111[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	LOC129937447, LOC129937448 +214 more	Copy number loss	See cases	GPathogenic
Select item 1197518	NM_183357.3(ADCY5):c.*157G>T	ADCY5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3027001	NM_183357.3(ADCY5):c.3783_*3del (p.Ter1262CysextTer?)	ADCY5	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1513947	NM_183357.3(ADCY5):c.3783_3786del (p.Ter1262SerextTer?)	ADCY5	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 784018	NM_183357.3(ADCY5):c.3777G>A (p.Pro1259=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 794055	NM_183357.3(ADCY5):c.3776C>T (p.Pro1259Leu)	ADCY5 (P1259L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3081909	NM_183357.3(ADCY5):c.3764A>G (p.Asn1255Ser)	ADCY5 (N1255S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1413352	NM_183357.3(ADCY5):c.3755A>G (p.Tyr1252Cys)	ADCY5 (Y1277C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1398651	NM_183357.3(ADCY5):c.3749T>C (p.Met1250Thr)	ADCY5 (M900T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2117500	NM_183357.3(ADCY5):c.3748A>C (p.Met1250Leu)	ADCY5 (M1250L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987356	NM_183357.3(ADCY5):c.3742G>A (p.Glu1248Lys)	ADCY5 (E898K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1665460	NM_183357.3(ADCY5):c.3741C>A (p.Gly1247=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1519742	NM_183357.3(ADCY5):c.3736A>G (p.Lys1246Glu)	ADCY5 (K1246E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1353753	NM_183357.3(ADCY5):c.3722TCAAGG[1] (p.1241VK[1])	ADCY5	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3081905	NM_183357.3(ADCY5):c.3717C>T (p.Gly1239=)	ADCY5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1327483	NM_183357.3(ADCY5):c.3712C>T (p.Arg1238Trp)	ADCY5 (R1238W +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	GPathogenic
Select item 1387226	NM_183357.3(ADCY5):c.3710G>A (p.Cys1237Tyr)	ADCY5 (C1237Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 702999	NM_183357.3(ADCY5):c.3696G>A (p.Thr1232=)	ADCY5	Single nucleotide variant (synonymous variant)	Dyskinesia with orofacial involvement, autosomal dominant +3 more	GBenign/Likely benign
Select item 1900009	NM_183357.3(ADCY5):c.3695C>T (p.Thr1232Met)	ADCY5 (T1257M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3269552	NM_183357.3(ADCY5):c.3689C>T (p.Ala1230Val)	ADCY5 (A1230V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3269541	NM_183357.3(ADCY5):c.3688G>A (p.Ala1230Thr)	ADCY5 (A1230T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 425304	NM_183357.3(ADCY5):c.3684G>A (p.Leu1228=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2729973	NM_183357.3(ADCY5):c.3679G>A (p.Val1227Met)	ADCY5 (V877M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1013213	NM_183357.3(ADCY5):c.3669C>T (p.Asp1223=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1013214	NM_183357.3(ADCY5):c.3658-3C>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1597563	NM_183357.3(ADCY5):c.3658-9C>A	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649686	NM_183357.3(ADCY5):c.3658-15_3658-13del	ADCY5	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1918120	NM_183357.3(ADCY5):c.3658-18C>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181177	NM_183357.3(ADCY5):c.3658-104C>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897797	NM_183357.3(ADCY5):c.3657+19A>G	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1328850	NM_183357.3(ADCY5):c.3649C>T (p.Arg1217Cys)	ADCY5 (R1217C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2369340	NM_183357.3(ADCY5):c.3646G>A (p.Asp1216Asn)	ADCY5 (D1241N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2728200	NM_183357.3(ADCY5):c.3645C>T (p.Pro1215=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654074	NM_183357.3(ADCY5):c.3642A>G (p.Val1214=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2734555	NM_183357.3(ADCY5):c.3625A>G (p.Met1209Val)	ADCY5 (M1209V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 425305	NM_183357.3(ADCY5):c.3623G>A (p.Arg1208His)	ADCY5 (R1208H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2691766	NM_183357.3(ADCY5):c.3622C>T (p.Arg1208Cys)	ADCY5 (R1208C +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	GLikely pathogenic
Select item 931467	NM_183357.3(ADCY5):c.3613G>A (p.Val1205Met)	ADCY5 (V1230M +2 more)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GUncertain significance
