ClinVar for Gene (Select 29102) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148925	GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	ADAMTS16, ADCY2 +70 more	Copy number gain	not provided	GPathogenic
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 3085831	NM_001382508.1(DROSHA):c.769G>T (p.Asp257Tyr)	DROSHA (D257Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085830	NM_001382508.1(DROSHA):c.452T>A (p.Met151Lys)	DROSHA (M151K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3085827	NM_001382508.1(DROSHA):c.284C>A (p.Pro95His)	DROSHA (P95H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085826	NM_001382508.1(DROSHA):c.283C>T (p.Pro95Ser)	DROSHA (P95S)	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 3085824	NM_001382508.1(DROSHA):c.232T>A (p.Phe78Ile)	DROSHA (F78I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3085822	NM_001382508.1(DROSHA):c.224G>A (p.Arg75Gln)	DROSHA (R75Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085821	NM_001382508.1(DROSHA):c.157T>C (p.Tyr53His)	DROSHA (Y53H)	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 condition	GBenign
Select item 3060332	NM_001382508.1(DROSHA):c.3012T>A (p.Val1004=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related condition	GLikely benign
Select item 3060031	NM_001382508.1(DROSHA):c.3765T>C (p.Asn1255=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related condition	GBenign
Select item 3059907	NM_001382508.1(DROSHA):c.2943-5del	DROSHA	Deletion (intron variant)	DROSHA-related condition	GLikely benign
Select item 3059023	NM_001382508.1(DROSHA):c.962C>T (p.Ser321Leu)	DROSHA (S321L)	Single nucleotide variant (missense variant +1 more)	DROSHA-related condition	GBenign
Select item 3058975	NM_001382508.1(DROSHA):c.2943-5dup	DROSHA	Duplication (intron variant)	DROSHA-related condition	GBenign
Select item 3058687	NM_001382508.1(DROSHA):c.782A>G (p.Gln261Arg)	DROSHA (Q261R)	Single nucleotide variant (missense variant)	DROSHA-related condition	GLikely benign
Select item 3058294	NM_001382508.1(DROSHA):c.3633G>A (p.Ala1211=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related condition	GLikely benign
Select item 3057415	NM_001382508.1(DROSHA):c.4032C>T (p.Ile1344=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related condition	GLikely benign
Select item 3056959	NM_001382508.1(DROSHA):c.509C>T (p.Pro170Leu)	DROSHA (P170L)	Single nucleotide variant (missense variant)	DROSHA-related condition	GBenign
Select item 3054946	NM_001382508.1(DROSHA):c.2883-4G>A	DROSHA	Single nucleotide variant (intron variant)	DROSHA-related condition	GLikely benign
Select item 3054883	NM_001382508.1(DROSHA):c.1791C>T (p.His597=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related condition	GLikely benign
Select item 3054498	NM_001382508.1(DROSHA):c.3573G>A (p.Ala1191=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related condition	GLikely benign
Select item 3054331	NM_001382508.1(DROSHA):c.3570A>G (p.Val1190=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related condition	GLikely benign
Select item 3050641	NM_001382508.1(DROSHA):c.2575-6del	DROSHA	Deletion (intron variant)	DROSHA-related condition	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 condition	GLikely benign
Select item 3048893	NM_001382508.1(DROSHA):c.2589A>G (p.Leu863=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related condition	GLikely benign
Select item 3048433	NM_001382508.1(DROSHA):c.300G>A (p.Pro100=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related condition	GLikely benign
Select item 3048208	NM_001382508.1(DROSHA):c.1761C>T (p.Asp587=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related condition	GLikely benign
Select item 3048002	NM_001382508.1(DROSHA):c.1433-9C>T	DROSHA	Single nucleotide variant (intron variant)	DROSHA-related condition	GLikely benign
Select item 3047915	NM_001382508.1(DROSHA):c.1062C>T (p.Arg354=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related condition	GLikely benign
Select item 3047097	NM_001382508.1(DROSHA):c.3654G>A (p.Ala1218=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related condition	GLikely benign
Select item 3046800	NM_001382508.1(DROSHA):c.876C>T (p.His292=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related condition	GLikely benign
Select item 3046049	NM_001382508.1(DROSHA):c.768C>T (p.Pro256=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related condition	GLikely benign
Select item 3045762	NM_001382508.1(DROSHA):c.2749T>C (p.Leu917=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related condition	GLikely benign
Select item 3045422	NM_001382508.1(DROSHA):c.2292C>T (p.Pro764=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related condition	GLikely benign
Select item 3043774	NM_001382508.1(DROSHA):c.2580A>C (p.Ala860=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related condition	GLikely benign
Select item 3043211	NM_001382508.1(DROSHA):c.2337T>C (p.Pro779=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related condition	GLikely benign
Select item 3041551	NM_001382508.1(DROSHA):c.3169C>T (p.Leu1057=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related condition	GLikely benign
Select item 3040208	NM_001382508.1(DROSHA):c.3807C>T (p.Cys1269=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related condition	GLikely benign
Select item 3039297	NM_001382508.1(DROSHA):c.3627T>C (p.Pro1209=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related condition	GLikely benign
