BRSK2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	LOC130005114, LOC130005115 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC111718490, LOC112067719 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	LOC130005104, LOC130005105 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	STIM1-AS1, SYT8 +332 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	BGLT3, A-GAMMA3'E +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 58855	GRCh38/hg38 11p15.5(chr11:758848-1998025)x1	AP2A2, BRSK2 +115 more	Copy number loss	See cases	GPathogenic
Select item 154397	GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1	ASCL2, BRSK2 +129 more	Copy number loss	See cases	GPathogenic
Select item 1279834	NM_001256627.2(BRSK2):c.-14C>T	BRSK2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2458761	NM_001256627.2(BRSK2):c.19G>A (p.Asp7Asn)	BRSK2 (D7N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3135163	NM_001256627.2(BRSK2):c.25G>A (p.Gly9Ser)	BRSK2 (G9S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2505705	NM_001256627.2(BRSK2):c.82G>C (p.Gly28Arg)	BRSK2 (G28R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3047753	NM_001256627.2(BRSK2):c.91+21020G>A	BRSK2	Single nucleotide variant (5 prime UTR variant +1 more)	BRSK2-related disorder	GLikely benign
Select item 2635699	NM_001256627.2(BRSK2):c.91+21048C>T	BRSK2 (P7S)	Single nucleotide variant (missense variant +1 more)	BRSK2-related disorder	GUncertain significance
Select item 3030899	NM_001256627.2(BRSK2):c.91+21070G>A	BRSK2 (R14H)	Single nucleotide variant (missense variant +1 more)	BRSK2-related disorder	GUncertain significance
Select item 3059255	NM_001256627.2(BRSK2):c.91+21086T>C	BRSK2	Single nucleotide variant (synonymous variant +1 more)	BRSK2-related disorder	GBenign
Select item 3058431	NM_001256627.2(BRSK2):c.91+21104C>G	BRSK2	Single nucleotide variant (synonymous variant +1 more)	BRSK2-related disorder	GLikely benign
Select item 2672439	NM_001256627.2(BRSK2):c.91+21149C>T	BRSK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3042480	NM_001256627.2(BRSK2):c.91+21197C>T	BRSK2	Single nucleotide variant (synonymous variant +1 more)	BRSK2-related disorder	GLikely benign
Select item 2632192	NM_001256627.2(BRSK2):c.91+21210C>T	BRSK2 (H61Y)	Single nucleotide variant (missense variant +1 more)	BRSK2-related disorder	GUncertain significance
Select item 2663692	NM_001256627.2(BRSK2):c.91+21243CAGCC[3]	BRSK2 (G77fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3030192	NM_001256627.2(BRSK2):c.92-4G>A	BRSK2	Single nucleotide variant (intron variant)	BRSK2-related disorder	GLikely benign
Select item 720380	NM_001256627.2(BRSK2):c.92-3C>T	BRSK2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2446195	NM_001256627.2(BRSK2):c.97G>A (p.Val33Met)	BRSK2 (V33M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3067640	NM_001256627.2(BRSK2):c.120C>T (p.Val40=)	BRSK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2580066	NM_001256627.2(BRSK2):c.155G>A (p.Arg52His)	BRSK2 (R52H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1307828	NM_001256627.2(BRSK2):c.155G>C (p.Arg52Pro)	BRSK2 (R52P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2605994	NM_001256627.2(BRSK2):c.173C>T (p.Ser58Leu)	BRSK2 (S104L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1696532	NM_001256627.2(BRSK2):c.182T>C (p.Met61Thr)	BRSK2 (M107T +2 more)	Single nucleotide variant (missense variant +2 more)	BRSK2-related Intellectual Disability and Autism	GUncertain significance