Select item 1588569	NM_183357.3(ADCY5):c.3612C>T (p.Asn1204=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 387359	NM_183357.3(ADCY5):c.3599G>T (p.Gly1200Val)	ADCY5 (G1200V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698109	NM_183357.3(ADCY5):c.3593T>C (p.Ile1198Thr)	ADCY5 (I1198T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451099	NM_183357.3(ADCY5):c.3584A>C (p.Gln1195Pro)	ADCY5 (Q1195P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1498323	NM_183357.3(ADCY5):c.3575G>A (p.Arg1192Gln)	ADCY5 (R1192Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303962	NM_183357.3(ADCY5):c.3559G>A (p.Gly1187Arg)	ADCY5 (G1187R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1562746	NM_183357.3(ADCY5):c.3558C>T (p.Ala1186=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1698004	NM_183357.3(ADCY5):c.3550G>A (p.Val1184Met)	ADCY5 (V1184M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888416	NM_183357.3(ADCY5):c.3543C>T (p.Ile1181=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3251261	NM_183357.3(ADCY5):c.3534G>A (p.Gly1178=)	ADCY5	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1270434	NM_183357.3(ADCY5):c.3533-268T>C	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196345	NM_183357.3(ADCY5):c.3532+193C>A	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188956	NM_183357.3(ADCY5):c.3532+78A>C	ADCY5	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1304235	NM_183357.3(ADCY5):c.3532+20G>T	ADCY5	Single nucleotide variant (intron variant)	Dyskinesia with orofacial involvement, autosomal recessive +3 more	GBenign/Likely benign
Select item 1642187	NM_183357.3(ADCY5):c.3532+17G>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1511659	NM_183357.3(ADCY5):c.3532+5G>A	ADCY5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2069890	NM_183357.3(ADCY5):c.3457G>A (p.Asp1153Asn)	ADCY5 (D1153N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1640477	NM_183357.3(ADCY5):c.3456C>T (p.Ala1152=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 701811	NM_183357.3(ADCY5):c.3420C>T (p.Tyr1140=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2887234	NM_183357.3(ADCY5):c.3409G>A (p.Asp1137Asn)	ADCY5 (D1162N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982162	NM_183357.3(ADCY5):c.3408C>T (p.Asn1136=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724085	NM_183357.3(ADCY5):c.3402C>T (p.Gly1134=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902445	NM_183357.3(ADCY5):c.3399C>T (p.Ser1133=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1314013	NM_183357.3(ADCY5):c.3385T>C (p.Tyr1129His)	ADCY5 (Y1129H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 703755	NM_183357.3(ADCY5):c.3375C>T (p.Ile1125=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1967936	NM_183357.3(ADCY5):c.3357G>A (p.Leu1119=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1493634	NM_183357.3(ADCY5):c.3352C>A (p.Gln1118Lys)	ADCY5 (Q768K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1552680	NM_183357.3(ADCY5):c.3344G>A (p.Arg1115Gln)	ADCY5 (R1115Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2504268	NM_183357.3(ADCY5):c.3341A>G (p.Asp1114Gly)	ADCY5 (D1114G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901541	NM_183357.3(ADCY5):c.3338A>G (p.Glu1113Gly)	ADCY5 (E1138G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 499598	NM_183357.3(ADCY5):c.3336C>T (p.Ser1112=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2901277	NM_183357.3(ADCY5):c.3333C>T (p.Ile1111=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1327280	NM_183357.3(ADCY5):c.3331A>G (p.Ile1111Val)	ADCY5 (I1111V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007352	NM_183357.3(ADCY5):c.3328-6A>C	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1916018	NM_183357.3(ADCY5):c.3328-14C>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989707	NM_183357.3(ADCY5):c.3328-15G>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280954	NM_183357.3(ADCY5):c.3328-111C>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200896	NM_183357.3(ADCY5):c.3328-164C>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290314	NM_183357.3(ADCY5):c.3328-244C>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260827	NM_183357.3(ADCY5):c.3327+136G>A	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267179	NM_183357.3(ADCY5):c.3327+101G>A	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1086091	NM_183357.3(ADCY5):c.3327+10G>A	ADCY5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1598991	NM_183357.3(ADCY5):c.3327+9C>T	ADCY5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1467036	NM_183357.3(ADCY5):c.3327+5A>C	ADCY5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1591939	NM_183357.3(ADCY5):c.3312C>T (p.Ile1104=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2558046	NM_183357.3(ADCY5):c.3302A>G (p.Asn1101Ser)	ADCY5 (N1101S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1583129	NM_183357.3(ADCY5):c.3282C>T (p.Val1094=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2444797	NM_183357.3(ADCY5):c.3277G>A (p.Gly1093Ser)	ADCY5 (G1093S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451100	NM_183357.3(ADCY5):c.3274G>A (p.Glu1092Lys)	ADCY5 (E1092K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175417	NM_183357.3(ADCY5):c.3273C>T (p.Asn1091=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1209883	NM_183357.3(ADCY5):c.3253G>A (p.Val1085Ile)	ADCY5 (V1085I +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2188079	NM_183357.3(ADCY5):c.3252C>T (p.Tyr1084=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1715259	NM_183357.3(ADCY5):c.3251A>G (p.Tyr1084Cys)	ADCY5 (Y1084C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989050	NM_183357.3(ADCY5):c.3243C>T (p.Ser1081=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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