DROSHA[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146365	GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1	ADAMTS16, ADAMTS16-DT +606 more	Copy number loss	See cases	GPathogenic
Select item 144306	GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3	ADAMTS16, ADAMTS16-DT +642 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 60258	GRCh38/hg38 5p13.3(chr5:30121868-32072887)x1	C5orf22, CDH6 +22 more	Copy number loss	See cases	GUncertain significance
Select item 60259	GRCh38/hg38 5p13.3(chr5:30138275-32106743)x1	C5orf22, CDH6 +23 more	Copy number loss	See cases	GUncertain significance
Select item 59606	GRCh38/hg38 5p13.3-13.2(chr5:30149035-35213678)x1	ADAMTS12, AGXT2 +116 more	Copy number loss	See cases	GPathogenic
Select item 146364	GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1	ADAMTS12, AGXT2 +128 more	Copy number loss	See cases	GLikely pathogenic
Select item 147643	GRCh38/hg38 5p13.3(chr5:31208753-32173244)x3	C5orf22, CDH6 +17 more	Copy number gain	See cases	GPathogenic
Select item 1927643	NM_001382508.1(DROSHA):c.4117A>G (p.Lys1373Glu)	DROSHA (K1336E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3057415	NM_001382508.1(DROSHA):c.4032C>T (p.Ile1344=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related disorder	GLikely benign
Select item 729434	NM_001382508.1(DROSHA):c.3948-10_3948-6del	DROSHA	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3354411	NM_001382508.1(DROSHA):c.3948-9A>C	DROSHA	Single nucleotide variant (intron variant)	DROSHA-related disorder	GLikely benign
Select item 789582	NM_001382508.1(DROSHA):c.3927A>C (p.Ile1309=)	DROSHA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3037453	NM_001382508.1(DROSHA):c.3855-7C>T	DROSHA	Single nucleotide variant (intron variant)	DROSHA-related disorder	GLikely benign
Select item 3085828	NM_001382508.1(DROSHA):c.3851A>G (p.Tyr1284Cys)	DROSHA (Y1247C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040208	NM_001382508.1(DROSHA):c.3807C>T (p.Cys1269=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related disorder	GLikely benign
Select item 2307774	NM_001382508.1(DROSHA):c.3781C>T (p.Pro1261Ser)	DROSHA (P1224S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060031	NM_001382508.1(DROSHA):c.3765T>C (p.Asn1255=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related disorder	GBenign
Select item 3344752	NM_001382508.1(DROSHA):c.3751-9C>T	DROSHA	Single nucleotide variant (intron variant)	DROSHA-related disorder	GLikely benign
Select item 804248	NM_001382508.1(DROSHA):c.3656A>G (p.Asp1219Gly)	DROSHA (D1182G +1 more)	Single nucleotide variant (missense variant)	DROSHA-related neurodevelopmental disorder	GUncertain significance
Select item 3047097	NM_001382508.1(DROSHA):c.3654G>A (p.Ala1218=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related disorder	GLikely benign
Select item 3058294	NM_001382508.1(DROSHA):c.3633G>A (p.Ala1211=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related disorder	GLikely benign
Select item 3039297	NM_001382508.1(DROSHA):c.3627T>C (p.Pro1209=)	DROSHA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 776037	NM_001382508.1(DROSHA):c.3597C>T (p.Tyr1199=)	DROSHA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3273772	NM_001382508.1(DROSHA):c.3584G>A (p.Gly1195Asp)	DROSHA (G1158D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054498	NM_001382508.1(DROSHA):c.3573G>A (p.Ala1191=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related disorder	GLikely benign
Select item 3054331	NM_001382508.1(DROSHA):c.3570A>G (p.Val1190=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related disorder	GLikely benign
Select item 3273775	NM_001382508.1(DROSHA):c.3340A>G (p.Ile1114Val)	DROSHA (I1077V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060707	NM_001382508.1(DROSHA):c.3306A>G (p.Pro1102=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related disorder	GBenign
Select item 3031609	NM_001382508.1(DROSHA):c.3225C>T (p.Arg1075=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related disorder	GLikely benign
Select item 1343297	NM_001382508.1(DROSHA):c.3218A>C (p.Asp1073Ala)	DROSHA (D1036A +1 more)	Single nucleotide variant (missense variant)	Hepatoblastoma	GUncertain significance