Select item 1801019	NM_001256627.2(BRSK2):c.184_186del (p.Lys62del)	BRSK2 (K108del +2 more)	Deletion (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 2309027	NM_001256627.2(BRSK2):c.194G>A (p.Arg65Gln)	BRSK2 (R5Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2688685	NM_001256627.2(BRSK2):c.202G>T (p.Ala68Ser)	BRSK2 (A114S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 806592	NM_001256627.2(BRSK2):c.209T>C (p.Leu70Pro)	BRSK2 (L116P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2688681	NM_001256627.2(BRSK2):c.218T>C (p.Ile73Thr)	BRSK2 (I119T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2641319	NM_001256627.2(BRSK2):c.273-7C>T	BRSK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2641320	NM_001256627.2(BRSK2):c.327G>A (p.Lys109=)	BRSK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2498479	NM_001256627.2(BRSK2):c.342G>A (p.Thr114=)	BRSK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3135164	NM_001256627.2(BRSK2):c.367C>T (p.Arg123Trp)	BRSK2 (R63W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2688687	NM_001256627.2(BRSK2):c.409A>G (p.Ile137Val)	BRSK2 (I137V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2570782	NM_001256627.2(BRSK2):c.450C>T (p.Asp150=)	BRSK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1722833	NM_001256627.2(BRSK2):c.458ACA[1] (p.Asn154del)	BRSK2 (N154del +2 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2633427	NM_001256627.2(BRSK2):c.472G>A (p.Ala158Thr)	BRSK2 (A158T +2 more)	Single nucleotide variant (missense variant +1 more)	BRSK2-related disorder	GLikely pathogenic
Select item 3038825	NM_001256627.2(BRSK2):c.489G>A (p.Ala163=)	BRSK2	Single nucleotide variant (synonymous variant +1 more)	BRSK2-related disorder	GBenign
Select item 2443376	NM_001256627.2(BRSK2):c.500T>C (p.Val167Ala)	BRSK2 (V107A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2499850	NM_001256627.2(BRSK2):c.527G>A (p.Cys176Tyr)	BRSK2 (C116Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 487356	NM_001256627.2(BRSK2):c.530+1G>A	BRSK2	Single nucleotide variant (splice donor variant)	not specified	GPathogenic
Select item 3030458	NM_001256627.2(BRSK2):c.531-5C>T	BRSK2	Single nucleotide variant (intron variant)	BRSK2-related disorder	GLikely benign
Select item 2603090	NM_001256627.2(BRSK2):c.531-4G>A	BRSK2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 1809930	NM_001256627.2(BRSK2):c.533C>T (p.Ser178Phe)	BRSK2 (S118F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2502722	NM_001256627.2(BRSK2):c.548G>A (p.Cys183Tyr)	BRSK2 (C123Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2641321	NM_001256627.2(BRSK2):c.549C>T (p.Cys183=)	BRSK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1276111	NM_001256627.2(BRSK2):c.564+13C>T	BRSK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1329749	NM_001256627.2(BRSK2):c.572A>G (p.Lys191Arg)	BRSK2 (K131R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1675441	NM_001256627.2(BRSK2):c.594C>T (p.Asp198=)	BRSK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3039927	NM_001256627.2(BRSK2):c.606C>T (p.Cys202=)	BRSK2	Single nucleotide variant (synonymous variant +1 more)	BRSK2-related disorder	GLikely benign
Select item 2641322	NM_001256627.2(BRSK2):c.616C>T (p.Leu206=)	BRSK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 517145	NM_001256627.2(BRSK2):c.635G>A (p.Gly212Glu)	BRSK2 (G152E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely pathogenic
Select item 1315399	NM_001256627.2(BRSK2):c.682G>A (p.Val228Met)	BRSK2 (V168M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2300576	NM_001256627.2(BRSK2):c.689G>A (p.Arg230Gln)	BRSK2 (R276Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3135165	NM_001256627.2(BRSK2):c.696_697del (p.Phe233fs)	BRSK2 (F173fs +2 more)	Microsatellite (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 981462	NM_001256627.2(BRSK2):c.702C>A (p.His234Gln)	BRSK2 (H174Q +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance
Select item 1184934	NM_001256627.2(BRSK2):c.733_734del (p.Leu246fs)	BRSK2 (L186fs +2 more)	Microsatellite (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1675442	NM_001256627.2(BRSK2):c.767C>T (p.Ala256Val)	BRSK2 (A196V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3135166	NM_001256627.2(BRSK2):c.769C>T (p.Arg257Cys)	BRSK2 (R197C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334051	NM_001256627.2(BRSK2):c.779C>A (p.Thr260Lys)	BRSK2 (T306K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3057959	NM_001256627.2(BRSK2):c.802A>G (p.Ile268Val)	BRSK2 (I208V +2 more)	Single nucleotide variant (missense variant +1 more)	BRSK2-related disorder	GUncertain significance
