SIK3[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	ABCG4, APOA1 +355 more	Copy number gain	See cases	GPathogenic
Select item 148511	GRCh38/hg38 11q23.3(chr11:115647670-117581883)x3	APOA1, APOA1-AS +83 more	Copy number gain	See cases	GUncertain significance
Select item 59774	GRCh38/hg38 11q23.3(chr11:116436425-118046231)x3	APOA1, APOA1-AS +90 more	Copy number gain	See cases	GPathogenic
Select item 151348	GRCh38/hg38 11q23.3(chr11:116801587-116880319)x3	APOA1, APOA1-AS +6 more	Copy number gain	See cases	GUncertain significance
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	MPZL3, MSANTD2 +769 more	Copy number gain	See cases	GPathogenic
Select item 3024826	NM_001366686.3(SIK3):c.4086C>T (p.Phe1362=)	APOA1-AS, SIK3	Single nucleotide variant (synonymous variant)	SIK3-related condition +1 more	GLikely benign
Select item 2477789	NM_001366686.3(SIK3):c.4055T>C (p.Leu1352Pro)	APOA1-AS, SIK3 (L1304P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3043213	NM_001366686.3(SIK3):c.4023T>G (p.Ser1341=)	APOA1-AS, SIK3	Single nucleotide variant (synonymous variant)	SIK3-related condition	GLikely benign
Select item 3044043	NM_001366686.3(SIK3):c.3852C>A (p.Leu1284=)	APOA1-AS, SIK3	Single nucleotide variant (synonymous variant)	SIK3-related condition	GLikely benign
Select item 2363917	NM_001366686.3(SIK3):c.3815C>T (p.Ala1272Val)	APOA1-AS, SIK3 (A1005V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269434	NM_001366686.3(SIK3):c.3808G>A (p.Asp1270Asn)	APOA1-AS, SIK3 (D1162N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390229	NM_001366686.3(SIK3):c.3743G>A (p.Arg1248His)	SIK3, APOA1-AS (R1248H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289642	NM_001366686.3(SIK3):c.3742C>T (p.Arg1248Cys)	APOA1-AS, SIK3 (R1140C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 734267	NM_001366686.3(SIK3):c.3714G>A (p.Pro1238=)	APOA1-AS, SIK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	LOC129390375, LOC129390376 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	POU2F3, PRDM10 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 2216937	NM_001366686.3(SIK3):c.3650G>A (p.Ser1217Asn)	SIK3 (S1169N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325824	NM_001366686.3(SIK3):c.3619A>G (p.Thr1207Ala)	SIK3 (T1099A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2642399	NM_001366686.3(SIK3):c.3594G>C (p.Gly1198=)	SIK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1332964	NM_001366686.3(SIK3):c.3551C>G (p.Pro1184Arg)	SIK3 (P1076R +3 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Krakow type +1 more	GBenign
Select item 3057408	NM_001366686.3(SIK3):c.3534C>T (p.Thr1178=)	SIK3	Single nucleotide variant (synonymous variant)	SIK3-related condition	GLikely benign
Select item 3034397	NM_001366686.3(SIK3):c.3438C>G (p.Asp1146Glu)	SIK3 (D1038E +3 more)	Single nucleotide variant (missense variant)	SIK3-related condition	GBenign
Select item 3038832	NM_001366686.3(SIK3):c.3339C>T (p.Ile1113=)	SIK3	Single nucleotide variant (synonymous variant)	SIK3-related condition	GBenign
Select item 768487	NM_001366686.3(SIK3):c.3292G>A (p.Ala1098Thr)	SIK3 (A1098T +3 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Krakow type +2 more	GBenign/Likely benign
Select item 776662	NM_001366686.3(SIK3):c.3268C>T (p.Arg1090Cys)	SIK3 (R1090C +3 more)	Single nucleotide variant (missense variant)	SIK3-related condition +1 more	GBenign
Select item 2296141	NM_001366686.3(SIK3):c.3266A>C (p.Glu1089Ala)	SIK3 (E1041A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366862	NM_001366686.3(SIK3):c.3224C>T (p.Ala1075Val)	SIK3 (A1027V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368547	NM_001366686.3(SIK3):c.3197T>C (p.Leu1066Pro)	SIK3 (L799P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3059702	NM_001366686.3(SIK3):c.3168A>G (p.Gln1056=)	SIK3	Single nucleotide variant (synonymous variant)	SIK3-related condition	GBenign
