SIK1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	NCAM2, NDUFV3 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	PDE9A-AS1, PDXK +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	LOC130066843, LOC130066844 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653343, LOC126653344 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	LINC00315, LINC00316 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	ATP5PF, ATP5PO +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653350, LOC126653351 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LINC00111, LINC00112 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	TSPEAR-AS1, TSPEAR-AS2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC130066578, LOC130066579 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	LOC126653316, LOC126653317 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	LOC130066758, LOC130066759 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	LOC130066717, LOC130066718 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC125418051, LOC125418052 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	HSF2BP, HSPA13 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LOC130066756, LOC130066757 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	KRTAP12-3, KRTAP12-4 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC107403153, LOC107548109 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SON, SPATC1L +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066735, LOC130066736 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 154583	GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1	AATBC, ABCG1 +268 more	Copy number loss	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	BNAT1, C21orf58 +416 more	Copy number loss	See cases	GPathogenic
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	AATBC, ABCG1 +376 more	Copy number loss	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	LOC130066735, LOC130066736 +340 more	Copy number loss	See cases	GPathogenic
Select item 57115	GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1	LOC130066806, LOC130066807 +334 more	Copy number loss	See cases	GPathogenic
Select item 154533	GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1	AATBC, ADARB1 +276 more	Copy number loss	See cases	GPathogenic
Select item 144193	GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1	AATBC, ADARB1 +268 more	Copy number loss	See cases	GPathogenic
Select item 157471	NC_000021.9:g.43401987_43433979dup	LOC125418080, LOC125418081 +1 more	Duplication	Normal pregnancy	Gnot provided
Select item 2652716	NC_000021.9:g.43402567del	SIK1	Deletion	not provided	GLikely benign
Select item 1879543	NC_000021.9:g.43403420G>A	SIK1	Single nucleotide variant	not provided	GLikely benign
Select item 545245	Single allele	AATBC, ADARB1 +245 more	Duplication	Autism	GLikely pathogenic
Select item 1711544	NC_000021.9:g.43403465G>T	SIK1	Single nucleotide variant	not provided	GBenign
Select item 1879544	NC_000021.9:g.43403629G>A	SIK1	Single nucleotide variant	not provided	GBenign
Select item 2652717	NC_000021.9:g.43403668C>T	SIK1	Single nucleotide variant	not provided	GBenign
Select item 2652718	NC_000021.9:g.43403691A>C	SIK1	Single nucleotide variant	not provided	GLikely benign
Select item 476074	NC_000021.8:g.(?_44836602)_(44837674_?)dup	SIK1	Duplication	Developmental and epileptic encephalopathy, 30	GBenign
Select item 1603261	NM_173354.5(SIK1):c.2340C>T (p.Val780=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 1105318	NM_173354.5(SIK1):c.2334G>A (p.Thr778=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2604795	NM_173354.5(SIK1):c.2333C>T (p.Thr778Met)	SIK1 (T778M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1391624	NM_173354.5(SIK1):c.2321G>C (p.Cys774Ser)	SIK1 (C774S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 1436393	NM_173354.5(SIK1):c.2320T>C (p.Cys774Arg)	SIK1 (C774R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 809293	NM_173354.5(SIK1):c.2320T>G (p.Cys774Gly)	SIK1 (C774G)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1539426	NM_173354.5(SIK1):c.2311C>T (p.Leu771=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 940232	NM_173354.5(SIK1):c.2305G>A (p.Glu769Lys)	SIK1 (E769K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2006279	NM_173354.5(SIK1):c.2302A>G (p.Met768Val)	SIK1 (M768V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 568626	NM_173354.5(SIK1):c.2293G>T (p.Asp765Tyr)	SIK1 (D765Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2116534	NM_173354.5(SIK1):c.2279G>A (p.Gly760Glu)	SIK1 (G760E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 