Select item 780954	NM_001382508.1(DROSHA):c.3216+9A>G	DROSHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3273770	NM_001382508.1(DROSHA):c.3215C>T (p.Pro1072Leu)	DROSHA (P1035L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614056	NM_001382508.1(DROSHA):c.3196C>T (p.Arg1066Cys)	DROSHA (R1029C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041551	NM_001382508.1(DROSHA):c.3169C>T (p.Leu1057=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related disorder	GLikely benign
Select item 739822	NM_001382508.1(DROSHA):c.3150T>A (p.Ala1050=)	DROSHA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2320378	NM_001382508.1(DROSHA):c.3101C>T (p.Ser1034Leu)	DROSHA (S997L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782448	NM_001382508.1(DROSHA):c.3027T>C (p.Leu1009=)	DROSHA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3060332	NM_001382508.1(DROSHA):c.3012T>A (p.Val1004=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related disorder	GLikely benign
Select item 3038764	NM_001382508.1(DROSHA):c.2943C>T (p.Ser981=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related disorder	GBenign
Select item 3058975	NM_001382508.1(DROSHA):c.2943-5dup	DROSHA	Duplication (intron variant)	DROSHA-related disorder	GBenign
Select item 3059907	NM_001382508.1(DROSHA):c.2943-5del	DROSHA	Deletion (intron variant)	DROSHA-related disorder	GLikely benign
Select item 3054946	NM_001382508.1(DROSHA):c.2883-4G>A	DROSHA	Single nucleotide variant (intron variant)	DROSHA-related disorder	GLikely benign
Select item 3045762	NM_001382508.1(DROSHA):c.2749T>C (p.Leu917=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related disorder	GLikely benign
Select item 2271190	NM_001382508.1(DROSHA):c.2714A>G (p.Asn905Ser)	DROSHA (N868S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085825	NM_001382508.1(DROSHA):c.2632C>T (p.His878Tyr)	DROSHA (H878Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220480	NM_001382508.1(DROSHA):c.2611C>T (p.Arg871Cys)	DROSHA (R834C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048893	NM_001382508.1(DROSHA):c.2589A>G (p.Leu863=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related disorder	GLikely benign
Select item 3043774	NM_001382508.1(DROSHA):c.2580A>C (p.Ala860=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related disorder	GLikely benign
Select item 3037785	NM_001382508.1(DROSHA):c.2575-6dup	DROSHA	Duplication (intron variant)	DROSHA-related disorder	GLikely benign
Select item 3050641	NM_001382508.1(DROSHA):c.2575-6del	DROSHA	Deletion (intron variant)	DROSHA-related disorder	GLikely benign
Select item 2309394	NM_001382508.1(DROSHA):c.2348G>A (p.Ser783Asn)	DROSHA (S746N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043211	NM_001382508.1(DROSHA):c.2337T>C (p.Pro779=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related disorder	GLikely benign
Select item 3085823	NM_001382508.1(DROSHA):c.2293G>A (p.Asp765Asn)	DROSHA (D765N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045422	NM_001382508.1(DROSHA):c.2292C>T (p.Pro764=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related disorder	GLikely benign
Select item 3273773	NM_001382508.1(DROSHA):c.2290C>T (p.Pro764Ser)	DROSHA (P727S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384098	NM_001382508.1(DROSHA):c.2240C>T (p.Thr747Met)	DROSHA (T710M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3337052	NM_001382508.1(DROSHA):c.2075G>T (p.Gly692Val)	DROSHA (G655V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3347331	NM_001382508.1(DROSHA):c.2012A>G (p.Asp671Gly)	DROSHA (D634G +1 more)	Single nucleotide variant (missense variant)	DROSHA-related disorder	GUncertain significance
Select item 3344970	NM_001382508.1(DROSHA):c.1963G>A (p.Asp655Asn)	DROSHA (D618N +1 more)	Single nucleotide variant (missense variant)	DROSHA-related disorder	GUncertain significance
Select item 3351625	NM_001382508.1(DROSHA):c.1911G>A (p.Pro637=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related disorder	GLikely benign
Select item 2494653	NM_001382508.1(DROSHA):c.1856A>G (p.Lys619Arg)	DROSHA (K619R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2024515	NM_001382508.1(DROSHA):c.1842T>G (p.Asn614Lys)	DROSHA, LOC123493282 (N577K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3054883	NM_001382508.1(DROSHA):c.1791C>T (p.His597=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related disorder	GLikely benign