Select item 2620182	NM_001366686.3(SIK3):c.3112A>T (p.Thr1038Ser)	SIK3 (T1038S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642400	NM_001366686.3(SIK3):c.3099C>T (p.Ile1033=)	SIK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2383742	NM_001366686.3(SIK3):c.3085G>A (p.Gly1029Ser)	SIK3 (G981S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3024952	NM_001366686.3(SIK3):c.3020A>G (p.Tyr1007Cys)	SIK3 (Y1007C +3 more)	Single nucleotide variant (missense variant)	SIK3-related condition +1 more	GLikely benign
Select item 2603359	NM_001366686.3(SIK3):c.3008C>T (p.Thr1003Met)	SIK3 (T1003M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3060059	NM_001366686.3(SIK3):c.2985A>G (p.Leu995=)	SIK3	Single nucleotide variant (synonymous variant)	SIK3-related condition	GBenign
Select item 1049739	NM_001366686.3(SIK3):c.2978C>T (p.Ser993Leu)	SIK3 (S726L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2351478	NM_001366686.3(SIK3):c.2960C>T (p.Pro987Leu)	SIK3 (P879L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338711	NM_001366686.3(SIK3):c.2845G>A (p.Gly949Ser)	SIK3 (G949S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595198	NM_001366686.3(SIK3):c.2792C>T (p.Ala931Val)	SIK3 (A883V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291201	NM_001366686.3(SIK3):c.2687C>A (p.Thr896Asn)	SIK3 (T848N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307206	NM_001366686.3(SIK3):c.2642T>C (p.Ile881Thr)	SIK3 (I674T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232708	NM_001366686.3(SIK3):c.2635C>T (p.Arg879Cys)	SIK3 (R831C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642401	NM_001366686.3(SIK3):c.2515G>A (p.Val839Met)	SIK3 (V632M +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3034586	NM_001366686.3(SIK3):c.2431G>A (p.Ala811Thr)	SIK3 (A763T +2 more)	Single nucleotide variant (missense variant)	SIK3-related condition	GBenign
Select item 2545184	NM_001366686.3(SIK3):c.2398A>G (p.Met800Val)	SIK3 (M800V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2634830	NM_001366686.3(SIK3):c.2395C>G (p.Pro799Ala)	SIK3 (P592A +2 more)	Single nucleotide variant (missense variant)	SIK3-related condition	GUncertain significance
Select item 2275678	NM_001366686.3(SIK3):c.2395C>A (p.Pro799Thr)	SIK3 (P799T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1332965	NM_001366686.3(SIK3):c.2315+45C>A	SIK3	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, Krakow type	GBenign
Select item 2322716	NM_001366686.3(SIK3):c.2220A>T (p.Gln740His)	SIK3 (Q692H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2630301	NM_001366686.3(SIK3):c.2212C>A (p.Leu738Ile)	SIK3 (L531I +2 more)	Single nucleotide variant (missense variant)	SIK3-related condition	GUncertain significance
Select item 2406235	NM_001366686.3(SIK3):c.2033C>T (p.Ala678Val)	SIK3 (A630V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558956	NM_001366686.3(SIK3):c.2014C>T (p.Arg672Trp)	SIK3 (R624W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367154	NM_001366686.3(SIK3):c.1991C>T (p.Thr664Met)	SIK3 (T457M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1332966	NM_001366686.3(SIK3):c.1953-11C>T	SIK3	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, Krakow type	GBenign
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	ABCG4, ACAD8 +763 more	Copy number gain	See cases	GPathogenic
Select item 2611462	NM_001366686.3(SIK3):c.1780G>A (p.Gly594Arg)	SIK3 (G594R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213988	NM_001366686.3(SIK3):c.1705C>T (p.Arg569Trp)	SIK3 (R521W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511353	NM_001366686.3(SIK3):c.1700G>A (p.Arg567His)	SIK3 (R408H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044017	NM_001366686.3(SIK3):c.1644G>A (p.Arg548=)	SIK3	Single nucleotide variant (synonymous variant)	SIK3-related condition	GLikely benign