Select item 3038764	NM_001382508.1(DROSHA):c.2943C>T (p.Ser981=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related condition	GBenign
Select item 3037785	NM_001382508.1(DROSHA):c.2575-6dup	DROSHA	Duplication (intron variant)	DROSHA-related condition	GLikely benign
Select item 3037453	NM_001382508.1(DROSHA):c.3855-7C>T	DROSHA	Single nucleotide variant (intron variant)	DROSHA-related condition	GLikely benign
Select item 3036798	NM_001382508.1(DROSHA):c.483G>A (p.Pro161=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related condition	GLikely benign
Select item 3036332	NM_001382508.1(DROSHA):c.1677G>A (p.Lys559=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related condition	GLikely benign
Select item 3031906	NM_001382508.1(DROSHA):c.1617C>T (p.Ser539=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related condition	GLikely benign
Select item 3031609	NM_001382508.1(DROSHA):c.3225C>T (p.Arg1075=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related condition	GLikely benign
Select item 3029590	NM_001382508.1(DROSHA):c.20+9C>T	DROSHA	Single nucleotide variant (intron variant)	DROSHA-related condition	GLikely benign
Select item 3029129	NM_001382508.1(DROSHA):c.51G>A (p.Gly17=)	DROSHA	Single nucleotide variant (synonymous variant)	DROSHA-related condition	GLikely benign
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	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 2636854	NM_001382508.1(DROSHA):c.835C>T (p.Arg279Cys)	DROSHA (R279C)	Single nucleotide variant (missense variant)	DROSHA-related condition	GUncertain significance
Select item 2636054	NM_001382508.1(DROSHA):c.631C>A (p.Pro211Thr)	DROSHA (P211T)	Single nucleotide variant (missense variant)	DROSHA-related condition	GUncertain significance
Select item 2635891	NM_001382508.1(DROSHA):c.1060C>T (p.Arg354Cys)	DROSHA (R317C +1 more)	Single nucleotide variant (missense variant)	DROSHA-related condition	GUncertain significance
Select item 2634221	NM_001382508.1(DROSHA):c.299C>T (p.Pro100Leu)	DROSHA (P100L)	Single nucleotide variant (missense variant)	DROSHA-related condition	GUncertain significance
Select item 2634124	NM_001382508.1(DROSHA):c.742G>C (p.Asp248His)	DROSHA (D248H)	Single nucleotide variant (missense variant)	DROSHA-related condition	GUncertain significance
Select item 2633311	NM_001382508.1(DROSHA):c.119G>C (p.Arg40Thr)	DROSHA (R40T)	Single nucleotide variant (missense variant)	DROSHA-related condition	GUncertain significance
Select item 2629293	NM_001382508.1(DROSHA):c.663_665del (p.Pro222del)	DROSHA (P222del)	Deletion (inframe_deletion)	DROSHA-related condition	GUncertain significance
Select item 2629239	NM_001382508.1(DROSHA):c.527A>G (p.Asn176Ser)	DROSHA (N176S)	Single nucleotide variant (missense variant)	DROSHA-related condition	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 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 2493452	NM_001382508.1(DROSHA):c.398C>T (p.Pro133Leu)	DROSHA (P133L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491836	NM_001382508.1(DROSHA):c.572C>A (p.Ser191Tyr)	DROSHA (S191Y)	Single nucleotide variant (missense variant)	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 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 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 2374763	NM_001382508.1(DROSHA):c.607C>T (p.His203Tyr)	DROSHA (H203Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 2278227	NM_001382508.1(DROSHA):c.478A>G (p.Met160Val)	DROSHA (M160V)	Single nucleotide variant (missense variant)	not specified +1 more	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 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 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 2227008	NM_001382508.1(DROSHA):c.482C>T (p.Pro161Leu)	DROSHA (P161L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225577	NM_001382508.1(DROSHA):c.749G>A (p.Arg250Gln)	DROSHA (R250Q)	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 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 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 1809293	GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1	ADAMTS16, ADCY2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1807906	GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1	ADAMTS16, ADCY2 +71 more	Copy number loss	not provided	GPathogenic
Select item 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
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 1012370	GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	See cases	GPathogenic
Select item 992331	NM_001382508.1(DROSHA):c.203C>A (p.Ala68Asp)	DROSHA (A68D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 814678	GRCh37/hg19 5p13.3-13.2(chr5:29720391-34124081)x1	TARS1, RXFP3 +13 more	Copy number loss	not provided	GUncertain significance
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 791420	NM_001382508.1(DROSHA):c.248C>T (p.Pro83Leu)	DROSHA (P83L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 791257	NM_001382508.1(DROSHA):c.525C>T (p.His175=)	DROSHA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 790017	NM_001382508.1(DROSHA):c.1164G>A (p.Lys388=)	DROSHA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 789582	NM_001382508.1(DROSHA):c.3927A>C (p.Ile1309=)	DROSHA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787617	NM_001382508.1(DROSHA):c.166C>T (p.Pro56Ser)	DROSHA (P56S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 785118	NM_001382508.1(DROSHA):c.199C>A (p.Pro67Thr)	DROSHA (P67T)	Single nucleotide variant (missense variant)	not provided	GBenign

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