Select item 3048208	NM_001382508.1(DROSHA):c.1761C>T (p.Asp587=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related disorder	GLikely benign
Select item 3036332	NM_001382508.1(DROSHA):c.1677G>A (p.Lys559=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related disorder	GLikely benign
Select item 3050303	NM_001382508.1(DROSHA):c.1669G>T (p.Ala557Ser)	DROSHA (A520S +1 more)	Single nucleotide variant (missense variant)	DROSHA-related disorder	GLikely benign
Select item 3031906	NM_001382508.1(DROSHA):c.1617C>T (p.Ser539=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related disorder	GLikely benign
Select item 752392	NM_001382508.1(DROSHA):c.1587+10T>C	DROSHA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 981828	NM_001382508.1(DROSHA):c.1498G>T (p.Glu500Ter)	DROSHA (E463* +1 more)	Single nucleotide variant (nonsense)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3346764	NM_001382508.1(DROSHA):c.1472G>A (p.Ser491Asn)	DROSHA (S454N +1 more)	Single nucleotide variant (missense variant)	DROSHA-related disorder	GUncertain significance
Select item 3048002	NM_001382508.1(DROSHA):c.1433-9C>T	DROSHA	Single nucleotide variant (intron variant)	DROSHA-related disorder	GLikely benign
Select item 2331330	NM_001382508.1(DROSHA):c.1361G>C (p.Ser454Thr)	DROSHA (S454T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739823	NM_001382508.1(DROSHA):c.1245C>T (p.Cys415=)	DROSHA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3352566	NM_001382508.1(DROSHA):c.1176C>T (p.Pro392=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related disorder	GLikely benign
Select item 790017	NM_001382508.1(DROSHA):c.1164G>A (p.Lys388=)	DROSHA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3357125	NM_001382508.1(DROSHA):c.1128G>A (p.Gln376=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related disorder	GLikely benign
Select item 3273769	NM_001382508.1(DROSHA):c.1111C>T (p.Arg371Cys)	DROSHA (R371C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238981	NM_001382508.1(DROSHA):c.1091G>A (p.Arg364His)	DROSHA (R364H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047915	NM_001382508.1(DROSHA):c.1062C>T (p.Arg354=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related disorder	GLikely benign
Select item 2635891	NM_001382508.1(DROSHA):c.1060C>T (p.Arg354Cys)	DROSHA (R317C +1 more)	Single nucleotide variant (missense variant)	DROSHA-related disorder	GUncertain significance
Select item 2388143	NM_001382508.1(DROSHA):c.1055A>T (p.Asn352Ile)	DROSHA (N352I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273771	NM_001382508.1(DROSHA):c.1039C>T (p.Pro347Ser)	DROSHA (P347S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474592	NM_001382508.1(DROSHA):c.1015A>G (p.Lys339Glu)	DROSHA (K339E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3059023	NM_001382508.1(DROSHA):c.962C>T (p.Ser321Leu)	DROSHA (S321L)	Single nucleotide variant (missense variant +1 more)	DROSHA-related disorder	GBenign
Select item 2314717	NM_001382508.1(DROSHA):c.955G>C (p.Gly319Arg)	DROSHA (G319R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085832	NM_001382508.1(DROSHA):c.944G>A (p.Gly315Glu)	DROSHA (G315E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3341925	NM_001382508.1(DROSHA):c.928G>A (p.Glu310Lys)	DROSHA (E310K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3046800	NM_001382508.1(DROSHA):c.876C>T (p.His292=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related disorder	GLikely benign
Select item 2636854	NM_001382508.1(DROSHA):c.835C>T (p.Arg279Cys)	DROSHA (R279C)	Single nucleotide variant (missense variant)	DROSHA-related disorder	GUncertain significance
Select item 2276678	NM_001382508.1(DROSHA):c.830G>A (p.Arg277His)	DROSHA (R277H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352284	NM_001382508.1(DROSHA):c.812G>A (p.Arg271Gln)	DROSHA (R271Q)	Single nucleotide variant (missense variant)	DROSHA-related disorder	GUncertain significance
Select item 3058687	NM_001382508.1(DROSHA):c.782A>G (p.Gln261Arg)	DROSHA (Q261R)	Single nucleotide variant (missense variant)	DROSHA-related disorder	GLikely benign

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