ser)	CARMIL2 (P409S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2904809	NM_001013838.3(CARMIL2):c.165C>T (p.His55=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903718	NM_001013838.3(CARMIL2):c.3908G>A (p.Arg1303His)	CARMIL2 (R1267H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901247	NM_001013838.3(CARMIL2):c.2129C>T (p.Ser710Phe)	CARMIL2 (S710F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900005	NM_001013838.3(CARMIL2):c.186+9C>T	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896808	NM_001013838.3(CARMIL2):c.1688+10dup	CARMIL2	Duplication (intron variant)	not provided	GBenign
Select item 2892937	NM_001013838.3(CARMIL2):c.3399C>A (p.Gly1133=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892218	NM_001013838.3(CARMIL2):c.2310C>G (p.Leu770=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891536	NM_001013838.3(CARMIL2):c.872-9C>A	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890447	NM_001013838.3(CARMIL2):c.1223_1224insGAC (p.Pro408_Pro409insThr)	CARMIL2	Insertion (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2889291	NM_001013838.3(CARMIL2):c.1836C>A (p.Thr612=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887927	NM_001013838.3(CARMIL2):c.3255G>A (p.Gly1085=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886667	NM_001013838.3(CARMIL2):c.4117+7G>A	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884760	NM_001013838.3(CARMIL2):c.2185-6C>T	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879296	NM_001013838.3(CARMIL2):c.955C>T (p.Arg319Ter)	CARMIL2 (R319*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2879138	NM_001013838.3(CARMIL2):c.6C>T (p.Ala2=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878451	NM_001013838.3(CARMIL2):c.1592-15C>T	CARMIL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876967	NM_001013838.3(CARMIL2):c.1998C>T (p.Ser666=)	CARMIL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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