Select item 1332967	NM_001366686.3(SIK3):c.1582-37A>G	SIK3	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, Krakow type	GBenign
Select item 2642402	NM_001366686.3(SIK3):c.1552T>C (p.Leu518=)	SIK3	Single nucleotide variant (synonymous variant)	SIK3-related condition +1 more	GBenign/Likely benign
Select item 2569154	NM_001366686.3(SIK3):c.1439T>C (p.Met480Thr)	SIK3 (M432T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621087	NM_001366686.3(SIK3):c.1330C>A (p.Leu444Met)	SIK3 (L396M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479842	NM_001366686.3(SIK3):c.1281G>C (p.Gln427His)	SIK3 (Q268H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253422	NM_001366686.3(SIK3):c.1213G>A (p.Ala405Thr)	SIK3 (A405T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274233	NM_001366686.3(SIK3):c.1166A>G (p.His389Arg)	SIK3 (H389R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324962	NM_001366686.3(SIK3):c.1124A>G (p.Tyr375Cys)	SIK3 (Y216C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249090	NM_001366686.3(SIK3):c.1117G>A (p.Asp373Asn)	SIK3 (D373N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3024353	NM_001366686.3(SIK3):c.950T>G (p.Met317Arg)	SIK3 (M158R +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Krakow type	GLikely pathogenic
Select item 3058637	NM_001366686.3(SIK3):c.822C>T (p.Arg274=)	SIK3	Single nucleotide variant (synonymous variant)	SIK3-related condition	GLikely benign
Select item 587366	NM_001366686.3(SIK3):c.559C>T (p.Arg187Cys)	SIK3 (R187C +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Krakow type	GPathogenic
Select item 723654	NM_001366686.3(SIK3):c.273+9G>T	SIK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3058801	NM_001366686.3(SIK3):c.126C>T (p.Ser42=)	SIK3	Single nucleotide variant (5 prime UTR variant +1 more)	SIK3-related condition	GLikely benign
Select item 3025005	NM_001366686.3(SIK3):c.56G>A (p.Gly19Glu)	SIK3 (G19E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2642403	NM_001366686.3(SIK3):c.39C>T (p.Ala13=)	SIK3	Single nucleotide variant (synonymous variant +1 more)	SIK3-related condition +1 more	GBenign/Likely benign
Select item 2685425	GRCh37/hg19 11q23.3(chr11:116681008-116826215)x1	APOA1, APOA4 +2 more	Copy number loss	not provided	GUncertain significance
Select item 2684656	GRCh37/hg19 11q23.3(chr11:115182164-116759502)x3	APOA1, APOA4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2426021	NC_000011.9:g.(?_116660844)_(117870356_?)del	APOA1, APOA4 +17 more	Deletion	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Inflammatory bowel disease 28 +5 more	GUncertain significance
Select item 2422186	NC_000011.9:g.(?_116706880)_(116714426_?)del	APOA1, SIK3	Deletion	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1410294	NC_000011.9:g.(?_116660844)_(121500272_?)dup	ATP5MG, SCN4B +73 more	Duplication	not provided	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 812956	Single allele	ABCG4, ACRV1 +169 more	Deletion	Neurodevelopmental delay +7 more	GLikely pathogenic
Select item 688996	GRCh37/hg19 11q23.3(chr11:116790109-116902095)x3	SIK3	Copy number gain	not provided	GUncertain significance
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	ABCG4, ACAD8 +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563876	GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3	APOC3, TBCEL +70 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	See cases	GPathogenic
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	FXYD2, POU2F3 +72 more	Copy number gain	See cases	GPathogenic

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Items: 100