856098	NM_173354.5(SIK1):c.2272C>T (p.Pro758Ser)	SIK1 (P758S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2778089	NM_173354.5(SIK1):c.2263G>C (p.Gly755Arg)	SIK1 (G755R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2742875	NM_173354.5(SIK1):c.2258C>G (p.Ala753Gly)	SIK1 (A753G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 1500908	NM_173354.5(SIK1):c.2258C>T (p.Ala753Val)	SIK1 (A753V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 3162243	NM_173354.5(SIK1):c.2257G>T (p.Ala753Ser)	SIK1 (A753S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 650557	NM_173354.5(SIK1):c.2256_2257delinsAT (p.Ala753Ser)	SIK1 (A753S)	Indel (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2904588	NM_173354.5(SIK1):c.2255T>C (p.Leu752Pro)	SIK1 (L752P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2110626	NM_173354.5(SIK1):c.2250C>T (p.Ala750=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 1353547	NM_173354.5(SIK1):c.2243G>T (p.Arg748Leu)	SIK1 (R748L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +1 more	GUncertain significance
Select item 476104	NM_173354.5(SIK1):c.2243G>A (p.Arg748His)	SIK1 (R748H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +1 more	GConflicting classifications of pathogenicity
Select item 476103	NM_173354.5(SIK1):c.2242C>T (p.Arg748Cys)	SIK1 (R748C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +1 more	GUncertain significance
Select item 2819491	NM_173354.5(SIK1):c.2238A>G (p.Pro746=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2809841	NM_173354.5(SIK1):c.2230G>A (p.Val744Met)	SIK1 (V744M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2003130	NM_173354.5(SIK1):c.2230G>C (p.Val744Leu)	SIK1 (V744L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 737914	NM_173354.5(SIK1):c.2227G>A (p.Ala743Thr)	SIK1 (A743T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GBenign
Select item 743930	NM_173354.5(SIK1):c.2226C>G (p.Pro742=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30 +1 more	GLikely benign
Select item 715073	NM_173354.5(SIK1):c.2226C>T (p.Pro742=)	SIK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 590022	NM_173354.5(SIK1):c.2225C>T (p.Pro742Leu)	SIK1 (P742L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 833576	NM_173354.5(SIK1):c.2222T>G (p.Leu741Arg)	SIK1 (L741R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GBenign
Select item 2821097	NM_173354.5(SIK1):c.2220C>T (p.Ala740=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 851383	NM_173354.5(SIK1):c.2218G>A (p.Ala740Thr)	SIK1 (A740T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GBenign
Select item 588900	NM_173354.5(SIK1):c.2217C>T (p.Thr739=)	SIK1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1149752	NM_173354.5(SIK1):c.2211C>T (p.Gly737=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 589062	NM_173354.5(SIK1):c.2209G>A (p.Gly737Ser)	SIK1 (G737S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1615615	NM_173354.5(SIK1):c.2208C>G (p.Thr736=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 542720	NM_173354.5(SIK1):c.2208C>T (p.Thr736=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 476102	NM_173354.5(SIK1):c.2204G>A (p.Gly735Asp)	SIK1 (G735D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 542715	NM_173354.5(SIK1):c.2202T>C (p.Ile734=)	SIK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1063659	NM_173354.5(SIK1):c.2201T>C (p.Ile734Thr)	SIK1 (I734T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1718065	NM_173354.5(SIK1):c.2200A>C (p.Ile734Leu)	SIK1 (I734L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2860867	NM_173354.5(SIK1):c.2196G>A (p.Leu732=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2996140	NM_173354.5(SIK1):c.2195T>G (p.Leu732Arg)	SIK1 (L732R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 1100795	NM_173354.5(SIK1):c.2193C>T (p.His731=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 812541	NM_173354.5(SIK1):c.2191C>T (p.His731Tyr)	SIK1 (H731Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 450218	NM_173354.5(SIK1):c.2191C>A (p.His731Asn)	SIK1 (H731N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818772	NM_173354.5(SIK1):c.2189C>T (p.Thr730Ile)	SIK1 (T730I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 1062859	NM_173354.5(SIK1):c.2188A>T (p.Thr730Ser)	SIK1 (T730S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 589153	NM_173354.5(SIK1):c.2182C>T (p.Leu728=)	SIK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1007082	NM_173354.5(SIK1):c.2179C>T (p.Leu727Phe)	SIK1 (L727F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance

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