Select item 3036979	NM_001256627.2(BRSK2):c.812+9C>T	BRSK2	Single nucleotide variant (intron variant)	BRSK2-related disorder	GLikely benign
Select item 3041378	NM_001256627.2(BRSK2):c.813-8G>A	BRSK2	Single nucleotide variant (intron variant)	BRSK2-related disorder	GLikely benign
Select item 2577996	NM_001256627.2(BRSK2):c.818dup (p.Lys274fs)	BRSK2 (K214fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3135167	NM_001256627.2(BRSK2):c.815G>C (p.Gly272Ala)	BRSK2 (G318A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304727	NM_001256627.2(BRSK2):c.822G>T (p.Lys274Asn)	BRSK2 (K320N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3025076	NM_001256627.2(BRSK2):c.831C>T (p.Pro277=)	BRSK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1303543	NM_001256627.2(BRSK2):c.832G>C (p.Glu278Gln)	BRSK2 (E218Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2641323	NM_001256627.2(BRSK2):c.849T>C (p.Ile283=)	BRSK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2406884	NM_001256627.2(BRSK2):c.869G>A (p.Arg290His)	BRSK2 (R336H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2641324	NM_001256627.2(BRSK2):c.894C>T (p.Ile298=)	BRSK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3135168	NM_001256627.2(BRSK2):c.898C>A (p.Pro300Thr)	BRSK2 (P240T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2641325	NM_001256627.2(BRSK2):c.900C>T (p.Pro300=)	BRSK2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 503810	NM_001256627.2(BRSK2):c.902_906dup (p.Leu303fs)	BRSK2 (L243fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1698132	NM_001256627.2(BRSK2):c.918G>A (p.Met306Ile)	BRSK2 (M246I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1687426	NM_001256627.2(BRSK2):c.937C>T (p.Arg313Ter)	BRSK2 (R253* +2 more)	Single nucleotide variant (nonsense +1 more)	BRSK2-related disorder	GLikely pathogenic
Select item 2266870	NM_001256627.2(BRSK2):c.938G>A (p.Arg313Gln)	BRSK2 (R359Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1694581	NM_001256627.2(BRSK2):c.955C>T (p.Leu319=)	BRSK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3058213	NM_001256627.2(BRSK2):c.978-7G>A	BRSK2	Single nucleotide variant (intron variant)	BRSK2-related disorder	GLikely benign
Select item 2285811	NM_001256627.2(BRSK2):c.978-1G>C	BRSK2	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GPathogenic
Select item 3036790	NM_001256627.2(BRSK2):c.984C>T (p.Asn328=)	BRSK2	Single nucleotide variant (synonymous variant +1 more)	BRSK2-related disorder	GLikely benign
Select item 3052566	NM_001256627.2(BRSK2):c.1011C>T (p.Leu337=)	BRSK2	Single nucleotide variant (synonymous variant +1 more)	BRSK2-related disorder	GLikely benign
Select item 3048550	NM_001256627.2(BRSK2):c.1035G>C (p.Pro345=)	BRSK2	Single nucleotide variant (synonymous variant +1 more)	BRSK2-related disorder	GLikely benign
Select item 2688684	NM_001256627.2(BRSK2):c.1063dup (p.Arg355fs)	BRSK2 (R295fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1695678	NM_001256627.2(BRSK2):c.1066A>G (p.Asn356Asp)	BRSK2 (N296D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2641326	NM_001256627.2(BRSK2):c.1068C>T (p.Asn356=)	BRSK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3032367	NM_001256627.2(BRSK2):c.1076-10C>T	BRSK2	Single nucleotide variant (intron variant)	BRSK2-related disorder	GLikely benign
Select item 1694582	NM_001256627.2(BRSK2):c.1076-3C>T	BRSK2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3025518	NM_001256627.2(BRSK2):c.1104G>A (p.Pro368=)	BRSK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641327	NM_001256627.2(BRSK2):c.1120G>A (p.Gly374Ser)	BRSK2 (G314S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1308426	NM_001256627.2(BRSK2):c.1127GGC[1] (p.Arg377del)	BRSK2 (R317del +2 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3041268	NM_001256627.2(BRSK2):c.1143A>G (p.Lys381=)	BRSK2	Single nucleotide variant (synonymous variant +1 more)	BRSK2-related disorder	GBenign
Select item 1803474	NM_001256627.2(BRSK2):c.1159A>G (p.Ser387Gly)	BRSK2 (S327G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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